ORPHA:716765
Slow-channel congenital myasthenic syndrome
Synonyms: SCCMS · SCS · Slow-channel syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, 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 | Slow-channel congenital myasthenic syndrome | SCCMS · SCS · Slow-channel syndrome |
| fr | Syndrome myasthénique congénital du canal lent | SCS · Syndrome du canal lent |
| de | Myasthenie-Syndrom, kongenitales, slow-channel | SCCMS · SCS · Slow-Channel-Syndrom |
| es | Síndrome miasténico congénito del canal lento | SMC del canal lento · Síndrome del canal lento |
| it | Sindrome miastenica congenita del canale lento | SCCMS · SCS · Sindrome del canale lento |
| nl | Congenitaal myastheen syndroom door traag kanaal | CMS door traag kanaal · SCCMS · SCS · 'Slow channel'-syndroom · Congenitaal myastheen syndroom door te traag werkend kanaal |
| pt | Slow-channel congenital myasthenic syndromes | |
| pl | Wrodzone zespoły miasteniczne z wolnym kanałem | = en |
| cs | Slow-channel congenital myasthenic syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601462 | BTNT | validated | |
| OMIM | 605809 | BTNT | validated | |
| OMIM | 616313 | BTNT | validated | |
| OMIM | 616321 | 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:716742Congenital myasthenic syndrome with kinetic defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHRNA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1955 | ENSG00000138435 | 100690 | 2q31.1 | cholinergic receptor nicotinic alpha 1 subunit | 20301347[PMID] |
| CHRNB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1961 | ENSG00000170175 | 100710 | 17p13.1 | cholinergic receptor nicotinic beta 1 subunit | 20301347[PMID] |
| CHRND | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1965 | ENSG00000135902 | 100720 | 2q37.1 | cholinergic receptor nicotinic delta subunit | 20301347[PMID] |
| CHRNE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1966 | ENSG00000108556 | 100725 | 17p13.2 | cholinergic receptor nicotinic epsilon subunit | 20301347[PMID] |
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/716765
- This record as JSON: /data/d/716765.json