dilated cardiomyopathy 1GG

Summary
Synonym
  • CMD1GG
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
Super Class
dilated cardiomyopathy monogenic disease
External Links
Disease Ontology
DOID:0110435
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
157074 Sdha succinate dehydrogenase complex flavoprotein subunit A
The Human Phenotype Ontology
Displaying entries 11 - 17 of 17 in total
HPO ID HPO Term
HP:0003198 Myopathy
HP:0100578 Lipoatrophy
HP:0002098 Respiratory distress
HP:0008314 Decreased activity of mitochondrial complex II
HP:0000007 Autosomal recessive inheritance
HP:0003593 Infantile onset
HP:0012664 Reduced left ventricular ejection fraction
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
70 ACTC1 actin alpha cardiac muscle 1

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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