French Canadian Leigh disease

Summary
Synonym
  • French Canadian type COX deficiency
  • French Canadian type Leigh syndrome
  • French Canadian type cytochrome c oxidase deficiency
  • Saguenay Lac saint Jean type COX deficiency
  • Saguenay Lac saint Jean type Leigh syndrome
  • mitochondrial complex IV deficiency nuclear type 5
Definition
A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
Super Class
cytochrome-c oxidase deficiency disease
External Links
Disease Ontology
DOID:0111180
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5742 PTGS1 prostaglandin-endoperoxide synthase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P23219 Prostaglandin G/H 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