Details of Disease

General Information of Disease (ID: DISV4XOJ)

Disease Name Episodic pain syndrome, familial, 2
Synonyms FEPS2; episodic pain syndrome, familial, type 2; familial episodic pain syndrome caused by mutation in SCN10A; episodic pain syndrome, familial, 2; SCN10A familial episodic pain syndrome
Definition Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.
Disease Hierarchy
DISOD1KW: Familial episodic pain syndrome
DISV4XOJ: Episodic pain syndrome, familial, 2
Disease Identifiers
MONDO ID
MONDO_0014246
UMLS CUI
C3809893
OMIM ID
615551
MedGen ID
816223

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN10A TT90XZ8 Limited Autosomal dominant [1]
SCN10A TT90XZ8 Limited Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN10A OTPCGJAC 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.
2 Genetics of Brugada syndrome.J Arrhythm. 2016 Oct;32(5):418-425. doi: 10.1016/j.joa.2016.07.012. Epub 2016 Sep 12.