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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 |
|---|---|---|---|
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6476 | SI | sucrase-isomaltase | |
| 6523 | SLC5A1 | solute carrier family 5 member 1 |
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 |
