raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:714079

Complete congenital stationary night blindness, Schubert-Bornschein type

Synonyms: Complete congenital stationary night blindness · cCSNB

Type
Clinical 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
LangNameSynonyms
enComplete congenital stationary night blindness, Schubert-Bornschein typeComplete congenital stationary night blindness · cCSNB
frCécité nocturne stationnaire congénitale complète type Schubert-BornscheinCNSC complète · Cécité nocturne stationnaire congénitale complète
deVollständige kongenitale stationäre Nachtblindheit Typ Schubert-BornscheinVollständige angeborene stationäre Nachtblindheit · cCSNB
esCeguera nocturna estacionaria congénita completa, tipo Schubert-BornscheinCSNB completa · cCSNB · Ceguera nocturna estacionaria congénita completa
itCecità notturna stazionaria congenita completa, tipo Schubert-BornscheinCecità notturna stazionaria congenita completa · cCSNB
nlVolledige congenitale stationaire nachtblindheid, Schubert-Bornschein-typecCSNB · Volledige congenitale stationaire nachtblindheid
ptComplete congenital stationary night blindness
plCałkowita wrodzona stacjonarna ślepota nocna= en
csComplete congenital stationary night blindness, Schubert-Bornschein type= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM257270BTNTvalidated
OMIM310500BTNTvalidated
OMIM610445BTNTvalidated
OMIM613216BTNTvalidated
OMIM614565BTNTvalidated
OMIM615058BTNTvalidated
OMIM617024BTNTvalidated

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

4 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GPR179Disease-causing germline mutation(s) inAssessedHGNC:31371ENSG0000027739961451517q12G protein-coupled receptor 17922325361[PMID]_22325362[PMID]
GRM6Disease-causing germline mutation(s) inAssessedHGNC:4598ENSG000001132626040965q35.3glutamate metabotropic receptor 617405131[PMID]
LRIT3Disease-causing germline mutation(s) inAssessedHGNC:24783ENSG000001834236150044q25leucine rich repeat, Ig-like and transmembrane domains 323246293[PMID]
TRPM1Disease-causing germline mutation(s) inAssessedHGNC:7146ENSG0000013416060357615q13.3transient receptor potential cation channel subfamily M member 119896109[PMID]_19896113[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