fenil210/Med-Lamma huggingface dataset:
What causes Anencephaly ?
What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which gives the body instructions to make a protein used to process the vitamin folate (also called vitamin B9). A deficiency of folate is a known risk factor for NTDs. Other genes involved in folate processing, and the development of the neural tube, may also affect the risk. Researchers have also looked at environmental factors that could contribute to the risk of anencephaly. Folate appears to play a significant role, and studies have shown that taking folic acid (a form of folate), before getting pregnant and very early in pregnancy, significantly reduces the risk to have a baby with a NTD. Other possible maternal risk factors for anencephaly include diabetes mellitus; obesity; exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy; and the use of certain anti-seizure medications during pregnancy. + GARD + Anencephaly
Is Anencephaly inherited ?
Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. A small portion of cases have appeared to be familial, but it often does not have a clear inheritance pattern. In isolated populations, anencephaly has been suspected to be due to a single gene. In Iranian Jews, who have high rates of consanguinity (mating with family members), it is inherited in an autosomal recessive manner. Parents who have had a child with anencephaly are at an increased risk to have another affected child (compared with the risk in the general population). Because most cases are believed to be multifactorial (due to interaction of genetic and environmental factors), the recurrence risk is estimated to be between 2% and 5% after a single case. If anencephaly is known to be associated with an underlying disorder, the recurrence risk may depend on that of the underlying disorder. For women who have previously had a fetus or infant with anencephaly, the Centers for Disease Control and Prevention (CDC) recommends increasing the intake of folic acid to 4mg per day beginning at least one month prior to conception. People who have had a pregnancy or child with anencephaly or another NTD, and have questions about future risk, are encouraged to speak with a genetic counselor or other genetics professional. + GARD + Anencephaly
What are the symptoms of Spinocerebellar ataxia 34 ?
What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. 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) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - 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 + Spinocerebellar ataxia 34
What is (are) Microhydranencephaly ?
Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Microhydranencephaly
What are the symptoms of Microhydranencephaly ?
What are the signs and symptoms of Microhydranencephaly? Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms can vary but generally include: Extreme microcephaly Scalp rugae (a series of ridges) Profound developmental delay Severe intellectual disability Spasticity Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). The Human Phenotype Ontology provides the following list of signs and symptoms for Microhydranencephaly. 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 - Athetosis - Autosomal recessive inheritance - Cerebellar hypoplasia - Generalized myoclonic seizures - Hydranencephaly - Hyperreflexia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Macrotia - Microcephaly - Multiple joint contractures - Pachygyria - Prominent nasal bridge - Proptosis - Self-mutilation - Short stature - Skeletal muscle atrophy - Sloping forehead - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - 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 + Microhydranencephaly
What causes Microhydranencephaly ?
What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition. + GARD + Microhydranencephaly
Is Microhydranencephaly inherited ?
Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected 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 have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. + GARD + Microhydranencephaly
How to diagnose Microhydranencephaly ?
How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain). + GARD + Microhydranencephaly
What is (are) Gerstmann-Straussler-Scheinker disease ?
Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages. + GARD + Gerstmann-Straussler-Scheinker disease
What are the symptoms of Gerstmann-Straussler-Scheinker disease ?
What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker 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) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - Weight 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 + Gerstmann-Straussler-Scheinker disease
What causes Gerstmann-Straussler-Scheinker disease ?
What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS. + GARD + Gerstmann-Straussler-Scheinker disease
Is Gerstmann-Straussler-Scheinker disease inherited ?
How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GSS has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Gerstmann-Straussler-Scheinker disease
How to diagnose Gerstmann-Straussler-Scheinker disease ?
How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease) A family history consistent with autosomal dominant inheritance Identification of a disease-causing mutation of the PRNP gene Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing. + GARD + Gerstmann-Straussler-Scheinker disease
What are the treatments for Gerstmann-Straussler-Scheinker disease ?
How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource. + GARD + Gerstmann-Straussler-Scheinker disease
What is (are) Fitz-Hugh-Curtis syndrome ?
Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID).  Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting.  The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well.  FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women.  Fitz-Hugh-Curtis syndrome is treated with antibiotics. + GARD + Fitz-Hugh-Curtis syndrome
What are the treatments for Fitz-Hugh-Curtis syndrome ?
How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth.  The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea.  If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS. + GARD + Fitz-Hugh-Curtis syndrome
What is (are) Psoriatic juvenile idiopathic arthritis ?
Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. + GARD + Psoriatic juvenile idiopathic arthritis
What are the symptoms of Diffuse mesangial sclerosis ?
What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - 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 + Diffuse mesangial sclerosis
What are the symptoms of Renal hypouricemia ?
What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. 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) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - 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 + Renal hypouricemia
What are the symptoms of Lipase deficiency combined ?
What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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 - Autosomal recessive 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 + Lipase deficiency combined
What are the symptoms of Keratolytic winter erythema ?
What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. 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) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - 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 + Keratolytic winter erythema