Details of Disease | DrugMAP

General Information of Disease (ID: DISHLDK4)

Disease Name	Combined oxidative phosphorylation deficiency 19
Synonyms	COXPD19; combined oxidative phosphorylation deficiency 19; combined oxidative phosphorylation deficiency type 19; combined oxidative phosphorylation deficiency caused by mutation in LYRM4; LYRM4 combined oxidative phosphorylation deficiency
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISHLDK4: Combined oxidative phosphorylation deficiency 19
Disease Identifiers	MONDO ID MONDO_0014269 UMLS CUI C3810055 OMIM ID 615595 MedGen ID 816385

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
LYRM4	OTK6JCKL	Limited	Unknown	[1]
------------------------------------------------------------------------------------

References

1	Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28.