Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency

Preferred Label : Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency;

Symbol : CMS2C;

CISMeF acronym : CMS2C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, beta polypeptide 1 gene (CHRNB1, 100710.0003);

Prefixed ID : #616314;

Details

Origin ID

616314;

UMLS CUI

C4225373;

CISMeF manual mappings
- congenital myasthenic syndrome 2C [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 2C [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, beta polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Feeding difficulties [HPO term]
- Hypotonia [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Respiratory insufficiency [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 2C [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

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