Cardiomyopathy, Hypertrophic, 2 malady
Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 2:
cardiomyopathy, hypertrophic, 2:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases
UniProtKB/Swiss-Prot:69 Cardiomyopathy, familial hypertrophic 2: 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.
MalaCards based summary: Cardiomyopathy, Hypertrophic, 2, also known as cardiomyopathy, familial hypertrophic, 2, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 2 is TNNT2 (Troponin T2, Cardiac Type). Affiliated tissues include heart, testes and breast.
Disease Ontology:11 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).
Description from OMIM:51 115195
Drugs for Cardiomyopathy, Hypertrophic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 88)
Interventional clinical trials:(show top 50) (show all 65)
Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 2
Genetic tests related to Cardiomyopathy, Hypertrophic, 2:
MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 2:35
Heart, Testes, Breast, Skeletal muscle, Brain
UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 2:69 (show all 18)
Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 2:5
Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 2.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet