Details of Disease | DrugMAP

General Information of Disease (ID: DISH91ZM)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 30
Synonyms	MC1DN30; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISH91ZM: Mitochondrial complex 1 deficiency, nuclear type 30
Disease Identifiers	MONDO ID MONDO_0026721 UMLS CUI C4746985 OMIM ID 301021 MedGen ID 1648313

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
NDUFB11	OTFG5777	Strong	X-linked	[1]
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References

1	A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.