Druvith/medqa huggingface dataset:
What is (are) MTHFR gene mutation ? 

MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. Some rare MTHFR gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly). Common MTHFR gene mutations (such as C677T and A1298C) lead to a milder reduction in enzyme function. People with two copies of C677T or one copy of C677T and one copy of A1298C may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. Many people who inherit these mutations never develop one of the associated conditions.
What are the symptoms of MTHFR gene mutation ? 

What are the signs and symptoms of MTHFR gene mutations? People with MTHFR gene mutations may develop elevated levels of homocysteine in their blood (homocysteinemia) or urine (homocystinuria). Risks for health effects vary depending on the levels of homocysteine. A few cases of severe homocysteinemia have been due to rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). Symptoms in these patients varied greatly but often involved pronounced neurological symptoms and blood vessel disease. The age of the patients when they first experienced symptoms varied from infancy to adulthood. Common MTHFR gene mutations cause less severe, although still significantly raised levels of homocysteine. The most well studied MTHFR mutation, is C677T. An estimated 11% of Americans carry two copies of this mutation. People with two copies of C677T have higher homocysteine levels, than those without the mutation (people with one copy of C677T may have mildly raised homocysteine levels).  Many studies have investigated the health effects of high homocysteine levels and/or having two C677T MTHFR gene mutations. Some studies suggest that an elevated level of homocysteine in the blood is associated with an increased risk for heart disease, including coronary heart disease and stroke. Specifically, studies have estimated that people with two C677T MTHFR mutations have a 16% higher chance of developing coronary heart disease, when compared to people without these mutations. Weaker associations have been suggested between high homocysteine levels and narrowing of the carotid arteries (the arteries on each side of your neck), blood clots in deep veins (often in the lower leg and thigh), a sudden blockage in a lung artery, and pregnancy complications (such as preeclampsia, placental abruption, fetal growth restriction, stillbirth, and neural tube defects). Studies involving MTHFR and homocysteine and the following conditions have been completed, but with conflicting and varied results:* Hypertension Hyperlipidemia Psoriasis Infertility Recurrent pregnancy loss Downs syndrome Spina bifida Parkinson disease Alzheimer disease Migraine Cerebral venous thrombosis Psychiatric disorders Schizophrenia Breast cancer Cervical cancer Ovarian cancer Esophageal cancer Oral cancer Liver cancer Pancreatic cancer Prostate cancer Bladder cancer Lung cancer Stomach cancer Colorectal cancer Acute lymphoblastic leukemia *This is not an exhaustive list of all studies involving MTHFR and health effects.
Is MTHFR gene mutation inherited ? 

How is a MTHFR gene mutation inherited? Because each person has two copies of the MTHFR gene, people can inherit one copy of the MTHFR mutation or two copies (one from each parent). People who inherit two copies of a common MTHFR gene mutation (for example two C677T mutations or a C677T mutation and a A1298C mutation) may have an increased risk for certain conditions such as coronary artery disease, blood clots, and stroke when compared to those without the mutations and elevated homocystine levels. Coronary artery disease, blood clots, and stroke are all complex conditions and are caused by a combination of many genetic and environmental factors. Some rare MTHFR gene mutations can lead to homocystinuria, which is inherited in an autosomal recessive manner. Visit our "Homocystinuria due to MTHFR deficiency" webpage.
How to diagnose MTHFR gene mutation ? 

Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
What are the treatments for MTHFR gene mutation ? 

How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin). It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered. We recommend that you talk to your doctor to learn if supplementation would benefit you. Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
What are the symptoms of Lambdoid synostosis ? 

What are the signs and symptoms of Lambdoid synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lambdoid synostosis. 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) Craniosynostosis 90% Plagiocephaly 90% External ear malformation 50% Frontal bossing 50% Muscular hypotonia 50% Blepharophimosis 7.5% Chin dimple 7.5% Cognitive impairment 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hydrocephalus 7.5% Hypertonia 7.5% Round ear 7.5% Telecanthus 7.5% Macrocephaly 5% Pansynostosis 5% Short nose 5% Autosomal dominant inheritance - Flat occiput - Hypoplasia of midface - Lambdoidal craniosynostosis - Malar flattening - Posterior plagiocephaly - 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. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Dementia familial British ? 

What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. 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 - Cerebral amyloid angiopathy - Dementia - Hypertonia - Progressive neurologic deterioration - Rigidity - Spasticity - Tremor - 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. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ? 

What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. 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 dental enamel 90% Aminoaciduria 90% Cognitive impairment 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Microdontia 90% Short stature 90% Type II diabetes mellitus 90% Autosomal recessive inheritance - Diabetes mellitus - Hypoplasia of dental enamel - Lactic acidosis - Severe short stature - 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. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Juvenile primary lateral sclerosis ? 

Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.
What are the symptoms of Juvenile primary lateral sclerosis ? 

What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile primary lateral sclerosis. 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 pyramidal signs 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Muscle weakness 90% Pseudobulbar signs 90% Feeding difficulties in infancy 50% Neurological speech impairment 50% Abnormality of the urinary system 7.5% Skeletal muscle atrophy 7.5% Abnormal upper motor neuron morphology - Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Childhood onset - Difficulty in tongue movements - Dysphagia - Juvenile onset - Pseudobulbar behavioral symptoms - Saccadic smooth pursuit - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - Spasticity of facial muscles - Spasticity of pharyngeal muscles - 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. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Juvenile primary lateral sclerosis ? 

What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.
Is Juvenile primary lateral sclerosis inherited ? 

How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis 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.
What is (are) Sarcoidosis ? 

Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. The granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. Although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system. The course of the disease varies from person to person. It often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. For those who need treatment, anti-inflammatory medications and immunosuppressants can help.
What are the symptoms of Sarcoidosis ? 

What are the signs and symptoms of Sarcoidosis? Many people who have sarcoidosis don't have symptoms. Others may feel like they are coming down with the flu or a respiratory infection. While almost any body part or system can be affected, the lungs are most commonly involved. If granulomas form in the lungs, symptoms may include shortness of breath (dyspnea), a cough that won't go away, and chest pain. Some people feel very tired, uneasy, or depressed. Night sweats and weight loss are also common.      Sarcoidosis can also cause the following:   Skin rashes, ulcers or discoloration   Joint stiffness or pain   Enlarged lymph nodes   Enlarged liver or spleen   Vision problems, eye dryness or irritation   Headaches, seizures, or weakness on one side of the face   Aches and pains in the muscles and bones   Abnormal heart beats   Kidney stones The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcoidosis. 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) Hepatomegaly 7.5% Splenomegaly 7.5% Optic neuropathy 5% Abnormality of the mouth - Anorexia - Arthritis - Blurred vision - Bone cyst - Cough - Dyspnea - Elevated erythrocyte sedimentation rate - Enlarged lacrimal glands - Exaggerated cellular immune processes - Fever - Generalized lymphadenopathy - Glaucoma - Hypercalciuria - Increased antibody level in blood - Inflammation of the large intestine - Interstitial pulmonary disease - Iridocyclitis - Pancytopenia - Photophobia - Weight loss - 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. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Sarcoidosis ? 

What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.
What are the treatments for Sarcoidosis ? 

What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on :  the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. Others may not need to be treated. Usually, if a patient doesn't have symptoms, he or she doesn't need treatment, and probably will recover in time. Currently, the drug that is most commonly used to treat sarcoidosis is prednisone.  When a patient's condition gets worse when taking prednisone or when the side effects of prednisone are severe in the patient, a doctor may prescribe other drugs. Most of these other drugs reduce inflammation by suppressing the immune system. These other drugs include: hydroxychloroquine (Plaquenil), methotrexate, azathioprine (Imuran), and cyclophosphamide (Cytoxan). Researchers continue to look for new and better treatments for sarcoidosis. Anti-tumor necrosis factor drugs and antibiotics are currently being studied. More detailed information about the treatment of sarcoidosis can be found at the following links: https://www.stopsarcoidosis.org/awareness/treatment-options/ http://emedicine.medscape.com/article/301914-treatment#showall
What is (are) Dwarfism ? 

Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.
How to diagnose Dwarfism ? 

How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be "cured." Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional.