raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:714070

Incomplete congenital stationary night blindness, Schubert-Bornschein type

Synonyms: Incomplete congenital stationary night blindness · iCSNB

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive, X-linked recessive
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enIncomplete congenital stationary night blindness, Schubert-Bornschein typeIncomplete congenital stationary night blindness · iCSNB
frCécité nocturne stationnaire congénitale incomplète type Schubert-BornscheinCNSCi · Cécité nocturne stationnaire congénitale incomplète
deUnvollständige kongenitale stationäre Nachtblindheit Typ Schubert-BornscheinUnvollständige angeborene stationäre Nachtblindheit · iCSNB
esCeguera nocturna estacionaria congénita incompleta, tipo Schubert-BornscheinCeguera nocturna estacionaria congénita incompleta · CSNB incompleta · iCSNB
itCecità notturna stazionaria congenita incompleta, tipo Schubert-BornscheinCecità notturna stazionaria congenita incompleta · iCSNB
nlOnvolledige congenitale stationaire nachtblindheid, Schubert-Bornschein-typeiCSNB · Onvolledige congenitale stationaire nachtblindheid
ptIncomplete congenital stationary night blindness
plNiepełna wrodzona stacjonarna ślepota nocna= en
csIncomplete congenital stationary night blindness, Schubert-Bornschein type= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM300071BTNTvalidated
OMIM300427BTNTvalidated
OMIM610478BTNTvalidated

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):

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CABP4Disease-causing germline mutation(s) inAssessedHGNC:1386ENSG0000017554460896511q13.2calcium binding protein 416960802[PMID]
CACNA1FDisease-causing germline mutation(s) inAssessedHGNC:1393ENSG00000102001300110Xp11.23calcium voltage-gated channel subunit alpha1 F20301423[PMID]
CACNA2D4Disease-causing germline mutation(s) inAssessedHGNC:20202ENSG0000015106260817112p13.33calcium voltage-gated channel auxiliary subunit alpha2delta 419578023[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card