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MIRAGE
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
Disease Ontology
DOID:0070430
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54675 CRLS1 cardiolipin synthase 1
The Human Phenotype Ontology
Displaying entries 31 - 34 of 34 in total
HPO ID HPO Term
HP:0000863 Central diabetes insipidus
HP:0003593 Infantile onset
HP:0011504 Bull's eye maculopathy
HP:0001522 Death in infancy
Displaying 1 entry
Gene ID Gene Symbol Description
54675 CRLS1 cardiolipin synthase 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 6, 2026