MCID: CNG010
MIFTS: 54

Congenital Stationary Night Blindness

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Congenital Stationary Night Blindness

MalaCards integrated aliases for Congenital Stationary Night Blindness:

Name: Congenital Stationary Night Blindness 11 58 28 5 14 75
Night Blindness, Congenital Stationary 75 53 71
Congenital Essential Nyctalopia 11 58
Oguchi Disease 43 71
Blindness, Night, Stationary, Congenital 38

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0050534
ICD9CM 34 368.61
MeSH 43 C537743
SNOMED-CT 68 193687000
MESH via Orphanet 44 C536122
ICD10 via Orphanet 32 H53.6
UMLS via Orphanet 72 C0339535
Orphanet 58 ORPHA215
UMLS 71 C0339535 C1306122

Summaries for Congenital Stationary Night Blindness

Orphanet: 58 Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

MalaCards based summary: Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, is related to night blindness, congenital stationary, type 1a and x-linked congenital stationary night blindness. An important gene associated with Congenital Stationary Night Blindness is NYX (Nyctalopin), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Beta carotene and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are myopia and reduced visual acuity

Disease Ontology: 11 A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.

Wikipedia: 75 Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with... more...

Related Diseases for Congenital Stationary Night Blindness

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1a 34.0 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
2 x-linked congenital stationary night blindness 33.9 NYX CACNA1F
3 night blindness, congenital stationary, type 1b 33.9 TRPM1 NYX LRIT3 GRM6 GPR179 CABP4
4 night blindness, congenital stationary, type 1e 33.8 NYX GPR179 CACNA1F
5 night blindness, congenital stationary, type 1c 33.7 TRPM1 NYX GPR179 CACNA1F CABP4
6 night blindness, congenital stationary, autosomal dominant 1 33.7 RHO GNAT1 CACNA1F
7 night blindness, congenital stationary, type 2a 33.7 NYX CACNA1F
8 oguchi disease 33.6 SAG RHO RDH5 NYX GRK1 CACNA1F
9 oguchi disease 2 33.5 SAG RHO GRK1 CABP4
10 oguchi disease 1 33.5 SAG RHO GRK1 CABP4
11 autosomal dominant congenital stationary night blindness 33.4 PDE6B GNAT1
12 night blindness 32.9 USH2A TRPM1 SLC24A1 SAG RPGR RHO
13 myopia 32.5 TRPM1 SLC24A1 RPGR RHO RDH5 RBP3
14 retinal disease 32.3 USH2A RPGR RHO PDE6B CACNA1F ABCA4
15 retinitis pigmentosa 32.0 USH2A TRPM1 SLC24A1 SAG RPGR RHO
16 refractive error 31.9 RPGR RHO RDH5 NYX GRM6 GPR179
17 retinitis 31.9 USH2A RPGR RHO PDE6B ABCA4
18 aland island eye disease 31.8 NYX CACNA1F CABP4
19 eye disease 31.8 USH2A TRPM1 SAG RPGR RHO RDH5
20 retinal degeneration 31.7 USH2A SAG RPGR RHO RDH5 RBP3
21 fundus dystrophy 31.7 USH2A TRPM1 SLC24A1 SAG RPGR RHO
22 peripheral retinal degeneration 31.7 RPGR RHO ABCA4
23 cone dystrophy 31.6 USH2A SAG RPGR RHO RDH5 PDE6B
24 progressive cone dystrophy 31.6 RPGR RDH5 PDE6B CACNA2D4 CACNA1F ABCA4
25 cone-rod dystrophy 2 31.5 USH2A TRPM1 SLC24A1 SAG RPGR RHO
26 color blindness 31.4 USH2A RPGR RHO PDE6B GRK1 CACNA1F
27 retinoschisis 1, x-linked, juvenile 31.3 USH2A TRPM1 RPGR RHO PDE6B NYX
28 cone-rod dystrophy, x-linked, 3 31.3 RPGR NYX GRM6 CACNA2D4 CACNA1F CABP4
29 fundus albipunctatus 31.3 USH2A RPGR RHO RDH5 RBP3 PDE6B
30 retinitis pigmentosa 3 31.2 RPGR GRK1 ABCA4
31 achromatopsia 31.1 USH2A RPGR RHO PDE6B NYX GRK1
32 leber plus disease 31.1 USH2A TRPM1 SLC24A1 SAG RPGR RHO
33 leber congenital amaurosis 2 31.1 RPGR RHO
34 blue cone monochromacy 31.1 RPGR NYX CACNA1F ABCA4
35 cone-rod dystrophy 3 31.1 RPGR CACNA1F CABP4 ABCA4
36 late-onset retinal degeneration 31.0 USH2A RPGR RHO PDE6B CACNA2D4 ABCA4
37 stargardt disease 31.0 USH2A RPGR RHO RDH5 RBP3 PDE6B
38 macular degeneration, age-related, 1 31.0 USH2A RPGR RHO RDH5 RBP3 PDE6B
39 hereditary retinal dystrophy 31.0 USH2A RHO ABCA4
40 retinitis pigmentosa 2 31.0 RPGR RHO GRK1
41 scotoma 31.0 USH2A RPGR RHO ABCA4
42 retinitis pigmentosa 47 30.7 SAG GNAT1
43 night blindness, congenital stationary, type 1d 12.0
44 night blindness, congenital stationary, type 1h 12.0
45 night blindness, congenital stationary, type 1f 11.9
46 night blindness, congenital stationary, autosomal dominant 2 11.9
47 night blindness, congenital stationary, autosomal dominant 3 11.9
48 autosomal recessive congenital stationary night blindness 11.9
49 night blindness, congenital stationary, type 1g 11.9
50 cone-rod synaptic disorder, congenital nonprogressive 11.4

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



Diseases related to Congenital Stationary Night Blindness

Symptoms & Phenotypes for Congenital Stationary Night Blindness

Human phenotypes related to Congenital Stationary Night Blindness:

58 30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000545
2 reduced visual acuity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007663
3 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
4 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
5 congenital stationary night blindness with normal fundus 58 30 Frequent (33%) Frequent (79-30%)
HP:0030638
6 congenital stationary night blindness with abnormal fundus 58 30 Frequent (33%) Frequent (79-30%)
HP:0030639
7 hypermetropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000540
8 electronegative electroretinogram 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007984
9 reduced amplitude of dark-adapted bright flash electroretinogram a-wave 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030483
10 compensatory head posture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031705
11 abnormality of retinal pigmentation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007703
12 color vision defect 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000551
13 retinal thinning 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030329
14 nyctalopia 58 Very frequent (99-80%)
15 abnormal dark-adapted electroretinogram 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
2 no effect GR00402-S-2 10.18 ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.8 PDE6B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.8 GNAT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.8 GNAT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.8 CACNA2D4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.8 CACNA2D4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.8 GNAT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.8 CACNA2D4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.8 CACNA2D4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.8 GNAT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.8 PDE6B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.8 GNAT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.8 GNAT1 PDE6B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.8 CACNA2D4

MGI Mouse Phenotypes related to Congenital Stationary Night Blindness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.83 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GRK1
2 vision/eye MP:0005391 9.62 ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
3 pigmentation MP:0001186 9.55 ABCA4 GNAT1 PDE6B RHO RPGR

Drugs & Therapeutics for Congenital Stationary Night Blindness

Drugs for Congenital Stationary Night Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Beta carotene Approved, Nutraceutical 6811-73-0, 7235-40-7 10256668 5280489
2 Carotenoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
2 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
3 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940

Search NIH Clinical Center for Congenital Stationary Night Blindness

Cochrane evidence based reviews: oguchi disease

Genetic Tests for Congenital Stationary Night Blindness

Genetic tests related to Congenital Stationary Night Blindness:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness 28

Anatomical Context for Congenital Stationary Night Blindness

Organs/tissues related to Congenital Stationary Night Blindness:

MalaCards : Eye, Retina, Skeletal Muscle

Publications for Congenital Stationary Night Blindness

Articles related to Congenital Stationary Night Blindness:

(show top 50) (show all 532)
# Title Authors PMID Year
1
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. 62 5
22008250 2012
2
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 62 5
22325362 2012
3
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 62 5
22325361 2012
4
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. 62 5
19878917 2009
5
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 62 5
16249515 2005
6
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 62 5
11281458 2001
7
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 62 5
9662400 1998
8
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 62 5
9662399 1998
9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
10
The ABCA4 gene in autosomal recessive cone-rod dystrophies. 5
12515255 2002
11
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. 53 62
20238058 2010
12
Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. 53 62
19666700 2009
13
Sequence variations of GRM6 in patients with high myopia. 53 62
19862333 2009
14
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. 53 62
18246026 2008
15
Attenuation of oscillatory potentials in nob2 mice. 53 62
17479213 2007
16
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. 53 62
17405131 2007
17
A novel CACNA1F gene mutation causes Aland Island eye disease. 53 62
17525176 2007
18
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. 53 62
17044014 2007
19
Mutations in NYX of individuals with high myopia, but without night blindness. 53 62
17392683 2007
20
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 53 62
16505158 2006
21
Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. 53 62
16622103 2006
22
Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. 53 62
16261423 2005
23
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. 53 62
15877050 2005
24
Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. 53 62
15905181 2005
25
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 53 62
15897456 2005
26
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. 53 62
15807819 2005
27
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. 53 62
15761389 2005
28
Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. 53 62
15331616 2005
29
The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution. 53 62
14973233 2004
30
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. 53 62
14507859 2003
31
Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. 53 62
12860808 2003
32
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. 53 62
12719097 2003
33
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. 53 62
12714669 2003
34
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. 53 62
12397430 2002
35
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 53 62
12187427 2002
36
Calcium channels and channelopathies of the central nervous system. 53 62
11890456 2002
37
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. 53 62
11581222 2001
38
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders. 53 62
11408949 2001
39
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. 53 62
11381068 2001
40
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 53 62
11062471 2000
41
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 53 62
11062472 2000
42
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. 53 62
10937591 2000
43
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. 53 62
10900517 2000
44
Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. 53 62
10873387 2000
45
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 53 62
10617778 1999
46
Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. 53 62
10097103 1999
47
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. 53 62
9808841 1998
48
[Recent progress in clinical aspects of receptor research]. 53 62
9702034 1998
49
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 53 62
9501174 1998
50
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. 53 62
8004102 1994

Variations for Congenital Stationary Night Blindness

ClinVar genetic disease variations for Congenital Stationary Night Blindness:

5 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1F NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs) DEL Pathogenic
438118 rs1557110192 GRCh37: X:49083490-49083490
GRCh38: X:49227028-49227028
2 GRM6 NM_000843.4(GRM6):c.577del (p.Val193fs) DEL Pathogenic
437970 rs781463257 GRCh37: 5:178419012-178419012
GRCh38: 5:178992011-178992011
3 CACNA1F NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) SNV Pathogenic
11615 rs122456134 GRCh37: X:49074970-49074970
GRCh38: X:49218511-49218511
4 CACNA1F NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) SNV Pathogenic
812246 rs1602630650 GRCh37: X:49069148-49069148
GRCh38: X:49212688-49212688
5 TRPM1 NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) SNV Pathogenic
593857 rs1485132228 GRCh37: 15:31327754-31327754
GRCh38: 15:31035551-31035551
6 CACNA1F NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) SNV Pathogenic
11617 rs122456135 GRCh37: X:49075803-49075803
GRCh38: X:49219344-49219344
7 GPR179 NM_001004334.4(GPR179):c.984del (p.Ser329fs) DEL Pathogenic
31204 rs770066665 GRCh37: 17:36493523-36493523
GRCh38: 17:38337640-38337640
8 TRPM1 NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter) SNV Pathogenic
812434 rs765645888 GRCh37: 15:31327816-31327816
GRCh38: 15:31035613-31035613
9 TRPM1 NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter) SNV Pathogenic
812435 rs1596029830 GRCh37: 15:31355340-31355340
GRCh38: 15:31063137-31063137
10 CACNA1F NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) SNV Pathogenic
812245 rs782740998 GRCh37: X:49068407-49068407
GRCh38: X:49211947-49211947
11 CACNA1F NM_001256789.3(CACNA1F):c.2086-2A>G SNV Pathogenic
624415 rs1358925739 GRCh37: X:49079299-49079299
GRCh38: X:49222840-49222840
12 CACNA1F NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) SNV Pathogenic
810596 rs1602621312 GRCh37: X:49063072-49063072
GRCh38: X:49206611-49206611
13 CACNA1F NM_001256789.3(CACNA1F):c.1118+1G>C SNV Pathogenic
813026 rs2065841382 GRCh37: X:49084497-49084497
GRCh38: X:49228035-49228035
14 USH2A NM_206933.4(USH2A):c.2299del (p.Glu767fs) DEL Pathogenic
2351 rs80338903 GRCh37: 1:216420437-216420437
GRCh38: 1:216247095-216247095
15 NYX NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs) DUP Pathogenic
812362 rs1602181253 GRCh37: X:41333966-41333967
GRCh38: X:41474713-41474714
16 NYX NM_001378477.3(NYX):c.1054_1055del (p.Val352fs) MICROSAT Pathogenic
812361 rs1602181043 GRCh37: X:41333773-41333774
GRCh38: X:41474520-41474521
17 CACNA1F NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) DUP Pathogenic
812252 rs1602658505 GRCh37: X:49088221-49088222
GRCh38: X:49231759-49231760
18 CACNA1F NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) SNV Pathogenic
812249 rs1602644716 GRCh37: X:49079044-49079044
GRCh38: X:49222585-49222585
19 CACNA1F NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) SNV Pathogenic
812248 rs1602641426 GRCh37: X:49076166-49076166
GRCh38: X:49219707-49219707
20 CACNA1F NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs) DEL Pathogenic
812247 rs1602639607 GRCh37: X:49075156-49075156
GRCh38: X:49218697-49218697
21 ABCA4 NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter) SNV Pathogenic
438093 rs61751398 GRCh37: 1:94508386-94508386
GRCh38: 1:94042830-94042830
22 NYX NM_001378477.3(NYX):c.782T>C (p.Leu261Pro) SNV Pathogenic
812359 rs1602180791 GRCh37: X:41333503-41333503
GRCh38: X:41474250-41474250
23 NYX NM_001378477.3(NYX):c.481G>C (p.Ala161Pro) SNV Likely Pathogenic
812358 rs1602180478 GRCh37: X:41333202-41333202
GRCh38: X:41473949-41473949
24 TRPM1 NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs) DUP Likely Pathogenic
438219 rs770380556 GRCh37: 15:31320613-31320614
GRCh38: 15:31028410-31028411
25 TRPM1 NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg) SNV Likely Pathogenic
438222 rs1555424166 GRCh37: 15:31355454-31355454
GRCh38: 15:31063251-31063251
26 CACNA1F NM_001256789.3(CACNA1F):c.2733+1G>A SNV Likely Pathogenic
438122 rs1557108147 GRCh37: X:49075340-49075340
GRCh38: X:49218881-49218881
27 TRPM1 NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu) SNV Likely Pathogenic
438220 rs1555424849 GRCh37: 15:31360195-31360195
GRCh38: 15:31067992-31067992
28 CACNA1F NM_001256789.3(CACNA1F):c.4261-9G>A SNV Likely Pathogenic
812244 rs1602628429 GRCh37: X:49067561-49067561
GRCh38: X:49211101-49211101
29 CACNA1F NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) SNV Likely Pathogenic
812243 rs1602627593 GRCh37: X:49067081-49067081
GRCh38: X:49210621-49210621
30 PDE6B NM_000283.4(PDE6B):c.293G>A (p.Arg98His) SNV Likely Pathogenic
636061 rs776050413 GRCh37: 4:619708-619708
GRCh38: 4:625919-625919
31 NYX NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly) SNV Likely Pathogenic
812360 rs1602181006 GRCh37: X:41333724-41333724
GRCh38: X:41474471-41474471
32 CACNA1F NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) MICROSAT Likely Pathogenic
438129 rs1557110499 GRCh37: X:49084773-49084775
GRCh38: X:49228311-49228313
33 CACNA1F NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) SNV Likely Pathogenic
438128 rs1557110988 GRCh37: X:49086715-49086715
GRCh38: X:49230253-49230253
34 GRM6 NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del) DEL Likely Pathogenic
437969 rs1237461749 GRCh37: 5:178421814-178421828
GRCh38: 5:178994813-178994827
35 TRPM1 NM_001252024.2(TRPM1):c.618+3_618+6del DEL Likely Pathogenic
438221 rs781610444 GRCh37: 15:31359260-31359263
GRCh38: 15:31067057-31067060
36 GRM6 NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) SNV Likely Pathogenic
5844 rs62638197 GRCh37: 5:178421809-178421809
GRCh38: 5:178994808-178994808
37 RBP3 NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del) MICROSAT Likely Pathogenic
437963 rs782604129 GRCh37: 10:48390044-48390046
GRCh38: 10:47349309-47349311
38 NYX NM_001378477.3(NYX):c.335T>A (p.Leu112Gln) SNV Likely Pathogenic
812357 rs1602180352 GRCh37: X:41333056-41333056
GRCh38: X:41473803-41473803
39 TRPM1 NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) SNV Likely Pathogenic
225502 rs768701595 GRCh37: 15:31352747-31352747
GRCh38: 15:31060544-31060544
40 CACNA1F NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) SNV Likely Pathogenic
438123 rs1557107417 GRCh37: X:49072898-49072898
GRCh38: X:49216438-49216438
41 CACNA1F NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs) DEL Likely Pathogenic
438121 rs1557109796 GRCh37: X:49082513-49082517
GRCh38: X:49226051-49226055
42 GPR179 NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs) DUP Likely Pathogenic
505393 rs1200683561 GRCh37: 17:36486744-36486745
GRCh38: 17:38330861-38330862
43 GPR179 NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer) INDEL Likely Pathogenic
286815 rs886043488 GRCh37: 17:36495400-36495404
GRCh38: 17:38339517-38339521
44 GRK1 NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) SNV Likely Pathogenic
636033 rs1594580431 GRCh37: 13:114436046-114436046
GRCh38: 13:113733073-113733073
45 TRPM1 NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr) SNV Likely Pathogenic
438217 rs1555418784 GRCh37: 15:31320673-31320673
GRCh38: 15:31028470-31028470
46 CACNA1F NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter) INSERT Likely Pathogenic
438119 rs1557110046 GRCh37: X:49083135-49083136
GRCh38: X:49226673-49226674
47 RPGR NM_001034853.2(RPGR):c.633del (p.Tyr212fs) DEL Likely Pathogenic
438146 rs1555966753 GRCh37: X:38170013-38170013
GRCh38: X:38310760-38310760
48 CACNA1F NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs) DEL Likely Pathogenic
438124 rs1557107192 GRCh37: X:49071931-49071932
GRCh38: X:49215471-49215472
49 CACNA1F NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu) SNV Likely Pathogenic
438127 rs1557106008 GRCh37: X:49067096-49067096
GRCh38: X:49210636-49210636
50 NYX NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1]) MICROSAT Likely Pathogenic
438057 rs1555967281 GRCh37: X:41333696-41333701
GRCh38: X:41474443-41474448

Expression for Congenital Stationary Night Blindness

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

Pathways for Congenital Stationary Night Blindness



Pathways directly related to Congenital Stationary Night Blindness:

# Pathway Source
1 Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) Reactome 66

Pathways related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 ABCA4 GNAT1 GNB3 GRK1 PDE6B RBP3
2
Show member pathways
12.96 TRPM1 GRM6 GNB3 GNAT1 CACNA2D4 CACNA1F
3
Show member pathways
12.32 GNB3 GNAT1 CACNA2D4 CACNA1F
4
Show member pathways
12.15 SLC24A1 SAG RHO RDH5 RBP3 PDE6B
5
Show member pathways
11.4 RHO RDH5 RBP3 ABCA4
6 11.25 SLC24A1 SAG RHO RDH5 RBP3 PDE6B
7 10.86 RDH5 GRK1 GNB3
8 10.62 TRPM1 GRM6

GO Terms for Congenital Stationary Night Blindness

Cellular components related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.51 USH2A TRPM1 SLC24A1 RHO RDH5 PDE6B
2 membrane GO:0016021 10.51 USH2A TRPM1 SLC24A1 RHO RDH5 PDE6B
3 photoreceptor inner segment GO:0001917 9.92 USH2A SAG RHO GNAT1
4 photoreceptor disc membrane GO:0097381 9.85 RHO PDE6B GRK1 GNAT1 ABCA4
5 photoreceptor outer segment membrane GO:0042622 9.73 GNAT1 PDE6B RHO
6 cell projection GO:0042995 9.73 USH2A TRPM1 SAG RPGR RHO PDE6B
7 photoreceptor outer segment GO:0001750 9.47 SAG RPGR RHO PDE6B GRK1 GNAT1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.17 ABCA4 CABP4 CACNA1F GNAT1 GPR179 GRK1
2 calcium ion transmembrane transport GO:0070588 10.05 TRPM1 SLC24A1 CACNA2D4 CACNA1F
3 retina development in camera-type eye GO:0060041 10.01 RHO PDE6B GRM6 GNAT1
4 photoreceptor cell maintenance GO:0045494 10 USH2A RHO ABCA4
5 retinoid metabolic process GO:0001523 9.95 RDH5 RBP3 ABCA4
6 calcium ion import across plasma membrane GO:0098703 9.93 CACNA1F SLC24A1 TRPM1
7 detection of light stimulus involved in visual perception GO:0050908 9.92 GRM6 GNAT1 CACNA2D4 CACNA1F
8 phototransduction GO:0007602 9.89 RHO GNAT1 CABP4
9 phototransduction, visible light GO:0007603 9.86 ABCA4 GNAT1 PDE6B RHO
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.85 GRK1 GNAT1
11 response to light intensity GO:0009642 9.84 SLC24A1 GNAT1
12 rhodopsin mediated signaling pathway GO:0016056 9.76 SAG RHO GRK1 GNAT1
13 sensory perception of light stimulus GO:0050953 9.67 USH2A RHO GRM6
14 response to stimulus GO:0050896 9.6 ABCA4 CACNA1F GNAT1 GRK1 GRM6 LRIT3
15 detection of light stimulus GO:0009583 9.43 RHO PDE6B

Molecular functions related to Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid binding GO:0005501 9.46 RBP3 ABCA4
2 11-cis retinal binding GO:0005502 9.26 RHO ABCA4
3 calcium channel activity GO:0005262 9.1 TRPM1 SLC24A1 CACNA2D4 CACNA1F

Sources for Congenital Stationary Night Blindness

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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