Preferred Label : Myasthenic syndrome, congenital, 1a, slow-channel;
Symbol : CMS1A;
CISMeF acronym : CMS1A;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Myasthenic syndrome, congenital, type iia; CMS2A; Cms iia;
Description : Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction
that can be classified by the site of the transmission defect: presynaptic, synaptic,
and postsynaptic. SCCMS is an autosomal dominant form of postsynaptic CMS. For a discussion
of genetic heterogeneity of CMS, see 608931.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene
(CHRNA1, 100690.0001);
Prefixed ID : #601462;
Origin ID : 601462;
UMLS CUI : C4084823;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT