ORPHA:714096
Congenital stationary night blindness, Riggs type
Synonyms: CSNB Riggs type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital stationary night blindness, Riggs type | CSNB Riggs type |
| fr | Cécité nocturne stationnaire congénitale type Riggs | CNSC type Riggs |
| de | Kongenitale stationäre Nachtblindheit Typ Riggs | CSNB Typ Riggs |
| es | Ceguera nocturna estacionaria congénita, tipo Riggs | CSNB tipo Riggs |
| it | Cecità notturna stazionaria congenita, tipo Riggs | CSNB tipo Riggs |
| nl | Congenitale stationaire nachtblindheid, Riggs-type | CNSCB Riggs-type |
| pt | Congenital stationary night blindness, Riggs type | |
| pl | Wrodzona stacjonarna ślepota nocna, typu Riggsa | = en |
| cs | Congenital stationary night blindness, Riggs type | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 163500 | BTNT | validated | |
| OMIM | 610444 | BTNT | validated | |
| OMIM | 610445 | BTNT | validated | |
| OMIM | 613830 | BTNT | validated | |
| OMIM | 616389 | BTNT | validated | |
| ICD-10 | H53.6 | NTBT | attributed | 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:215Congenital stationary night blindness
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4393 | ENSG00000114349 | 139330 | 3p21.31 | G protein subunit alpha transducin 1 | 8673138[PMID]_22190596[PMID] |
| PDE6B | Disease-causing germline mutation(s) in | Assessed | HGNC:8786 | ENSG00000133256 | 180072 | 4p16.3 | phosphodiesterase 6B | 8075643[PMID] |
| RHO | Disease-causing germline mutation(s) in | Assessed | HGNC:10012 | ENSG00000163914 | 180380 | 3q22.1 | rhodopsin | 9888392[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
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/714096
- This record as JSON: /data/d/714096.json