Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency

Preferred Label : Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency;

Symbol : CMS4C;

CISMeF acronym : CMS1D; CMS4C; FIM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FIM1; Myasthenic syndrome, congenital, type id; CMS1D; Cms id; Myasthenia, familial infantile, 1;

Description : Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site of the transmission defect: presynaptic, synaptic, or postsynaptic. Presynaptic CMS with episodic ataxia (254210) is caused by mutation in the CHAT gene (118490), and synaptic acetylcholinesterase (AChE) deficiency (603034) is caused by mutation in the COLQ gene (603033). Postsynaptic disorders can be divided into 2 kinetic defects, fast-channel (608930) and slow-channel (601462) CMS, and a third disorder, AChR deficiency. Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). See also CMS caused by mutation in the SCN4A sodium channel gene (603967); familial limb-girdle myasthenic syndrome (254300), caused by mutation in the DOK7 (610285) or agrin (AGRN; 103320) genes; and limb-girdle myasthenia with tubular aggregates (610542), caused by mutation in the GFPT1 gene (138292) on chromosome 2p13. See also NOMENCLATURE below.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, epsilon polypeptide gene (CHRNE, 100725.0004);

Prefixed ID : #608931;

Details

Origin ID

608931;

UMLS CUI

C1837091;

Automatic exact mappings (from CISMeF team)
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- fim 1 [MeSH Supplementary Concept]
- myasthenia, familial infantile, 1 [MeSH concept]
- myasthenia, familial infantile, 1 [MeSH Supplementary Concept]
- receptor associated protein of the synapse [ORDO Gene]
CISMeF manual mappings
- congenital myasthenic syndrome 4C [DO Concept]
Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome-4C [NCIt concept]
- Myasthenic syndrome, congenital, type id [MeSH concept]
- myasthenic syndrome, congenital, type id [MeSH Supplementary Concept]
DO Cross reference
- congenital myasthenic syndrome 4C [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, epsilon polypeptide [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex in severe cases [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Decreased muscle mass [HPO term]
- Decreased size of nerve terminals [HPO term]
- Dental malocclusion [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Fatigable weakness [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness due to defect at the neuromuscular junction [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Long face [HPO term]
- Mandibular prognathia [HPO term]
- Motor delay [HPO term]
- Muscle spasm [HPO term]
- Nonprogressive [HPO term]
- Ophthalmoparesis [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Strabismus [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]
UMLS correspondences (same concept)
- Congenital Myasthenic Syndrome-4C [NCIt concept]
- Myasthenic syndrome, congenital, type id [MeSH concept]
- congenital myasthenic syndrome 4C [DO Concept]
- myasthenic syndrome, congenital, type id [MeSH Supplementary Concept]
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