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dilated cardiomyopathy 1GG
Summary
- Synonym
-
- CMD1GG
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110435
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5973 | RENBP | renin binding protein | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
| HP:0002098 | Respiratory distress |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0012664 | Reduced left ventricular ejection fraction |
