ORPHA:716893

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

Synonyms: CMS due to defective synthesis or recycling of ACh

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 defective synthesis or recycling of acetylcholine	CMS due to defective synthesis or recycling of ACh
fr	Syndrome myasthénique congénital dû à un défaut de synthèse ou de recyclage de l'acétylcholine
de	Kongenitales myasthenes Syndrom durch gestörte Synthese oder gestörtes Recycling von Acetylcholin	Kongenitales Myastheniesyndrom durch gestörte Synthese oder Wiederverwertung von ACh
es	Síndrome miasténico congénito por defectos de la síntesis o reciclaje de acetilcolina	SMC por defectos de la síntesis o reciclaje de Ach
it	Sindrome miastenica congenita da difetti nella sintesi o nel riciclo dell'acetilcolina	CMS da difetti nella sintesi o nel riciclo dell'Ach · SMC da difetti nella sintesi o nel riciclo di ACh
nl	Congenitaal myastheen syndroom door defect van synthese of recycling van acetylcholine	CMS door defect van synthese of recycling van ACh
pt	Congenital myasthenic syndromes due to defective synthesis or recycling of acetylcholine
pl	Wrodzone zespoły miasteniczne spowodowane defektem syntezy lub recyklingu acetylocholiny	= en
cs	Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	254210	BTNT	validated
OMIM	616224	BTNT	validated
OMIM	617143	BTNT	validated
OMIM	617239	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:98914Presynaptic 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
SLC5A7	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:14025	ENSG00000115665	608761	2q12.3	solute carrier family 5 member 7	27569547[PMID]
CHAT	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1912	ENSG00000070748	118490	10q11.23	choline O-acetyltransferase	20301347[PMID]
PREPL	Disease-causing germline mutation(s) in	Assessed	HGNC:30228	ENSG00000138078	609557	2p21	prolyl endopeptidase like	24610330[PMID]_28726805[PMID]
SLC18A3	Disease-causing germline mutation(s) in	Assessed	HGNC:10936	ENSG00000187714	600336	10q11.23	solute carrier family 18 member A3	27590285[PMID]

0 records

No prevalence record in this release.

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