MCID: XLN012
MIFTS: 26

X-Linked Congenital Stationary Night Blindness

Categories: Rare diseases

Aliases & Classifications for X-Linked Congenital Stationary Night Blindness

MalaCards integrated aliases for X-Linked Congenital Stationary Night Blindness:

Name: X-Linked Congenital Stationary Night Blindness 23 49 24
X-Linked Csnb 23 49 24 69
Congenital Stationary Night Blindness with Myopia 49
Night Blindness, Congenital Stationary, Type 2a 69
Night Blindness, Congenital Stationary, Type 1a 69
Congenital Stationary Night Blindness, X-Linked 28
Myopia-Night Blindness 49
Hemeralopia-Myopia 49
Xlcsnb 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance of csnb1a and csnb2a is probably 100%, but expressivity is variable [boycott et al 2000]; clinically mild cases may be missed if electroretinography is not performed...

Classifications:



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Summaries for X-Linked Congenital Stationary Night Blindness

NIH Rare Diseases : 49 X-linkedcongenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. Last updated: 10/14/2011

MalaCards based summary : X-Linked Congenital Stationary Night Blindness, also known as x-linked csnb, is related to night blindness, congenital stationary, type 2a and congenital stationary night blindness. An important gene associated with X-Linked Congenital Stationary Night Blindness is NYX (Nyctalopin). Affiliated tissues include retina and eye.

Genetics Home Reference : 24 X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.

GeneReviews: NBK1245

Related Diseases for X-Linked Congenital Stationary Night Blindness

Graphical network of the top 20 diseases related to X-Linked Congenital Stationary Night Blindness:



Diseases related to X-Linked Congenital Stationary Night Blindness

Symptoms & Phenotypes for X-Linked Congenital Stationary Night Blindness

Drugs & Therapeutics for X-Linked Congenital Stationary Night Blindness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534

Search NIH Clinical Center for X-Linked Congenital Stationary Night Blindness

Genetic Tests for X-Linked Congenital Stationary Night Blindness

Genetic tests related to X-Linked Congenital Stationary Night Blindness:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, X-Linked 28

Anatomical Context for X-Linked Congenital Stationary Night Blindness

MalaCards organs/tissues related to X-Linked Congenital Stationary Night Blindness:

38
Retina, Eye

Publications for X-Linked Congenital Stationary Night Blindness

Articles related to X-Linked Congenital Stationary Night Blindness:

(show all 31)
# Title Authors Year
1
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. ( 26234941 )
2015
2
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. ( 17881478 )
2007
3
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. ( 15761389 )
2005
4
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. ( 14609846 )
2003
5
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. ( 12719097 )
2003
6
A potential spontaneous rat model of X-linked congenital stationary night blindness. ( 12906122 )
2003
7
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. ( 12397430 )
2002
8
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. ( 11281458 )
2001
9
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity. ( 11172618 )
2001
10
Development of a 1.4-Mb BAC/PAC contig and physical map within the critical region for complete X-linked congenital stationary night blindness in Xp11.4. ( 10950933 )
2000
11
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. ( 11062472 )
2000
12
Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. ( 10873387 )
2000
13
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. ( 10900517 )
2000
14
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. ( 9760193 )
1998
15
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. ( 9529339 )
1998
16
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. ( 9662400 )
1998
17
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. ( 9662399 )
1998
18
A naturally occurring mouse model of X-linked congenital stationary night blindness. ( 9804152 )
1998
19
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. ( 7633454 )
1995
20
X-Linked Congenital Stationary Night Blindness ( 20301423 )
1993
21
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. ( 8434607 )
1993
22
Affected females in X-linked congenital stationary night blindness. ( 1594221 )
1992
23
Linkage analysis in X-linked congenital stationary night blindness. ( 1427834 )
1992
24
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. ( 1740347 )
1992
25
X-linked congenital stationary night blindness: review and report of a family with hyperopia. ( 2043056 )
1991
26
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. ( 1969841 )
1990
27
Variable expressivity in X-linked congenital stationary night blindness. ( 2328435 )
1990
28
X-linked congenital stationary night blindness. ( 2785789 )
1989
29
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. ( 2574143 )
1989
30
X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. ( 3257795 )
1988
31
X-linked congenital stationary night blindness. Review and report of a family with hyperopia. ( 3052384 )
1988

Variations for X-Linked Congenital Stationary Night Blindness

Expression for X-Linked Congenital Stationary Night Blindness

Search GEO for disease gene expression data for X-Linked Congenital Stationary Night Blindness.

Pathways for X-Linked Congenital Stationary Night Blindness

GO Terms for X-Linked Congenital Stationary Night Blindness

Biological processes related to X-Linked Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 CACNA1F NYX
2 visual perception GO:0007601 8.62 CACNA1F NYX

Sources for X-Linked Congenital Stationary Night Blindness

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