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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q96L12 | Calreticulin-3 | |
| Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| Q9P232 | Contactin-3 |
