NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
CSNB, INCOMPLETE, X-LINKED
CSNB2A
CSNB2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 300071
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Heterogeneous
[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:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0001425) Heterogeneous 132 / 7739
5
(HPO:0001417) X-linked inheritance 173 / 7739
6
(OMIM) Loss of night vision 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM X-linked congenital stationary night blindness is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision. Bergen et al. (1995) stated that X-linked CSNB (CSNBX) is clinically heterogeneous with respect to the involvement of ...
Molecular genetics OMIM Conducting mutation analysis in 13 families with the incomplete form of X-linked congenital stationary night blindness type 2, Strom et al. (1998) identified 9 different mutations in the CACNA1F gene in 10 families, including 3 nonsense and 1 ...