giant axonal neuropathy 1
Information
- Disease name
- giant axonal neuropathy 1
- Disease ID
- DOID:0090068
- Description
- "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23." [url:https\://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30709364, url:https\://www.omim.org/entry/256850]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:7319
- Cross Reference ID (Disease Ontology)
- MESH:D056768
- Cross Reference ID (Disease Ontology)
- MIM:256850
- Cross Reference ID (Disease Ontology)
- ORDO:643