fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Olivopontocerebellar atrophy deafness ?
What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. 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) Cerebral cortical atrophy 90% Hearing impairment 90% Hyperreflexia 90% Incoordination 90% Ventriculomegaly 90% Aplasia/Hypoplasia of the cerebellum 50% Nystagmus 50% Chorioretinal coloboma 7.5% EEG abnormality 7.5% Hypertonia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Seizures 7.5% Strabismus 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. + GARD + Olivopontocerebellar atrophy deafness
What is (are) Homocystinuria ?
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder. + GARD + Homocystinuria
What is (are) Lafora disease ?
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Lafora disease
What are the symptoms of Lafora disease ?
What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. The most common feature of Lafora disease is recurrent seizures. Several different types of seizures have been reported including generalized tonic-clonic seizures, occipital seizures (which can cause temporary blindness and visual hallucinations) and myoclonic seizures. These seizures are considered "progressive" because they generally become worse and more difficult to treat over time. With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care. The Human Phenotype Ontology provides the following list of signs and symptoms for Lafora disease. 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 - Absence seizures - Apraxia - Autosomal recessive inheritance - Bilateral convulsive seizures - Cutaneous photosensitivity - Dementia - Gait disturbance - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hepatic failure - Heterogeneous - Myoclonus - Progressive neurologic deterioration - Psychosis - Rapidly progressive - Visual auras - Visual hallucinations - 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. + GARD + Lafora disease
What causes Lafora disease ?
What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease. + GARD + Lafora disease
Is Lafora disease inherited ?
Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an 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 of the parents, and a 25% chance to not have the condition and not be a carrier. + GARD + Lafora disease
How to diagnose Lafora disease ?
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. + GARD + Lafora disease
What are the treatments for Lafora disease ?
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. + GARD + Lafora disease
What are the symptoms of Cone-rod dystrophy X-linked 2 ?
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. + GARD + Cone-rod dystrophy X-linked 2
What is (are) Pilocytic astrocytoma ?
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. + GARD + Pilocytic astrocytoma
What are the symptoms of Pilocytic astrocytoma ?
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. + GARD + Pilocytic astrocytoma
What causes Pilocytic astrocytoma ?
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. + GARD + Pilocytic astrocytoma
Is Pilocytic astrocytoma inherited ?
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. + GARD + Pilocytic astrocytoma
What is (are) Pulmonary alveolar proteinosis acquired ?
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. + GARD + Pulmonary alveolar proteinosis acquired
What are the symptoms of Pulmonary alveolar proteinosis acquired ?
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. + GARD + Pulmonary alveolar proteinosis acquired
What are the treatments for Pulmonary alveolar proteinosis acquired ?
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. + GARD + Pulmonary alveolar proteinosis acquired
What is (are) Q fever ?
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. + GARD + Q fever
What is (are) Neonatal hemochromatosis ?
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 + GARD + Neonatal hemochromatosis
What are the symptoms of Neonatal hemochromatosis ?
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. + GARD + Neonatal hemochromatosis
What is (are) Dihydropyrimidine dehydrogenase deficiency ?
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. + GARD + Dihydropyrimidine dehydrogenase deficiency
What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ?
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. + GARD + Dihydropyrimidine dehydrogenase deficiency