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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Osteopetrosis autosomal dominant type 2 ? ### Doctor:
What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the complications of Alagille Syndrome ? ### Doctor:
The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below. Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor. Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Heart Block ? ### Doctor:
Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. ("Rate" refers to the number of times your heart beats per minute. "Rhythm" refers to the pattern of regular or irregular pulses produced as the heart beats.) With each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood. Heart block occurs if the electrical signal is slowed or disrupted as it moves through the heart. Overview
Heart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat. Some people are born with heart block, while others develop it during their lifetimes. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Liddle syndrome ? ### Doctor:
How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing. | [
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What is (are) Leigh's Disease ? ### Doctor:
Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Cyclic Vomiting Syndrome ? ### Doctor:
The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms:
- retching, or making an attempt to vomit - heaving or gagging - lack of appetite - abdominal pain - diarrhea - fever - dizziness - headache - sensitivity to light
Intensity of symptoms will vary as a person cycles through four distinct phases of an episode:
- Prodrome phase. During the prodrome phase, the person feels that an episode of nausea and vomiting is about to start. Often marked by intense sweating and nauseawith or without abdominal painthis phase can last from a few minutes to several hours. The person may appear unusually pale. | [
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What are the symptoms of Congenital anosmia ? ### Doctor:
What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Frasier syndrome ? ### Doctor:
These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Penile Cancer ? ### Doctor:
New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers helps kill more tumor cells. Sentinel lymph node biopsy followed by surgery Sentinel lymph node biopsy is the removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. | [
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What is (are) Epilepsy ? ### Doctor:
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by early-onset primary dystonia ? ### Doctor:
Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people worldwide. | [
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What is (are) Depression ? ### Doctor:
Depression is a serious medical illness. It's more than just a feeling of being sad or "blue" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include - Feeling sad or "empty" - Loss of interest in favorite activities - Overeating, or not wanting to eat at all - Not being able to sleep, or sleeping too much - Feeling very tired - Feeling hopeless, irritable, anxious, or guilty - Aches or pains, headaches, cramps, or digestive problems - Thoughts of death or suicide Depression is a disorder of the brain. There are a variety of causes, including genetic, biological, environmental, and psychological factors. | [
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What is (are) fumarase deficiency ? ### Doctor:
Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. | [
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How to diagnose Bronchiolitis obliterans organizing pneumonia ? ### Doctor:
How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. | [
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What are the symptoms of Trichorhinophalangeal syndrome type 1 ? ### Doctor:
What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. | [
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what research (or clinical trials) is being done for Oral Cavity and Oropharyngeal Cancer ? ### Doctor:
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. | [
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What is (are) Stuttering ? ### Doctor:
Stuttering is a problem that affects the flow of your speech. If you stutter, you may - Make certain words sound longer than they should be - Find it hard to start a new word - Repeat words or parts of words - Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw may tremble as you struggle to get the words out. Stuttering can affect anyone. It is most common in young children who are still learning to speak. Boys are three times more likely to stutter than girls. Most children stop stuttering as they grow older. Less than 1 percent of adults stutter. Scientists don't fully understand why some people stutter. The problem seems to run in families. There is no cure, but treatments can help. They include stuttering therapy, electronic devices, and self-help groups. | [
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How many people are affected by thiamine-responsive megaloblastic anemia syndrome ? ### Doctor:
Thiamine-responsive megaloblastic anemia syndrome has been reported in approximately 30 families worldwide. Its prevalence is unknown. | [
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What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Doctor:
The HHS has identified 29 cases of CJD among the nearly 7,700 people in the United States who received NHPP pituitary hGH. None of the 29 people who got CJD began treatment with pituitary hGH after 1977, the year that the NHPP began producing pituitary hGH in a laboratory (headed by Dr. Albert Parlow) using a new purification step. Today, the growth hormone used to treat patients is made biosynthetically and not from human pituitary glands. Biosynthetic growth hormone (bGH), also known as recombinant human growth hormone (rhGH), poses no threat of infection with CJD. Based on NHPP records, the HHS estimated 7,700 people were treated with pituitary hGH from the NHPP. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by familial hemophagocytic lymphohistiocytosis ? ### Doctor:
Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Neutropenia chronic familial ? ### Doctor:
What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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Is deafness and myopia syndrome inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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Is Schizencephaly inherited ? ### Doctor:
Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene. | [
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Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ? ### Doctor:
Animal herders, livestock workers, and slaughterhouse workers in endemic areas are at risk of CCHF. Healthcare workers in endemic areas are at risk of infection through unprotected contact with infectious blood and body fluids. Individuals and international travelers with contact to livestock in endemic regions may also be exposed. | [
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What are the genetic changes related to Schwartz-Jampel syndrome ? ### Doctor:
Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? ### Doctor:
Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Larsen syndrome ? ### Doctor:
These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Leber hereditary optic neuropathy ? ### Doctor:
What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What to do for Urine Blockage in Newborns ? ### Doctor:
Researchers have not found that a mothers eating, diet, and nutrition play a role in causing or preventing urine blockage in newborns. | [
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What are the symptoms of Reynolds syndrome ? ### Doctor:
What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Hepatomegaly 90% Myalgia 90% Pruritus 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Arthritis 50% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Irregular hyperpigmentation 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Mucosal telangiectasiae 50% Skin rash 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Ascites 7.5% Cirrhosis 7.5% Encephalitis 7.5% Lichenification 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Biliary cirrhosis - Calcinosis - Elevated alkaline phosphatase - Elevated hepatic transaminases - Gastrointestinal hemorrhage - Hyperbilirubinemia - Jaundice - Lip telangiectasia - Palmar telangiectasia - Sclerodactyly - Splenomegaly - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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Is retroperitoneal fibrosis inherited ? ### Doctor:
Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown. | [
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Who is at risk for Thrombotic Thrombocytopenic Purpura? ? ### Doctor:
Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups. Inherited TTP mainly affects newborns and children. Most people who have inherited TTP begin to have symptoms soon after birth. Some, however, don't have symptoms until they're adults. It isn't clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:
Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections
Some medical procedures, such as surgery and blood and marrow stem cell transplant
Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens
Quinine, which is a substance often found in tonic water and nutritional health products | [
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What are the symptoms of Antley Bixler syndrome ? ### Doctor:
What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. | [
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Who is at risk for Colon Cancer? ? ### Doctor:
Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). | [
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what research (or clinical trials) is being done for Machado-Joseph Disease ? ### Doctor:
The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease. | [
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How many people are affected by beta-ureidopropionase deficiency ? ### Doctor:
The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Mnire's disease ? ### Doctor:
What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) vitamin D-dependent rickets ? ### Doctor:
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. | [
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What are the symptoms of Polyarteritis nodosa ? ### Doctor:
What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal pyramidal signs 90% Abnormality of temperature regulation 90% Aneurysm 90% Arthralgia 90% Asthma 90% Cutis marmorata 90% Edema of the lower limbs 90% Hemiplegia/hemiparesis 90% Hypertensive crisis 90% Hypertrophic cardiomyopathy 90% Migraine 90% Myalgia 90% Nephropathy 90% Orchitis 90% Paresthesia 90% Polyneuropathy 90% Renal insufficiency 90% Skin rash 90% Subcutaneous hemorrhage 90% Vasculitis 90% Weight loss 90% Arrhythmia 50% Behavioral abnormality 50% Coronary artery disease 50% Gangrene 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Leukocytosis 50% Seizures 50% Skin ulcer 50% Urticaria 50% Abnormality of extrapyramidal motor function 7.5% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Acrocyanosis 7.5% Arterial thrombosis 7.5% Arthritis 7.5% Ascites 7.5% Autoimmunity 7.5% Congestive heart failure 7.5% Encephalitis 7.5% Hemobilia 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Myositis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Pancreatitis 7.5% Retinal detachment 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) AL amyloidosis ? ### Doctor:
AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Do you have information about Pet Health
### Doctor:
Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget? Once you own a pet, keep it healthy. Know the signs of medical problems. Take your pet to the veterinarian if you notice: - Loss of appetite - Drinking a lot of water - Gaining or losing a lot of weight quickly - Strange behavior - Being sluggish and tired - Trouble getting up or down - Strange lumps | [
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Is paroxysmal extreme pain disorder inherited ? ### Doctor:
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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What is (are) Whipple Disease ? ### Doctor:
The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine measures about 20 feet long and includes the duodenum, jejunum, and ileum. Villitiny, fingerlike protrusionsline the inside of the small intestine. Villi normally let nutrients from food be absorbed through the walls of the small intestine into the bloodstream. | [
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What are the genetic changes related to Buschke-Ollendorff syndrome ? ### Doctor:
Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells. Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF- signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. | [
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What are the treatments for Chiari Malformation ? ### Doctor:
Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the person's activities of daily living. | [
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Who is at risk for Colorectal Cancer? ? ### Doctor:
Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of colorectal cancer: - Age - Family history of colorectal cancer - Personal history - Inherited risk - Alcohol - Cigarette smoking - Obesity - The following protective factors decrease the risk of colorectal cancer: - Physical activity - Aspirin - Combination hormone replacement therapy - Polyp removal - It is not clear if the following affect the risk of colorectal cancer: - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin - Calcium - Diet - The following factors do not affect the risk of colorectal cancer: - Hormone replacement therapy with estrogen only - Statins - Cancer prevention clinical trials are used to study ways to prevent cancer. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for arginase deficiency ? ### Doctor:
These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Extragonadal Germ Cell Tumors ? ### Doctor:
Key Points
- Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. - Age and gender can affect the risk of extragonadal germ cell tumors. - Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. - Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. - Certain factors affect prognosis (chance of recovery) and treatment options. Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body.
" Extragonadal" means outside of the gonads (sex organs). When cells that are meant to form sperm in the testicles or eggs in the ovaries travel to other parts of the body, they may grow into extragonadal germ cell tumors. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Hypopharyngeal Cancer ? ### Doctor:
New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. | [
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What are the symptoms of Charcot-Marie-Tooth disease type 2K ? ### Doctor:
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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How many people are affected by Meier-Gorlin syndrome ? ### Doctor:
Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown. | [
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What are the genetic changes related to glutamate formiminotransferase deficiency ? ### Doctor:
Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also plays a role in producing one of several forms of the vitamin folate, which has many important functions in the body. FTCD gene mutations that cause glutamate formiminotransferase deficiency reduce or eliminate the function of the enzyme. It is unclear how these changes are related to the specific health problems associated with the mild and severe forms of glutamate formiminotransferase deficiency, or why individuals are affected by one form or the other. | [
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What are the symptoms of Hashimoto's encephalitis ? ### Doctor:
What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the stages of Testicular Cancer ? ### Doctor:
Key Points
- After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for testicular cancer: - Stage 0 (Testicular Intraepithelial Neoplasia) - Stage I - Stage II - Stage III
After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. The process used to find out if cancer has spread within the testicles or to other parts of the body is called staging. | [
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What are the treatments for cold-induced sweating syndrome ? ### Doctor:
These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing Registry: Cold-induced sweating syndrome 2 - Merck Manual Consumer Version: Excessive Sweating These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Fanconi Anemia ? ### Doctor:
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. | [
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What is (are) Coronavirus Infections ? ### Doctor:
Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can cause severe illness. Coronaviruses probably spread through the air by coughing or sneezing, or by close personal contact. If you get infected, symptoms may include - Runny nose - Cough - Sore throat - Fever You may be able to reduce your risk of infection by washing your hands often with soap and water, not touching your eyes, nose, or mouth, and avoiding close contact with people who are sick. There is no vaccine to prevent coronavirus infection. | [
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Is gastrointestinal stromal tumor inherited ? ### Doctor:
Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing tumors. When familial GIST is associated with mutations in other genes, it can have an autosomal recessive pattern of inheritance, which means alterations in both copies of the gene in each cell increase a person's chance of developing tumors. | [
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What is (are) Preauricular sinus ? ### Doctor:
Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus. | [
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What are the genetic changes related to phosphoglycerate mutase deficiency ? ### Doctor:
Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals. | [
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What are the treatments for Dry Mouth ? ### Doctor:
Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky. | [
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What is (are) Hairy Cell Leukemia ? ### Doctor:
Key Points
- Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Gender and age may affect the risk of hairy cell leukemia. - Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. - Certain factors affect treatment options and prognosis (chance of recovery). Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Hairy cell leukemia is a cancer of the blood and bone marrow. This rare type of leukemia gets worse slowly or does not get worse at all. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Cockayne syndrome type II ? ### Doctor:
What are the signs and symptoms of Cockayne syndrome type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the hair - Abnormality of the pinna - Abnormality of visual evoked potentials - Anhidrosis - Arrhythmia - Ataxia - Atypical scarring of skin - Autosomal recessive inheritance - Basal ganglia calcification - Carious teeth - Cataract - Cerebellar calcifications - Cerebral atrophy - Cryptorchidism - Cutaneous photosensitivity - Decreased lacrimation - Decreased nerve conduction velocity - Delayed eruption of primary teeth - Dental malocclusion - Dermal atrophy - Dry hair - Dry skin - Hepatomegaly - Hypermetropia - Hypertension - Hypoplasia of teeth - Hypoplasia of the iris - Hypoplastic iliac wing - Hypoplastic pelvis - Increased cellular sensitivity to UV light - Intellectual disability - Intrauterine growth retardation - Ivory epiphyses of the phalanges of the hand - Kyphosis - Limitation of joint mobility - Loss of facial adipose tissue - Mandibular prognathia - Microcephaly - Microcornea - Micropenis - Microphthalmia - Muscle weakness - Normal pressure hydrocephalus - Nystagmus - Opacification of the corneal stroma - Optic atrophy - Osteoporosis - Patchy demyelination of subcortical white matter - Peripheral dysmyelination - Pigmentary retinopathy - Polyneuropathy - Postnatal growth retardation - Progeroid facial appearance - Proteinuria - Reduced subcutaneous adipose tissue - Renal insufficiency - Seizures - Sensorineural hearing impairment - Severe failure to thrive - Severe short stature - Slender nose - Small for gestational age - Sparse hair - Splenomegaly - Square pelvis bone - Strabismus - Subcortical white matter calcifications - Thickened calvaria - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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How to diagnose Parasites - Echinococcosis ? ### Doctor:
The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis. Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection. | [
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What are the symptoms of Brody myopathy ? ### Doctor:
What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. | [
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What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ? ### Doctor:
What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Limitation of joint mobility 90% Neurological speech impairment 90% Ophthalmoparesis 90% Skeletal muscle atrophy 90% Kyphosis 7.5% Ptosis 7.5% Scoliosis 7.5% Strabismus 7.5% Oculomotor apraxia 5% Apnea - Apraxia - Areflexia - Broad alveolar ridges - Camptodactyly - Cerebral atrophy - Congenital foot contractures - Congenital onset - Decreased fetal movement - Delayed myelination - Delayed speech and language development - Distal amyotrophy - Drooling - Dystonia - Facial palsy - Feeding difficulties - High anterior hairline - High palate - Hip dislocation - Hyperlordosis - Intellectual disability, mild - Long philtrum - Low-set ears - Muscular hypotonia - Narrow chest - Neonatal respiratory distress - Proximal placement of thumb - Retrognathia - Seizures - Short neck - Short stature - Smooth philtrum - Spasticity - Talipes equinovarus - Upslanted palpebral fissure - U-Shaped upper lip vermilion - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the symptoms of Retinoschisis autosomal dominant ? ### Doctor:
What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of macular pigmentation - Autosomal dominant inheritance - Peripheral retinal degeneration - Retinoschisis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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What are the treatments for Ewing Sarcoma ? ### Doctor:
Key Points
- There are different types of treatment for children with Ewing sarcoma. - Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for Ewing sarcoma may cause side effects. - Five types of standard treatment are used: - Chemotherapy - Radiation therapy - Surgery - Targeted therapy - High-dose chemotherapy with stem cell rescue - New types of treatment are being tested in clinical trials. - Chimeric antigen receptor (CAR) T-cell therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Lynch syndrome ? ### Doctor:
How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. | [
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Do you have information about Healthy Living
### Doctor:
Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke and other serious diseases: - Get the screening tests you need - Maintain a healthy weight - Eat a variety of healthy foods, and limit calories and saturated fat - Be physically active - Control your blood pressure and cholesterol - Don't smoke - Protect yourself from too much sun - Drink alcohol in moderation, or don't drink at all Agency for Healthcare Research and Quality | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Who is at risk for Hairy Cell Leukemia? ? ### Doctor:
Gender and age may affect the risk of hairy cell leukemia. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The cause of hairy cell leukemia is unknown. It occurs more often in older men. | [
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Is megalencephalic leukoencephalopathy with subcortical cysts inherited ? ### Doctor:
All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Florid papillomatosis of the nipple ? ### Doctor:
What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. | [
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What are the genetic changes related to critical congenital heart disease ? ### Doctor:
In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Lesch Nyhan syndrome ? ### Doctor:
Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure. | [
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What are the treatments for desmosterolosis ? ### Doctor:
These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Vascular Diseases ? ### Doctor:
The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include - Family history of vascular or heart diseases - Pregnancy - Illness or injury - Long periods of sitting or standing still - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol - Smoking - Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. | [
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What is (are) High Blood Pressure ? ### Doctor:
Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG), and baking soda. Food from fast food restaurants, frozen foods, and canned foods also tend to be higher in sodium. | [
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What are the symptoms of Potato nose ? ### Doctor:
What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. | [
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What is (are) Creating a Family Health History ? ### Doctor:
Here are important questions to ask your blood relatives. - What is your age or date of birth? - Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? - Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) - How old were you when you developed these illnesses? - Have you or your partner had any problems with pregnancies or childbirth? What is your age or date of birth? Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) | [
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What are the symptoms of Polycythemia Vera ? ### Doctor:
Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - A feeling of pressure or fullness below the ribs on the left side. - Headaches. - Double vision or seeing dark or blind spots that come and go. - Itching all over the body, especially after being in warm or hot water. - Reddened face that looks like a blush or sunburn. - Weakness. - Dizziness. - Weight loss for no known reason. | [
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What causes Progeria ? ### Doctor:
What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Macrothrombocytopenia progressive deafness ? ### Doctor:
What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the symptoms of Gardner syndrome ? ### Doctor:
What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other features of Gardner syndrome may include: Dental abnormalities Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas Adrenal masses Desmoid tumors Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland) The Human Phenotype Ontology provides the following list of signs and symptoms for Gardner syndrome. | [
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What are the treatments for Asbestos-Related Lung Diseases ? ### Doctor:
No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms and prevent or delay complications. If you have lung cancer, treatments may help slow the progress of the disease. Treatments for Pleural Plaque, Pleural Effusion, and Asbestosis
If you have pleural plaque, pleural effusion, or asbestosis and you smoke, your doctor will advise you to quit smoking. People who have these conditions can lower their risk for lung cancer if they quit smoking. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. | [
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What are the treatments for Ohtahara Syndrome ? ### Doctor:
Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are symptomatic and supportive. | [
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What is (are) Central Pain Syndrome ? ### Doctor:
Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. The character of the pain associated with this syndrome differs widely among individuals partly because of the variety of potential causes. Central pain syndrome may affect a large portion of the body or may be more restricted to specific areas, such as hands or feet. The extent of pain is usually related to the cause of the CNS injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes, usually cold temperatures. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Gillespie syndrome inherited ? ### Doctor:
In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What causes Ollier disease ? ### Doctor:
What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. | [
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What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? ### Doctor:
What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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How to prevent Parasites - Loiasis ? ### Doctor:
There are no programs to control or eliminate loiasis in affected areas. Your risk of infection may be less in areas where communities receive regular treatment for onchocerciasis or lymphatic filariasis. There are no vaccines that protect you from loiasis. If you are going to be in an area with loiasis for a long period of time, diethylcarbamazine (DEC)—300mg taken once a week—can reduce your risk of infection. Avoiding areas where the deerflies are found, such as muddy, shaded areas along rivers or around wood fires, may also reduce your risk of infection. You may reduce your risk of bites by using insect repellants that contain DEET (N,N-Diethyl-meta-toluamide) and wearing long sleeves and long pants during the day, which is when deerflies bite. Treating your clothes with permethrin may also help. | [
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What are the genetic changes related to McLeod neuroacanthocytosis syndrome ? ### Doctor:
Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown. XK gene mutations typically lead to the production of an abnormally short, nonfunctional protein or cause no protein to be produced at all. | [
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What is (are) Skin Cancer ? ### Doctor:
Skin cancer occurs when cancer cells form in the tissues of the skin. The skin is mainly made up of two layers: the inner layer, called the dermis, and the outer layer, called the epidermis. Within the epidermis, there are three types of cells; squamous cells, basal cells, and melanocytes. There are three types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. The types of cancer are named after the type of cells that are affected. Basal cell carcinoma and squamous cell carcinoma are very common, especially in older people. However, they are rarely life-threatening. Melanoma is a less common, yet more serious, type of cancer. | [
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Is multiple cutaneous and mucosal venous malformations inherited ? ### Doctor:
VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Researchers have discovered that some VMCM lesions have one inherited and one somatic TEK gene mutation. It is not known if the somatic mutation occurs before or after the venous malformation forms. As lesions are localized and not all veins are malformed, it is thought that the inherited mutation alone is not enough to cause venous malformations. In most cases, an affected person has one parent with the condition. | [
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What are the genetic changes related to rapid-onset dystonia parkinsonism ? ### Doctor:
Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Agenesis of the dorsal pancreas ? ### Doctor:
How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed. For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). | [
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What are the symptoms of Turner syndrome ? ### Doctor:
What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. | [
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What is (are) Pituitary Tumors ? ### Doctor:
The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body; however they can make the pituitary gland produce either too many or too few hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. | [
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What is (are) Juvenile myoclonic epilepsy ? ### Doctor:
Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Joint Disorders ? ### Doctor:
A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including - Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged. - Bursitis - inflammation of a fluid-filled sac that cushions the joint - Dislocations - injuries that force the ends of the bones out of position Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. | [
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Subsets and Splits