falan42/medcuad_data huggingface dataset:
Topic: Stomatocytosis I
Question: What are the symptoms of Stomatocytosis I ?
Answer: What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis I. 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 - Hemolytic anemia - Increased intracellular sodium - Increased red cell osmotic fragility - Stomatocytosis - 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: Autoimmune gastrointestinal dysmotility
Question: What is (are) Autoimmune gastrointestinal dysmotility ?
Answer: Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms of AGID may include achalasia,gastroparesis, hypertrophic pyloric stenosis, intestinal pseudo-obstruction, megacolon and anal spasm. Treatment options for AGID includes symptom relief, treatment of any underlying neoplasm if necessary, immunotherapy and supportive treatment. Nutrition and hydration therapy as well as management of abdominal pain are important supportive treatment measures.
(Source: GARD)
Topic: Fingerprint body myopathy
Question: What are the symptoms of Fingerprint body myopathy ?
Answer: What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. 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 - Myopathy - 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: Hypertrichosis congenital generalized X-linked
Question: What are the symptoms of Hypertrichosis congenital generalized X-linked ?
Answer: What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized X-linked. 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) Scoliosis 5% Congenital, generalized hypertrichosis - Hirsutism - X-linked 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: Familial esophageal achalasia
Question: What is (are) Familial esophageal achalasia ?
Answer: Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss. Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.
(Source: GARD)
Topic: Familial esophageal achalasia
Question: What are the symptoms of Familial esophageal achalasia ?
Answer: What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. 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) Achalasia - Autosomal recessive inheritance - Keratoconjunctivitis sicca - Rheumatoid arthritis - Xerostomia - 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: Martinez Monasterio Pinheiro syndrome
Question: What are the symptoms of Martinez Monasterio Pinheiro syndrome ?
Answer: What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro 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 dental morphology 50% Carious teeth 50% Conductive hearing impairment 50% Finger syndactyly 50% Hypertelorism 50% Long palpebral fissure 50% Abnormal hair quantity 7.5% Urogenital fistula 7.5% Anal atresia 5% Autosomal dominant inheritance - Cleft upper lip - Clinodactyly - Conical tooth - Distichiasis - Ectropion of lower eyelids - Hypodontia - Small nail - 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: Catecholaminergic polymorphic ventricular tachycardia
Question: What is (are) Catecholaminergic polymorphic ventricular tachycardia ?
Answer: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age.  If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT.  An Implantable Cardioverter Defibrillator (ICD) may also be needed.
(Source: GARD)
Topic: Catecholaminergic polymorphic ventricular tachycardia
Question: What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ?
Answer: What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. 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) Vertigo 50% Sudden cardiac death 7.5% Autosomal dominant inheritance - Seizures - Sudden death - Syncope - Ventricular tachycardia - 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: Catecholaminergic polymorphic ventricular tachycardia
Question: What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ?
Answer: Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options.
(Source: GARD)
Topic: Ablepharon macrostomia syndrome
Question: What are the symptoms of Ablepharon macrostomia syndrome ?
Answer: What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia 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) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Fine hair 90% Hypoplasia of the zygomatic bone 90% Neurological speech impairment 90% Underdeveloped nasal alae 90% Wide mouth 90% Abnormality of female external genitalia 50% Anteverted nares 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Camptodactyly of finger 50% Cognitive impairment 50% Cryptorchidism 50% Dry skin 50% Hearing impairment 50% Hypoplasia of penis 50% Microdontia 50% Myopia 50% Opacification of the corneal stroma 50% Thin skin 50% Umbilical hernia 50% Visual impairment 50% Abnormality of skin pigmentation 7.5% Atresia of the external auditory canal 7.5% Corneal erosion 7.5% Depressed nasal bridge 7.5% Omphalocele 7.5% Thin vermilion border 7.5% Toe syndactyly 7.5% Short upper lip 5% Talipes equinovarus 5% Ablepharon - Abnormal nasal morphology - Absent eyebrow - Absent eyelashes - Autosomal recessive inheritance - Cryptophthalmos - Delayed speech and language development - Hypertelorism - Microtia, third degree - Ventral hernia - 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: Sacrococcygeal Teratoma
Question: What is (are) Sacrococcygeal Teratoma ?
Answer: A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus.  It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys.  Though it is usually benign, there is a possibility that the teratoma could become malignant.  As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth.  If not all of the tumor is removed during the initial surgery, the teratoma may grow back (recur) and additional surgeries may be needed.  Studies have found that sacrococcygeal teratomas recur in up to 22% of cases.
(Source: GARD)
Topic: Sacrococcygeal Teratoma
Question: What are the treatments for Sacrococcygeal Teratoma ?
Answer: How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8
(Source: GARD)
Topic: Lucey-Driscoll syndrome
Question: What is (are) Lucey-Driscoll syndrome ?
Answer: Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.
(Source: GARD)
Topic: Lucey-Driscoll syndrome
Question: What are the symptoms of Lucey-Driscoll syndrome ?
Answer: What are the signs and symptoms of Lucey-Driscoll syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll 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) Autosomal recessive inheritance - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - 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: Lucey-Driscoll syndrome
Question: What causes Lucey-Driscoll syndrome ?
Answer: What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver.  Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).
(Source: GARD)
Topic: Acute intermittent porphyria
Question: What is (are) Acute intermittent porphyria ?
Answer: Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.
(Source: GARD)
Topic: Acute intermittent porphyria
Question: What causes Acute intermittent porphyria ?
Answer: What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the only gene known to be associated with AIP. However, the deficiency of PBGD alone is not enough to cause AIP. Other activating factors (e.g., hormones, drugs, dietary changes) must also be present.
(Source: GARD)
Topic: Acute intermittent porphyria
Question: Is Acute intermittent porphyria inherited ?
Answer: How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.
(Source: GARD)
Topic: Acute intermittent porphyria
Question: How to diagnose Acute intermittent porphyria ?
Answer: How is acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established. The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.
(Source: GARD)
Topic: Acute intermittent porphyria
Question: What are the treatments for Acute intermittent porphyria ?
Answer: How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid balance and/or correcting electrolyte disturbances, monitoring neurologic status and administering respiratory support. Mild attacks can be manged with increased caloric intake and fluid replacement. Recurrent acute attacks should be managed by a porphyria specialist. Hospitalization is often necessary.  Panhematin, an intravenous medication used to correct heme deficiency, may also be prescribed. More detailed information about the use of Panhematin for the treatment of AIP can be found by clicking here.
(Source: GARD)