Myasthenic syndrome, congenital, 14

Preferred Label : Myasthenic syndrome, congenital, 14;

Symbol : CMS14;

CISMeF acronym : CMSTA3; CMS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, with tubular aggregates 3; CMSTA3;

Inheritance : Autosomal recessive;

Molecular basis : Cause by mutation in the homolog of the S. cerevisiae ALG2 gene (ALG2, 607905.0003);

Laboratory abnormalities : Mildly increased serum creatine kinase (in some patients); Serum transferrin shows normal or mild hypo-glycosylation;

Prefixed ID : #616228;

Details

Origin ID

616228;

UMLS CUI

C4015597;

CISMeF manual mappings
- congenital myasthenic syndrome 14 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 14 [DO Concept]
Genes related to phenotype
- Alg2 alpha-1,3/1,6-mannosyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Distal joint laxity [HPO term]
- Fatigable weakness [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Hypotonia [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Motor delay [HPO term]
- Pes planus [HPO term]
- Ragged-red muscle fibers [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndromes with glycosylation defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 14 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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