Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

Preferred Label : Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;

Symbol : CMS11;

CISMeF acronym : CMS1E; CMS11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cms ie; CMS1E; Myasthenic syndrome, congenital, ie;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor-associated protein of the synapse, 43-kD gene (RAPSN, 601592.0001);

Prefixed ID : #616326;

Details

Origin ID

616326;

UMLS CUI

C4225367;

Automatic exact mappings (from CISMeF team)
- RAPSN wt Allele [NCIt concept]
- myasthenic syndrome, congenital, ie [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, ie [MeSH concept]
- receptor associated protein of the synapse [ORDO Gene]
CISMeF manual mappings
- congenital myasthenic syndrome 11 [DO Concept]
Currated CISMeF NLP mapping
- Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency [NCIt concept]
DO Cross reference
- congenital myasthenic syndrome 11 [DO Concept]
Genes related to phenotype
- Receptor-associated protein of the synapse, 43-kd [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Easy fatigability [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Long face [HPO term]
- Neonatal hypotonia [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)
- Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency [NCIt concept]
- congenital myasthenic syndrome 11 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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