Details of Disease | DrugMAP

General Information of Disease (ID: DISC5W3K)

Disease Name	Combined oxidative phosphorylation defect type 21
Synonyms	combined oxidative phosphorylation deficiency 21; TARS2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 21; combined oxidative phosphorylation deficiency caused by mutation in TARS2; COXPD21
Definition	Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISC5W3K: Combined oxidative phosphorylation defect type 21
Disease Identifiers	MONDO ID MONDO_0014398 UMLS CUI C4706316 OMIM ID 615918 MedGen ID 1638633 Orphanet ID 420733 SNOMED CT ID 763211004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TARS2	OTXQY23P	Strong	Autosomal recessive	[1]
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References

1	VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.