Details of Disease | DrugMAP

General Information of Disease (ID: DIS8CZJ8)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 24
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS8CZJ8: Mitochondrial complex 1 deficiency, nuclear type 24
Disease Identifiers	MONDO ID MONDO_0032628 UMLS CUI C4748803 OMIM ID 618245 MedGen ID 1648364

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NDUFB9	TTBYJ39	Limited	Autosomal recessive	[1]
NDUFB9	TTBYJ39	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFB9	OTO3WI7S	Limited	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.
2	Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26.