Myasthenic syndrome, congenital, 13

Preferred Label : Myasthenic syndrome, congenital, 13;

Symbol : CMS13;

CISMeF acronym : CMSTA2; CMS13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, with tubular aggregates 2; CMSTA2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dolichyl-phosphate N-acetylglucosamine phosphotransferase gene (DPAGT1, 191350.0002);

Laboratory abnormalities : Hypoglycosylated serum transferrin;

Prefixed ID : #614750;

Details

Origin ID

614750;

UMLS CUI

C3553645;

Currated CISMeF NLP mapping
- congenital myasthenic syndrome 13 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 13 [DO Concept]
Genes related to phenotype
- Dolichyl-phosphate n-acetylglucosamine phosphotransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Fatigable weakness [HPO term]
- Hypotonia [HPO term]
- Increased jitter at single fiber EMG [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Muscle fiber tubular inclusions [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [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 13 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndromes with glycosylation defect [ORDO Disease]

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