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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 |
|---|---|---|---|
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3958 | LGALS3 | galectin 3 | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 5067 | CNTN3 | contactin 3 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5289 | PIK3C3 | phosphatidylinositol 3-kinase catalytic subunit type 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
Related Glycoprotein
