French Canadian Leigh disease

Summary

DOID:0111180 - French Canadian Leigh disease

Disease Ontology 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.

Synonyms: French Canadian type COX deficiency, French Canadian type cytochrome c oxidase deficiency, Saguenay Lac saint Jean type COX deficiency, mitochondrial complex IV deficiency nuclear type 5, French Canadian type Leigh syndrome, Saguenay Lac saint Jean type Leigh syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lrpprc

MIM:

MIM:220111 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5

MIM:220111 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): cytochrome-c oxidase deficiency disease (is_a), Leigh disease (is_a)