familial hypertrophic cardiomyopathy

Summary
Definition
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
Super Class
hypertrophic cardiomyopathy
External Links
Disease Ontology
DOID:0080326
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 56 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
31 ACACA acetyl-CoA carboxylase alpha
33 ACADL acyl-CoA dehydrogenase long chain
37 ACADVL acyl-CoA dehydrogenase very long chain
353 APRT adenine phosphoribosyltransferase
414 ARSD arylsulfatase D
523 ATP6V1A ATPase H+ transporting V1 subunit A
811 CALR calreticulin
1374 CPT1A carnitine palmitoyltransferase 1A
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024