ORPHA:716908

Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Synonyms: Autosomal dominant CMS due to defective synaptic vesicles exocytosis

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	Autosomal dominant CMS due to defective synaptic vesicles exocytosis
fr	Syndrome myasthénique congénital autosomique dominant par défaut d'exocytose des vésicules synaptiques	SMC autosomique dominant par défaut d'exocytose des vésicules synaptiques
de	Autosmal-dominantes kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen	Autosmal-dominantes CMS durch defekte Exozytose synaptischer Vesikel
es	Síndrome miasténico congénito autosómico dominante por defectos en la exocitosis de las vesículas sinápticas	SMC autosómico dominante por defectos en la exocitosis de las vesículas sinápticas
it	Sindrome miastenica congenita autosomica dominante da difetto nell'esocitosi delle vescicole sinaptiche	SMC autosomiche dominanti da difetti nell'esocitosi delle vescicole sinaptiche · CMS autosomica dominante da difetto nell'esocitosi delle vescicole sinaptiche
nl	Autosomaal dominant congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels	Autosomaal dominant CMS door defect van exocytose van synaptische vesikels · Autosomaal dominant CMS door defect in exocytose van synaptische vesikels
pt	Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis
pl	Wrodzone zespoły miasteniczne dziedziczone autosomalnie dominująco z powodu wadliwej egzocytozy pęcherzyków synaptycznych	= en
cs	Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616040	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:716899Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SYT2	Disease-causing germline mutation(s) in	Assessed	HGNC:11510	ENSG00000143858	600104	1q32.1	synaptotagmin 2	25192047[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/716908
This record as JSON: /data/d/716908.json