Cardiomyopathy, Hypertrophic, 10 malady
Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 10:
cardiomyopathy, hypertrophic, 10:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases
UniProtKB/Swiss-Prot:69 Cardiomyopathy, familial hypertrophic 10: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.
MalaCards based summary: Cardiomyopathy, Hypertrophic, 10, also known as cardiomyopathy, familial hypertrophic, 10, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy, ventricular tachycardia and left ventricular septal hypertrophy. An important gene associated with Cardiomyopathy, Hypertrophic, 10 is MYL2 (Myosin Light Chain 2). Affiliated tissues include heart and testes.
Disease Ontology:11 A hypertrophic cardiomyopathy that has material basis in mutation in the MYL2 gene.
Description from OMIM:51 608758
Drugs for Cardiomyopathy, Hypertrophic, 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 31)
Interventional clinical trials:(show all 15)
Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 10
Genetic tests related to Cardiomyopathy, Hypertrophic, 10:
MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 10:35
UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 10:69
Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 10:5
Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 10.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet