Details of Disease | DrugMAP

General Information of Disease (ID: DIS6YL1O)

Disease Name	Mitochondrial complex III deficiency nuclear type 2
Synonyms	mitochondrial Complex 3 deficiency, nuclear type 2; mitochondrial complex III deficiency, nuclear type 2; mitochondrial complex III deficiency caused by mutation in TTC19; mitochondrial complex III deficiency nuclear type 2; TTC19 mitochondrial complex III deficiency; MC3DN2
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DIS6YL1O: Mitochondrial complex III deficiency nuclear type 2
Disease Identifiers	MONDO ID MONDO_0014063 UMLS CUI C3554605 OMIM ID 615157 MedGen ID 767519

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
TTC19	OTQ0QH1P	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.