NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
CSNBAD3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 610444
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007642) Congenital stationary night blindness 16 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dryja et al. (1996) summarized early reports of the most famous family with dominantly inherited night blindness, that descendant for some 11 generations from Jean Nougaret (1637-1719), a butcher from Provence who settled in Vendemian, a small village ...
Molecular genetics OMIM Dryja et al. (1996) reported that affected descendants of Jean Nougaret who suffer from congenital night blindness carry a missense mutation in the gene encoding the alpha subunit of rod transducin (GNAT1), the G protein that couples rhodopsin ...