Myasthenic syndrome, congenital, 1a, slow-channel

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;

Details

Origin ID

601462;

UMLS CUI

C4084823;

Automatic exact mappings (from CISMeF team)
- CHAT wt Allele [NCIt concept]
- Myasthenic syndrome, congenital, postsynaptic slow-channel [MeSH concept]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- congenital myasthenic syndrome with episodic apnea [MeSH Supplementary Concept]
- myasthenic syndromes, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- congenital myasthenic syndrome 1A [DO Concept]
- congenital myasthenic syndrome 2A [DO Concept]
- myasthenic syndrome, congenital, ie [MeSH concept]
- slow channel congenital myasthenic syndrome [Disease (Nov.)]
DO Cross reference
- congenital myasthenic syndrome 1A [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, alpha polypeptide 1 [OMIM gene]
HPO term(s)
- Anti-neuromuscular Junction acetylcholine receptor antibody positivity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased size of nerve terminals [HPO term]
- Diaphragmatic weakness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fatigable weakness [HPO term]
- Feeding difficulties [HPO term]
- Generalized muscle weakness [HPO term]
- Generalized muscle weakness due to defect at the neuromuscular junction [HPO term]
- Hand muscle atrophy [HPO term]
- High palate [HPO term]
- Impaired mastication [HPO term]
- Infantile onset [HPO term]
- Intermediate young adult onset [HPO term]
- Intermittent episodes of respiratory insufficiency due to muscle weakness [HPO term]
- Intrinsic hand muscle atrophy [HPO term]
- Juvenile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Middle age onset [HPO term]
- Onset [HPO term]
- Ophthalmoparesis [HPO term]
- Ophthalmoplegia [HPO term]
- Prolonged miniature endplate currents [HPO term]
- Ptosis [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
- Upper limb muscle weakness [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 1A [DO Concept]
- slow channel congenital myasthenic syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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