mitochondrial DNA depletion syndrome 1
Information
- Disease name
- mitochondrial DNA depletion syndrome 1
- Disease ID
- DOID:0080119
- Description
- "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13." [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/19056268, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301358, url:https\://www.omim.org/entry/603041]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0070329
- Cross Reference ID (Disease Ontology)
- GARD:9920
- Cross Reference ID (Disease Ontology)
- MESH:C536350
- Cross Reference ID (Disease Ontology)
- MIM:603041
- Cross Reference ID (Disease Ontology)
- NCI:C11967
- Cross Reference ID (Disease Ontology)
- ORDO:298
- Exact Synonym (Disease Ontology)
- mitochondrial DNA depletion syndrome 1 (MNGIE type)
- Exact Synonym (Disease Ontology)
- mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related