MCID: XLN012
MIFTS: 28

X-Linked Congenital Stationary Night Blindness

Categories: Eye diseases, 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 25 20 43 6
X-Linked Csnb 25 20 43 70
Congenital Stationary Night Blindness, X-Linked 29 6
Congenital Stationary Night Blindness with Myopia 20
Night Blindness, Congenital Stationary, Type 2a 70
Night Blindness, Congenital Stationary, Type 1a 70
Myopia-Night Blindness 20
Hemeralopia-Myopia 20
Xlcsnb 43

Characteristics:

GeneReviews:

25
Penetrance Penetrance of x-linked csnb is probably 100%, but expressivity is variable [boycott et al 2000]; individuals with mild presentations may be missed if electroretinography is not performed.

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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UMLS 70 C1848172 C3495587 C3711543

Summaries for X-Linked Congenital Stationary Night Blindness

MedlinePlus Genetics : 43 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.The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The 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 and by the results of a test called an electroretinogram, which measures the function of the retina.

MalaCards based summary : X-Linked Congenital Stationary Night Blindness, also known as x-linked csnb, is related to night blindness, congenital stationary, type 1a and night blindness. An important gene associated with X-Linked Congenital Stationary Night Blindness is NYX (Nyctalopin). Affiliated tissues include retina and eye.

GARD : 20 X-linked congenital 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.

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 29

Anatomical Context for X-Linked Congenital Stationary Night Blindness

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

40
Retina, Eye

Publications for X-Linked Congenital Stationary Night Blindness

Articles related to X-Linked Congenital Stationary Night Blindness:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 61 6 25
11062471 2000
2
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 25 61 6
11062472 2000
3
CSNB1 in Chinese families associated with novel mutations in NYX. 6 61
16670814 2006
4
A common NYX mutation in Flemish patients with X linked CSNB. 25 61
18617546 2009
5
A novel CACNA1F gene mutation causes Aland Island eye disease. 61 25
17525176 2007
6
The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. 61 25
14973233 2004
7
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. 25 61
14609846 2003
8
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. 25 61
10900517 2000
9
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 25 61
9662399 1998
10
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 25 61
9662400 1998
11
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. 25 61
9529339 1998
12
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 25
28041643 2017
13
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. 25
25307992 2015
14
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 25
23714322 2013
15
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 25
24124559 2013
16
Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture. 25
20001510 2009
17
Mutations in NYX of individuals with high myopia, but without night blindness. 25
17392683 2007
18
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 25
16505158 2006
19
Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. 25
16476079 2006
20
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 25
15897456 2005
21
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. 25
15807819 2005
22
Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. 25
15634789 2005
23
ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report. 25
14661912 2003
24
Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. 25
12860808 2003
25
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. 25
11078833 2000
26
Clinical features of affected males with X linked ocular albinism. 25
8494858 1993
27
Congenital stationary night blindness with negative electroretinogram. A new classification. 25
3488053 1986
28
Electroretinography in cases of night blindness. 25
13180620 1954
29
[Analysis of the human electroretinogram]. 25
14957416 1952
30
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. 61
31826698 2019
31
Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. 61
30982101 2019
32
The Contribution of L-Type Cav1.3 Channels to Retinal Light Responses. 61
29259539 2017
33
[Preimplantation genetic diagnosis and monogenic inherited eye diseases]. 61
28224801 2016
34
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. 61
26234941 2015
35
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. 61
24466230 2014
36
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. 61
24051672 2013
37
Unique disease heritage of the Dutch-German Mennonite population. 61
18348259 2008
38
X-Linked Congenital Stationary Night Blindness 61
20301423 2008
39
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. 61
18246026 2008
40
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. 61
17881478 2007
41
Attenuation of oscillatory potentials in nob2 mice. 61
17479213 2007
42
The Ca(v)1.4 calcium channel: more than meets the eye. 61
19151588 2007
43
Localization of nyctalopin in the mammalian retina. 61
16553780 2006
44
The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. 61
16597347 2006
45
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? 61
16523234 2005
46
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. 61
16155113 2005
47
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. 61
15761389 2005
48
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. 61
14507859 2003
49
A potential spontaneous rat model of X-linked congenital stationary night blindness. 61
12906122 2003
50
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. 61
12714669 2003

Variations for X-Linked Congenital Stationary Night Blindness

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

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NYX NYX, 24-BP DEL Deletion Pathogenic 11420 GRCh37:
GRCh38:
2 NYX NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) SNV Pathogenic 11421 rs62637037 GRCh37: X:41333755-41333755
GRCh38: X:41474502-41474502
3 NYX NM_022567.2(NYX):c.105C>A (p.Cys35Ter) SNV Pathogenic 11422 rs62637021 GRCh37: X:41332811-41332811
GRCh38: X:41473558-41473558
4 NYX NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) Indel Pathogenic 11423 rs62637027 GRCh37: X:41333265-41333266
GRCh38: X:41474012-41474013
5 NYX NM_022567.2(NYX):c.281G>C (p.Arg94Pro) SNV Pathogenic 11424 rs104894910 GRCh37: X:41332987-41332987
GRCh38: X:41473734-41473734
6 NYX NM_022567.2(NYX):c.302T>C (p.Ile101Thr) SNV Pathogenic 11425 rs104894911 GRCh37: X:41333008-41333008
GRCh38: X:41473755-41473755
7 NYX NM_001378477.1(NYX):c.619_627dup (p.Arg207_Arg209dup) Duplication Likely pathogenic 931985 GRCh37: X:41333316-41333317
GRCh38: X:41474063-41474064
8 NYX NM_022567.2(NYX):c.582C>A (p.Ile194=) SNV Uncertain significance 596320 rs746383908 GRCh37: X:41333288-41333288
GRCh38: X:41474035-41474035
9 NYX NM_001378477.1(NYX):c.383C>T (p.Ala128Val) SNV Uncertain significance 914663 GRCh37: X:41333089-41333089
GRCh38: X:41473836-41473836
10 NYX NM_001378477.1(NYX):c.660C>G (p.Ala220=) SNV Uncertain significance 914664 GRCh37: X:41333366-41333366
GRCh38: X:41474113-41474113
11 NYX NM_001378477.1(NYX):c.737C>T (p.Pro246Leu) SNV Uncertain significance 914665 GRCh37: X:41333443-41333443
GRCh38: X:41474190-41474190
12 NYX NM_001378477.1(NYX):c.802C>G (p.Arg268Gly) SNV Uncertain significance 914666 GRCh37: X:41333508-41333508
GRCh38: X:41474255-41474255
13 NYX NM_022567.2(NYX):c.-328T>C SNV Uncertain significance 368264 rs777981530 GRCh37: X:41306815-41306815
GRCh38: X:41447562-41447562
14 NYX NM_022567.2(NYX):c.-86T>G SNV Uncertain significance 368267 rs755997910 GRCh37: X:41307057-41307057
GRCh38: X:41447804-41447804
15 NYX NM_001378477.1(NYX):c.*140G>A SNV Uncertain significance 913804 GRCh37: X:41334292-41334292
GRCh38: X:41475039-41475039
16 NYX NM_001378477.1(NYX):c.*383G>T SNV Uncertain significance 913806 GRCh37: X:41334535-41334535
GRCh38: X:41475282-41475282
17 NYX NM_001378477.1(NYX):c.-42+99T>C SNV Uncertain significance 914163 GRCh37: X:41306868-41306868
GRCh38: X:41447615-41447615
18 NYX NM_001378477.1(NYX):c.*744C>T SNV Uncertain significance 914209 GRCh37: X:41334896-41334896
GRCh38: X:41475643-41475643
19 NYX NM_001378477.1(NYX):c.163C>T (p.Arg55Trp) SNV Uncertain significance 914661 GRCh37: X:41332869-41332869
GRCh38: X:41473616-41473616
20 NYX NM_022567.2(NYX):c.*16del Deletion Uncertain significance 368273 rs762960396 GRCh37: X:41334163-41334163
GRCh38: X:41474910-41474910
21 NYX NM_022567.2(NYX):c.*734_*735dup Duplication Uncertain significance 368279 rs201620180 GRCh37: X:41334874-41334875
GRCh38: X:41475621-41475622
22 NYX NM_022567.2(NYX):c.*157C>G SNV Uncertain significance 368276 rs1057515884 GRCh37: X:41334309-41334309
GRCh38: X:41475056-41475056
23 NYX NM_022567.2(NYX):c.*72T>C SNV Uncertain significance 368274 rs1057515883 GRCh37: X:41334224-41334224
GRCh38: X:41474971-41474971
24 NYX NM_022567.2(NYX):c.*103G>A SNV Uncertain significance 368275 rs750048192 GRCh37: X:41334255-41334255
GRCh38: X:41475002-41475002
25 NYX NM_022567.2(NYX):c.1035G>A (p.Glu345=) SNV Likely benign 368269 rs143486101 GRCh37: X:41333741-41333741
GRCh38: X:41474488-41474488
26 NYX NM_022567.2(NYX):c.*414C>T SNV Likely benign 368277 rs58930096 GRCh37: X:41334566-41334566
GRCh38: X:41475313-41475313
27 NYX NM_022567.2(NYX):c.*736G>C SNV Likely benign 368280 rs141612904 GRCh37: X:41334888-41334888
GRCh38: X:41475635-41475635
28 NYX NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) SNV Likely benign 368270 rs189924262 GRCh37: X:41333904-41333904
GRCh38: X:41474651-41474651
29 NYX NM_022567.2(NYX):c.1227C>T (p.Thr409=) SNV Likely benign 368271 rs187149252 GRCh37: X:41333933-41333933
GRCh38: X:41474680-41474680
30 NYX NM_022567.2(NYX):c.843G>A (p.Glu281=) SNV Likely benign 368268 rs3810733 GRCh37: X:41333549-41333549
GRCh38: X:41474296-41474296
31 NYX NM_001378477.1(NYX):c.*152A>G SNV Likely benign 913805 GRCh37: X:41334304-41334304
GRCh38: X:41475051-41475051
32 NYX NM_022567.2(NYX):c.1394G>T (p.Cys465Phe) SNV Likely benign 756676 rs374968384 GRCh37: X:41334100-41334100
GRCh38: X:41474847-41474847
33 NYX NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) SNV Benign 195374 rs34169326 GRCh37: X:41333923-41333923
GRCh38: X:41474670-41474670
34 NYX NM_001378477.1(NYX):c.222G>A (p.Leu74=) SNV Benign 914662 GRCh37: X:41332928-41332928
GRCh38: X:41473675-41473675
35 NYX NM_022567.2(NYX):c.-314A>G SNV Benign 368265 rs3013121 GRCh37: X:41306829-41306829
GRCh38: X:41447576-41447576
36 NYX NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) SNV Benign 368272 rs776029387 GRCh37: X:41333959-41333959
GRCh38: X:41474706-41474706
37 NYX NM_022567.2(NYX):c.-279T>C SNV Benign 368266 rs3013122 GRCh37: X:41306864-41306864
GRCh38: X:41447611-41447611
38 NYX NM_022567.2(NYX):c.*509G>C SNV Benign 368278 rs3021319 GRCh37: X:41334661-41334661
GRCh38: X:41475408-41475408

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 NYX CACNA1F
2 visual perception GO:0007601 8.62 NYX CACNA1F

Sources for X-Linked Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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