MCID: CNG010
MIFTS: 54

Congenital Stationary Night Blindness

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Stationary Night Blindness

MalaCards integrated aliases for Congenital Stationary Night Blindness:

Name: Congenital Stationary Night Blindness 12 58 36 29 6 15
Night Blindness, Congenital Stationary 74 54 71
Congenital Essential Nyctalopia 12 58
Oguchi Disease 43 71
Blindness, Night, Stationary, Congenital 39

Characteristics:

Orphanet epidemiological data:

58
congenital stationary night blindness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050534
KEGG 36 H00787
ICD9CM 34 368.61
MeSH 43 C537743
SNOMED-CT 67 193687000
ICD10 32 H53.63
MESH via Orphanet 44 C536122
ICD10 via Orphanet 33 H53.6
UMLS via Orphanet 72 C0339535
Orphanet 58 ORPHA215
UMLS 71 C0339535 C1306122

Summaries for Congenital Stationary Night Blindness

KEGG : 36 Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal recessive genes (CABP4, GRK1, GRM6, SAG, TRPM1), and autosomal dominant genes (GNAT1, PDE6B, RHO). Two types of CSNB can be distinguished by use of the standard flash electroretinogram (ERG). CSNB type 1 (CSNB1) is characterized by the complete absence of rod pathway function, whereas CSNB type 2 (CSNB2) is caused by impaired rod and cone pathway function. Oguchi disease is a form of CSNB. Patients with the Oguchi disease have a unique yellowish-gold fundus that regains its normal color after prolonged dark adaptation. That is called the Mizuo-Nakamura phenomenon.

MalaCards based summary : Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, is related to x-linked congenital stationary night blindness and autosomal recessive congenital stationary night blindness. An important gene associated with Congenital Stationary Night Blindness is NYX (Nyctalopin), and among its related pathways/superpathways are Phototransduction and MAPK signaling pathway. The drugs Beta carotene and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are reduced visual acuity and nyctalopia

Disease Ontology : 12 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 : 74 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 127)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 35.9 NYX NLRP12 CACNA1F
2 autosomal recessive congenital stationary night blindness 35.7 SLC24A1 GRM6 GNB3 GNAT1
3 autosomal dominant congenital stationary night blindness 35.6 RHO PDE6B GNAT1
4 night blindness, congenital stationary, type 1a 35.3 RHO RDH5 NYX LRIT3 GRM6 GPR179
5 night blindness, congenital stationary, type 1b 35.3 TRPM1 NYX LRIT3 GRM6 GPR179
6 night blindness, congenital stationary, type 1e 35.2 NYX NLRP12 GPR179 CACNA1F
7 night blindness, congenital stationary, type 1c 35.1 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
8 night blindness, congenital stationary, autosomal dominant 1 35.1 RHO GNAT1 CACNA1F
9 night blindness, congenital stationary, type 2a 35.0 NYX CACNA1F
10 oguchi disease 34.9 SAG RHO RDH5 PDE6B NYX GRM6
11 oguchi disease 1 34.7 SAG GRK1
12 oguchi disease 2 34.4 GRK1 CABP4
13 night blindness 33.2 USH2A TRPM1 SLC24A1 SAG RPE65 RHO
14 yemenite deaf-blind hypopigmentation syndrome 33.1 USH2A RPE65 RHO ABCA4
15 myopia 32.7 TRPM1 SLC24A1 RHO RDH5 PDE6B NYX
16 pathologic nystagmus 32.6 USH2A RPE65 RHO NYX CACNA1F CABP4
17 retinitis 32.3 USH2A RPE65 RHO PDE6B ABCA4
18 retinitis pigmentosa 32.3 USH2A TRPM1 SLC24A1 SAG RPE65 RHO
19 neuroretinitis 32.1 TRPM1 SAG
20 retinal disease 32.0 USH2A SAG RPE65 RHO RDH5 PDE6B
21 retinal degeneration 32.0 USH2A SAG RPE65 RHO RDH5 PDE6B
22 aland island eye disease 32.0 RPE65 NYX CACNA1F
23 eye disease 32.0 USH2A SAG RPE65 RHO PDE6B CACNA1F
24 cone dystrophy 31.8 USH2A RPE65 RHO RDH5 PDE6B CACNA2D4
25 inherited retinal disorder 31.8 USH2A TRPM1 SLC24A1 SAG RPE65 RHO
26 fundus dystrophy 31.7 USH2A TRPM1 SLC24A1 SAG RPE65 RHO
27 retinoschisis 1, x-linked, juvenile 31.7 RPE65 RHO NYX GRM6 GRK1 CACNA1F
28 cone-rod dystrophy 2 31.6 USH2A SAG RPE65 RHO PDE6B GRK1
29 leber congenital amaurosis 2 31.5 RPE65 RHO RDH5
30 fundus albipunctatus 31.4 SLC24A1 SAG RPE65 RHO RDH5 PDE6B
31 stargardt disease 31.4 USH2A RPE65 RHO RDH5 PDE6B GRK1
32 cone-rod dystrophy 3 31.4 CACNA1F CABP4 ABCA4
33 macular degeneration, age-related, 1 31.3 USH2A SAG RPE65 RHO RDH5 PDE6B
34 scotoma 31.2 RPE65 RHO ABCA4
35 night blindness, congenital stationary, type 1d 12.6
36 night blindness, congenital stationary, type 1f 12.6
37 night blindness, congenital stationary, autosomal dominant 2 12.6
38 night blindness, congenital stationary, autosomal dominant 3 12.6
39 night blindness, congenital stationary, type 1h 12.6
40 night blindness, congenital stationary, type 1g 12.5
41 cone-rod synaptic disorder, congenital nonprogressive 12.2
42 night blindness, congenital stationary, type1i 11.6
43 nystagmus 1, congenital, x-linked 11.4
44 joint laxity, short stature, and myopia 11.0
45 abnormal threshold of rods 10.8 TRPM1 SAG PDE6B GRM6 GRK1 GPR179
46 achromatopsia 10.8 USH2A RPE65 RHO PDE6B NYX GRK1
47 melanoma-associated retinopathy 10.8 TRPM1 SAG RHO
48 cone-rod dystrophy, x-linked, 3 10.8 NYX CACNA2D4 CACNA1F CABP4
49 eye degenerative disease 10.8 USH2A SAG RPE65 RHO PDE6B GRK1
50 leber plus disease 10.8 USH2A SAG RPE65 RHO RDH5 PDE6B

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 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 58 31 frequent (33%) Very frequent (99-80%) HP:0007663
2 nyctalopia 58 31 frequent (33%) Very frequent (99-80%) HP:0000662
3 optic disc hypoplasia 31 frequent (33%) HP:0007766
4 high myopia 31 frequent (33%) HP:0011003
5 abnormality of macular pigmentation 31 frequent (33%) HP:0008002
6 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
7 strabismus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000486
8 abnormality of retinal pigmentation 58 Very rare (<4-1%)
9 myopia 58 Very frequent (99-80%)
10 color vision defect 58 Very rare (<4-1%)
11 hypermetropia 58 Occasional (29-5%)
12 retinal thinning 58 Very rare (<4-1%)
13 abnormal dark-adapted electroretinogram 58 Very frequent (99-80%)
14 electronegative electroretinogram 58 Occasional (29-5%)
15 congenital stationary night blindness with normal fundus 58 Frequent (79-30%)
16 congenital stationary night blindness with abnormal fundus 58 Frequent (79-30%)
17 reduced amplitude of dark-adapted bright flash electroretinogram a-wave 58 Occasional (29-5%)
18 compensatory head posture 58 Occasional (29-5%)

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.98 GRK1
2 Decreased viability GR00240-S-1 9.98 LRIT3 RDH5
3 Decreased viability GR00249-S 9.98 PDE6B
4 Decreased viability GR00301-A 9.98 GRK1
5 Decreased viability GR00342-S-1 9.98 GRK1
6 Decreased viability GR00342-S-2 9.98 GRK1
7 Decreased viability GR00381-A-1 9.98 CACNA2D4 LRIT3 NYX RDH5
8 Decreased viability GR00381-A-2 9.98 NYX
9 Decreased viability GR00381-A-3 9.98 NYX
10 Decreased viability GR00386-A-1 9.98 GNB3 RDH5 TRPM1
11 Decreased viability GR00402-S-2 9.98 GRK1 NYX RHO SLC24A1 TRPM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 PDE6B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.47 GNAT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.47 GNAT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.47 CACNA2D4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.47 CACNA2D4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.47 GNAT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.47 CACNA2D4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.47 CACNA2D4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.47 GNAT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.47 PDE6B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.47 GNAT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.47 GNAT1 PDE6B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.47 CACNA2D4

MGI Mouse Phenotypes related to Congenital Stationary Night Blindness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GRK1
2 vision/eye MP:0005391 9.6 ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3
3 pigmentation MP:0001186 9.35 ABCA4 GNAT1 PDE6B RHO RPE65

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 7235-40-7
2 Carotenoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
2 Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations Completed NCT01878032
3 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985

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 29

Anatomical Context for Congenital Stationary Night Blindness

MalaCards organs/tissues related to Congenital Stationary Night Blindness:

40
Eye, Retina, Testes, Skeletal Muscle

Publications for Congenital Stationary Night Blindness

Articles related to Congenital Stationary Night Blindness:

(show top 50) (show all 471)
# Title Authors PMID Year
1
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. 54 6 61
17405131 2007
2
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. 54 6 61
17044014 2007
3
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. 61 6 54
12719097 2003
4
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 61 6 54
11062471 2000
5
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 54 6 61
11062472 2000
6
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. 61 6
26822852 2016
7
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 6 61
23714322 2013
8
Clinical characterisation of the CABP4-related retinal phenotype. 6 61
23099293 2013
9
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. 6 61
23246293 2013
10
GNAT1 associated with autosomal recessive congenital stationary night blindness. 6 61
22190596 2012
11
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 6 61
22325361 2012
12
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 61 6
22325362 2012
13
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 6 61
20850105 2010
14
TRPM1 mutations are associated with the complete form of congenital stationary night blindness. 61 6
20300565 2010
15
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. 6 61
20157620 2010
16
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. 6 61
19878917 2009
17
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 6 61
19896113 2009
18
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. 6 61
19896109 2009
19
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. 6 61
19074807 2009
20
X-Linked Congenital Stationary Night Blindness 61 6
20301423 2008
21
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. 61 6
17584859 2007
22
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. 6 61
16960802 2006
23
CSNB1 in Chinese families associated with novel mutations in NYX. 6 61
16670814 2006
24
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 6 61
16249515 2005
25
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. 6 61
11874764 2002
26
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. 61 6
9888392 1999
27
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 61 6
9662399 1998
28
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 61 6
9662400 1998
29
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. 6 61
9529339 1998
30
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 61 6
8673138 1996
31
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 6 61
8075643 1994
32
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 61 6
8358437 1993
33
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. 6
26472407 2016
34
TRPM1 forms ion channels associated with melanin content in melanocytes. 6
19436059 2009
35
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. 6
15781871 2005
36
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 6
8107847 1994
37
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. 54 61
20238058 2010
38
Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. 54 61
19666700 2009
39
Sequence variations of GRM6 in patients with high myopia. 61 54
19862333 2009
40
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. 54 61
18246026 2008
41
Attenuation of oscillatory potentials in nob2 mice. 54 61
17479213 2007
42
A novel CACNA1F gene mutation causes Aland Island eye disease. 54 61
17525176 2007
43
Mutations in NYX of individuals with high myopia, but without night blindness. 54 61
17392683 2007
44
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 61 54
16505158 2006
45
Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. 61 54
16622103 2006
46
Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. 54 61
16261423 2005
47
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. 54 61
15877050 2005
48
Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. 61 54
15905181 2005
49
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 54 61
15897456 2005
50
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. 61 54
15807819 2005

Variations for Congenital Stationary Night Blindness

ClinVar genetic disease variations for Congenital Stationary Night Blindness:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)SNV Pathogenic 438093 rs61751398 1:94508386-94508386 1:94042830-94042830
2 GRM6 NM_000843.4(GRM6):c.577del (p.Val193fs)deletion Pathogenic 437970 rs781463257 5:178419012-178419012 5:178992011-178992011
3 CACNA1F NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)deletion Pathogenic 438118 rs1557110192 X:49083490-49083490 X:49227028-49227028
4 TRPM1 NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)SNV Pathogenic 812434 15:31327816-31327816 15:31035613-31035613
5 TRPM1 NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)SNV Pathogenic 812435 15:31355340-31355340 15:31063137-31063137
6 NYX NM_022567.2(NYX):c.797T>C (p.Leu266Pro)SNV Pathogenic 812359 X:41333503-41333503 X:41474250-41474250
7 CACNA1F NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)SNV Pathogenic 812245 X:49068407-49068407 X:49211947-49211947
8 CACNA1F NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)SNV Pathogenic 812246 X:49069148-49069148 X:49212688-49212688
9 CACNA1F NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)deletion Pathogenic 812247 X:49075156-49075156 X:49218697-49218697
10 CACNA1F NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)SNV Pathogenic 812248 X:49076166-49076166 X:49219707-49219707
11 CACNA1F NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)SNV Pathogenic 812249 X:49079044-49079044 X:49222585-49222585
12 CACNA1F NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)duplication Pathogenic 812252 X:49088221-49088222 X:49231759-49231760
13 NYX NC_000023.11:g.41474520_41474521GT[1]short repeat Pathogenic 812361 X:41333773-41333774 X:41474520-41474521
14 NYX NM_022567.2(NYX):c.1261_1262dup (p.Ala422fs)duplication Pathogenic 812362 X:41333966-41333967 X:41474713-41474714
15 CACNA1F NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)SNV Pathogenic 11615 rs122456134 X:49074970-49074970 X:49218511-49218511
16 CACNA1F NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)SNV Pathogenic 11617 rs122456135 X:49075803-49075803 X:49219344-49219344
17 GPR179 NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)indel Pathogenic/Likely pathogenic 286815 rs886043488 17:36495400-36495404 17:38339517-38339521
18 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs)deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
19 TRPM1 NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)SNV Pathogenic/Likely pathogenic 593857 rs1485132228 15:31327754-31327754 15:31035551-31035551
20 PDE6B NM_000283.3(PDE6B):c.293G>A (p.Arg98His)SNV Likely pathogenic 636061 4:619708-619708 4:625919-625919
21 GRK1 NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)SNV Likely pathogenic 636033 13:114436046-114436046 13:113733073-113733073
22 CACNA1F NM_001256789.3(CACNA1F):c.946_948TTC[2] (p.Phe318del)short repeat Likely pathogenic 438129 rs1557110499 X:49084773-49084775 X:49228311-49228313
23 CACNA1F NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)SNV Likely pathogenic 438128 rs1557110988 X:49086715-49086715 X:49230253-49230253
24 NYX NM_022567.2(NYX):c.1018T>G (p.Cys340Gly)SNV Likely pathogenic 812360 X:41333724-41333724 X:41474471-41474471
25 ABCA4 NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)SNV Likely pathogenic 438106 rs1553186509 1:94467470-94467470 1:94001914-94001914
26 GPR179 NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)duplication Likely pathogenic 505393 rs1200683561 17:36486744-36486745 17:38330861-38330862
27 NYX NM_022567.2(NYX):c.350T>A (p.Leu117Gln)SNV Likely pathogenic 812357 X:41333056-41333056 X:41473803-41473803
28 NYX NM_022567.2(NYX):c.496G>C (p.Ala166Pro)SNV Likely pathogenic 812358 X:41333202-41333202 X:41473949-41473949
29 GRM6 NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del)deletion Likely pathogenic 437969 rs1237461749 5:178421814-178421828 5:178994813-178994827
30 RBP3 NM_002900.3(RBP3):c.826_828TTC[2] (p.Phe278del)short repeat Likely pathogenic 437963 rs782604129 10:48390044-48390046 10:47349309-47349311
31 TRPM1 NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs)duplication Likely pathogenic 438219 rs770380556 15:31320613-31320614 15:31028410-31028411
32 TRPM1 NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)SNV Likely pathogenic 438218 rs748046539 15:31320654-31320654 15:31028451-31028451
33 TRPM1 NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)SNV Likely pathogenic 438217 rs1555418784 15:31320673-31320673 15:31028470-31028470
34 TRPM1 NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)SNV Likely pathogenic 438222 rs1555424166 15:31355454-31355454 15:31063251-31063251
35 TRPM1 NM_001252024.2(TRPM1):c.618+3_618+6deldeletion Likely pathogenic 438221 rs781610444 15:31359260-31359263 15:31067057-31067060
36 TRPM1 NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)SNV Likely pathogenic 438220 rs1555424849 15:31360195-31360195 15:31067992-31067992
37 RPGR NM_000328.3(RPGR):c.633del (p.Tyr212fs)deletion Likely pathogenic 438146 rs1555966753 X:38170013-38170013 X:38310760-38310760
38 NYX NM_022567.2(NYX):c.992_997TCTTCC[1] (p.331_332LF[1])short repeat Likely pathogenic 438057 rs1555967281 X:41333696-41333701 X:41474443-41474448
39 CACNA1F NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)SNV Likely pathogenic 438127 rs1557106008 X:49067096-49067096 X:49210636-49210636
40 CACNA1F NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)deletion Likely pathogenic 438124 rs1557107192 X:49071931-49071932 X:49215471-49215472
41 CACNA1F NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)SNV Likely pathogenic 438123 rs1557107417 X:49072898-49072898 X:49216438-49216438
42 CACNA1F NM_001256789.3(CACNA1F):c.2733+1G>ASNV Likely pathogenic 438122 rs1557108147 X:49075340-49075340 X:49218881-49218881
43 CACNA1F NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)deletion Likely pathogenic 438121 rs1557109796 X:49082513-49082517 X:49226051-49226055
44 CACNA1F NM_001256789.3(CACNA1F):c.1433_1463+7deldeletion Likely pathogenic 438120 rs1557109912 X:49082864-49082901 X:49226402-49226439
45 CACNA1F NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)insertion Likely pathogenic 438119 rs1557110046 X:49083135-49083136 X:49226673-49226674
46 GRM6 NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)SNV Likely pathogenic 5844 rs62638197 5:178421809-178421809 5:178994808-178994808
47 CACNA1F NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)SNV Likely pathogenic 812243 X:49067081-49067081 X:49210621-49210621
48 CACNA1F NM_001256789.3(CACNA1F):c.4261-9G>ASNV Likely pathogenic 812244 X:49067561-49067561 X:49211101-49211101
49 GPR179 NM_001004334.4(GPR179):c.984del (p.Ser329fs)deletion Conflicting interpretations of pathogenicity 31204 rs770066665 17:36493523-36493523 17:38337640-38337640
50 TRPM1 NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)SNV Uncertain significance 225502 rs768701595 15:31352747-31352747 15:31060544-31060544

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 related to Congenital Stationary Night Blindness according to KEGG:

36
# Name Kegg Source Accession
1 Phototransduction hsa04744
2 MAPK signaling pathway hsa04010
3 Calcium signaling pathway hsa04020
4 Neuroactive ligand-receptor interaction hsa04080
5 Glutamatergic synapse hsa04724

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 10.27 USH2A TRPM1 SLC24A1 SAG RPE65 RHO
2 plasma membrane GO:0005886 10.23 USH2A TRPM1 SLC24A1 RPE65 RHO PDE6B
3 cell projection GO:0042995 9.86 USH2A SAG RHO LRIT3 GRM6 GRK1
4 cell body GO:0044297 9.58 RPE65 RDH5 GNB3
5 photoreceptor inner segment GO:0001917 9.46 USH2A SAG RHO GNAT1
6 photoreceptor outer segment membrane GO:0042622 9.43 RHO GNAT1
7 photoreceptor disc membrane GO:0097381 9.35 RHO PDE6B GRK1 GNAT1 ABCA4
8 new growing cell tip GO:0035841 9.32 TRPM1 GRM6
9 photoreceptor outer segment GO:0001750 9.17 SAG RHO PDE6B GRK1 GNAT1 CACNA1F

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 TRPM1 SAG RHO PDE6B NLRP12 GRM6
2 calcium ion transmembrane transport GO:0070588 9.84 TRPM1 SLC24A1 CACNA2D4 CACNA1F
3 retina development in camera-type eye GO:0060041 9.8 RPE65 RHO PDE6B GRM6 GNAT1
4 response to stimulus GO:0050896 9.8 USH2A TRPM1 SLC24A1 RPE65 RHO RDH5
5 retinoid metabolic process GO:0001523 9.76 RPE65 RHO RDH5 ABCA4
6 photoreceptor cell maintenance GO:0045494 9.72 USH2A RHO ABCA4
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.72 SAG RHO PDE6B GRK1 GNAT1
8 phototransduction GO:0007602 9.69 RHO GNAT1 CABP4
9 response to light stimulus GO:0009416 9.67 RPE65 RHO GNAT1
10 phototransduction, visible light GO:0007603 9.67 RHO PDE6B GNAT1 ABCA4
11 detection of light stimulus involved in visual perception GO:0050908 9.65 RPE65 GRM6 GNAT1 CACNA2D4 CACNA1F
12 sensory perception of light stimulus GO:0050953 9.61 USH2A RHO GRM6
13 cellular response to light stimulus GO:0071482 9.58 TRPM1 RHO
14 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.58 TRPM1 GRM6
15 cellular response to electrical stimulus GO:0071257 9.57 RPE65 GNAT1
16 response to light intensity GO:0009642 9.56 SLC24A1 GNAT1
17 rhodopsin mediated signaling pathway GO:0016056 9.55 SAG RHO PDE6B GRK1 GNAT1
18 visual perception GO:0007601 9.53 USH2A TRPM1 SLC24A1 RPE65 RHO RDH5
19 detection of light stimulus GO:0009583 9.52 RHO PDE6B

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.92 TRPM1 SLC24A1 CACNA2D4 CACNA1F

Sources for Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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