ESCS
MCID: ENH001
MIFTS: 56

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 56 12 52 58 36 29 13 54 6 43 15 71
Goldmann-Favre Syndrome 52 58 36 29 6 71
Escs 56 73
Retinoschisis with Early Hemeralopia 52
Favre Hyaloideoretinal Degeneration 52
Retinoschisis with Early Nyctalopia 58
S-Cone Syndrome, Enhanced 39
Enhanced S Cone Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0090059
OMIM 56 268100
MeSH 43 C564835
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339541 C1849394
Orphanet 58 ORPHA53540
UMLS 71 C0339541 C1849394

Summaries for Enhanced S-Cone Syndrome

NIH Rare Diseases : 52 Goldmann-Favre syndrome , also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina ). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion. Treatment may include laser photocoagulation and medication, such as acetazolamide , dorzolamide and cyclosporin A .

MalaCards based summary : Enhanced S-Cone Syndrome, also known as goldmann-favre syndrome, is related to yemenite deaf-blind hypopigmentation syndrome and retinitis. 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 Nuclear Receptor transcription pathway. The drugs Antiviral Agents and interferons have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and heart, and related phenotypes are cataract and nyctalopia

Disease Ontology : 12 A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.

KEGG : 36 Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.

UniProtKB/Swiss-Prot : 73 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.

More information 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 347)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.7 RPGR RPE65 RHO AIPL1
2 retinitis 30.6 RPGR RPE65 RHO NRL
3 retinitis pigmentosa 37 30.6 NR2E3 NR2E1
4 inherited retinal disorder 30.5 RPGR RPE65 NR2E3
5 oguchi disease 30.3 RHO GRK1 GNAT1
6 oguchi disease 1 30.2 RGS9BP GRK7 GRK1 ARR3
7 night blindness 30.1 RPGR RPE65 RHO NRL NR2E3 GRK1
8 retinoschisis 1, x-linked, juvenile 29.8 RPGR RPE65 RHO NR2E3 CRX CNGA3
9 pathologic nystagmus 29.3 TULP1 RPE65 RHO CRX CNGA3 AIPL1
10 macular degeneration, age-related, 1 28.7 RPGR RPE65 RHO OTX2 NRL NR2E3
11 eye disease 28.0 TULP1 RPGR RPE65 ROM1 RHO OTX2
12 retinal degeneration 27.9 TULP1 RPGR RPE65 RORB ROM1 RHO
13 retinal disease 27.8 TULP1 RPGR RPE65 ROM1 RHO NRL
14 leber congenital amaurosis 27.0 TULP1 RPGR RPE65 ROM1 RHO RGS9BP
15 fundus dystrophy 26.9 TULP1 RPGR RPE65 ROM1 RHO RGS9BP
16 retinitis pigmentosa 26.4 TULP1 RPGR RPE65 RORB ROM1 RHO
17 vitreoretinal degeneration 11.5
18 esterase c 11.4
19 heart disease 10.7
20 congestive heart failure 10.6
21 atrial fibrillation 10.6
22 heart valve disease 10.5
23 color vision deficiency 10.5 NR2E3 CNGA3
24 digenic disease 10.5 NRL CRX
25 cardiac conduction defect 10.5
26 arteries, anomalies of 10.5
27 hyperlipoproteinemia, type iii 10.5
28 coronary artery anomaly 10.5
29 peripheral artery disease 10.5
30 pulmonary hypertension 10.4
31 acute myocardial infarction 10.4
32 pulmonary embolism 10.4
33 infective endocarditis 10.4
34 endocarditis 10.4
35 ischemia 10.4
36 butterfly-shaped pigment dystrophy 10.4 ROM1 OTX2
37 retinitis pigmentosa 34 10.4 RPGR CRX
38 myocardial infarction 10.4
39 achromatopsia 2 10.4 NR2E3 CNGA3
40 syncope 10.3
41 hypertrophic cardiomyopathy 10.3
42 cone-rod dystrophy 8 10.3 CNGA3 AIPL1
43 autosomal dominant congenital stationary night blindness 10.3 RHO GNAT1
44 atrial standstill 1 10.3
45 coronary heart disease 1 10.3
46 retinoschisis of fovea 10.3
47 hereditary retinal dystrophy 10.3
48 vasoproliferative tumor of the retina 10.3
49 neuroretinitis 10.3
50 aortic disease 10.3

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 nyctalopia 31 HP:0000662
3 edema 31 HP:0000969
4 retinoschisis 31 HP:0030502
5 pigmentary retinopathy 31 HP:0000580
6 hemeralopia 31 HP:0012047
7 macular edema 31 HP:0040049
8 vitreoretinopathy 31 HP:0007773
9 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
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:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.16 GRK1 RPGR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.16 OTX2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.16 GNAT1 GRK1 GRK7 OTX2 RPGR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.16 OTX2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.16 GRK1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.16 GRK1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.16 GNAT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.16 GRK7 OTX2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.16 GNAT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.16 GNAT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.16 GNAT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 10.16 GNAT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.16 GRK7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.16 RPGR
15 Decreased viability GR00221-A-1 10.07 GRK1
16 Decreased viability GR00240-S-1 10.07 DHX30 RGS9BP
17 Decreased viability GR00301-A 10.07 GRK1
18 Decreased viability GR00342-S-1 10.07 GRK1
19 Decreased viability GR00342-S-2 10.07 GRK1
20 Decreased viability GR00402-S-2 10.07 AIPL1 ARR3 CNGA3 CRX DHX30 GNAT1
21 no effect GR00402-S-1 9.62 AIPL1 ARR3 CNGA3 CRX DHX30 GNAT1

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 AIPL1 CNGA3 CRX DHX30 GNAT1 GRK1
2 cardiovascular system MP:0005385 9.96 ARR3 CNGA3 CRX NR1D1 NR2E1 OTX2
3 vision/eye MP:0005391 9.58 AIPL1 ARR3 CNGA3 CRX GNAT1 GRK1
4 pigmentation MP:0001186 9.56 CRX GNAT1 NRL OTX2 RHO RPE65

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 Antiviral Agents Phase 1, Phase 2
2 interferons Phase 1, Phase 2
3 Anti-Infective Agents Phase 1, Phase 2
4 Interferon-gamma Phase 1, Phase 2
5
Adenosine Approved, Investigational 58-61-7 60961

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Phase I/II Study of the Evaluation of 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 Proliferation of Endometrial Stromal Cells in Adenomyosis Unknown status NCT00173212
3 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
4 Evaluation of Social ABCs With Attention Training Intervention for Toddlers With Autism Recruiting NCT03215394
5 Determination of Exercise Behavior in Patients With Juvenile Idiopathic Arthritis Active, not recruiting NCT03731520
6 Evaluating BOSCC and ELSA as Outcome Measures in the Context of a JASPER Intervention Trial Not yet recruiting NCT04146428
7 Personalized, Responsive Intervention Sequences for Minimally Verbal Children With Autism Not yet recruiting NCT03883139

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
2 Goldmann-Favre Syndrome 29

Anatomical Context for Enhanced S-Cone Syndrome

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

40
Eye, Retina, Heart, Lung, Kidney, T Cells, Testes

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 137)
# Title Authors PMID Year
1
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 61 56 6
10655056 2000
2
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 56 6
18294254 2008
3
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 56 6
11071390 2000
4
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. 61 56
12601058 2003
5
Giving in to the blues. 61 56
10655045 2000
6
Enhanced S cone syndrome: evidence for an abnormally large number of S cones. 61 56
7645276 1995
7
Relatively enhanced S cone function in the Goldmann-Favre syndrome. 61 56
2012146 1991
8
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. 61 52
26803827 2016
9
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. 61 52
25663266 2015
10
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 56
15229190 2004
11
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. 56
10805811 2000
12
Identification of a photoreceptor cell-specific nuclear receptor. 56
10220376 1999
13
SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. 56
2335450 1990
14
[Goldmann-Favre vitreo-tapeto-retinal degeneration]. 56
4546336 1974
15
Hereditary retinoschisis and early hemeralopia. A report of two cases. 56
5309737 1970
16
[Two cases of hyaloid-retinal degeneration]. 56
13553271 1958
17
Treatment of cystic macular lesions in hereditary retinal dystrophies. 52
24160730 2013
18
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. 54 61
19933183 2010
19
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 54 61
19898638 2009
20
Phenotypic features of patients with NR2E3 mutations. 54 61
19139342 2009
21
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. 54 61
17601449 2007
22
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. 54 61
17438525 2007
23
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 54 61
16225923 2005
24
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 54 61
15689355 2005
25
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). 54 61
15453866 2004
26
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 54 61
12552256 2003
27
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 54 61
12187427 2002
28
Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis. 61
31292819 2019
29
ISCEV extended protocol for the S-cone ERG. 61
31749034 2019
30
Bilateral giant macular schisis in a case of Goldmann-Favre syndrome. 61
31558488 2019
31
ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY. 61
31306293 2019
32
MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME. 61
31356371 2019
33
Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish. 61
30684641 2019
34
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials. 61
31117170 2019
35
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. 61
30959774 2019
36
Enhanced S-cone syndrome: Clinical spectrum in Indian population. 61
30900587 2019
37
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant. 61
30466340 2019
38
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. 61
30614359 2019
39
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME. 61
28541266 2019
40
[Multimodal imaging in Goldmann-Favre syndrome]. 61
29234872 2018
41
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. 61
30285900 2018
42
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. 61
29947801 2018
43
A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab. 61
30687072 2018
44
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. 61
29971438 2018
45
A new mutation in enhanced S-cone syndrome. 61
27573156 2018
46
Human S-cone electroretinograms obtained by silent substitution stimulation. 61
29603933 2018
47
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. 61
29518905 2018
48
Goldmann-Favre Syndrome: Case Series. 61
29576899 2018
49
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. 61
29385733 2018
50
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome). 61
30578501 2018

Variations for Enhanced S-Cone Syndrome

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6 (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR2E3 NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)SNV Pathogenic 5529 rs104894492 15:72103930-72103930 15:71811590-71811590
2 NR2E3 NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del)deletion Pathogenic 5531 rs1567159701 15:72103899-72103907 15:71811559-71811567
3 NRL NM_006177.5(NRL):c.91C>T (p.Arg31Ter)SNV Pathogenic 369652 rs762991211 14:24551967-24551967 14:24082758-24082758
4 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)SNV Pathogenic/Likely pathogenic 5532 rs28937873 15:72105913-72105913 15:71813573-71813573
5 NR2E3 NM_014249.4(NR2E3):c.119-2A>CSNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481
6 NR2E3 NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)deletion Likely pathogenic 551852 rs1555454566 15:72103893-72103901 15:71811553-71811561
7 NR2E3 NM_014249.4(NR2E3):c.1101-10T>CSNV Conflicting interpretations of pathogenicity 558406 rs763647845 15:72109883-72109883 15:71817542-71817542
8 NR2E3 NM_014249.4(NR2E3):c.505C>T (p.Leu169=)SNV Conflicting interpretations of pathogenicity 260367 rs1805022 15:72104450-72104450 15:71812110-71812110
9 NR2E3 NM_014249.4(NR2E3):c.264G>T (p.Gly88=)SNV Conflicting interpretations of pathogenicity 317007 rs558123422 15:72104124-72104124 15:71811784-71811784
10 NR2E3 NM_014249.4(NR2E3):c.900G>A (p.Thr300=)SNV Conflicting interpretations of pathogenicity 317020 rs184906734 15:72105881-72105881 15:71813541-71813541
11 NR2E3 NM_014249.4(NR2E3):c.245+9G>ASNV Conflicting interpretations of pathogenicity 317006 rs538864090 15:72103958-72103958 15:71811618-71811618
12 NR2E3 NM_014249.4(NR2E3):c.349+8G>ASNV Conflicting interpretations of pathogenicity 317011 rs112520386 15:72104217-72104217 15:71811877-71811877
13 NR2E3 NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)SNV Uncertain significance 317015 rs371853056 15:72104400-72104400 15:71812060-71812060
14 NR2E3 NM_014249.4(NR2E3):c.*144A>TSNV Uncertain significance 317022 rs886051454 15:72110169-72110169 15:71817828-71817828
15 NR2E3 NM_014249.4(NR2E3):c.*563_*566deldeletion Uncertain significance 317030 rs531918877 15:72110584-72110587 15:71818243-71818246
16 NR2E3 NM_014249.4(NR2E3):c.349+12dupduplication Uncertain significance 317010 rs886051451 15:72104216-72104217 15:71811876-71811877
17 NR2E3 NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg)SNV Uncertain significance 317012 rs886051452 15:72104347-72104347 15:71812007-71812007
18 NR2E3 NM_014249.4(NR2E3):c.444T>C (p.Ala148=)SNV Uncertain significance 317014 rs533192044 15:72104389-72104389 15:71812049-71812049
19 NR2E3 NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)SNV Uncertain significance 317018 rs759765652 15:72104770-72104770 15:71812430-71812430
20 NR2E3 NM_014249.4(NR2E3):c.*275A>CSNV Uncertain significance 317025 rs886051455 15:72110300-72110300 15:71817959-71817959
21 NR2E3 NM_014249.4(NR2E3):c.*558C>ASNV Uncertain significance 317029 rs886051459 15:72110583-72110583 15:71818242-71818242
22 NR2E3 NM_014249.4(NR2E3):c.*197T>GSNV Uncertain significance 317023 rs779157022 15:72110222-72110222 15:71817881-71817881
23 NR2E3 NM_014249.4(NR2E3):c.*231A>GSNV Uncertain significance 317024 rs185349250 15:72110256-72110256 15:71817915-71817915
24 NR2E3 NM_014249.4(NR2E3):c.*340G>CSNV Uncertain significance 317026 rs886051456 15:72110365-72110365 15:71818024-71818024
25 NR2E3 NM_014249.4(NR2E3):c.*554A>CSNV Uncertain significance 317028 rs886051458 15:72110579-72110579 15:71818238-71818238
26 NR2E3 NM_014249.4(NR2E3):c.-139G>TSNV Uncertain significance 317002 rs138513681 15:72102945-72102945 15:71810605-71810605
27 NR2E3 NM_014249.4(NR2E3):c.-47C>TSNV Uncertain significance 317003 rs886051449 15:72103037-72103037 15:71810697-71810697
28 NR2E3 NM_014249.4(NR2E3):c.119-8C>TSNV Uncertain significance 317004 rs373874970 15:72103815-72103815 15:71811475-71811475
29 NR2E3 NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)SNV Uncertain significance 317005 rs767304567 15:72103926-72103926 15:71811586-71811586
30 NR2E3 NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)SNV Uncertain significance 317013 rs767828150 15:72104355-72104355 15:71812015-71812015
31 NR2E3 NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)SNV Uncertain significance 317016 rs779518180 15:72104516-72104516 15:71812176-71812176
32 NR2E3 NM_014249.4(NR2E3):c.572-13C>TSNV Uncertain significance 317017 rs376114936 15:72104663-72104663 15:71812323-71812323
33 NR2E3 NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala)SNV Uncertain significance 317019 rs769154628 15:72105819-72105819 15:71813479-71813479
34 NR2E3 NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)SNV Uncertain significance 143147 rs527236086 15:72104309-72104309 15:71811969-71811969
35 NR2E3 NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)SNV Uncertain significance 5530 rs104894493 15:72103931-72103931 15:71811591-71811591
36 NR2E3 NM_014249.4(NR2E3):c.-10C>TSNV Uncertain significance 550918 rs771015928 15:72103074-72103074 15:71810734-71810734
37 NR2E3 NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)SNV Uncertain significance 558411 rs563014885 15:72103874-72103874 15:71811534-71811534
38 NR2E3 NM_014249.4(NR2E3):c.119-6C>TSNV Uncertain significance 556393 rs745910334 15:72103817-72103817 15:71811477-71811477
39 NR2E3 NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg)SNV Uncertain significance 551741 rs777512062 15:72106420-72106420 15:71814079-71814079
40 NR2E3 NM_014249.4(NR2E3):c.677G>A (p.Arg226His)SNV Uncertain significance 554361 rs544290323 15:72104781-72104781 15:71812441-71812441
41 NR2E3 NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)SNV Uncertain significance 552868 rs199564404 15:72109987-72109987 15:71817646-71817646
42 NR2E3 NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)SNV Uncertain significance 554716 rs567617489 15:72104469-72104469 15:71812129-71812129
43 NR2E3 NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)SNV Uncertain significance 558336 rs374016332 15:72105880-72105880 15:71813540-71813540
44 NR2E3 NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)SNV Uncertain significance 551766 rs554638593 15:72106356-72106356 15:71814015-71814015
45 NR2E3 NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)SNV Uncertain significance 552825 rs1261697277 15:72104399-72104399 15:71812059-71812059
46 NR2E3 NM_014249.4(NR2E3):c.-139G>ASNV Uncertain significance 317001 rs138513681 15:72102945-72102945 15:71810605-71810605
47 NR2E3 NM_014249.4(NR2E3):c.321G>A (p.Lys107=)SNV Uncertain significance 317008 rs886051450 15:72104181-72104181 15:71811841-71811841
48 NR2E3 NM_014249.4(NR2E3):c.332C>T (p.Ala111Val)SNV Uncertain significance 317009 rs759381786 15:72104192-72104192 15:71811852-71811852
49 NR2E3 NM_014249.4(NR2E3):c.*101T>CSNV Uncertain significance 317021 rs886051453 15:72110126-72110126 15:71817785-71817785
50 NR2E3 NM_014249.4(NR2E3):c.*453G>TSNV Uncertain significance 317027 rs886051457 15:72110478-72110478 15:71818137-71818137

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

73 (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

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 cell projection GO:0042995 9.87 TULP1 RPGR RHO NR1D1 GRK1 GNAT1
2 nuclear chromatin GO:0000790 9.85 RORB OTX2 NRL NR2E1 NR1D1 CRX
3 photoreceptor disc membrane GO:0097381 9.46 RHO GRK7 GRK1 GNAT1
4 photoreceptor outer segment membrane GO:0042622 9.43 ROM1 RHO GNAT1
5 photoreceptor inner segment GO:0001917 9.35 TULP1 RHO GNAT1 ARR3 AIPL1
6 photoreceptor outer segment GO:0001750 9.17 TULP1 RPGR RHO RGS9BP GRK1 GNAT1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.14 RORB OTX2 NRL NR2E3 NR2E1 NR1D1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 RORB OTX2 NRL NR2E3 NR2E1 NR1D1
3 multicellular organism development GO:0007275 10.08 RORB OTX2 NRL NR2E1 NR1D1 CRX
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.86 RORB NR2E3 NR2E1 NR1D1
5 response to stimulus GO:0050896 9.83 TULP1 RPGR RPE65 RORB RHO RGS9BP
6 steroid hormone mediated signaling pathway GO:0043401 9.76 RORB NR2E3 NR2E1 NR1D1
7 retina homeostasis GO:0001895 9.72 TULP1 RPE65 AIPL1
8 intracellular receptor signaling pathway GO:0030522 9.71 RORB NR2E3 NR1D1
9 phototransduction GO:0007602 9.7 RHO NR2E3 GNAT1
10 retina development in camera-type eye GO:0060041 9.7 TULP1 RPE65 RORB RHO NR2E3 NR2E1
11 response to light stimulus GO:0009416 9.69 RPE65 RHO GNAT1
12 detection of light stimulus involved in visual perception GO:0050908 9.67 TULP1 RPE65 RGS9BP GNAT1
13 regulation of rhodopsin mediated signaling pathway GO:0022400 9.65 RHO GRK7 GRK1 GNAT1 AIPL1
14 eye photoreceptor cell development GO:0042462 9.62 TULP1 RORB NR2E3 GNAT1
15 rhodopsin mediated signaling pathway GO:0016056 9.61 RHO GRK1 GNAT1
16 cellular response to electrical stimulus GO:0071257 9.59 RPE65 GNAT1
17 retina morphogenesis in camera-type eye GO:0060042 9.58 RPE65 ROM1
18 retinal rod cell development GO:0046548 9.58 RORB NRL
19 phototransduction, visible light GO:0007603 9.58 RHO GNAT1 AIPL1
20 visual perception GO:0007601 9.55 TULP1 RPGR RPE65 RORB ROM1 RHO
21 positive regulation of rhodopsin gene expression GO:0045872 9.49 NRL NR2E3
22 regulation of rhodopsin gene expression GO:0007468 9.48 RPE65 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, RNA polymerase II-specific GO:0000981 9.95 RORB OTX2 NRL NR2E1 NR1D1 CRX
2 DNA-binding transcription factor activity GO:0003700 9.91 RORB OTX2 NRL NR2E3 NR2E1 NR1D1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 RORB OTX2 NRL NR2E3 NR1D1 CRX
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 RORB OTX2 NRL NR2E3 NR2E1 CRX
5 nuclear receptor activity GO:0004879 9.58 RORB NR2E3 NR1D1
6 sequence-specific DNA binding GO:0043565 9.5 RORB OTX2 NRL NR2E3 NR2E1 NR1D1
7 leucine zipper domain binding GO:0043522 9.46 NRL CRX
8 G protein-coupled receptor kinase activity GO:0004703 9.43 GRK7 GRK1
9 rhodopsin kinase activity GO:0050254 9.32 GRK7 GRK1
10 steroid hormone receptor activity GO:0003707 8.92 RORB NR2E3 NR2E1 NR1D1

Sources for Enhanced S-Cone Syndrome

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
Content
Loading form....