ORPHA:714090
Congenital stationary night blindness, Schubert-Bornschein type
Synonyms: CSNB Schubert-Bornstein type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal
- 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 stationary night blindness, Schubert-Bornschein type | CSNB Schubert-Bornstein type |
| fr | Cécité nocturne stationnaire congénitale type Schubert-Bornschein | CNSC type Schubert-Bornschein · Maladie de Schubert-Bornschein |
| de | Kongenitale stationäre Nachtblindheit Typ Schubert-Bornschein | CNSCB Typ Schubert-Bornstein |
| es | Ceguera nocturna estacionaria congénita, tipo Schubert-Bornschein | CSNB tipo Schubert-Bornstein |
| it | Cecità notturna stazionaria congenita, tipo Schubert-Bornschein | CSNB tipo Schubert-Bornstein · CNSCB tipo Schubert-Bornstein |
| nl | Congenitale stationaire nachtblindheid, Schubert-Bornschein-type | CSCB Schubert-Bornschein-type |
| pt | Congenital stationary night blindness, Schubert-Bornschein type | |
| pl | Wrodzona stacjonarna ślepota nocna, typu Schuberta-Bornscheina | = en |
| cs | Congenital stationary night blindness, Schubert-Bornschein type | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257270 | BTNT | validated | |
| OMIM | 300071 | BTNT | validated | |
| OMIM | 300427 | BTNT | validated | |
| OMIM | 310500 | BTNT | validated | |
| OMIM | 610445 | BTNT | validated | |
| OMIM | 610478 | BTNT | validated | |
| OMIM | 613216 | BTNT | validated | |
| OMIM | 614565 | BTNT | validated | |
| OMIM | 615058 | BTNT | validated | |
| OMIM | 617024 | 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
4
Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CABP4 | ORPHA:714070Incomplete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:1386 | ENSG00000175544 | 608965 | 11q13.2 | calcium binding protein 4 | 16960802[PMID] |
| CACNA1F | ORPHA:714070Incomplete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:1393 | ENSG00000102001 | 300110 | Xp11.23 | calcium voltage-gated channel subunit alpha1 F | 20301423[PMID] |
| CACNA2D4 | ORPHA:714070Incomplete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:20202 | ENSG00000151062 | 608171 | 12p13.33 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | 19578023[PMID] |
| GPR179 | ORPHA:714079Complete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:31371 | ENSG00000277399 | 614515 | 17q12 | G protein-coupled receptor 179 | 22325361[PMID]_22325362[PMID] |
| GRM6 | ORPHA:714079Complete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:4598 | ENSG00000113262 | 604096 | 5q35.3 | glutamate metabotropic receptor 6 | 17405131[PMID] |
| LRIT3 | ORPHA:714079Complete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:24783 | ENSG00000183423 | 615004 | 4q25 | leucine rich repeat, Ig-like and transmembrane domains 3 | 23246293[PMID] |
| TRPM1 | ORPHA:714079Complete congenital stationary night blindness, Schubert-Bornschein type | Disease-causing germline mutation(s) in | Assessed | HGNC:7146 | ENSG00000134160 | 603576 | 15q13.3 | transient receptor potential cation channel subfamily M member 1 | 19896109[PMID]_19896113[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
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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/714090
- This record as JSON: /data/d/714090.json