FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myasthenic syndrome 11 ID (Ontology) DOID:0110675 (Human Disease)
Definition 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.
Also Known As "CMS Ie" ; "CMS11" ; "CMS1E" (for all, see Synonyms field below)
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 Genes
 congenital myasthenic syndrome 11       1
 for disease ribbon | congenital myasthenic syndrome 11       1
 model of | congenital myasthenic syndrome 11       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 11  1 rec.
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Is a autosomal recessive disease
congenital myasthenic syndrome
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Synonyms
  • "CMS Ie" EXACT OMO:0003012
    "CMS11" EXACT OMO:0003012
    "CMS1E" EXACT OMO:0003012
    "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT
    "congenital myasthenic syndrome 1e" EXACT
Secondary IDs
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MIM:616326