GlyCosmos Portal

dilated cardiomyopathy 1GG

Synonym

Definition

A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.

Super Class

dilated cardiomyopathy monogenic disease

Disease Ontology

DOID:0110435

Mondo Disease Ontology

OMIM

Related Genes

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Gene ID	Gene Symbol	Description	Source
100507436	MICA	MHC class I polypeptide-related sequence A	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 38 in total

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UniProt ID	Protein Name	Source
B0YJ81	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1	DisGeNET
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	DisGeNET
O14561	Acyl carrier protein, mitochondrial	DisGeNET
O75072	Ribitol-5-phosphate transferase FKTN	DisGeNET
O95528	Solute carrier family 2, facilitated glucose transporter member 10	DisGeNET
P00338	L-lactate dehydrogenase A chain	DisGeNET
P00492	Hypoxanthine-guanine phosphoribosyltransferase	DisGeNET
P06858	Lipoprotein lipase	DisGeNET
P07203	Glutathione peroxidase 1	DisGeNET

Displaying entries **11 - 17** of 17 in total

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HPO ID	HPO Term
HP:0012764	Orthopnea
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