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mitochondrial DNA depletion syndrome 5
Summary
- Synonym
-
- succinate-CoA ligase deficiency
- 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.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080124
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase | |
| P53597 | Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial | |
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0002514 | Cerebral calcification |
| HP:0000508 | Ptosis |
| HP:0004322 | Short stature |
| HP:0001265 | Hyporeflexia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001251 | Ataxia |
| HP:0006887 | Intellectual disability, progressive |
| HP:0000649 | Abnormality of visual evoked potentials |
