ESCS
MCID: ENH001
MIFTS: 49

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 58 12 60 38 30 13 56 6 45 15 74
Goldmann-Favre Syndrome 60 74
Escs 58 76
Retinoschisis with Early Nyctalopia 60
S-Cone Syndrome, Enhanced 41
Enhanced S Cone Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0090059
OMIM 58 268100
KEGG 38 H02075
MeSH 45 C564835
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0339541 C1849394
Orphanet 60 ORPHA53540

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 76 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 Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Interferon-gamma and interferons have been mentioned in the context of this disorder. Affiliated tissues include eye, 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 94)
# Related Disease Score Top Affiliating Genes
1 goldmann-favre syndrome 33.8 NR2E3 NRL
2 retinal degeneration 29.2 AIPL1 CRX NR2E3 NRL RPE65
3 leber congenital amaurosis 4 29.0 AIPL1 CRX RPE65
4 leber congenital amaurosis 28.2 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
5 retinitis pigmentosa 27.8 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
6 esterase c 11.8
7 rere-related disorders 10.8
8 atrial fibrillation 10.7
9 heart disease 10.6
10 myocardial infarction 10.6
11 arteries, anomalies of 10.5
12 coronary artery anomaly 10.5
13 acute myocardial infarction 10.4
14 thrombosis 10.4
15 cardiac conduction defect 10.4
16 cytophagic histiocytic panniculitis 10.4
17 refractory anemia 10.4
18 pulmonary hypertension 10.3
19 peripheral artery disease 10.3
20 vasoproliferative tumor of the retina 10.3
21 infective endocarditis 10.2
22 endocarditis 10.2
23 pulmonary embolism 10.2
24 hypertrophic cardiomyopathy 10.2
25 syncope 10.2
26 congestive heart failure 10.2
27 aortic disease 10.2
28 color vision deficiency 10.1 CNGA3 NR2E3
29 cone-rod dystrophy 8 10.1 CNGA3 CRX
30 atrial standstill 1 10.1
31 coronary heart disease 1 10.1
32 ichthyosis prematurity syndrome 10.1
33 measles 10.1
34 cone-rod dystrophy 9 10.0 CNGA3 CRX
35 atherosclerosis susceptibility 10.0
36 cardiac arrhythmia 10.0
37 endometriosis 10.0
38 lipid metabolism disorder 10.0
39 distal trisomy 11q 10.0
40 retinitis pigmentosa 27 10.0
41 hepatocellular carcinoma 9.9
42 multiple sclerosis 9.9
43 esophageal cancer 9.9
44 huntington disease 9.9
45 renal cell carcinoma, nonpapillary 9.9
46 migraine with or without aura 1 9.9
47 pulmonary hypertension, primary, 1 9.9
48 dilated cardiomyopathy 9.9
49 depression 9.9
50 headache 9.9

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

Human phenotypes related to Enhanced S-Cone Syndrome:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 edema 33 HP:0000969
3 nyctalopia 33 HP:0000662
4 retinoschisis 33 HP:0030502
5 pigmentary retinopathy 33 HP:0000580
6 hemeralopia 33 HP:0012047
7 macular edema 33 HP:0040049
8 vitreoretinopathy 33 HP:0007773
9 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
retinoschisis
vitreoretinal degeneration
hemeralopia
macular edema
more

Clinical features from OMIM:

268100

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

27 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 CNGA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 CNGA3 CRX NRL THRB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.78 NRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.78 CRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.78 THRB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 NRL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.78 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.78 THRB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.78 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 THRB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.78 NRL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 CNGA3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.78 NRL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 NRL THRB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.78 NRL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.78 CRX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.78 NRL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.78 THRB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.78 THRB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.78 CRX
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 CRX

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AIPL1 CNGA3 CRX GRK1 NR1D1 NR2E3
2 vision/eye MP:0005391 9.32 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 Interferon-gamma Phase 1, Phase 2
2 interferons Phase 1, Phase 2
3 Antiviral Agents Phase 1, Phase 2
4 Anti-Infective 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 30 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

42
Eye

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 59)
# Title Authors Year
1
Enhanced S-cone syndrome: Clinical spectrum in Indian population. ( 30900587 )
2019
2
A FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. ( 29947801 )
2018
3
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. ( 29518905 )
2018
4
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. ( 29385733 )
2018
5
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. ( 29971438 )
2018
6
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. ( 30285900 )
2018
7
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant. ( 30466340 )
2018
8
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome). ( 30578501 )
2018
9
A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab. ( 30687072 )
2018
10
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME. ( 28541266 )
2017
11
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. ( 26803827 )
2016
12
A new mutation in enhanced S-cone syndrome. ( 27573156 )
2016
13
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. ( 27424008 )
2016
14
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. ( 27033713 )
2016
15
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. ( 26878455 )
2016
16
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. ( 27522502 )
2016
17
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. ( 27732723 )
2016
18
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. ( 26154701 )
2015
19
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. ( 25663266 )
2015
20
Enhanced S-Cone Syndrome and Macular Hole. ( 26067693 )
2015
21
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. ( 25423642 )
2014
22
Clinical and molecular characterization of enhanced S-cone syndrome in children. ( 25079116 )
2014
23
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. ( 24425859 )
2014
24
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. ( 23292616 )
2013
25
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. ( 23650562 )
2013
26
Novel mutations in enhanced S-cone syndrome. ( 23374571 )
2013
27
Expanded clinical spectrum of enhanced S-cone syndrome. ( 23989059 )
2013
28
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. ( 22711506 )
2012
29
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. ( 21659555 )
2011
30
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. ( 21364904 )
2011
31
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. ( 20725840 )
2011
32
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. ( 20171741 )
2010
33
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. ( 20842519 )
2010
34
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. ( 25391052 )
2009
35
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. ( 18835469 )
2009
36
The enhanced S-cone syndrome in children. ( 21686439 )
2009
37
Long-term follow-up in enhanced s-cone syndrome. ( 25391051 )
2009
38
Phenotypic variation in enhanced S-cone syndrome. ( 18436841 )
2008
39
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance. ( 18227217 )
2008
40
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. ( 17601449 )
2007
41
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
42
The enhanced S-cone syndrome in children. ( 17322467 )
2007
43
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). ( 17109156 )
2006
44
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. ( 16167297 )
2005
45
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. ( 16225923 )
2005
46
A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. ( 16110338 )
2005
47
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). ( 15453866 )
2004
48
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. ( 15459973 )
2004
49
Ocular fundus images by scanning laser ophthalmoscopy in a patient with enhanced S-cone syndrome. ( 15579994 )
2004
50
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ( 12963616 )
2003

Variations for Enhanced S-Cone Syndrome

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

76 (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 rs148914970
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 rs774102273
8 NR2E3 p.Arg311Gln VAR_010034 rs28937873
9 NR2E3 p.Arg385Pro VAR_010035 rs766769900
10 NR2E3 p.Met407Lys VAR_010036 rs130361310
11 NR2E3 p.Gly88Val VAR_020839 rs127813791
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 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh37 Chromosome 15, 72104364: 72104364
2 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh38 Chromosome 15, 71812024: 71812024
3 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh37 Chromosome 15, 72104433: 72104433
4 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh38 Chromosome 15, 71812093: 71812093
5 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
6 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
7 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
8 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh38 Chromosome 15, 71811590: 71811590
9 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh37 Chromosome 15, 72103931: 72103931
10 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh38 Chromosome 15, 71811591: 71811591
11 NR2E3 NM_016346.3(NR2E3): c.200_208del (p.Cys67_Gly69del) deletion Pathogenic GRCh37 Chromosome 15, 72103904: 72103912
12 NR2E3 NM_016346.3(NR2E3): c.200_208del (p.Cys67_Gly69del) deletion Pathogenic GRCh38 Chromosome 15, 71811564: 71811572
13 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
14 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh38 Chromosome 15, 71813573: 71813573
15 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh37 Chromosome 15, 72106453: 72106453
16 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh38 Chromosome 15, 71814112: 71814112
17 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh37 Chromosome 15, 72103957: 72103957
18 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh38 Chromosome 15, 71811617: 71811617
19 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh38 Chromosome 15, 71811966: 71811966
20 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh37 Chromosome 15, 72104306: 72104306
21 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh38 Chromosome 15, 71811969: 71811969
22 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh37 Chromosome 15, 72104309: 72104309
23 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh38 Chromosome 15, 71812110: 71812110
24 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh37 Chromosome 15, 72104450: 72104450
25 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh38 Chromosome 15, 71812458: 71812458
26 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh37 Chromosome 15, 72104798: 72104798
27 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh38 Chromosome 15, 71811784: 71811784
28 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh37 Chromosome 15, 72104124: 72104124
29 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh38 Chromosome 15, 71812015: 71812015
30 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh37 Chromosome 15, 72104355: 72104355
31 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh38 Chromosome 15, 71812176: 71812176
32 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh37 Chromosome 15, 72104516: 72104516
33 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh38 Chromosome 15, 71812323: 71812323
34 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh37 Chromosome 15, 72104663: 72104663
35 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh38 Chromosome 15, 71813479: 71813479
36 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh37 Chromosome 15, 72105819: 72105819
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.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 GRCh38 Chromosome 15, 71813541: 71813541
39 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh38 Chromosome 15, 71817881: 71817881
40 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh37 Chromosome 15, 72110222: 72110222
41 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh38 Chromosome 15, 71817915: 71817915
42 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh37 Chromosome 15, 72110256: 72110256
43 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh38 Chromosome 15, 71818024: 71818024
44 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh37 Chromosome 15, 72110365: 72110365
45 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh38 Chromosome 15, 71818238: 71818238
46 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh37 Chromosome 15, 72110579: 72110579
47 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh38 Chromosome 15, 71810605: 71810605
48 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh37 Chromosome 15, 72102945: 72102945
49 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh38 Chromosome 15, 71810697: 71810697
50 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh37 Chromosome 15, 72103037: 72103037

Expression for Enhanced S-Cone Syndrome

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

Pathways for Enhanced S-Cone Syndrome

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 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.95 CRX NR1D1 NR2E3 NRL THRB
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 CRX NR1D1 NR2E3 NRL THRB
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 NR1D1 NR2E3 THRB
4 circadian rhythm GO:0007623 9.58 CRX NR1D1 RPE65
5 retina development in camera-type eye GO:0060041 9.57 NR2E3 RPE65
6 hormone-mediated signaling pathway GO:0009755 9.56 NR1D1 THRB
7 response to stimulus GO:0050896 9.56 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
8 retina homeostasis GO:0001895 9.54 AIPL1 RPE65
9 steroid hormone mediated signaling pathway GO:0043401 9.54 NR1D1 NR2E3 THRB
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.51 AIPL1 GRK1
11 intracellular receptor signaling pathway GO:0030522 9.5 NR1D1 NR2E3 THRB
12 response to lipid GO:0033993 9.49 NR1D1 THRB
13 detection of light stimulus involved in visual perception GO:0050908 9.43 RGS9BP RPE65
14 positive regulation of rhodopsin gene expression GO:0045872 9.26 NR2E3 NRL
15 visual perception GO:0007601 9.23 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
16 transcription, DNA-templated GO:0006351 9.22 THRB
17 regulation of rhodopsin gene expression GO:0007468 9.16 NRL RPE65

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 sequence-specific DNA binding GO:0043565 9.55 CRX NR1D1 NR2E3 NRL THRB
4 nuclear receptor transcription coactivator activity GO:0030374 9.4 NR1D1 THRB
5 leucine zipper domain binding GO:0043522 9.26 CRX NRL
6 steroid hormone receptor activity GO:0003707 9.13 NR1D1 NR2E3 THRB
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....