Details of Disease | DrugMAP

General Information of Disease (ID: DIST3PXS)

Disease Name	Mitochondrial complex III deficiency nuclear type 8
Synonyms	MC3DN8; mitochondrial Complex 3 deficiency, nuclear type 8; mitochondrial complex III deficiency, nuclear type 8; mitochondrial complex III deficiency nuclear type 8; LYRM7 mitochondrial complex III deficiency; mitochondrial complex III deficiency caused by mutation in LYRM7
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DIST3PXS: Mitochondrial complex III deficiency nuclear type 8
Disease Identifiers	MONDO ID MONDO_0014364 UMLS CUI C4014440 OMIM ID 615838 MedGen ID 862877

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
LYRM7	OT9O7UZE	Strong	Autosomal recessive	[1]
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References

1	A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23.