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 11 - 20 of 56 in total
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
1738 DLD dihydrolipoamide dehydrogenase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2194 FASN fatty acid synthase
2218 FKTN fukutin
2548 GAA alpha glucosidase
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

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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