ORPHA:719880

Congenital myasthenic syndrome due to acetylcholine receptor clustering defect

Synonyms: CMS due to acetylcholine receptor clustering defect

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 acetylcholine receptor clustering defect	CMS due to acetylcholine receptor clustering defect
fr	Syndrome myasthénique congénital par défaut de regroupement des récepteurs de l'acétylcholine	SMC par défaut de regroupement des récepteurs de l'acétylcholine
de	Kongenitales myasthenes Syndrom durch Acetylcholinrezeptor-Mangel	RAPSN-assoziiertes CMS · CMS durch AChR-Defizienz
es	Síndrome miasténico congénito por defecto de agrupación de receptores de acetilcolina	SMC por defecto de agrupación de receptores de acetilcolina
it	Sindrome miastenica congenita da difetto del raggruppamento dei recettori dell'acetilcolina	CMS da difetto del raggruppamento dei recettori dell'acetilcolina
nl	Congenitaal myastheen syndroom door clusteringdefect van acetylcholinereceptor	CMS door clusteringdefect van acetylcholinereceptor
pt	Congenital myasthenic syndrome due to defects in acetylcholine receptor clustering
pl	Congenital myasthenic syndrome due to acetylcholine receptor clustering defect	= en
cs	Congenital myasthenic syndrome due to acetylcholine receptor clustering defect	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616326	BTNT		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.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AK9	Disease-causing germline mutation(s) in	Assessed	HGNC:33814	ENSG00000155085	615358	6q21	adenylate kinase 9	27966543[PMID]
CHRND	Disease-causing germline mutation(s) in	Assessed	HGNC:1965	ENSG00000135902	100720	2q37.1	cholinergic receptor nicotinic delta subunit	16916845[PMID]
RAPSN	Disease-causing germline mutation(s) in	Assessed	HGNC:9863	ENSG00000165917	601592	11p11.2	receptor associated protein of the synapse	20301347[PMID]

0 records

No prevalence record in this release.

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