ORPHA:716825

Congenital myasthenic syndrome due to defects in endplate development and maintenance

Synonyms: Defect in endplate development and maintenance

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 defects in endplate development and maintenance	Defect in endplate development and maintenance
fr	Syndrome myasthénique congénital dus à une annomalie du maintien et développement de la plaque motrice
de	Kongenitales myasthenes Syndrom durch Defekt der postsynaptischen Endplatte	Kongenitales Myastheniesyndrom durch Defekte in der Endplattenentwicklung und -erhaltung
es	Síndrome miasténico congénito por defectos del desarrollo y mantenimiento de la placa terminal	Defecto en el desarrollo y mantenimiento de la placa terminal
it	Sindrome miastenica congenita da difetti nello sviluppo e nel mantenimento della placca terminale	Difetti nello sviluppo e nel mantenimento della placca terminale · Difetto dello sviluppo e del mantenimento della placca terminale
nl	Congenitaal myastheen syndroom door defecten van ontwikkeling en onderhoud van eindplaat	Defect van ontwikkeling en onderhoud van eindplaat · CMS door defecten van ontwikkeling en onderhoud van eindplaat
pt	Congenital myasthenic syndromes due to defects in endplate development and maintenance
pl	Wrodzone zespoły miasteniczne spowodowane defektami rozwoju i utrzymania płytki granicznej	= en
cs	Congenital myasthenic syndrome due to defects in endplate development and maintenance	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	254300	BTNT	validated
OMIM	615120	BTNT	validated
OMIM	616304	BTNT	validated
OMIM	616325	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.

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AGRN	Disease-causing germline mutation(s) in	Assessed	HGNC:329	ENSG00000188157	103320	1p36.33	agrin	22205389[PMID]_19631309[PMID]_20301347[PMID]
DOK7	Disease-causing germline mutation(s) in	Assessed	HGNC:26594	ENSG00000175920	610285	4p16.3	docking protein 7	20301347[PMID]
LRP4	Disease-causing germline mutation(s) in	Assessed	HGNC:6696	ENSG00000134569	604270	11p11.2	LDL receptor related protein 4	24234652[PMID]
MUSK	Disease-causing germline mutation(s) in	Assessed	HGNC:7525	ENSG00000030304	601296	9q31.3	muscle associated receptor tyrosine kinase	20301347[PMID]

0 records

No prevalence record in this release.

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