Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

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Disease Ontology 12 DOID:0110318 OMIM® 57 612124 OMIM Phenotypic Series 57 PS192600 MeSH 44 D024741

MedGen 41 C2677491 CN029460 SNOMED-CT via HPO 68 25569003 263681008 282825002 57809008 85898001 95281009 more UMLS 71 C2677491

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, familial hypertrophic 12: 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, Familial Hypertrophic, 12, also known as cmh12, is related to dermatitis, atopic. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Defensins and NOD-like receptor signaling pathway. Affiliated tissues include heart and breast, and related phenotypes are sudden cardiac death and cardiomyopathy

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the CSRP3 gene on chromosome 11p15.

More information from OMIM: 612124 PS192600

Clinical features from OMIM®:

612124 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 12

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