ESCS
MCID: ENH001
MIFTS: 51

Enhanced S-Cone Syndrome (ESCS)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

MalaCards integrated aliases for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 57 12 59 37 29 13 55 6 44 15 73
Goldmann-Favre Syndrome 59 73
Escs 57 75
Retinoschisis with Early Nyctalopia 59
S-Cone Syndrome, Enhanced 40
Enhanced S Cone Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 268100
Disease Ontology 12 DOID:0090059
MeSH 44 C564835
Orphanet 59 ORPHA53540
UMLS via Orphanet 74 C0339541 C1849394
ICD10 via Orphanet 34 H35.5
KEGG 37 H02075

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 75 Enhanced S cone syndrome: Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.

MalaCards based summary : Enhanced S-Cone Syndrome, also known as goldmann-favre syndrome, is related to goldmann-favre syndrome and retinal degeneration. An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways are Phototransduction and Nuclear Receptor transcription pathway. The drugs Anti-Infective Agents and Interferon-gamma have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and heart, and related phenotypes are cataract and edema

Disease Ontology : 12 A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has material basis in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23.

Description from OMIM: 268100

Related Diseases for Enhanced S-Cone Syndrome

Diseases related to Enhanced S-Cone Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 goldmann-favre syndrome 33.6 NR2E3 NRL
2 retinal degeneration 29.9 AIPL1 CRX NR2E3 NRL
3 leber congenital amaurosis 4 29.5 AIPL1 CRX
4 leber congenital amaurosis 29.1 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
5 retinitis pigmentosa 28.9 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
6 esterase c 11.8
7 atrial fibrillation 10.7
8 heart disease 10.6
9 myocardial infarction 10.6
10 arteries, anomalies of 10.5
11 coronary artery anomaly 10.4
12 acute myocardial infarction 10.4
13 thrombosis 10.4
14 cardiac conduction defect 10.4
15 pulmonary hypertension 10.3
16 peripheral artery disease 10.3
17 vasoproliferative tumor of the retina 10.3
18 infective endocarditis 10.2
19 endocarditis 10.2
20 pulmonary embolism 10.2
21 hypertrophic cardiomyopathy 10.2
22 syncope 10.2
23 aortic disease 10.2
24 color vision deficiency 10.1 CNGA3 NR2E3
25 cone-rod dystrophy 8 10.1 CNGA3 CRX
26 ichthyosis prematurity syndrome 10.1
27 measles 10.1
28 cone-rod dystrophy 9 10.0 CNGA3 CRX
29 cardiac arrhythmia 10.0
30 congestive heart failure 10.0
31 endometriosis 10.0
32 leber congenital amaurosis 9 10.0 AIPL1 CRX
33 multiple sclerosis 9.9
34 esophageal cancer 9.9
35 huntington disease 9.9
36 renal cell carcinoma, nonpapillary 9.9
37 migraine with or without aura 1 9.9
38 coronary heart disease 1 9.9
39 dilated cardiomyopathy 9.9
40 headache 9.9
41 retinitis pigmentosa 27 9.9
42 macular holes 9.9
43 retinal disease 9.9 AIPL1 CRX NRL
44 cone-rod dystrophy 2 9.9 AIPL1 CRX NR2E3
45 achromatopsia 3 9.9 AIPL1 CNGA3 CRX
46 retinoschisis 1, x-linked, juvenile 9.9 CRX KCNV2
47 achromatopsia 9.8 CNGA3 NR2E3 NRL RGS9BP
48 alzheimer disease 9.8
49 atherosclerosis susceptibility 9.8
50 hepatocellular carcinoma 9.8

Graphical network of the top 20 diseases related to Enhanced S-Cone Syndrome:



Diseases related to Enhanced S-Cone Syndrome

Symptoms & Phenotypes for Enhanced S-Cone Syndrome

Symptoms via clinical synopsis from OMIM:

57
Eyes:
cataract
retinoschisis
vitreoretinal degeneration
hemeralopia
macular edema
more
Lab:
extinguished electroretinogram


Clinical features from OMIM:

268100

Human phenotypes related to Enhanced S-Cone Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 edema 32 HP:0000969
3 nyctalopia 32 HP:0000662
4 retinoschisis 32 HP:0030502
5 pigmentary retinopathy 32 HP:0000580
6 hemeralopia 32 HP:0012047
7 macular edema 32 HP:0040049
8 vitreoretinopathy 32 HP:0007773
9 undetectable electroretinogram 32 HP:0000550

GenomeRNAi Phenotypes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 CNGA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 CNGA3 CRX NRL THRB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.09 NRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.09 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 CRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.09 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 THRB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.09 NRL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.09 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.09 THRB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.09 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 THRB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 CNGA3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 NRL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.09 NRL THRB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.09 NRL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.09 NRL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 THRB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.09 THRB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.09 CRX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.09 CRX
24 Increased transferrin (TF) endocytosis GR00363-A 9.17 AIPL1 CRX GRK1 KCNV2 NRL RGS9BP

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 AIPL1 CNGA3 CRX GRK1 NR1D1 NR2E3
2 vision/eye MP:0005391 9.28 AIPL1 CNGA3 CRX GRK1 NR1D1 NR2E3

Drugs & Therapeutics for Enhanced S-Cone Syndrome

Drugs for Enhanced S-Cone Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 1, Phase 2
2 Interferon-gamma Phase 1, Phase 2
3 interferons Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Enhanced S-Cone Syndrome

Cochrane evidence based reviews: enhanced s-cone syndrome

Genetic Tests for Enhanced S-Cone Syndrome

Genetic tests related to Enhanced S-Cone Syndrome:

# Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome 29 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

MalaCards organs/tissues related to Enhanced S-Cone Syndrome:

41
Eye, Kidney, Heart, Spinal Cord, Prostate, Retina

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
A FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. ( 29947801 )
2018
2
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. ( 29518905 )
2018
3
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. ( 29385733 )
2018
4
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. ( 29971438 )
2018
5
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. ( 30285900 )
2018
6
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant. ( 30466340 )
2018
7
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME. ( 28541266 )
2017
8
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. ( 26803827 )
2016
9
A new mutation in enhanced S-cone syndrome. ( 27573156 )
2016
10
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. ( 27424008 )
2016
11
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. ( 27033713 )
2016
12
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. ( 26878455 )
2016
13
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. ( 27522502 )
2016
14
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. ( 27732723 )
2016
15
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. ( 26154701 )
2015
16
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. ( 25663266 )
2015
17
Enhanced S-Cone Syndrome and Macular Hole. ( 26067693 )
2015
18
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. ( 25423642 )
2014
19
Clinical and molecular characterization of enhanced S-cone syndrome in children. ( 25079116 )
2014
20
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. ( 24425859 )
2014
21
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. ( 23292616 )
2013
22
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. ( 23650562 )
2013
23
Novel mutations in enhanced S-cone syndrome. ( 23374571 )
2013
24
Expanded clinical spectrum of enhanced S-cone syndrome. ( 23989059 )
2013
25
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. ( 22711506 )
2012
26
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. ( 21659555 )
2011
27
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. ( 21364904 )
2011
28
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. ( 20725840 )
2011
29
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. ( 20171741 )
2010
30
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. ( 20842519 )
2010
31
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. ( 25391052 )
2009
32
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. ( 18835469 )
2009
33
The enhanced S-cone syndrome in children. ( 21686439 )
2009
34
Long-term follow-up in enhanced s-cone syndrome. ( 25391051 )
2009
35
Phenotypic variation in enhanced S-cone syndrome. ( 18436841 )
2008
36
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance. ( 18227217 )
2008
37
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. ( 17601449 )
2007
38
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. ( 17438525 )
2007
39
The enhanced S-cone syndrome in children. ( 17322467 )
2007
40
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). ( 17109156 )
2006
41
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. ( 16167297 )
2005
42
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. ( 16225923 )
2005
43
A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. ( 16110338 )
2005
44
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). ( 15453866 )
2004
45
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. ( 15459973 )
2004
46
Ocular fundus images by scanning laser ophthalmoscopy in a patient with enhanced S-cone syndrome. ( 15579994 )
2004
47
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ( 12963616 )
2003
48
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. ( 12601058 )
2003
49
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. ( 12552256 )
2003
50
Enhanced S-cone syndrome with subfoveal neovascularization. ( 11931802 )
2002

Variations for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Enhanced S-Cone Syndrome:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Arg76Gln VAR_009266 rs104894493
2 NR2E3 p.Arg76Trp VAR_009267 rs104894492
3 NR2E3 p.Arg97His VAR_010025
4 NR2E3 p.Arg104Trp VAR_010026 rs990307718
5 NR2E3 p.Glu121Lys VAR_010027 rs146403122
6 NR2E3 p.Trp234Ser VAR_010031
7 NR2E3 p.Arg309Gly VAR_010033
8 NR2E3 p.Arg311Gln VAR_010034 rs28937873
9 NR2E3 p.Arg385Pro VAR_010035 rs766769900
10 NR2E3 p.Met407Lys VAR_010036
11 NR2E3 p.Gly88Val VAR_020839
12 NR2E3 p.Ala256Glu VAR_020840 rs377257254
13 NR2E3 p.Leu263Pro VAR_020841
14 NR2E3 p.Leu336Pro VAR_020842 rs752883545
15 NR2E3 p.Leu353Val VAR_020843

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
2 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh38 Chromosome 15, 71811590: 71811590
3 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh37 Chromosome 15, 72103931: 72103931
4 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh38 Chromosome 15, 71811591: 71811591
5 NR2E3 NM_014249.3: c.200_208delGCAGCGGCT deletion Pathogenic
6 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
7 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh38 Chromosome 15, 71813573: 71813573
8 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh37 Chromosome 15, 72106453: 72106453
9 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh38 Chromosome 15, 71814112: 71814112
10 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh37 Chromosome 15, 72103957: 72103957
11 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh38 Chromosome 15, 71811617: 71811617
12 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh38 Chromosome 15, 71811966: 71811966
13 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh37 Chromosome 15, 72104306: 72104306
14 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh38 Chromosome 15, 71811969: 71811969
15 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh37 Chromosome 15, 72104309: 72104309
16 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh37 Chromosome 15, 72104364: 72104364
17 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh38 Chromosome 15, 71812024: 71812024
18 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh37 Chromosome 15, 72104433: 72104433
19 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh38 Chromosome 15, 71812093: 71812093
20 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
21 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
22 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh38 Chromosome 15, 71812110: 71812110
23 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh37 Chromosome 15, 72104450: 72104450
24 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh38 Chromosome 15, 71812458: 71812458
25 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh37 Chromosome 15, 72104798: 72104798
26 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh38 Chromosome 15, 71811784: 71811784
27 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh37 Chromosome 15, 72104124: 72104124
28 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh38 Chromosome 15, 71812015: 71812015
29 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh37 Chromosome 15, 72104355: 72104355
30 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh38 Chromosome 15, 71812176: 71812176
31 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh37 Chromosome 15, 72104516: 72104516
32 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh38 Chromosome 15, 71812323: 71812323
33 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh37 Chromosome 15, 72104663: 72104663
34 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh38 Chromosome 15, 71813479: 71813479
35 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh37 Chromosome 15, 72105819: 72105819
36 NR2E3 NM_014249.3(NR2E3): c.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 GRCh38 Chromosome 15, 71813541: 71813541
37 NR2E3 NM_014249.3(NR2E3): c.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 GRCh37 Chromosome 15, 72105881: 72105881
38 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh38 Chromosome 15, 71817881: 71817881
39 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh37 Chromosome 15, 72110222: 72110222
40 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh38 Chromosome 15, 71817915: 71817915
41 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh37 Chromosome 15, 72110256: 72110256
42 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh38 Chromosome 15, 71818024: 71818024
43 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh37 Chromosome 15, 72110365: 72110365
44 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh38 Chromosome 15, 71818238: 71818238
45 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh37 Chromosome 15, 72110579: 72110579
46 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh38 Chromosome 15, 71810605: 71810605
47 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh37 Chromosome 15, 72102945: 72102945
48 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh38 Chromosome 15, 71810697: 71810697
49 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh37 Chromosome 15, 72103037: 72103037
50 NR2E3 NM_014249.3(NR2E3): c.119-8C> T single nucleotide variant Uncertain significance rs373874970 GRCh38 Chromosome 15, 71811475: 71811475

Expression for Enhanced S-Cone Syndrome

Search GEO for disease gene expression data for Enhanced S-Cone Syndrome.

Pathways for Enhanced S-Cone Syndrome

Pathways related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.32 CNGA3 GRK1 RGS9BP
2
Show member pathways
10.75 NR1D1 NR2E3 THRB

GO Terms for Enhanced S-Cone Syndrome

Cellular components related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 NR1D1 THRB

Biological processes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.89 CRX NR1D1 NR2E3 NRL THRB
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 CRX NR1D1 NR2E3 NRL THRB
3 transcription, DNA-templated GO:0006351 9.65 NR1D1 NR2E3 THRB
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.58 NR1D1 NR2E3 THRB
5 hormone-mediated signaling pathway GO:0009755 9.51 NR1D1 THRB
6 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1D1 NR2E3 THRB
7 response to stimulus GO:0050896 9.5 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 AIPL1 GRK1
9 response to lipid GO:0033993 9.43 NR1D1 THRB
10 intracellular receptor signaling pathway GO:0030522 9.43 NR1D1 NR2E3 THRB
11 visual perception GO:0007601 9.17 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
12 positive regulation of rhodopsin gene expression GO:0045872 9.16 NR2E3 NRL

Molecular functions related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 CRX NR1D1 NR2E3 NRL THRB
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 CRX NR1D1 NR2E3 NRL
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.58 CRX NR2E3 NRL
4 sequence-specific DNA binding GO:0043565 9.55 CRX NR1D1 NR2E3 NRL THRB
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.46 NR1D1 THRB
6 nuclear receptor transcription coactivator activity GO:0030374 9.43 NR1D1 THRB
7 leucine zipper domain binding GO:0043522 9.26 CRX NRL
8 steroid hormone receptor activity GO:0003707 9.13 NR1D1 NR2E3 THRB
9 nuclear receptor activity GO:0004879 8.8 NR1D1 NR2E3 THRB

Sources for Enhanced S-Cone Syndrome

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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