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GENATLAS PHENOTYPE

last update : 27-05-2009

Symbol	CMD1C
Location	10q22.3
HGNC id	2103
Name	cardiomyopathy, dilated 1C
Corresponding gene	LDB3
Other symbol(s)	DCCD5, CMPD3
Main clinical features	isolated non-compaction of the left ventricular myocardium, dilated cardiomyopathy, systolic dysfunction, leading cause of congestive heart failure in young patients with premature death
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			D626N

Remark(s)

cardiac dysfunction caused by LDB3 deficiency likely reflects the integrated effects of impairment of sarcomeric structure and alterations in intracellular signaling cascades (Zheng 2009)