mitochondrial DNA depletion syndrome 5

Summary

DOID:0080124 - mitochondrial DNA depletion syndrome 5

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.

Synonyms: succinate-CoA ligase deficiency

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

: sucla2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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

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

Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)