Myasthenic syndrome, congenital, 6, presynaptic

Preferred Label : Myasthenic syndrome, congenital, 6, presynaptic;

Symbol : CMS6;

CISMeF acronym : CMSEA; CMS1A2; CMS6; FIM; FIMG2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; Congenital myasthenic syndrome type ia2; Cms ia2; Myasthenia, familial infantile; CMSEA; FIM; FIMG2; CMS1A2; Myasthenia gravis, familial infantile, 2;

Description : Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS-EA is an autosomal recessive form of presynaptic CMS. For a discussion of genetic heterogeneity of CMS, see 608931. Neonatal myasthenia gravis is a distinct disorder caused by passive transfer of maternal acetylcholine receptor (AChR) autoantibodies to the fetus from a mother with myasthenia gravis (254200).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the choline acetyltransferase gene (CHAT, 118490.0001);

Prefixed ID : #254210;

Details

Origin ID

254210;

UMLS CUI

C0393929;

Automatic exact mappings (from CISMeF team)
- CHAT wt Allele [NCIt concept]
- Familial infantile myasthenia [ICD-11 More detail]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
- ZMYM2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Congenital myasthenic syndrome with episodic apnea [MeSH concept]
- Familial infantile myasthenia (disorder) [SNOMED CT concept]
- Presynaptic Congenital Myasthenic Syndrome 6 [NCIt concept]
- congenital myasthenic syndrome 6 [DO Concept]
- congenital myasthenic syndrome with episodic apnea [MeSH Supplementary Concept]
DO Cross reference
- congenital myasthenic syndrome 6 [DO Concept]
Genes related to phenotype
- Choline acetyltransferase [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Apneic episodes precipitated by illness, fatigue, stress [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex in severe cases [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Congenital onset [HPO term]
- Decreased miniature endplate potentials [HPO term]
- Dysphagia [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Fatigable weakness [HPO term]
- Generalized hypotonia due to defect at the neuromuscular junction [HPO term]
- Heterogeneous [HPO term]
- Ophthalmoparesis [HPO term]
- Poor feeding due to muscle weakness [HPO term]
- Poor suck [HPO term]
- Ptosis [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Strabismus [HPO term]
- Sudden episodic apnea [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myasthenic syndrome with episodic apnea [MeSH concept]
- Familial infantile myasthenia (disorder) [SNOMED CT concept]
- Presynaptic Congenital Myasthenic Syndrome 6 [NCIt concept]
- congenital myasthenic syndrome 6 [DO Concept]
- congenital myasthenic syndrome with episodic apnea [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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