Details of Disease

General Information of Disease (ID: DISVVUSK)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 12
Synonyms MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12; mitochondrial complex i deficiency, nuclear type 12, X-linked recessive
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISVVUSK: Mitochondrial complex 1 deficiency, nuclear type 12
Disease Identifiers
MONDO ID
MONDO_0026720
UMLS CUI
C4746984
OMIM ID
301020
MedGen ID
1648278

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
NDUFA1 OTKBUQXP Strong X-linked [1]
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References

1 SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. Ann Neurol. 2004 Aug;56(2):182-91. doi: 10.1002/ana.20175.