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mitochondrial DNA depletion syndrome 8b
Summary
- Synonym
-
- mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0070331
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000726 | Dementia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001155 | Abnormality of the hand |
| HP:0001249 | Intellectual disability |
| HP:0001394 | Cirrhosis |
