Details of Disease

General Information of Disease (ID: DISRSXN5)

Disease Name Hypertrophic cardiomyopathy 26
Synonyms
cardiomyopathy, familial restrictive, 5; CMH26; cardiomyopathy, familial hypertrophic, 26; cardiomyopathy, familial restrictive 5; cardiomyopathy, familial hypertrophic, type 26; hypertrophic cardiomyopathy caused by mutation in FLNC; cardiomyopathy familial hypertrophic 26; hypertrophic cardiomyopathy type 26; FLNC hypertrophic cardiomyopathy
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISRSXN5: Hypertrophic cardiomyopathy 26
Disease Identifiers
MONDO ID
MONDO_0014883
UMLS CUI
C4310749
OMIM ID
617047
MedGen ID
934716

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
FLNC OT3F8J6Y Strong Autosomal dominant [1]
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References

1 FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 Apr;57(4):254-257. doi: 10.1136/jmedgenet-2019-106394. Epub 2020 Jan 10.