Cardiomyopathy, Dilated, 1r malady
Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases
Aliases & Descriptions for Cardiomyopathy, Dilated, 1r:
cardiomyopathy, dilated, 1r:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Neuronal diseases, Ear diseases
UniProtKB/Swiss-Prot:69 Cardiomyopathy, dilated 1R: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
MalaCards based summary: Cardiomyopathy, Dilated, 1r, also known as left ventricular noncompaction 4, is related to actc1-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including left ventricular hypertrophy, restrictive cardiomyopathy and ventricular arrhythmia. An important gene associated with Cardiomyopathy, Dilated, 1r is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart.
Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the ACTC1 gene on chromosome 15q14.
Description from OMIM:51 613424
Human phenotypes related to Cardiomyopathy, Dilated, 1r:63
Interventional clinical trials:
Search NIH Clinical Center for Cardiomyopathy, Dilated, 1r
MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1r:35
UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1r:69
Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1r:5
Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1r.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet