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dilated cardiomyopathy 1AA
Summary
- Synonym
-
- CMD1AA
- dilated cardiomyopathy 1AA with or without left ventricular noncompaction
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110428
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 3958 | LGALS3 | galectin 3 | |
| 4023 | LPL | lipoprotein lipase | |
| 4190 | MDH1 | malate dehydrogenase 1 | |
| 4534 | MTM1 | myotubularin 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q14118 | Dystroglycan 1 | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q6ZVN8 | Hemojuvelin | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase |
- 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 |
