Details of Disease

General Information of Disease (ID: DISV3C9P)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 16
Synonyms MC1DN16; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISV3C9P: Mitochondrial complex 1 deficiency, nuclear type 16
Disease Identifiers
MONDO ID
MONDO_0032621
UMLS CUI
C4748785
OMIM ID
618238
MedGen ID
1648351

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
NDUFAF5 OTN5V274 Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.