Timbrt/Liver-Text-OA huggingface dataset:
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.
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.
Question: What is (are) LCHAD deficiency ?
Answer: LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]
Question: What are the symptoms of Scleroderma ?
Answer: What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. 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 stomach 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Cheilitis 90% Chest pain 90% Dry skin 90% Gangrene 90% Gingivitis 90% Lack of skin elasticity 90% Muscle weakness 90% Myalgia 90% Nausea and vomiting 90% Restrictive lung disease 90% Skin ulcer 90% Xerostomia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormal tendon morphology 50% Abnormality of the pericardium 50% Arrhythmia 50% Bowel incontinence 50% Chondrocalcinosis 50% Coronary artery disease 50% Cranial nerve paralysis 50% Decreased nerve conduction velocity 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Hypopigmented skin patches 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Nephropathy 50% Pulmonary fibrosis 50% Recurrent urinary tract infections 50% Telangiectasia of the skin 50% Urticaria 50% Weight loss 50% Behavioral abnormality 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Erectile abnormalities 7.5% Gastrointestinal hemorrhage 7.5% Gingival bleeding 7.5% Hematuria 7.5% Hypertrophic cardiomyopathy 7.5% Memory impairment 7.5% Narrow mouth 7.5% Neoplasm of the lung 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Renal insufficiency 7.5% Seizures 7.5% Skeletal muscle atrophy 7.5% Tracheoesophageal fistula 7.5% 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.
Question: What is (are) Rotor syndrome ?
Answer: Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed.
Question: What are the symptoms of Rotor syndrome ?
Answer: What are the signs and symptoms of Rotor syndrome? Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go. The Human Phenotype Ontology provides the following list of signs and symptoms for Rotor 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 the liver 90% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of skin pigmentation - Abnormality of the skeletal system - Autosomal recessive inheritance - Conjugated hyperbilirubinemia - Jaundice - 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.
Question: What causes Rotor syndrome ?
Answer: What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile, and then excreted from the body. The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly. When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice.
Question: How to diagnose Rotor syndrome ?
Answer: How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin. To confirm a disgnosis of Rotor syndrome, a person may have the following performed: testing for serum bilirubin concentration testing for bilirubin in the urine testing for hemolysis and liver enzyme activity (to rule out other conditions) cholescintigraphy (also called an HIDA scan) testing for total urinary porphyrins
Question: What are the treatments for Rotor syndrome ?
Answer: How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people. People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.
Question: What are the treatments for Amyotrophic lateral sclerosis ?
Answer: How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, mainly in those with difficulty swallowing. The drug also extends the time before a patient needs ventilation support. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients (palliative care). This supportive care is typically provided by multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; and home care and hospice nurses. Working with patients and caregivers, these teams can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible.
Question: What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?
Answer: What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. 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 temperature regulation 90% Abnormality of the oral cavity 90% Arthralgia 90% Behavioral abnormality 90% Encephalitis 90% Lymphadenopathy 90% Migraine 90% Recurrent pharyngitis 90% Weight loss 90% Abdominal pain 7.5% Arthritis 7.5% Hepatomegaly 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Splenomegaly 7.5% 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.
Question: What is (are) Ebstein's anomaly ?
Answer: Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The  backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery.
Question: What is (are) Hemangioendothelioma ?
Answer: The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas. Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite. Treatment depends on the type of hemangioendothelioma present but typically includes surgical excision (removal).
Question: What are the symptoms of Primary Familial Brain Calcification ?
Answer: What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. 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 neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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.
Question: What is (are) Chanarin-Dorfman syndrome ?
Answer: Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
Question: What are the symptoms of Chanarin-Dorfman syndrome ?
Answer: What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman 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 blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - 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.
Question: What is (are) Autosomal recessive polycystic kidney disease ?
Answer: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called infantile PKD but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.