X-linked dilated cardiomyopathy

Summary
Synonym
  • CMD3B
  • DMD-related dilated cardiomyopathy
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting.
Super Class
X-linked monogenic disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110461
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entry 41 - 41 of 41 in total
Gene ID Gene Symbol Description Source
100507436 MICA MHC class I polypeptide-related sequence A
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

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