combined oxidative phosphorylation deficiency 57

Summary
Synonym
  • COXPD57
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
Super Class
autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
Disease Ontology
DOID:0070430
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54675 CRLS1 cardiolipin synthase 1
The Human Phenotype Ontology
Displaying entries 21 - 30 of 34 in total
HPO ID HPO Term
HP:0008347 Decreased activity of mitochondrial complex IV
HP:0001336 Myoclonus
HP:0011923 Decreased activity of mitochondrial complex I
HP:0001695 Cardiac arrest
HP:0001250 Seizure
HP:0003811 Neonatal death
HP:0011968 Feeding difficulties
HP:0001955 Unexplained fevers
HP:0001263 Global developmental delay
HP:0007110 Central hypoventilation
Displaying 1 entry
Gene ID Gene Symbol Description
54675 CRLS1 cardiolipin synthase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024