ORPHA:716772

Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance

Synonyms: CMS with kinetic defect due to reduced ion channel conductance

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance	CMS with kinetic defect due to reduced ion channel conductance
fr	Syndrome myasthénique congénital avec défaut cinétique dû à une conductance réduite de canal ionique
de	Kongenitales myasthenes Syndrom mit kinetischem Defekt durch verminderte Ionenkanalleitfähigkeit	CMS mit kinetischem Defekt aufgrund einer verminderten Ionenkanalleitfähigkeit
es	Síndrome miasténico congénito con defecto cinético por baja conductancia del canal iónico	SMC con defecto cinético por baja conductancia del canal iónico
it	Sindrome miastenica congenita con difetto cinetico da riduzione della conduttanza del canale ionico	CMS con difetto cinetico da riduzione della conduttanza del canale ionico
nl	Congenitaal myastheen syndroom met kinetisch defect door verminderde geleiding van ionkanaal	CMS met kinetisch defect door verminderde geleiding van ionkanaal
pt	Congenital myasthenic syndromes with kinetic defect due to reduced ion channel conductance
pl	Wrodzone zespoły miasteniczne z defektem kinetycznym spowodowanym zmniejszonym przewodnictwem kanałów jonowych	= en
cs	Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:716742Congenital myasthenic syndrome with kinetic defect
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
CHRNE	Disease-causing germline mutation(s) in	Assessed	HGNC:1966	ENSG00000108556	100725	17p13.2	cholinergic receptor nicotinic epsilon subunit	22382357[PMID]

0 records

No prevalence record in this release.

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