mitochondrial DNA depletion syndrome

Term ID

DOID:0070329

Synonyms

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. (5)

References

GARD:13643
OMIM:PS603041
ORDO:35698

Ontology

Human Disease ( DOID:0070329 )

Relationships

is a type of: mitochondrial metabolism disease

mitochondrial metabolism disease Show first 5 Terms
has subtype: Alpers-Huttenlocher syndrome mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 2 mitochondrial DNA depletion syndrome 3 mitochondrial DNA depletion syndrome 4b ... Show All 24 Terms

Alpers-Huttenlocher syndrome mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 2 mitochondrial DNA depletion syndrome 3 mitochondrial DNA depletion syndrome 4b mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 6 mitochondrial DNA depletion syndrome 7 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 8b mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome 12a mitochondrial DNA depletion syndrome 12b mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome 14 mitochondrial DNA depletion syndrome 15 mitochondrial DNA depletion syndrome 16 mitochondrial DNA depletion syndrome 16B mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 20 Sengers syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations