sarnsrun/medquad huggingface dataset:
Topic: Beta ketothiolase deficiency
Question: What is (are) Beta ketothiolase deficiency ?
Answer: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the ACAT1 gene.
Source: GARD
Topic: Beta ketothiolase deficiency
Question: What are the symptoms of Beta ketothiolase deficiency ?
Answer: What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase 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) Autosomal recessive inheritance - Dehydration - Episodic ketoacidosis - Intellectual disability - 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: Reticuloendotheliosis
Question: What are the symptoms of Reticuloendotheliosis ?
Answer: What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. 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) Anemia - Hepatosplenomegaly - Infantile onset - Jaundice - Lymphadenopathy - X-linked 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: Phacomatosis pigmentovascularis
Question: What is (are) Phacomatosis pigmentovascularis ?
Answer: Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected. Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting.
Source: GARD
Topic: Phacomatosis pigmentovascularis
Question: What are the symptoms of Phacomatosis pigmentovascularis ?
Answer: What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Examples of associated pigmentary lesions, include: Melanocytic nevi  Epidermal nevi   In addition to the port wine stain and pigmentary lesions, other skin lesions are not uncommon, such as: Nevus anemicus  Cafe-au-lait spots Mongolian spots Nevus of Ota Nevus of Ito Nevus spilus Around half of people with PPV have systemic involvement (i.e., other body systems are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) is common. Ocular melanosis refers to a blue-gray pigmentation in the 'white of the eye' or sclerae. This condition often occurs along with nevus of Ota and may affect one or both eyes. The complications of nevus of Ota are glaucoma and melanoma, as a result people with nevus of Ota require careful examination and follow-up by an opthamologist. Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules. Some individuals with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Signs and symptoms of Sturge-Weber syndrome include a large port-wine stain facial birthmark, blood vessel abnormalities in the brain called leptomeningeal angiomas, as well as glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Klippel-Trenaunay syndrome is characterized by a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. You can learn more about Sturge-Weber syndrome on our Web site at the following link: http://rarediseases.info.nih.gov/GARD/Condition/7706/Sturge_Weber_syndrome.aspx You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link: http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome  A variety of other symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular cell tumors, and selective IgA deficiency). Conditions associated with PPV can vary greatly from person to person and can be difficult to predict.
Source: GARD
Topic: Phacomatosis pigmentovascularis
Question: What causes Phacomatosis pigmentovascularis ?
Answer: What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.
Source: GARD
Topic: Phacomatosis pigmentovascularis
Question: How to diagnose Phacomatosis pigmentovascularis ?
Answer: How might phacomatosis pigmentovascularis be diagnosed? Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions.
Source: GARD
Topic: Phacomatosis pigmentovascularis
Question: What are the treatments for Phacomatosis pigmentovascularis ?
Answer: How might phacomatosis pigmentovascularis be treated? If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus. Medical treatment of PPV with systemic complications requires individualized plans and often assistance from a team of specialists (e.g., opthamologist, neurologist, and vascular specialist).
Source: GARD
Topic: Mucoepidermoid carcinoma
Question: What is (are) Mucoepidermoid carcinoma ?
Answer: Mucoepidermoid carcinoma is a type of cancer of the salivary glands.  Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas.   Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump).  The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing.  Treatment often begins with surgery to remove the entire tumor.  In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body.
Source: GARD
Topic: Cerulean cataract
Question: What is (are) Cerulean cataract ?
Answer: Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.
Source: GARD
Topic: Cerulean cataract
Question: What are the symptoms of Cerulean cataract ?
Answer: What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. 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) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual 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.
Source: GARD
Topic: Cerulean cataract
Question: What are the treatments for Cerulean cataract ?
Answer: How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.
Source: GARD
Topic: Fryns Hofkens Fabry syndrome
Question: What are the symptoms of Fryns Hofkens Fabry syndrome ?
Answer: What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry 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) Ulnar deviation of finger 90% Autosomal dominant inheritance - Distal ulnar hypoplasia - Dysplastic radii - Hypoplasia of the radius - Mesomelic arm shortening - Radial bowing - Ulnar deviation of the hand - 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: Microcephaly cervical spine fusion anomalies
Question: What are the symptoms of Microcephaly cervical spine fusion anomalies ?
Answer: What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. 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 ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - 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: Multiple mitochondrial dysfunctions syndrome
Question: What is (are) Multiple mitochondrial dysfunctions syndrome ?
Answer: Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Multiple mitochondrial dysfunctions syndrome
Question: What are the symptoms of Multiple mitochondrial dysfunctions syndrome ?
Answer: What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions 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 mitochondrial metabolism - Autosomal recessive inheritance - Cerebral atrophy - Congenital onset - Death in infancy - Decreased activity of mitochondrial respiratory chain - Dilated cardiomyopathy - Encephalopathy - Epileptic encephalopathy - Failure to thrive - Feeding difficulties - Hepatomegaly - High palate - Hypoplasia of the corpus callosum - Intrauterine growth retardation - Lactic acidosis - Lethargy - Metabolic acidosis - Microcephaly - Muscle weakness - Polyhydramnios - Polymicrogyria - Pulmonary hypertension - Respiratory failure - Retrognathia - Seizures - Severe muscular hypotonia - Vomiting - Wide intermamillary distance - 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: Pyridoxine-dependent epilepsy
Question: What is (are) Pyridoxine-dependent epilepsy ?
Answer: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.
Source: GARD
Topic: Pyridoxine-dependent epilepsy
Question: What are the symptoms of Pyridoxine-dependent epilepsy ?
Answer: What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. 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 metabolism/homeostasis 90% Abnormality of movement 90% Cognitive impairment 90% EEG abnormality 90% Neurological speech impairment 90% Seizures 90% Muscular hypotonia 50% Cerebral cortical atrophy 7.5% Hepatomegaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Delayed speech and language development - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Intellectual disability - Neonatal respiratory distress - Prenatal movement abnormality - Respiratory distress - Status epilepticus - 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