Myasthenic syndrome, congenital, 1b, fast-channel

Preferred Label : Myasthenic syndrome, congenital, 1b, fast-channel;

Symbol : CMS1B;

CISMeF acronym : CMS1B;

Type : Phenotype, molecular basis known;

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. FCCMS is an autosomal recessive form of postsynaptic CMS. For a discussion of genetic heterogeneity of CMS, see 608931. In most cases, FCCMS is caused by recessive gain-of-function mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. FCCMS is the physiologic opposite of slow-channel CMS (SCCMS; 601462), but the 2 disorders cause similar phenotypes. Sine et al. (2003) provided a detailed analysis of the mechanistic diversity underlying fast-channel congenital CMS. Autosomal dominant inheritance has rarely been described.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutations in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (CHRNA1, 100690.0007);

Prefixed ID : #608930;

Details

Origin ID

608930;

UMLS CUI

C4225405;

Automatic exact mappings (from CISMeF team)
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- myasthenic syndromes, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- congenital myasthenic syndrome 1B [DO Concept]
- myasthenic syndrome, congenital, Fast-Channel [MeSH concept]
- myasthenic syndrome, congenital, Fast-Channel [MeSH Supplementary Concept]
DO Cross reference
- congenital myasthenic syndrome 1B [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, alpha polypeptide 1 [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex in severe cases [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Decreased miniature endplate potentials [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Generalized muscle weakness [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Neck muscle weakness [HPO term]
- Neonatal hypotonia [HPO term]
- Ophthalmoparesis [HPO term]
- Poor feeding due to muscle weakness [HPO term]
- Poor suck [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
- Variable expressivity [HPO term]
- Weak cry [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]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients