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References OMIM Gene GeneReviews HGMD HGNC
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
Gene mutationChromosome rearrangementEffectComments
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)