Febrile seizures, familial, 4

Preferred Label : Febrile seizures, familial, 4;

Symbol : FEB4;

CISMeF acronym : FEB4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Convulsions, familial febrile, 4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (MASS1, 602851.0001);

Prefixed ID : #604352;

Details

Origin ID

604352;

UMLS CUI

C1858493;

Automatic exact mappings (from CISMeF team)
- adhesion G protein-coupled receptor V1 [ORDO Gene]
- adhesion G protein-coupled receptor V1 [HGNC gene]
- familial febrile seizures 4 [DO Concept]
- febrile convulsions 4 [HGNC gene]
- febrile convulsions, familial, 4 [MeSH Supplementary Concept]
- febrile convulsions, familial, 4 [MeSH concept]
DO Cross reference
- familial febrile seizures 4 [DO Concept]
Genes related to phenotype
- Adhesion g protein-coupled receptor v1 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- Children will develop afebrile seizure disorders later in life [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized tonic seizure [HPO term]
- Heterogeneous [HPO term]
- Hypertonic seizures [HPO term]
- Hypotonic seizures [HPO term]
- Infantile onset [HPO term]
- Onset 3 months of age up to 5 years [HPO term]
- Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause [HPO term]
- Seizures usually last less than 15 minutes [HPO term]
- Seizures, generalized, associated with fever [HPO term]
ORDO concept(s)
- Genetic epilepsy with febrile seizure plus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- febrile convulsions, familial, 4 [MeSH Supplementary Concept]
- febrile convulsions, familial, 4 [MeSH concept]

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