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GENATLAS PHENOTYPE

last update : 13-07-2018

Symbol	CMD1PP
Location	1p34.2
Name	dilated cardiomyopathy 1PP
Corresponding gene	PPCS
Main clinical features	dilated cardiomyopathy, with variable degree of severity and no neurodegeneration, often fatal in early childhood
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
Type	disease

Remark(s)

reduced cytosolic CoA concentration in PPCS-affected individuals may lead to a reduced synthesis of activated long-chain fatty acids in PPCS-affected individuals (PMID: 29754768))