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 1A ID (Ontology) DOID:0110663 (Human Disease)
Definition A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
Also Known As "CMS IIa" ; "CMS1A" ; "congenital myasthenic syndrome 1A, slow-channel" (for all, see Synonyms field below)
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 Genes
 congenital myasthenic syndrome 1A       7
 for disease ribbon | congenital myasthenic syndrome 1A       7
 model of | congenital myasthenic syndrome 1A       7
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 1A  7 rec.
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Is a autosomal dominant disease
congenital myasthenic syndrome
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Synonyms
  • "CMS IIa" EXACT OMO:0003012
    "CMS1A" EXACT OMO:0003012
    "congenital myasthenic syndrome 1A, slow-channel" EXACT
    "congenital myasthenic syndrome type IIa" EXACT
Secondary IDs
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MIM:601462