Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0002460 | Distal muscle weakness |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0002922 | Increased CSF protein concentration |
| HP:0003128 | Lactic acidosis |
| HP:0003199 | Decreased muscle mass |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003270 | Abdominal distention |
| HP:0003348 | Hyperalaninemia |
