ORPHA:716899
Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
Synonyms: CMS due to defective synaptic vesicles exocytosis
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis | CMS due to defective synaptic vesicles exocytosis |
| fr | Syndrome myasthénique congénital dû à un defaut d'exocytose des vésicules synaptiques | |
| de | Kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen | Kongenitales Myastheniesyndrom durch defekte Exozytose synaptischer Vesikel |
| es | Síndrome miasténico congénito por defectos en la exocitosis de las vesículas sinápticas | SMC por defectos en la exocitosis de las vesículas sinápticas |
| it | Sindrome miastenica congenita da difetto nell'esocitosi delle vescicole sinaptiche | CMS da difetto nell'esocitosi delle vescicole sinaptiche · SMC da difetti nellesocitosi delle vescicole sinaptiche |
| nl | Congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels | CMS door defect van exocytose van synaptische vesikels |
| pt | Congenital myasthenic syndromes due to defective synaptic vesicles exocytosis | |
| pl | Wrodzone zespoły miasteniczne z powodu wadliwej egzocytozy pęcherzyków synaptycznych | = en |
| cs | Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616040 | BTNT | validated | |
| OMIM | 616330 | BTNT | validated | |
| OMIM | 618323 | BTNT | validated | |
| OMIM | 619461 | BTNT | validated | |
| OMIM | 621455 | NTBT | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
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
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/716899
- This record as JSON: /data/d/716899.json