GlyCosmos Portal

dilated cardiomyopathy 1X

Synonym

Definition

A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.

Super Class

autosomal recessive disease dilated cardiomyopathy

Disease Ontology

DOID:0110444

Mondo Disease Ontology

OMIM

Related Genes

Displaying entry **41 - 41** of 41 in total

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

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
246179	Fktn	fukutin	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
362520	Fktn	fukutin	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
100006345	fktn	fukutin	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
495324	fktn.S	fukutin S homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)
100124956	fktn	fukutin	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
173469	T07D3.4	Fukutin;Nucleotidyltransferase family protein	Alliance of Genome Resources
188207	T07A5.1	Uncharacterized protein	Alliance of Genome Resources
189104	W02B3.4	Uncharacterized protein	Alliance of Genome Resources

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	Glyco-Disease Genes Database DisGeNET 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 - 20** of 22 in total

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HPO ID	HPO Term
HP:0012764	Orthopnea
HP:0100578	Lipoatrophy
HP:0003391	Gowers sign
HP:0003701	Proximal muscle weakness
HP:0011462	Young adult onset
HP:0003596	Middle age onset
HP:0000007	Autosomal recessive inheritance
HP:0008981	Calf muscle hypertrophy
HP:0003557	Increased variability in muscle fiber diameter
HP:0012664	Reduced left ventricular ejection fraction