Details of Disease | DrugMAP

General Information of Disease (ID: DIS3U4PY)

Disease Name	Combined oxidative phosphorylation deficiency 29
Synonyms	combined oxidative phosphorylation deficiency type 29; combined oxidative phosphorylation deficiency 29; COXPD29; TXN2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency caused by mutation in TXN2; combined oxidative phosphorylation deficiency 29; COXPD29
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISG5MW9: Combined oxidative phosphorylation deficiency DISPN7D2: Inherited neurodegenerative disorder DIS3U4PY: Combined oxidative phosphorylation deficiency 29
Disease Identifiers	MONDO ID MONDO_0014781 UMLS CUI C5567607 OMIM ID 616811 MedGen ID 1799030 Orphanet ID 478029 SNOMED CT ID 1172843003

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
TXN2	OTE9A5XQ	Limited	Unknown	[1]
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References

1	The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol Cell Biol. 2003 Feb;23(3):916-22. doi: 10.1128/MCB.23.3.916-922.2003.