congenital myasthenic syndrome 11
Information
- Disease name
- congenital myasthenic syndrome 11
- Disease ID
- DOID:0110675
- Description
- "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12651869, url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3635
- Cross Reference ID (Disease Ontology)
- MIM:616326
- Exact Synonym (Disease Ontology)
- CMS Ie
- Exact Synonym (Disease Ontology)
- CMS11
- Exact Synonym (Disease Ontology)
- CMS1E
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome 1e