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mitochondrial DNA depletion syndrome 8a
Summary
- Synonym
-
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080127
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008049 | Abnormality of the extraocular muscles |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0012850 | Small intestinal dysmotility |
