Details of Disease

General Information of Disease (ID: DIS2Q29T)

Disease Name Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Disease Hierarchy
DISX6N3H: Mitochondrial proton-transporting ATP synthase complex deficiency
DIS2Q29T: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Disease Identifiers
MONDO ID
MONDO_0957254
UMLS CUI
C5830480
OMIM ID
620358
MedGen ID
1841116

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
ATP5F1A OT3FZDLX Strong Autosomal dominant [1]
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References

1 A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6.