sarnsrun/medquad huggingface dataset:
Topic: Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
Question: What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?
Answer: What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - 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.
Source: GARD
Topic: Infundibulopelvic dysgenesis
Question: What are the symptoms of Infundibulopelvic dysgenesis ?
Answer: What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic dysgenesis. 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) Multicystic kidney dysplasia 90% Abdominal pain - Autosomal dominant inheritance - Microscopic hematuria - 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.
Source: GARD
Topic: Jejunal atresia
Question: What is (are) Jejunal atresia ?
Answer: Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.
Source: GARD
Topic: Jejunal atresia
Question: What are the symptoms of Jejunal atresia ?
Answer: What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. 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 recessive inheritance - Jejunal atresia - 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.
Source: GARD
Topic: Jejunal atresia
Question: What causes Jejunal atresia ?
Answer: What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Jejunal atresia typically occurs sporadically in people with no family history of the condition. In these cases, the exact underlying cause is generally unknown; however, scientists suspect that it may be a consequence of disrupted blood flow in the developing fetus. Rarely, more than one family member can be affected by jejunal atresia, suggesting that there may be a genetic component in some cases.
Source: GARD
Topic: Jejunal atresia
Question: Is Jejunal atresia inherited ?
Answer: Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.
Source: GARD
Topic: Jejunal atresia
Question: How to diagnose Jejunal atresia ?
Answer: How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis.
Source: GARD
Topic: Jejunal atresia
Question: What are the treatments for Jejunal atresia ?
Answer: How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.
Source: GARD
Topic: Livedoid vasculopathy
Question: What is (are) Livedoid vasculopathy ?
Answer: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.
Source: GARD
Topic: Livedoid vasculopathy
Question: What are the treatments for Livedoid vasculopathy ?
Answer: How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. Treatments will also be given to address any co-occurring conditions such as lupus or thrombophilia. Drugs that aim to improve blood flow or prevent blood clotting may also be considered. Examples of these treatments, include: Antiplatelet agents (e.g. aspirin, dipyridamole) Fibrinolytic agents (e.g. danazol, tissue plasminogen activator) Anticoagulant agents (e.g. subcutaneous heparin injections, oral warfarin) Pentoxifylline Low-dose danazol (200 mg/day orally) Hyperbaric oxygen Pulsed intravenous immunoglobulin Iloprost Ketanserin Psoralen plus ultraviolet A (PUVA) therapy Niacin (nicotinic acid) Sulfapyridine Guanethidine Currently there are no established guidelines for treatment. Decisions for treatment are made based on the clinicians clinical experience and specific patient characteristics. We strongly recommend that you discuss this information and your treatment options further with a trusted healthcare professional.
Source: GARD
Topic: Caudal appendage deafness
Question: What are the symptoms of Caudal appendage deafness ?
Answer: What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage 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) Abnormality of the pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 50% 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.
Source: GARD
Topic: MTHFR gene mutation
Question: What is (are) MTHFR gene mutation ?
Answer: 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.
Source: GARD
Topic: MTHFR gene mutation
Question: What are the symptoms of MTHFR gene mutation ?
Answer: 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.
Source: GARD
Topic: MTHFR gene mutation
Question: Is MTHFR gene mutation inherited ?
Answer: 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.
Source: GARD
Topic: MTHFR gene mutation
Question: How to diagnose MTHFR gene mutation ?
Answer: 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.
Source: GARD
Topic: MTHFR gene mutation
Question: What are the treatments for MTHFR gene mutation ?
Answer: 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.
Source: GARD
Topic: Pelizaeus-Merzbacher-like disease
Question: What are the symptoms of Pelizaeus-Merzbacher-like disease ?
Answer: What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. 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) Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebral atrophy - Cerebral hypomyelination - Choreoathetosis - Cognitive impairment - Decreased motor nerve conduction velocity - Demyelinating motor neuropathy - Dysarthria - Dystonia - Facial palsy - Head titubation - Infantile onset - Intention tremor - Leukodystrophy - Motor delay - Muscular hypotonia of the trunk - Myopia - Optic atrophy - Poor speech - Progressive spasticity - Rigidity - Rotary nystagmus - Seizures - Sensory axonal neuropathy - Spastic paraparesis - 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.
Source: GARD
Topic: Myelofibrosis
Question: What is (are) Myelofibrosis ?
Answer: Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery.
Source: GARD