Troyer syndrome
Information
- Disease name
- Troyer syndrome
- Disease ID
- DOID:0050886
- Description
- "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene." [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301556]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2476
- Cross Reference ID (Disease Ontology)
- GARD:5372
- Cross Reference ID (Disease Ontology)
- ICD10CM:G11.4
- Cross Reference ID (Disease Ontology)
- MIM:275900
- Cross Reference ID (Disease Ontology)
- ORDO:101000
- Exact Synonym (Disease Ontology)
- autosomal recessive spastic paraplegia 20
- Exact Synonym (Disease Ontology)
- autosomal recessive spastic paraplegia Troyer type
- Exact Synonym (Disease Ontology)
- autosomal recessive spastic paraplegia type 20
- Exact Synonym (Disease Ontology)
- childhood-onset spastic paraparesis with distal muscle wasting
- Exact Synonym (Disease Ontology)
- hereditary spastic paraplegia 20
- Exact Synonym (Disease Ontology)
- spastic paraplegia 20
- Exact Synonym (Disease Ontology)
- spastic paraplegia type 20
- Exact Synonym (Disease Ontology)
- SPG20