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mitochondrial DNA depletion syndrome

Summary

Synonym

mtDNA depletion syndrome

Definition

A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

Super Class

mitochondrial metabolism disease

External Links

Disease Ontology

DOID:0070329

Mondo Disease Ontology

MONDO:0018158

ORDO

35698

OMIM

PS603041

GARD

13643

Related Genes

Displaying entries **11 - 13** of 13 in total

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Gene ID	Gene Symbol	Description	Source
8526	DGKE	diacylglycerol kinase epsilon	DisGeNET
8802	SUCLG1	succinate-CoA ligase GDP/ADP-forming subunit alpha	DisGeNET
8803	SUCLA2	succinate-CoA ligase ADP-forming subunit beta	DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
27376	Slc25a10	solute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 9** entries
UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O75390	Citrate synthase, mitochondrial	DisGeNET
P09874	Poly [ADP-ribose] polymerase 1	DisGeNET
P16070	CD44 antigen	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	DisGeNET
P53597	Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial	DisGeNET
Q99798	Aconitate hydratase, mitochondrial	DisGeNET
Q9P2R7	Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial	DisGeNET