Myasthenic syndrome, congenital, 2a, slow-channel

Preferred Label : Myasthenic syndrome, congenital, 2a, slow-channel;

Symbol : CMS2A;

CISMeF acronym : CMS2A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, beta polypeptide 1 gene (CHRNB1, 100710.0001);

Prefixed ID : #616313;

Details

Origin ID

616313;

UMLS CUI

C4225374;

CISMeF manual mappings
- congenital myasthenic syndrome 2A [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 2A [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, beta polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Long face [HPO term]
- Myopathy [HPO term]
- Narrow face [HPO term]
- Neonatal hypotonia [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Skeletal muscle atrophy [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 2A [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

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