Cardiomyopathy, Dilated, 1hh malady
Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases
Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:
cardiomyopathy, dilated, 1hh:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Neuronal diseases, Ear diseases
UniProtKB/Swiss-Prot:69 Cardiomyopathy, dilated 1HH: 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, 1hh, also known as cardiomyopathy, dilated 1hh, is related to bag3-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2 Associated Athanogene 3). Affiliated tissues include heart.
Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the BAG3 gene on chromosome 10q26.11.
Description from OMIM:51 613881
Genetic tests related to Cardiomyopathy, Dilated, 1hh:
MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1hh:35
UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1hh:69
Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1hh:5
Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1hh.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet