Details of Disease | DrugMAP

General Information of Disease (ID: DISDEDYH)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 10
Synonyms	MC1DN10; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISDEDYH: Mitochondrial complex 1 deficiency, nuclear type 10
Disease Identifiers	MONDO ID MONDO_0032616 UMLS CUI C4748768 OMIM ID 618233 MedGen ID 1648426

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
NDUFAF2	TTCHGVF	Strong	Autosomal recessive	[1]
NDUFAF2	TTCHGVF	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
NDUFAF2	OTC8QPRS	Strong	Autosomal recessive	[1]
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References

1	The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol Genet Metab. 2008 May;94(1):78-82. doi: 10.1016/j.ymgme.2007.11.013. Epub 2008 Jan 3.
2	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.