Details of Disease

General Information of Disease (ID: DIS06G6V)

Disease Name Progressive myoclonic epilepsy type 6
Synonyms
epilepsy, progressive myoclonic, 6; GOSR2 progressive myoclonic epilepsy; PME type 6; epilepsy, progressive myoclonic 6; EPM6; progressive myoclonic epilepsy caused by mutation in GOSR2; GOSR2-related progressive myoclonus ataxia; progressive myoclonus epilepsy type 6; North Sea progressive myoclonus epilepsy; epilepsy, progressive myoclonic, type 6
Definition Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DIS06G6V: Progressive myoclonic epilepsy type 6
Disease Identifiers
MONDO ID
MONDO_0013526
UMLS CUI
C5190805
OMIM ID
614018
MedGen ID
1681379
Orphanet ID
280620
SNOMED CT ID
783062001

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
GOSR2 OTYHIYN2 Strong Autosomal recessive [1]
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References

1 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5.