Details of Disease

General Information of Disease (ID: DISO61ZA)

Disease Name Combined oxidative phosphorylation defect type 11
Synonyms
Encephaloneuromyopathy, infantile, due to mitochondrial translation defect; combined oxidative phosphorylation deficiency 11; RMND1 combined oxidative phosphorylation deficiency; COXPD11; combined oxidative phosphorylation deficiency type 11; combined oxidative phosphorylation deficiency caused by mutation in RMND1; combined oxidative phosphorylation defect type 11
Definition Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISO61ZA: Combined oxidative phosphorylation defect type 11
Disease Identifiers
MONDO ID
MONDO_0013969
UMLS CUI
C5190991
OMIM ID
614922
MedGen ID
1682397
Orphanet ID
324535
SNOMED CT ID
783558004

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
RMND1 OT7I6RBT Strong Autosomal recessive [1]
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References

1 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.