Details of Disease

General Information of Disease (ID: DISSFQFF)

Disease Name Febrile seizures, familial, 4
Synonyms convulsions, familial febrile, 4; FEB4; febrile seizures, familial caused by mutation in ADGRV1; febrile seizures, familial, type 4; febrile seizures, familial, 4; ADGRV1 febrile seizures, familial
Definition Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.
Disease Hierarchy
DISZCC8H: Acute repetitive seizure
DISSFQFF: Febrile seizures, familial, 4
Disease Identifiers
MONDO ID
MONDO_0011443
MESH ID
C565788
UMLS CUI
C1858493
OMIM ID
604352
MedGen ID
347652

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADGRV1 OTLVXHHP Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.