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.