sarnsrun/medquad huggingface dataset:
Topic: Mitochondrial neurogastrointestinal encephalopathy syndrome
Question: How to diagnose Mitochondrial neurogastrointestinal encephalopathy syndrome ?
Answer: How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following:  A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L). This is sufficient to make the diagnosis of MNGIE disease. Thymidine phosphorylase enzyme activity in leukocytes (white blood cells) less than 10% of the control mean. Genetic testing of TYMP, the gene for thymidine phosphorylase (the enzyme deficient in individuals with MNGIE syndrome), detects mutations in approximately all of affected individuals.
Source: GARD
Topic: Mitochondrial neurogastrointestinal encephalopathy syndrome
Question: What are the treatments for Mitochondrial neurogastrointestinal encephalopathy syndrome ?
Answer: How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011.
Source: GARD
Topic: Larynx, congenital partial atresia of
Question: What are the symptoms of Larynx, congenital partial atresia of ?
Answer: What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. 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 voice 90% Laryngomalacia 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Short stature 50% Autosomal dominant inheritance - Laryngeal obstruction - Laryngeal web - 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: Gonadal dysgenesis, XX type
Question: What are the symptoms of Gonadal dysgenesis, XX type ?
Answer: What are the signs and symptoms of Gonadal dysgenesis, XX type? The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX type. 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) Polycystic ovaries 90% Primary amenorrhea 90% Sensorineural hearing impairment 90% Cerebral cortical atrophy 50% Short stature 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cognitive impairment 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Nystagmus 7.5% Oculomotor apraxia 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Ptosis 7.5% Scoliosis 7.5% Secondary amenorrhea 7.5% Areflexia 5% Cerebellar atrophy 5% Dysarthria 5% Hyporeflexia 5% Motor delay 5% Sensorimotor neuropathy 5% Spastic diplegia 5% Autosomal recessive inheritance - Gait ataxia - Gonadal dysgenesis - High palate - Increased circulating gonadotropin level - Limited extraocular movements - Osteoporosis - Pes cavus - Phenotypic variability - Talipes equinovarus - 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: Pulmonary edema of mountaineers
Question: What are the symptoms of Pulmonary edema of mountaineers ?
Answer: What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. 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 - Elevated pulmonary artery pressure - Pulmonary edema - 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: Synostoses, tarsal, carpal, and digital
Question: What are the symptoms of Synostoses, tarsal, carpal, and digital ?
Answer: What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. 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) Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Carpal synostosis - Metacarpophalangeal synostosis - Radial head subluxation - Short metacarpal - Tarsal synostosis - Underdeveloped nasal alae - 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: Hereditary fructose intolerance
Question: What is (are) Hereditary fructose intolerance ?
Answer: Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.
Source: GARD
Topic: Hereditary fructose intolerance
Question: What are the symptoms of Hereditary fructose intolerance ?
Answer: What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary fructose intolerance. 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 - Autosomal recessive inheritance - Bicarbonaturia - Cirrhosis - Coma - Elevated hepatic transaminases - Failure to thrive - Fructose intolerance - Gastrointestinal hemorrhage - Glycosuria - Hepatic steatosis - Hepatomegaly - Hyperbilirubinemia - Hyperphosphaturia - Hyperuricemia - Hyperuricosuria - Hypoglycemia - Hypophosphatemia - Intellectual disability - Jaundice - Lactic acidosis - Lethargy - Malnutrition - Metabolic acidosis - Nausea - Proximal renal tubular acidosis - Proximal tubulopathy - Seizures - Transient aminoaciduria - Vomiting - 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: Hereditary fructose intolerance
Question: What causes Hereditary fructose intolerance ?
Answer: What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time.
Source: GARD
Topic: Hereditary fructose intolerance
Question: Is Hereditary fructose intolerance inherited ?
Answer: How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition.
Source: GARD
Topic: Hereditary fructose intolerance
Question: What are the treatments for Hereditary fructose intolerance ?
Answer: How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat. http://www.bu.edu/aldolase/HFI/treatment/ Additional information on foods to avoid if you have HFI is available from the Mayo clinic. http://www.mayoclinic.com/health/fructose-intolerance/AN01574
Source: GARD
Topic: Congenital anosmia
Question: What is (are) Congenital anosmia ?
Answer: Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain). Scientists suspect that isolated congenital anosmia occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Unfortunately, there is currently no known cure or treatment for congenital anosmia.
Source: GARD
Topic: Congenital anosmia
Question: What are the symptoms of Congenital anosmia ?
Answer: 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. 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: Congenital anosmia
Question: What causes Congenital anosmia ?
Answer: What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.
Source: GARD
Topic: Congenital anosmia
Question: Is Congenital anosmia inherited ?
Answer: Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.
Source: GARD
Topic: Congenital anosmia
Question: How to diagnose Congenital anosmia ?
Answer: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain
Source: GARD
Topic: Congenital anosmia
Question: What are the treatments for Congenital anosmia ?
Answer: How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia.
Source: GARD
Topic: Deafness, dystonia, and cerebral hypomyelination
Question: What are the symptoms of Deafness, dystonia, and cerebral hypomyelination ?
Answer: What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . 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) Optic atrophy 5% Seizures 5% Abnormal facial shape - Abnormal pyramidal signs - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Dystonia - Failure to thrive - Intellectual disability - Microcephaly - Sensorineural hearing impairment - Strabismus - Tetraplegia - X-linked recessive 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. 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: Johnston Aarons Schelley syndrome
Question: What are the symptoms of Johnston Aarons Schelley syndrome ?
Answer: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% 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