ORPHA:716913
Congenital myasthenic syndrome associated with ubiquitously expressed proteins
Synonyms: CMS associated with ubiquitously expressed proteins
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myasthenic syndrome associated with ubiquitously expressed proteins | CMS associated with ubiquitously expressed proteins |
| fr | Syndrome myasthénique congénital associé à des protéines exprimées de manière ubiquitaire | |
| de | Kongenitales myasthenes Syndrom durch Gendefekt ubiquitär exprimierter Proteine | CMS mit assoziierten Defekten ubiquitär exprimierter Proteine |
| es | Síndrome miasténico congénito asociado a proteínas de expresión ubicua | SMC asociado a proteínas de expresión ubicua |
| it | Sindrome miastenica congenita associata alle proteine espresse ubiquitariamente | SMC associate alle proteine ??espresse ubiquitariamente · CMS associata alle proteine espresse ubiquitariamente |
| nl | Congenitaal myastheen syndroom geassocieerd met alomtegenwoordig tot expressie gebrachte proteïnen | CMS geassocieerd met alomtegenwoordig tot expressie gebrachte proteïnen |
| pt | Ubiquitously expressed proteins associated congenital myasthenic syndromes | |
| pl | Wrodzone zespoły miasteniczne z białkami o powszechnej ekspresji | = en |
| cs | Congenital myasthenic syndrome associated with ubiquitously expressed proteins | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610542 | BTNT | validated | |
| OMIM | 614750 | BTNT | validated | |
| OMIM | 616227 | BTNT | validated | |
| OMIM | 616228 | BTNT | validated | |
| OMIM | 618197 | BTNT | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:590Congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/716913
- This record as JSON: /data/d/716913.json