Myasthenic syndrome, congenital, 8

Preferred Label : Myasthenic syndrome, congenital, 8;

Symbol : CMS8;

CISMeF acronym : CMSPPD; CMS8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMSPPD; Myasthenic syndrome, congenital, with pre- and postsynaptic defects; Myasthenic syndrome, congenital, due to agrin deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the agrin gene (AGRN, 103320.0001);

Prefixed ID : #615120;

Details

Origin ID

615120;

UMLS CUI

C3808739;

CISMeF manual mappings
- congenital myasthenic syndrome 8 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 8 [DO Concept]
Genes related to phenotype
- Agrin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- High palate [HPO term]
- Muscle weakness [HPO term]
- Narrow chest [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 8 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]

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