Details of Disease

General Information of Disease (ID: DISTF31X)

Disease Name Hypertrophic cardiomyopathy 9
Synonyms
TTN hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic, 9; hypertrophic cardiomyopathy caused by mutation in TTN; cardiomyopathy, familial hypertrophic, type 9; hypertrophic cardiomyopathy type 9; CMH9
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISDHBZ4: Autosomal dominant titinopathy
DISTF31X: Hypertrophic cardiomyopathy 9
Disease Identifiers
MONDO ID
MONDO_0013412
UMLS CUI
C1861065
OMIM ID
613765
MedGen ID
348780

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
TTN OT0LZ058 Moderate Autosomal dominant [1]
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References

1 Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. doi: 10.1161/CIRCGENETICS.116.001431. Epub 2016 Sep 13.