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mitochondrial DNA depletion syndrome 4b
Summary
- Synonym
-
- mitochondrial neurogastrointestinal encephalopathy syndrome
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080123
- Mondo Disease Ontology
- ORDO
- 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 |
