Myasthenic syndrome, congenital, 3a, slow-channel

Preferred Label : Myasthenic syndrome, congenital, 3a, slow-channel;

Symbol : CMS3A;

CISMeF acronym : CMS3A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0001);

Prefixed ID : #616321;

Details

Origin ID

616321;

UMLS CUI

C4225372;

CISMeF manual mappings
- congenital myasthenic syndrome 3A [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 3A [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, delta polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased miniature endplate potentials [HPO term]
- Delayed ability to sit [HPO term]
- Dysphagia [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Easy fatigability [HPO term]
- Generalized muscle weakness [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Loss of ambulation [HPO term]
- Poor head control [HPO term]
- Progressive [HPO term]
- Prolonged miniature endplate currents [HPO term]
- Ptosis [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 3A [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients