Details of Disease | DrugMAP

General Information of Disease (ID: DISQM1PZ)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 25
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISQM1PZ: Mitochondrial complex 1 deficiency, nuclear type 25
Disease Identifiers	MONDO ID MONDO_0032629 UMLS CUI C4748806 OMIM ID 618246 MedGen ID 1648366

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
NDUFB3	OTDV12IF	Definitive	Autosomal recessive	[1]
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References

1	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.