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 24 53 25
X-Linked Csnb 53 25 73
Congenital Stationary Night Blindness, X-Linked 29 6
Congenital Stationary Night Blindness with Myopia 53
Night Blindness, Congenital Stationary, Type 2a 73
Night Blindness, Congenital Stationary, Type 1a 73
Myopia-Night Blindness 53
Hemeralopia-Myopia 53
Xlcsnb 25

Classifications:



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Summaries for X-Linked Congenital Stationary Night Blindness

NIH Rare Diseases : 53 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.

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 : 25 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.

Wikipedia : 76 X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal... more...

GeneReviews:

Related Diseases for X-Linked Congenital Stationary Night Blindness

Diseases related to X-Linked Congenital Stationary Night Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 2a 31.3 CACNA1F NYX
2 congenital stationary night blindness 30.9 CACNA1F NLRP12 NYX
3 night blindness 30.2 CACNA1F NYX
4 myopia 28.6 CACNA1F NYX
5 night blindness, congenital stationary, type 1a 12.1
6 retinitis 10.3
7 retinitis pigmentosa 10.2
8 leber congenital amaurosis 4 10.2
9 hereditary night blindness 9.4 CACNA1F NYX
10 aland island eye disease 9.4 CACNA1F NYX
11 achromatopsia 3 9.3 CACNA1F NYX
12 retinal disease 9.1 CACNA1F NYX
13 night blindness, congenital stationary, type 1e 8.9 CACNA1F NLRP12 NYX

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 Not Applicable

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 29

Anatomical Context for X-Linked Congenital Stationary Night Blindness

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

41
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
A potential spontaneous rat model of X-linked congenital stationary night blindness. ( 12906122 )
2003
5
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. ( 12719097 )
2003
6
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. ( 14609846 )
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
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity. ( 11172618 )
2001
9
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
10
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
11
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
12
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
13
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. ( 10900517 )
2000
14
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. ( 9662400 )
1998
15
A naturally occurring mouse model of X-linked congenital stationary night blindness. ( 9804152 )
1998
16
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. ( 9760193 )
1998
17
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. ( 9662399 )
1998
18
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. ( 9529339 )
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
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. ( 8434607 )
1993
21
X-Linked Congenital Stationary Night Blindness ( 20301423 )
1993
22
Linkage analysis in X-linked congenital stationary night blindness. ( 1427834 )
1992
23
Affected females in X-linked congenital stationary night blindness. ( 1594221 )
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
Variable expressivity in X-linked congenital stationary night blindness. ( 2328435 )
1990
27
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
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

ClinVar genetic disease variations for X-Linked Congenital Stationary Night Blindness:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 NYX NM_022567.2(NYX): c.1035G> A (p.Glu345=) single nucleotide variant Uncertain significance rs143486101 GRCh37 Chromosome X, 41333741: 41333741
2 NYX NM_022567.2(NYX): c.1035G> A (p.Glu345=) single nucleotide variant Uncertain significance rs143486101 GRCh38 Chromosome X, 41474488: 41474488
3 NYX NM_022567.2(NYX): c.1253C> G (p.Ser418Cys) single nucleotide variant Likely benign rs776029387 GRCh37 Chromosome X, 41333959: 41333959
4 NYX NM_022567.2(NYX): c.1253C> G (p.Ser418Cys) single nucleotide variant Likely benign rs776029387 GRCh38 Chromosome X, 41474706: 41474706
5 NYX NM_022567.2(NYX): c.*72T> C single nucleotide variant Uncertain significance rs1057515883 GRCh38 Chromosome X, 41474971: 41474971
6 NYX NM_022567.2(NYX): c.*72T> C single nucleotide variant Uncertain significance rs1057515883 GRCh37 Chromosome X, 41334224: 41334224
7 NYX NM_022567.2(NYX): c.*157C> G single nucleotide variant Uncertain significance rs1057515884 GRCh37 Chromosome X, 41334309: 41334309
8 NYX NM_022567.2(NYX): c.*157C> G single nucleotide variant Uncertain significance rs1057515884 GRCh38 Chromosome X, 41475056: 41475056
9 NYX NM_022567.2(NYX): c.*414C> T single nucleotide variant Likely benign rs58930096 GRCh38 Chromosome X, 41475313: 41475313
10 NYX NM_022567.2(NYX): c.*414C> T single nucleotide variant Likely benign rs58930096 GRCh37 Chromosome X, 41334566: 41334566
11 NYX NM_022567.2(NYX): c.*736G> C single nucleotide variant Likely benign rs141612904 GRCh38 Chromosome X, 41475635: 41475635
12 NYX NM_022567.2(NYX): c.*736G> C single nucleotide variant Likely benign rs141612904 GRCh37 Chromosome X, 41334888: 41334888
13 NYX NM_022567.2(NYX): c.1198G> A (p.Gly400Ser) single nucleotide variant Likely benign rs189924262 GRCh37 Chromosome X, 41333904: 41333904
14 NYX NM_022567.2(NYX): c.1198G> A (p.Gly400Ser) single nucleotide variant Likely benign rs189924262 GRCh38 Chromosome X, 41474651: 41474651
15 NYX NM_022567.2(NYX): c.*734_*735dupAA duplication Uncertain significance rs1057515885 GRCh38 Chromosome X, 41475633: 41475634
16 NYX NM_022567.2(NYX): c.*734_*735dupAA duplication Uncertain significance rs1057515885 GRCh37 Chromosome X, 41334886: 41334887
17 NYX NM_022567.2(NYX): c.-314A> G single nucleotide variant Benign rs3013121 GRCh37 Chromosome X, 41306829: 41306829
18 NYX NM_022567.2(NYX): c.-314A> G single nucleotide variant Benign rs3013121 GRCh38 Chromosome X, 41447576: 41447576
19 NYX NM_022567.2(NYX): c.*16delG deletion Uncertain significance rs1057515882 GRCh37 Chromosome X, 41334168: 41334168
20 NYX NM_022567.2(NYX): c.*16delG deletion Uncertain significance rs1057515882 GRCh38 Chromosome X, 41474915: 41474915
21 NYX NM_022567.2(NYX): c.*103G> A single nucleotide variant Uncertain significance rs750048192 GRCh37 Chromosome X, 41334255: 41334255
22 NYX NM_022567.2(NYX): c.*103G> A single nucleotide variant Uncertain significance rs750048192 GRCh38 Chromosome X, 41475002: 41475002
23 NYX NM_022567.2(NYX): c.-328T> C single nucleotide variant Uncertain significance rs777981530 GRCh37 Chromosome X, 41306815: 41306815
24 NYX NM_022567.2(NYX): c.-328T> C single nucleotide variant Uncertain significance rs777981530 GRCh38 Chromosome X, 41447562: 41447562
25 NYX NM_022567.2(NYX): c.-279T> C single nucleotide variant Benign rs3013122 GRCh37 Chromosome X, 41306864: 41306864
26 NYX NM_022567.2(NYX): c.-279T> C single nucleotide variant Benign rs3013122 GRCh38 Chromosome X, 41447611: 41447611
27 NYX NM_022567.2(NYX): c.-86T> G single nucleotide variant Uncertain significance rs755997910 GRCh37 Chromosome X, 41307057: 41307057
28 NYX NM_022567.2(NYX): c.-86T> G single nucleotide variant Uncertain significance rs755997910 GRCh38 Chromosome X, 41447804: 41447804
29 NYX NM_022567.2(NYX): c.843G> A (p.Glu281=) single nucleotide variant Likely benign rs3810733 GRCh37 Chromosome X, 41333549: 41333549
30 NYX NM_022567.2(NYX): c.843G> A (p.Glu281=) single nucleotide variant Likely benign rs3810733 GRCh38 Chromosome X, 41474296: 41474296
31 NYX NM_022567.2(NYX): c.1227C> T (p.Thr409=) single nucleotide variant Likely benign rs187149252 GRCh37 Chromosome X, 41333933: 41333933
32 NYX NM_022567.2(NYX): c.1227C> T (p.Thr409=) single nucleotide variant Likely benign rs187149252 GRCh38 Chromosome X, 41474680: 41474680
33 NYX NM_022567.2(NYX): c.*509G> C single nucleotide variant Benign rs3021319 GRCh38 Chromosome X, 41475408: 41475408
34 NYX NM_022567.2(NYX): c.*509G> C single nucleotide variant Benign rs3021319 GRCh37 Chromosome X, 41334661: 41334661

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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