Details of Disease | DrugMAP

General Information of Disease (ID: DIS2WTAE)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 28
Synonyms	MC1DN28; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS2WTAE: Mitochondrial complex 1 deficiency, nuclear type 28
Disease Identifiers	MONDO ID MONDO_0032632 UMLS CUI C4748827 OMIM ID 618249 MedGen ID 1648493

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
NDUFA13	TTRU1NG	Limited	Autosomal recessive	[1]
NDUFA13	TTRU1NG	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFA13	OT0UOKIT	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 in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.