Cardiomyopathy, Dilated, 1i malady
Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases
Aliases & Descriptions for Cardiomyopathy, Dilated, 1i:
cardiomyopathy, dilated, 1i:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Neuronal diseases, Ear diseases
UniProtKB/Swiss-Prot:69 Cardiomyopathy, dilated 1I: 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, 1i, also known as cardiomyopathy, dilated 1i, is related to des-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including dilated cardiomyopathy and reduced systolic function. An important gene associated with Cardiomyopathy, Dilated, 1i is DES (Desmin). Affiliated tissues include heart.
Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the DES gene on chromosome 2q35.
Description from OMIM:51 604765
Genetic tests related to Cardiomyopathy, Dilated, 1i:
MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1i:35
UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1i:69
Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1i:5
Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1i.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet