sarnsrun/medquad huggingface dataset:
Topic: Lafora disease
Question: How to diagnose Lafora disease ?
Answer: How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect "Lafora bodies" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis. GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.
Source: GARD
Topic: Lafora disease
Question: What are the treatments for Lafora disease ?
Answer: How might Lafora disease be treated? Unfortunately, there is currently no cure for Lafora disease or way to slow the progression of the condition. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to managed generalized seizures. In the advanced stages of the condition, a gastrostomy tube may be placed for feeding. Drugs that are known to worsen myoclonus (i.e. phenytoin) are generally avoided. GeneReview's Web site offers more specific information regarding the treatment and management of Lafora disease. Please click on the link to access this resource.
Source: GARD
Topic: Cone-rod dystrophy X-linked 2
Question: What are the symptoms of Cone-rod dystrophy X-linked 2 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. 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) Cone/cone-rod dystrophy - Progressive cone degeneration - 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: Pilocytic astrocytoma
Question: What is (are) Pilocytic astrocytoma ?
Answer: Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.
Source: GARD
Topic: Pilocytic astrocytoma
Question: What are the symptoms of Pilocytic astrocytoma ?
Answer: What are the signs and symptoms of pilocytic astrocytoma?  People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.
Source: GARD
Topic: Pilocytic astrocytoma
Question: What causes Pilocytic astrocytoma ?
Answer: What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.
Source: GARD
Topic: Pilocytic astrocytoma
Question: Is Pilocytic astrocytoma inherited ?
Answer: Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. Although most individuals with a pilocytic astrocytoma do not have an underlying genetic condition, astrocytomas have been associated with a few "predisposing" genetic syndromes. Individuals with these syndromes will not necessarily develop one; these tumors just occur with a greater frequency in affected individuals. Genetic syndromes in which astrocytomas have been reported to occur include: neurofibromatosis type 1 Turcot syndrome Li-Fraumeni syndrome tuberous sclerosis All of these genetic conditions follow an autosomal dominant pattern of inheritance. Individuals who are interested in learning about personal genetic risks for these conditions and/or genetic testing options for themselves or family members should speak with a genetics professional.
Source: GARD
Topic: Pulmonary alveolar proteinosis acquired
Question: What is (are) Pulmonary alveolar proteinosis acquired ?
Answer: Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly; some individuals may not show symptoms, while others may experience progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, the coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present. Most cases occur for no known reason, but some cases may occur secondary to environmental exposures or underlying diseases; some researchers believe it may be an autoimmune disorder. The treatment varies from case to case depending upon the age of the affected individual and severity of the disease. Acquired PAP differs from congenital PAP, an extremely rare form of PAP that occurs in some newborns.
Source: GARD
Topic: Pulmonary alveolar proteinosis acquired
Question: What are the symptoms of Pulmonary alveolar proteinosis acquired ?
Answer: What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. 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) Cyanosis 25% Alveolar proteinosis - Chest pain - Clubbing - Cough - Dyspnea - Hemoptysis - Hypoxemia - Insidious onset - Pneumonia - Polycythemia - Recurrent respiratory infections - Sporadic - 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 alveolar proteinosis acquired
Question: What are the treatments for Pulmonary alveolar proteinosis acquired ?
Answer: How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). The other two-thirds may be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years. In secondary PAP (due to environmental exposure or an underlying disorder), removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms. Inhaled GM-CSF (granulocyte-macrophage colony-stimulating factor), a blood-stimulating medication, has been shown to improve the condition in some individuals with PAP. Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation.
Source: GARD
Topic: Q fever
Question: What is (are) Q fever ?
Answer: Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.
Source: GARD
Topic: Neonatal hemochromatosis
Question: What is (are) Neonatal hemochromatosis ?
Answer: Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
Source: GARD
Topic: Neonatal hemochromatosis
Question: What are the symptoms of Neonatal hemochromatosis ?
Answer: What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. 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 localization of kidney 90% Anteverted nares 90% Aplasia/Hypoplasia of the nipples 90% Blepharophimosis 90% Congenital hepatic fibrosis 90% Hypoglycemia 90% Abnormal bleeding - Autosomal recessive inheritance - Cholestasis - Cirrhosis - Congenital onset - Hepatic failure - Hepatic fibrosis - Hepatocellular necrosis - Increased serum ferritin - Increased serum iron - Intrauterine growth retardation - Nonimmune hydrops fetalis - Oligohydramnios - Prolonged neonatal jaundice - Rapidly progressive - 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: Dihydropyrimidine dehydrogenase deficiency
Question: What is (are) Dihydropyrimidine dehydrogenase deficiency ?
Answer: Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior.  All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.
Source: GARD
Topic: Dihydropyrimidine dehydrogenase deficiency
Question: What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ?
Answer: What are the signs and symptoms of Dihydropyrimidine dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidine dehydrogenase 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) Agenesis of corpus callosum 5% Autism - Autosomal recessive inheritance - Cerebral atrophy - Coloboma - Delayed speech and language development - Failure to thrive - Growth delay - Hyperactivity - Hypertonia - Intellectual disability - Lethargy - Microcephaly - Microphthalmia - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Phenotypic variability - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Tetraplegia - 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: Dihydropyrimidine dehydrogenase deficiency
Question: What causes Dihydropyrimidine dehydrogenase deficiency ?
Answer: What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are building blocks of DNA, RNA, and molecules that serve as energy sources in cells. Mutations in the DPYD gene result in deficiencies (to various degrees) of functional DPD, interfering with the breakdown of uracil and thymine in cells. This results in excessive amounts of uracil and thymine in the blood, urine, and the fluid that surrounds the brain and spinal cord. It is currently poorly understood exactly how this cascade of events causes the signs and symptoms of the condition.
Source: GARD
Topic: Dihydropyrimidine dehydrogenase deficiency
Question: Is Dihydropyrimidine dehydrogenase deficiency inherited ?
Answer: How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD deficiency vary widely in severity; therefore, some people with 2 mutated copies of the gene may have signs and symptoms of the condition, while others may be asymptomatic. However, all individuals with 2 mutations are at risk for toxic reactions to fluoropyrimidine drugs. Individuals who carry one mutated copy of the disease-causing gene (including most parents of affected individuals) are referred to as carriers. Carriers typically do not have signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene may still experience toxic reactions to fluoropyrimidine drugs. When 2 carriers for the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. A child of one carrier parent has a 50% risk to also be a carrier.
Source: GARD
Topic: Dihydropyrimidine dehydrogenase deficiency
Question: How to diagnose Dihydropyrimidine dehydrogenase deficiency ?
Answer: How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.
Source: GARD
Topic: Dihydropyrimidine dehydrogenase deficiency
Question: What are the treatments for Dihydropyrimidine dehydrogenase deficiency ?
Answer: How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life.
Source: GARD
Topic: Bile acid synthesis defect, congenital, 4
Question: What are the symptoms of Bile acid synthesis defect, congenital, 4 ?
Answer: What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. 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 coagulation cascade - Autosomal recessive inheritance - Elevated hepatic transaminases - Failure to thrive - Fat malabsorption - Giant cell hepatitis - Hepatic failure - Hepatomegaly - Hyperbilirubinemia - Intrahepatic cholestasis - Neonatal onset - Prolonged neonatal 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.
Source: GARD
Topic: Osteopetrosis autosomal dominant type 2
Question: What is (are) Osteopetrosis autosomal dominant type 2 ?
Answer: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Source: GARD