Details of Disease

General Information of Disease (ID: DISX25F4)

Disease Name Epilepsy, familial focal, with variable foci 3
Synonyms
epilepsy, familial focal, with variable foci type 3; FFEVF3; epilepsy, familial focal, with variable foci 3; epilepsy, familial focal, with variable foci caused by mutation in NPRL3; epilepsy, familial focal, with variable foci 3; FFEVF3; NPRL3 epilepsy, familial focal, with variable foci
Definition Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.
Disease Hierarchy
DIS50BKW: Familial focal epilepsy with variable foci
DISX25F4: Epilepsy, familial focal, with variable foci 3
Disease Identifiers
MONDO ID
MONDO_0014925
UMLS CUI
C4310708
OMIM ID
617118
MedGen ID
934675

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
NPRL3 OTS4HE8E Strong Autosomal dominant [1]
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References

1 Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27.