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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:0001403 | Macrovesicular hepatic steatosis |
| HP:0001824 | Weight loss |
| HP:0001903 | Anemia |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002018 | Nausea |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002027 | Abdominal pain |
| HP:0002352 | Leukoencephalopathy |
