MCID: CNG010
MIFTS: 55

Congenital Stationary Night Blindness

Categories: Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Stationary Night Blindness

MalaCards integrated aliases for Congenital Stationary Night Blindness:

Name: Congenital Stationary Night Blindness 12 59 37 29 6 15
Night Blindness, Congenital Stationary 76 55 73
Congenital Essential Nyctalopia 12 59
Oguchi Disease 44 73
Blindness, Night, Stationary, Congenital 40

Characteristics:

Orphanet epidemiological data:

59
congenital stationary night blindness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050534
ICD10 33 H53.63
ICD9CM 35 368.61
MeSH 44 C537743
Orphanet 59 ORPHA215
MESH via Orphanet 45 C536122
UMLS via Orphanet 74 C0339535
ICD10 via Orphanet 34 H53.6
KEGG 37 H00787

Summaries for Congenital Stationary Night Blindness

Disease Ontology : 12 A 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.

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 dominant congenital stationary night blindness. An important gene associated with Congenital Stationary Night Blindness is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Phototransduction and MAPK signaling pathway. The drugs Beta carotene and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related phenotypes are nyctalopia and reduced visual acuity

Wikipedia : 76 X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal... 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 54)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 35.6 CACNA1F NLRP12 NYX
2 autosomal dominant congenital stationary night blindness 35.5 GNAT1 PDE6B RHO
3 autosomal recessive congenital stationary night blindness 35.3 GNAT1 GNB3 GRM6 SLC24A1
4 night blindness, congenital stationary, type 2a 34.8 CACNA1F NYX
5 night blindness, congenital stationary, type 1b 34.8 GPR179 GRM6 LRIT3 NYX TRPM1
6 night blindness, congenital stationary, type 1e 34.4 CACNA1F GPR179 NLRP12 NYX
7 hereditary night blindness 33.5 CACNA1F GRK1 GRM6 NYX RDH5 RHO
8 myopia 31.8 CACNA1F GNAT1 GRM6 NYX RHO
9 aland island eye disease 31.4 CACNA1F NYX RPE65
10 stargardt disease 31.2 ABCA4 RHO RPE65
11 night blindness 30.8 CABP4 CACNA1F GNAT1 GNB3 GPR179 GRK1
12 retinitis pigmentosa 30.0 ABCA4 CACNA1F CACNA2D4 GNAT1 GRK1 NYX
13 night blindness, congenital stationary, type 1a 12.4
14 night blindness, congenital stationary, type 1d 12.1
15 night blindness, congenital stationary, type 1f 12.1
16 oguchi disease 1 12.1
17 night blindness, congenital stationary, autosomal dominant 2 12.1
18 night blindness, congenital stationary, autosomal dominant 3 12.1
19 night blindness, congenital stationary, autosomal dominant 1 12.1
20 night blindness, congenital stationary, type 1h 12.0
21 night blindness, congenital stationary, type 1c 12.0
22 night blindness, congenital stationary, type 1g 12.0
23 oguchi disease 2 11.9
24 cone-rod synaptic disorder, congenital nonprogressive 11.5
25 nystagmus 1, congenital, x-linked 11.1
26 melanoma-associated retinopathy 11.0 RHO SAG TRPM1
27 scotoma 10.9 ABCA4 RDH5 TRPM1
28 severe early-childhood-onset retinal dystrophy 10.9 ABCA4 RPE65
29 cone-rod dystrophy 3 10.9 ABCA4 CACNA1F
30 yemenite deaf-blind hypopigmentation syndrome 10.8 ABCA4 RHO RPE65
31 red-green color blindness 10.8 ABCA4 RHO RPE65
32 achromatopsia 3 10.8 CACNA1F NYX RPE65
33 stargardt macular degeneration 10.8 ABCA4 RHO
34 usher syndrome, type iid 10.8 CACNA1D GRK1 RHO
35 degeneration of macula and posterior pole 10.8 ABCA4 RHO RPE65
36 pineocytoma 10.8 RHO SAG
37 retinitis pigmentosa 19 10.8 ABCA4 PDE6B
38 cone-rod dystrophy 2 10.7 ABCA4 CACNA1F RHO RPE65
39 retinitis pigmentosa 43 10.7 PDE6B RHO
40 macular degeneration, age-related, 1 10.7 ABCA4 PDE6B RHO RPE65
41 retinal degeneration 10.6 ABCA4 PDE6B RHO RPE65 SAG
42 bardet-biedl syndrome 5 10.5 RHO SAG
43 leber congenital amaurosis 10.5 ABCA4 CABP4 GRK1 PDE6B RHO RPE65
44 retinitis 10.5
45 fundus dystrophy 10.5 ABCA4 GRK1 PDE6B RDH5 RHO RPE65
46 leber congenital amaurosis 4 10.3
47 cancer-associated retinopathy 10.3 RHO SAG
48 fundus albipunctatus 10.2 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
49 muscular dystrophy, duchenne type 10.2
50 muscular dystrophy 10.2

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 59 32 frequent (33%) Frequent (79-30%) HP:0000662
2 reduced visual acuity 59 32 frequent (33%) Frequent (79-30%) HP:0007663
3 optic disc hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007766
4 abnormality of macular pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0008002
5 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 abnormal retinal morphology 59 Very frequent (99-80%)
8 abnormality of the fundus 59 Frequent (79-30%)
9 severe myopia 59 Frequent (79-30%)
10 high myopia 32 frequent (33%) HP:0011003

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.16 GRK1
2 Decreased viability GR00240-S-1 10.16 LRIT3 RDH5
3 Decreased viability GR00301-A 10.16 GRK1
4 Decreased viability GR00342-S-1 10.16 GRK1
5 Decreased viability GR00342-S-2 10.16 GRK1
6 Decreased viability GR00381-A-1 10.16 CACNA2D4 LRIT3 NYX RDH5
7 Decreased viability GR00381-A-2 10.16 NYX
8 Decreased viability GR00381-A-3 10.16 NYX
9 Decreased viability GR00402-S-2 10.16 ABCA4 CABP4 CACNA1D CACNA1F CACNA2D4 GNAT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.09 GNAT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.09 GNAT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.09 GNAT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 10.09 PDE6B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 10.09 PDE6B
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.09 CACNA2D4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.09 GNAT1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.09 CACNA2D4
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.09 GNAT1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.09 PDE6B
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.09 PDE6B CACNA2D4 GNAT1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.09 PDE6B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 10.09 GNAT1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.09 CACNA2D4
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 10.09 PDE6B
25 no effect GR00402-S-1 9.62 ABCA4 CABP4 CACNA1D CACNA1F CACNA2D4 GNAT1

MGI Mouse Phenotypes related to Congenital Stationary Night Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ABCA4 CABP4 CACNA1D CACNA1F GNAT1 GNB3
2 vision/eye MP:0005391 9.58 GRM6 LRIT3 NYX PDE6B RDH5 RHO
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):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Beta carotene Approved, Nutraceutical Not Applicable 7235-40-7
2 Antioxidants Not Applicable
3 Carotenoids Not Applicable
4 Micronutrients Not Applicable
5 Protective Agents Not Applicable
6 Trace Elements Not Applicable
7 Vitamins Not Applicable

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 Not Applicable
2 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
3 Inherited Retinal Degenerative Disease 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 29

Anatomical Context for Congenital Stationary Night Blindness

MalaCards organs/tissues related to Congenital Stationary Night Blindness:

41
Eye, Skeletal Muscle

Publications for Congenital Stationary Night Blindness

Articles related to Congenital Stationary Night Blindness:

(show top 50) (show all 187)
# Title Authors Year
1
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. ( 29522070 )
2018
2
Revisiting Congenital Stationary Night Blindness in the Molecular Era. ( 29522064 )
2018
3
A Novel Heterozygous Missense Mutation in <i>GNAT1</i> Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. ( 29850563 )
2018
4
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )
2018
5
Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. ( 28512427 )
2017
6
Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. ( 27803854 )
2016
7
Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics. ( 27267879 )
2016
8
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. ( 27329127 )
2016
9
Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer. ( 27084085 )
2016
10
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )
2016
11
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )
2016
12
Clinical Characteristics, Mutation Spectrum, and Prevalence of A8land Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. ( 28002560 )
2016
13
Structural role of the T94I rhodopsin mutation in congenital stationary night blindness. ( 27458239 )
2016
14
Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness. ( 27601873 )
2016
15
Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. ( 27428514 )
2016
16
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. ( 26628857 )
2015
17
Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness. ( 26310623 )
2015
18
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )
2015
19
Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness. ( 26241901 )
2015
20
Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. ( 25748727 )
2015
21
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. ( 26234941 )
2015
22
A truncated form of rod photoreceptor PDE6 I^-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the I^-subunit. ( 24760071 )
2014
23
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. ( 24796500 )
2014
24
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. ( 24397708 )
2014
25
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). ( 24598786 )
2014
26
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. ( 24466230 )
2014
27
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. ( 24715752 )
2014
28
Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms. ( 25307992 )
2014
29
Dysregulation of Cav 1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. ( 24064553 )
2013
30
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin. ( 23579341 )
2013
31
Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness. ( 23296619 )
2013
32
Photoreceptor and postreceptor responses in congenital stationary night blindness. ( 23761088 )
2013
33
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. ( 23246293 )
2013
34
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. ( 24051672 )
2013
35
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. ( 23714322 )
2013
36
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. ( 24167615 )
2013
37
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. ( 24222301 )
2013
38
Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation. ( 23289809 )
2013
39
Assessment of night vision problems in patients with congenital stationary night blindness. ( 23658786 )
2013
40
CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness. ( 24332535 )
2013
41
Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness. ( 23966763 )
2013
42
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. ( 22959359 )
2012
43
[Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness]. ( 22487821 )
2012
44
Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. ( 22735794 )
2012
45
Congenital stationary night blindness: mutation update and clinical variability. ( 22183355 )
2012
46
Retinal horizontal cells reduced in a rat model of congenital stationary night blindness. ( 22634626 )
2012
47
Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation. ( 22800190 )
2012
48
GNAT1 associated with autosomal recessive congenital stationary night blindness. ( 22190596 )
2012
49
Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. ( 22051042 )
2012
50
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. ( 22325362 )
2012

Variations for Congenital Stationary Night Blindness

ClinVar genetic disease variations for Congenital Stationary Night Blindness:

6
(show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRM6 NM_000843.3(GRM6): c.137C> T (p.Pro46Leu) single nucleotide variant Likely pathogenic rs62638197 GRCh37 Chromosome 5, 178421809: 178421809
2 GRM6 NM_000843.3(GRM6): c.137C> T (p.Pro46Leu) single nucleotide variant Likely pathogenic rs62638197 GRCh38 Chromosome 5, 178994808: 178994808
3 CACNA1F NM_005183.3(CACNA1F): c.2905C> T (p.Arg969Ter) single nucleotide variant Pathogenic rs122456134 GRCh37 Chromosome X, 49074970: 49074970
4 CACNA1F NM_005183.3(CACNA1F): c.2905C> T (p.Arg969Ter) single nucleotide variant Pathogenic rs122456134 GRCh38 Chromosome X, 49218511: 49218511
5 GPR179 NM_001004334.3(GPR179): c.984delC (p.Ser329Leufs) deletion Pathogenic/Likely pathogenic rs770066665 GRCh37 Chromosome 17, 36493523: 36493523
6 GPR179 NM_001004334.3(GPR179): c.984delC (p.Ser329Leufs) deletion Pathogenic/Likely pathogenic rs770066665 GRCh38 Chromosome 17, 38337640: 38337640
7 GPR179 NM_001004334.3(GPR179): c.799_803delCAGGTinsTGATCTAC (p.Gln267_Leu602delinsTer) indel Pathogenic/Likely pathogenic rs886043488 GRCh37 Chromosome 17, 36495400: 36495404
8 GPR179 NM_001004334.3(GPR179): c.799_803delCAGGTinsTGATCTAC (p.Gln267_Leu602delinsTer) indel Pathogenic/Likely pathogenic rs886043488 GRCh38 Chromosome 17, 38339517: 38339521
9 TRPM1 NM_002420.5(TRPM1): c.3004A> T (p.Ile1002Phe) single nucleotide variant Uncertain significance rs369484186 GRCh37 Chromosome 15, 31323243: 31323243
10 TRPM1 NM_002420.5(TRPM1): c.3004A> T (p.Ile1002Phe) single nucleotide variant Uncertain significance rs369484186 GRCh38 Chromosome 15, 31031040: 31031040
11 ABCA4 NM_000350.2(ABCA4): c.6226A> G (p.Lys2076Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 94467470: 94467470
12 ABCA4 NM_000350.2(ABCA4): c.6226A> G (p.Lys2076Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 94001914: 94001914
13 ABCA4 NM_000350.2(ABCA4): c.3259G> T (p.Glu1087Ter) single nucleotide variant Pathogenic rs61751398 GRCh38 Chromosome 1, 94042830: 94042830
14 ABCA4 NM_000350.2(ABCA4): c.3259G> T (p.Glu1087Ter) single nucleotide variant Pathogenic rs61751398 GRCh37 Chromosome 1, 94508386: 94508386
15 GRM6 NM_000843.3(GRM6): c.577delG (p.Val193Trpfs) deletion Pathogenic rs781463257 GRCh38 Chromosome 5, 178992011: 178992011
16 GRM6 NM_000843.3(GRM6): c.577delG (p.Val193Trpfs) deletion Pathogenic rs781463257 GRCh37 Chromosome 5, 178419012: 178419012
17 GRM6 NM_000843.3(GRM6): c.118_132delACGCTGGGCGGCCTG (p.Thr40_Leu44del) deletion Likely pathogenic GRCh37 Chromosome 5, 178421814: 178421828
18 GRM6 NM_000843.3(GRM6): c.118_132delACGCTGGGCGGCCTG (p.Thr40_Leu44del) deletion Likely pathogenic GRCh38 Chromosome 5, 178994813: 178994827
19 RBP3 NM_002900.2(RBP3): c.832_834delTTC (p.Phe278del) deletion Likely pathogenic rs782604129 GRCh37 Chromosome 10, 48390044: 48390046
20 RBP3 NM_002900.2(RBP3): c.832_834delTTC (p.Phe278del) deletion Likely pathogenic rs782604129 GRCh38 Chromosome 10, 47349316: 47349318
21 TRPM1 NM_002420.5(TRPM1): c.3148dup (p.Trp1050Leufs) duplication Likely pathogenic rs770380556 GRCh37 Chromosome 15, 31320614: 31320614
22 TRPM1 NM_002420.5(TRPM1): c.3148dup (p.Trp1050Leufs) duplication Likely pathogenic rs770380556 GRCh38 Chromosome 15, 31028411: 31028411
23 TRPM1 NM_001252020.1(TRPM1): c.3225T> A (p.Asp1075Glu) single nucleotide variant Likely pathogenic rs748046539 GRCh37 Chromosome 15, 31320654: 31320654
24 TRPM1 NM_001252020.1(TRPM1): c.3225T> A (p.Asp1075Glu) single nucleotide variant Likely pathogenic rs748046539 GRCh38 Chromosome 15, 31028451: 31028451
25 TRPM1 NM_001252020.1(TRPM1): c.3206G> A (p.Cys1069Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 31028470: 31028470
26 TRPM1 NM_001252020.1(TRPM1): c.3206G> A (p.Cys1069Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 31320673: 31320673
27 TRPM1 NM_001252020.1(TRPM1): c.883G> A (p.Gly295Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 31063251: 31063251
28 TRPM1 NM_001252020.1(TRPM1): c.883G> A (p.Gly295Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 31355454: 31355454
29 TRPM1 NM_001252020.1(TRPM1): c.669+3_669+6delAAGT deletion Likely pathogenic rs781610444 GRCh38 Chromosome 15, 31067057: 31067060
30 TRPM1 NM_001252020.1(TRPM1): c.669+3_669+6delAAGT deletion Likely pathogenic rs781610444 GRCh37 Chromosome 15, 31359260: 31359263
31 TRPM1 NM_001252020.1(TRPM1): c.431G> A (p.Gly144Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 31067992: 31067992
32 TRPM1 NM_001252020.1(TRPM1): c.431G> A (p.Gly144Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 31360195: 31360195
33 RPGR NM_001034853.1(RPGR): c.633delA (p.Tyr212Metfs) deletion Likely pathogenic GRCh38 Chromosome X, 38310760: 38310760
34 RPGR NM_001034853.1(RPGR): c.633delA (p.Tyr212Metfs) deletion Likely pathogenic GRCh37 Chromosome X, 38170013: 38170013
35 NYX NM_022567.2(NYX): c.998_1003delTCTTCC (p.Leu333_Phe334del) deletion Likely pathogenic GRCh37 Chromosome X, 41333704: 41333709
36 NYX NM_022567.2(NYX): c.998_1003delTCTTCC (p.Leu333_Phe334del) deletion Likely pathogenic GRCh38 Chromosome X, 41474451: 41474456
37 CACNA1F NM_005183.3(CACNA1F): c.4472C> T (p.Pro1491Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 49210636: 49210636
38 CACNA1F NM_005183.3(CACNA1F): c.4472C> T (p.Pro1491Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49067096: 49067096
39 CACNA1F NM_005183.3(CACNA1F): c.3341_3342delCA (p.Ser1114Cysfs) deletion Likely pathogenic GRCh38 Chromosome X, 49215471: 49215472
40 CACNA1F NM_005183.3(CACNA1F): c.3341_3342delCA (p.Ser1114Cysfs) deletion Likely pathogenic GRCh37 Chromosome X, 49071931: 49071932
41 CACNA1F NM_005183.3(CACNA1F): c.3213T> G (p.Asn1071Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49072898: 49072898
42 CACNA1F NM_005183.3(CACNA1F): c.3213T> G (p.Asn1071Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 49216438: 49216438
43 CACNA1F NM_005183.3(CACNA1F): c.2766+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 49218881: 49218881
44 CACNA1F NM_005183.3(CACNA1F): c.2766+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 49075340: 49075340
45 CACNA1F NM_005183.3(CACNA1F): c.1538_1542delGAGCC (p.Arg513Glnfs) deletion Likely pathogenic GRCh37 Chromosome X, 49082513: 49082517
46 CACNA1F NM_005183.3(CACNA1F): c.1538_1542delGAGCC (p.Arg513Glnfs) deletion Likely pathogenic GRCh38 Chromosome X, 49226051: 49226055
47 CACNA1F NM_005183.3(CACNA1F): c.1466_1496+7del38 deletion Likely pathogenic GRCh37 Chromosome X, 49082864: 49082901
48 CACNA1F NM_005183.3(CACNA1F): c.1466_1496+7del38 deletion Likely pathogenic GRCh38 Chromosome X, 49226402: 49226439
49 CACNA1F NM_005183.3(CACNA1F): c.1338_1339insT (p.Arg447Terfs) insertion Likely pathogenic GRCh37 Chromosome X, 49083135: 49083136
50 CACNA1F NM_005183.3(CACNA1F): c.1338_1339insT (p.Arg447Terfs) insertion Likely pathogenic GRCh38 Chromosome X, 49226673: 49226674

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:

37
# 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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GRM6
2
Show member pathways
12.71 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GRM6
3
Show member pathways
12.63 CACNA1D CACNA1F CACNA2D4 GNB3 GRK1
4
Show member pathways
12.14 ABCA4 GNAT1 GRK1 PDE6B RDH5 RHO
5 11.86 CACNA1D CACNA1F CACNA2D4
6
Show member pathways
11.81 CACNA1D CACNA1F CACNA2D4
7
Show member pathways
11.8 GNAT1 GNB3 GRK1 PDE6B RDH5 RHO
8 11.72 CACNA1D CACNA1F GNB3
9 11.52 CACNA1D CACNA1F CACNA2D4
10
Show member pathways
11.48 CACNA1D CACNA1F CACNA2D4
11
Show member pathways
11.3 ABCA4 RDH5 RHO RPE65
12 11.26 CACNA1D CACNA1F CACNA2D4
13 11.25 CABP4 GNAT1 GRK1 PDE6B RDH5 RHO
14
Show member pathways
10.85 CACNA1D CACNA1F

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 cell body GO:0044297 9.58 GNB3 RDH5 RPE65
2 photoreceptor inner segment GO:0001917 9.5 GNAT1 RHO SAG
3 photoreceptor outer segment membrane GO:0042622 9.43 GNAT1 RHO
4 voltage-gated calcium channel complex GO:0005891 9.43 CACNA1D CACNA1F CACNA2D4
5 photoreceptor outer segment GO:0001750 9.35 ABCA4 CACNA1F GNAT1 RHO SAG
6 new growing cell tip GO:0035841 9.16 GRM6 TRPM1
7 photoreceptor disc membrane GO:0097381 9.02 ABCA4 GNAT1 GRK1 PDE6B RHO
8 membrane GO:0016020 10.27 ABCA4 CACNA1D CACNA1F CACNA2D4 GNAT1 GPR179
9 plasma membrane GO:0005886 10.23 CACNA1D CACNA1F CACNA2D4 GNAT1 GNB3 GPR179

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.84 CACNA1D CACNA1F CACNA2D4 SLC24A1
2 calcium ion transmembrane transport GO:0070588 9.83 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1
3 visual perception GO:0007601 9.83 ABCA4 CABP4 CACNA1F GNAT1 GPR179 GRK1
4 retina development in camera-type eye GO:0060041 9.8 GNAT1 GRM6 PDE6B RHO RPE65
5 retinoid metabolic process GO:0001523 9.76 ABCA4 RDH5 RHO RPE65
6 cardiac conduction GO:0061337 9.72 CACNA1D CACNA1F CACNA2D4
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.72 GNAT1 GRK1 PDE6B RHO SAG
8 phototransduction GO:0007602 9.67 CABP4 GNAT1 RHO
9 phototransduction, visible light GO:0007603 9.67 ABCA4 GNAT1 PDE6B RHO
10 response to light stimulus GO:0009416 9.65 GNAT1 RHO RPE65
11 detection of light stimulus involved in visual perception GO:0050908 9.65 CACNA1F CACNA2D4 GNAT1 GRM6 RPE65
12 calcium ion import GO:0070509 9.61 CACNA1D CACNA1F
13 G-protein coupled glutamate receptor signaling pathway GO:0007216 9.59 GRM6 TRPM1
14 cellular response to light stimulus GO:0071482 9.58 RHO TRPM1
15 cellular response to electrical stimulus GO:0071257 9.58 GNAT1 RPE65
16 sensory perception of light stimulus GO:0050953 9.57 GRM6 RHO
17 response to light intensity GO:0009642 9.56 GNAT1 SLC24A1
18 rhodopsin mediated signaling pathway GO:0016056 9.55 GNAT1 GRK1 PDE6B RHO SAG
19 detection of light stimulus GO:0009583 9.52 PDE6B RHO
20 response to stimulus GO:0050896 9.44 ABCA4 CACNA1F GNAT1 GRK1 GRM6 LRIT3
21 signal transduction GO:0007165 10.21 CABP4 GNAT1 GNB3 GRK1 GRM6 NLRP12
22 ion transport GO:0006811 10 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1
23 transmembrane transport GO:0055085 10 ABCA4 CACNA1D CACNA1F SLC24A1 TRPM1

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

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 9.62 GNAT1 GNB3 GRM6 RHO
2 cation channel activity GO:0005261 9.33 CACNA1D CACNA1F TRPM1
3 high voltage-gated calcium channel activity GO:0008331 9.26 CACNA1D CACNA1F
4 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1D CACNA1F CACNA2D4
5 calcium channel activity GO:0005262 9.02 CACNA1D CACNA1F CACNA2D4 SLC24A1 TRPM1

Sources for 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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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