Details of Disease | DrugMAP

General Information of Disease (ID: DISJ7BPQ)

Disease Name	Hypertrophic cardiomyopathy 18
Synonyms	cardiomyopathy, familial hypertrophic, 18; cardiomyopathy, familial hypertrophic, type 18; cardiomyopathy familial hypertrophic 18; CMH18; cardiomyopathy, hypertrophic, 18; hypertrophic cardiomyopathy type 18; hypertrophic cardiomyopathy caused by mutation in PLN; PLN hypertrophic cardiomyopathy
Definition	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
Disease Hierarchy	DISQG2AI: Hypertrophic cardiomyopathy DISQ89HN: Familial hypertrophic cardiomyopathy DISJ7BPQ: Hypertrophic cardiomyopathy 18
Disease Identifiers	MONDO ID MONDO_0013475 UMLS CUI C3151265 OMIM ID 613874 MedGen ID 462615

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
PLN	TTMCVJF	Strong	Autosomal dominant	[1]
PLN	TTMCVJF	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLN	OTT3RRJN	Strong	Autosomal dominant	[1]
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References

1	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.