ORPHA:716881

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

Synonyms: CMS due to a sodium channel 1.4 defect · Na channel myasthenia · Sodium channel myasthenia

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome due to a sodium channel 1.4 defect	CMS due to a sodium channel 1.4 defect · Na channel myasthenia · Sodium channel myasthenia
fr	Syndrome myasthénique congénital dû à une annomalie du canal sodium 1.4
de	Kongenitales myasthenes Syndrom durch Natriumkanal 1.4-Defekt	CMS durch Defekt des Natriumkanals 1.4 · Na-Kanal-Myasthenie · Natriumkanal-Myasthenie
es	Síndrome miasténico congénito por defectos del canal de sodio 1.4	Miastenia por el canal de Na · Miastenia por el canal de sodio · SMC por defecto del canal de sodio 1.4
it	Sindrome miastenica congenita da difetto del canale del sodio 1.4	Miastenia correlata al canale Na · CMS da difetto del canale del sodio 1.4 · SMC da difetto del canale del sodio 1.4 · Miastenia correlata al canale del Na · Miastenia correlata al canale del sodio
nl	Congenitaal myastheen syndroom door defect van natriumkanaal 1.4	CMS door defect van natriumkanaal 1.4 · Myasthenie door natriumkanaal · Myasthenie door Na-kanaal
pt	Congenital myasthenic syndromes due to a sodium channel 1.4 defect
pl	Wrodzone zespoły miasteniczne spowodowane defektem kanału sodowego 1.4	= en
cs	Congenital myasthenic syndrome due to a sodium channel 1.4 defect	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614198	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:98913Postsynaptic congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SCN4A	Disease-causing germline mutation(s) in	Assessed	HGNC:10591	ENSG00000007314	603967	17q23.3	sodium voltage-gated channel alpha subunit 4	20301347[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.