(Q18987134)

English

combined oxidative phosphorylation deficiency

Human disease

mitochondrial disorder due to a defect in mitochondrial protein synthesis
COXPD
Combined OXPHOS deficiency
Combined oxidative phosphorylation defect
Combined OXPHOS defect

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Statements

instance of

rare disease

0 references

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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mitochondrial disease

1 reference

30 November 2020

mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

NARS2

1 reference

stated in

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

EARS2

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FARS2

1 reference

stated in

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

MTO1

1 reference

stated in

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

TARS2

1 reference

stated in

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

LYRM4

1 reference

stated in

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

SFXN4

1 reference

stated in

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

MRPS22

1 reference

stated in

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

ATP5F1A

1 reference

stated in

Targeted exome sequencing of suspected mitochondrial disorders

PNPT1

1 reference

stated in

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

GTPBP3

1 reference

stated in

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

MRPS16

1 reference

stated in

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

MRPL3

1 reference

stated in

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

MTRFR

1 reference

stated in

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

AIFM1

1 reference

stated in

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

ELAC2

1 reference

stated in

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

GFM1

1 reference

stated in

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

RMND1

1 reference

stated in

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

TUFM

1 reference

stated in

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

TSFM

1 reference

stated in

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

MTFMT

1 reference

stated in

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

MRPL44

1 reference

stated in

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

AARS2

1 reference

stated in

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

MIPEP

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000027001/Orphanet_35696

based on heuristic

inferred from an Open Targets association score over 0.7

MRPS34

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000074071/Orphanet_35696

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060286

1 reference

29 November 2021

http://identifiers.org/doid/DOID:0060286

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_35696

0 references

Identifiers

0 references

1 reference

29 November 2021

2 references

Monarch Disease Ontology release 2018-06-29

27 July 2018

28 August 2019

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

(Q18987134)

combined oxidative phosphorylation deficiency

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