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dilated cardiomyopathy 1H
Summary
- Synonym
-
- dilated cardiomyopathy with conduction defect
- Definition
- A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110429
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11556 | Adrb3 | adrenergic receptor, beta 3 | |
| 11739 | Slc25a4 | solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 | |
| 14960 | H2-Aa | histocompatibility 2, class II antigen A, alpha | |
| 14961 | H2-Ab1 | histocompatibility 2, class II antigen A, beta 1 | |
| 21926 | Tnf | tumor necrosis factor | |
| 22067 | Trpc5 | transient receptor potential cation channel, subfamily C, member 5 | |
| 26926 | Aifm1 | apoptosis-inducing factor, mitochondrion-associated 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001727 | Thromboembolic stroke |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0011675 | Arrhythmia |
| HP:0012378 | Fatigue |
