Details of Disease | DrugMAP

General Information of Disease (ID: DISEYURW)

Disease Name	Mitochondrial complex IV deficiency, nuclear type 22
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISEYURW: Mitochondrial complex IV deficiency, nuclear type 22
Disease Identifiers	MONDO ID MONDO_0859160 UMLS CUI C5543491 OMIM ID 619355 MedGen ID 1786100

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
COX16	OTEYPTJP	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30.