Details of Disease | DrugMAP

General Information of Disease (ID: DISHQXQL)

Disease Name	Cardiomyopathy, dilated, 2c
Synonyms	CMD2C; CARDIOMYOPATHY, DILATED, 2C
Definition	A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
Disease Hierarchy	DISBHDU9: Familial dilated cardiomyopathy DISHQXQL: Cardiomyopathy, dilated, 2c
Disease Identifiers	MONDO ID MONDO_0032592 UMLS CUI C4748647 OMIM ID 618189 MedGen ID 1648379

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
PPCS	OT344CQO	Strong	Autosomal recessive	[1]
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References

1	Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.