Details of Disease | DrugMAP

General Information of Disease (ID: DISML9YM)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 6
Synonyms	MC1DN6; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISML9YM: Mitochondrial complex 1 deficiency, nuclear type 6
Disease Identifiers	MONDO ID MONDO_0032611 UMLS CUI C4748759 OMIM ID 618228 MedGen ID 1648496

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NDUFS2	DEKX5CD	Strong	Autosomal recessive	[1]
NDUFS2	DEKX5CD	Strong	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
NDUFS2	OTBT8KW9	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.
2	Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet. 2017 May;54(5):346-356. doi: 10.1136/jmedgenet-2016-104212. Epub 2016 Dec 28.