Details of Disease

General Information of Disease (ID: DIS56GKJ)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 14
Synonyms MC1DN14; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DIS56GKJ: Mitochondrial complex 1 deficiency, nuclear type 14
Disease Identifiers
MONDO ID
MONDO_0032619
UMLS CUI
C4748777
OMIM ID
618236
MedGen ID
1648440

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
NDUFA11 OTZXD1UK Strong Autosomal recessive [1]
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References

1 Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332.