dilated cardiomyopathy 1E

Summary
Synonym
  • CDCD2
  • CMD1E
  • dilated cardiomyopathy with conduction defect 2
  • dilated cardiomyopathy with conduction disorder and arrhythmia
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110433
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 41 in total
Gene ID Gene Symbol Description Source
37 ACADVL acyl-CoA dehydrogenase very long chain
622 BDH1 3-hydroxybutyrate dehydrogenase 1
1120 CHKB choline kinase beta
1376 CPT2 carnitine palmitoyltransferase 2
1605 DAG1 dystroglycan 1
1636 ACE angiotensin I converting enzyme
2194 FASN fatty acid synthase
2218 FKTN fukutin
2720 GLB1 galactosidase beta 1
2876 GPX1 glutathione peroxidase 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
22845 DOLK dolichol kinase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024