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dilated cardiomyopathy 1J

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Uniprot Description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.
Mondo Term and Equivalent IDs
MONDO:0011541:  dilated cardiomyopathy 1J
MESH:C565337: 
Orphanet:217622: 
UMLS:C1854368: