Myasthenic syndrome, congenital, 16

Preferred Label : Myasthenic syndrome, congenital, 16;

Symbol : CMS16;

CISMeF acronym : CMS16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, acetazolamide-responsive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type IV, alpha subunit gene (SCN4A, 603967.0018);

Laboratory abnormalities : Normal potassium levels;

Prefixed ID : #614198;

Details

Origin ID

614198;

UMLS CUI

C3280112;

Currated CISMeF NLP mapping
- congenital myasthenic syndrome 16 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 16 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 4 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Easy fatigability [HPO term]
- External ophthalmoplegia [HPO term]
- Fatigable weakness [HPO term]
- Gait disturbance [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Ptosis [HPO term]
- Variable expressivity [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 16 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

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