Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mitochondrial DNA depletion syndrome 20
Summary
- Synonym
-
- mitochondrial DNA depletion syndrome 20 (MNGIE type)
- Definition
- A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.
- Super Class
- autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0070451
- Mondo Disease Ontology
- OMIM
- 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 |
