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Metadata
ID DOID:0080124
Name mitochondrial DNA depletion syndrome 5
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.
https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/24986829, https://www.ncbi.nlm.nih.gov/pubmed/26952923, https://www.omim.org/entry/612073
Xrefs

MESH:C567624

MESH:C580473

OMIM:612073

Synonyms

succinate-CoA ligase deficiency [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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