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
Displaying entries 11 - 20 of 41 in total
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
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
Displaying all 3 entries
Gene ID Gene Symbol Description
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin
22845 DOLK dolichol kinase

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Acknowledgements

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Last updated: August 19, 2024