General Information of Disease (ID: DISG204L)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 21
Synonyms MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISG204L: Mitochondrial complex 1 deficiency, nuclear type 21
Disease Identifiers
MONDO ID
MONDO_0032625
UMLS CUI
C4748792
OMIM ID
618242
MedGen ID
1648383

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
NUBPL OTQMCSXT Strong Autosomal recessive [1]
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References

1 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.