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 57 12 59 37 29 13 55 6 44 15 72
Goldmann-Favre Syndrome 59 72
Escs 57 74
Retinoschisis with Early Nyctalopia 59
S-Cone Syndrome, Enhanced 40
Enhanced S Cone Syndrome 74

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:

Disease Ontology 12 DOID:0090059
OMIM 57 268100
KEGG 37 H02075
MeSH 44 C564835
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C0339541 C1849394
Orphanet 59 ORPHA53540
UMLS 72 C0339541 C1849394

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 74 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 night blindness. 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 interferons and Interferon-gamma have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone and spinal cord, and related phenotypes are cataract and edema

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 : 37
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.

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 282)
# Related Disease Score Top Affiliating Genes
1 goldmann-favre syndrome 34.3 NRL NR2E3
2 night blindness 30.8 RPE65 GRK1
3 retinoschisis 1, x-linked, juvenile 30.4 RPE65 CRX
4 yemenite deaf-blind hypopigmentation syndrome 30.0 RPE65 AIPL1
5 retinal degeneration 29.0 RPE65 NRL NR2E3 CRX AIPL1
6 retinal disease 28.6 RPE65 NRL CRX AIPL1
7 fundus dystrophy 27.8 RPE65 NR2E3 GRK1 CRX CNGA3 AIPL1
8 retinitis pigmentosa 27.4 RPE65 NRL NR2E3 GRK1 CRX CNGA3
9 leber congenital amaurosis 27.0 RPE65 NRL NR2E3 GRK1 CRX CNGA3
10 vitreoretinal degeneration 11.5
11 esterase c 11.4
12 heart disease 10.7
13 congestive heart failure 10.6
14 atrial fibrillation 10.6
15 heart valve disease 10.5
16 arteries, anomalies of 10.5
17 cardiac conduction defect 10.5
18 hyperlipoproteinemia, type iii 10.5
19 coronary artery anomaly 10.5
20 peripheral artery disease 10.5
21 acute myocardial infarction 10.5
22 pulmonary hypertension 10.4
23 infective endocarditis 10.4
24 endocarditis 10.4
25 pulmonary embolism 10.4
26 ischemia 10.4
27 syncope 10.3
28 myocardial infarction 10.3
29 hypertrophic cardiomyopathy 10.3
30 retinoschisis of fovea 10.3
31 hereditary retinal dystrophy 10.3
32 vasoproliferative tumor of the retina 10.3
33 neuroretinitis 10.3
34 retinitis 10.3
35 atrial standstill 1 10.3
36 aortic disease 10.3
37 coronary heart disease 1 10.2
38 macular retinal edema 10.2
39 inherited retinal disorder 10.2
40 color vision deficiency 10.2 NR2E3 CNGA3
41 peripheral vascular disease 10.2
42 pulmonary hypertension, primary, 1 10.2
43 lipid metabolism disorder 10.2
44 progressive familial heart block, type ia 10.1
45 teratoma 10.1
46 cardiogenic shock 10.1
47 allergic hypersensitivity disease 10.1
48 cataract 10.1
49 vcan-related vitreoretinopathy 10.1
50 left bundle branch hemiblock 10.1

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
retinoschisis
vitreoretinal degeneration
hemeralopia
macular edema
more

Clinical features from OMIM:

268100

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 interferons Phase 1, Phase 2
2 Interferon-gamma Phase 1, Phase 2
3 Antiviral Agents Phase 1, Phase 2
4 Anti-Infective Agents 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 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

Anatomical Context for Enhanced S-Cone Syndrome

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

41
Endothelial, Bone, Spinal Cord, Heart, Liver, Brain, Eye

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 4697)
# Title Authors PMID Year
1
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 38 8 71
10655056 2000
2
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 8 71
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. 8 71
11071390 2000
4
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. 38 8
12601058 2003
5
Giving in to the blues. 38 8
10655045 2000
6
Enhanced S cone syndrome: evidence for an abnormally large number of S cones. 38 8
7645276 1995
7
Relatively enhanced S cone function in the Goldmann-Favre syndrome. 38 8
2012146 1991
8
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 8
15229190 2004
9
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. 8
10805811 2000
10
Identification of a photoreceptor cell-specific nuclear receptor. 8
10220376 1999
11
SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. 8
2335450 1990
12
[Goldmann-Favre vitreo-tapeto-retinal degeneration]. 8
4546336 1974
13
Hereditary retinoschisis and early hemeralopia. A report of two cases. 8
5309737 1970
14
[Two cases of hyaloid-retinal degeneration]. 8
13553271 1958
15
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. 9 38
19933183 2010
16
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 9 38
19898638 2009
17
Phenotypic features of patients with NR2E3 mutations. 9 38
19139342 2009
18
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. 9 38
17601449 2007
19
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. 9 38
17438525 2007
20
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 9 38
16225923 2005
21
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 9 38
15689355 2005
22
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). 9 38
15453866 2004
23
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 9 38
12552256 2003
24
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 9 38
12187427 2002
25
Netrin-1 plays a critical role in regulating capacities of epidermal stem cells upon ultraviolet-B (UV-B) irradiation. 38
31012327 2019
26
Pluripotency Potential of Embryonic Stem Cell-Like Cells Derived from Mouse Testis. 38
31210434 2019
27
Novel crosstalk between Vps26a and Nox4 signaling during neurogenesis. 38
30464227 2019
28
The protective effects of TGR5 against ultraviolet B irradiation in epidermal stem cells. 38
31168815 2019
29
Assessment of the carcinogenic effect of 2,3,7,8-tetrachlorodibenzo-p-dioxin using mouse embryonic stem cells to form teratoma in vivo. 38
31082521 2019
30
Analysis of Human Stem Cell Transcription Factors. 38
31298562 2019
31
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. 38
31374199 2019
32
Dynamic Enhancer DNA Methylation as Basis for Transcriptional and Cellular Heterogeneity of ESCs. 38
31422875 2019
33
Microgravity inhibits decidualization via decreasing Akt activity and FOXO3a expression in human endometrial stromal cells. 38
31431660 2019
34
Three-dimensional electrospun gelatin scaffold coseeded with embryonic stem cells and sertoli cells: A promising substrate for in vitro coculture system. 38
30977186 2019
35
Tuning FOXD3 expression dose-dependently balances human embryonic stem cells between pluripotency and meso-endoderm fates. 38
31415841 2019
36
Epidural Spinal Cord Stimulation Facilitates Immediate Restoration of Dormant Motor and Autonomic Supraspinal Pathways after Chronic Neurologically Complete Spinal Cord Injury. 38
30667299 2019
37
Prenatal toxicity of the environmental pollutants on neuronal and cardiac development derived from embryonic stem cells. 38
31425785 2019
38
Derivation of novel naive-like porcine embryonic stem cells by a reprogramming factor-assisted strategy. 38
31125263 2019
39
Embryonic stem cell microenvironment suppresses the malignancy of cutaneous melanoma cells by down-regulating PI3K/AKT pathway. 38
31173492 2019
40
Farnesoid X Receptor Agonist GW4064 Inhibits Aromatase and ERβ Expression in Human Endometriotic Stromal Cells. 38
30428773 2019
41
miR-141-3p affects apoptosis and migration of endometrial stromal cells by targeting KLF-12. 38
31129698 2019
42
hnRNP-K Targets Open Chromatin in Mouse Embryonic Stem Cells in Concert with Multiple Regulators. 38
31021473 2019
43
Intracellular Ca2+ Homeostasis and Nuclear Export Mediate Exit from Naive Pluripotency. 38
31104942 2019
44
Rinf Regulates Pluripotency Network Genes and Tet Enzymes in Embryonic Stem Cells. 38
31433977 2019
45
Genomic Integrity Safeguards Self-Renewal in Embryonic Stem Cells. 38
31390555 2019
46
Embryoid body-based RNA-seq analyses reveal a potential TBBPA multifaceted developmental toxicity. 38
31129320 2019
47
Rho Signaling-Directed YAP/TAZ Regulation Encourages 3D Spheroid Colony Formation and Boosts Plasticity of Parthenogenetic Stem Cells. 38
31376140 2019
48
Expression of Nerve Injury-Induced Protein1 (Ninj1) in Endometriosis. 38
30326781 2019
49
The RNA exosome nuclease complex regulates human embryonic stem cell differentiation. 38
31308215 2019
50
Method to Convert Stem Cells into Cancer Stem Cells. 38
31426391 2019

Variations for Enhanced S-Cone Syndrome

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NRL NM_006177.5(NRL): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs762991211 14:24551967-24551967 14:24082758-24082758
2 NR2E3 NM_014249.4(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 15:72103930-72103930 15:71811590-71811590
3 NR2E3 NM_014249.4(NR2E3): c.200_208del (p.Cys67_Gly69del) deletion Pathogenic 15:72103904-72103912 15:71811564-71811572
4 NR2E3 NM_014249.4(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs28937873 15:72105913-72105913 15:71813573-71813573
5 NR2E3 NM_014249.4(NR2E3): c.119-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs2723341 15:72103821-72103821 15:71811481-71811481
6 NR2E3 NM_014249.4(NR2E3): c.194_202del (p.Asn65_Cys67del) deletion Likely pathogenic rs1555454566 15:72103892-72103901 15:71811558-71811566
7 NR2E3 NM_014249.4(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 15:72104450-72104450 15:71812110-71812110
8 NR2E3 NM_014249.4(NR2E3): c.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 15:72105881-72105881 15:71813541-71813541
9 NR2E3 NM_014249.4(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 15:72110222-72110222 15:71817881-71817881
10 NR2E3 NM_014249.4(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 15:72110256-72110256 15:71817915-71817915
11 NR2E3 NM_014249.4(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 15:72110365-72110365 15:71818024-71818024
12 NR2E3 NM_014249.4(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 15:72110579-72110579 15:71818238-71818238
13 NR2E3 NM_014249.4(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 15:72102945-72102945 15:71810605-71810605
14 NR2E3 NM_014249.4(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 15:72103037-72103037 15:71810697-71810697
15 NR2E3 NM_014249.4(NR2E3): c.119-8C> T single nucleotide variant Uncertain significance rs373874970 15:72103815-72103815 15:71811475-71811475
16 NR2E3 NM_014249.4(NR2E3): c.222C> G (p.Ser74Arg) single nucleotide variant Uncertain significance rs767304567 15:72103926-72103926 15:71811586-71811586
17 NR2E3 NM_014249.4(NR2E3): c.245+9G> A single nucleotide variant Uncertain significance rs538864090 15:72103958-72103958 15:71811618-71811618
18 NR2E3 NM_014249.3(NR2E3): c.349+12dupG duplication Uncertain significance rs886051451 15:72104221-72104221 15:71811881-71811881
19 NR2E3 NM_014249.4(NR2E3): c.402C> A (p.Ser134Arg) single nucleotide variant Uncertain significance rs886051452 15:72104347-72104347 15:71812007-71812007
20 NR2E3 NM_014249.4(NR2E3): c.444T> C (p.Ala148=) single nucleotide variant Uncertain significance rs533192044 15:72104389-72104389 15:71812049-71812049
21 NR2E3 NM_014249.4(NR2E3): c.666G> C (p.Glu222Asp) single nucleotide variant Uncertain significance rs759765652 15:72104770-72104770 15:71812430-71812430
22 NR2E3 NM_014249.4(NR2E3): c.*275A> C single nucleotide variant Uncertain significance rs886051455 15:72110300-72110300 15:71817959-71817959
23 NR2E3 NM_014249.4(NR2E3): c.*558C> A single nucleotide variant Uncertain significance rs886051459 15:72110583-72110583 15:71818242-71818242
24 NR2E3 NM_014249.4(NR2E3): c.349+8G> A single nucleotide variant Uncertain significance rs112520386 15:72104217-72104217 15:71811877-71811877
25 NR2E3 NM_014249.4(NR2E3): c.455C> T (p.Pro152Leu) single nucleotide variant Uncertain significance rs371853056 15:72104400-72104400 15:71812060-71812060
26 NR2E3 NM_014249.4(NR2E3): c.*144A> T single nucleotide variant Uncertain significance rs886051454 15:72110169-72110169 15:71817828-71817828
27 NR2E3 NM_014249.4(NR2E3): c.*563_*566del deletion Uncertain significance rs531918877 15:72110588-72110591 15:71818247-71818250
28 NR2E3 NM_014249.4(NR2E3): c.-139G> A single nucleotide variant Uncertain significance rs138513681 15:72102945-72102945 15:71810605-71810605
29 NR2E3 NM_014249.4(NR2E3): c.321G> A (p.Lys107=) single nucleotide variant Uncertain significance rs886051450 15:72104181-72104181 15:71811841-71811841
30 NR2E3 NM_014249.4(NR2E3): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs759381786 15:72104192-72104192 15:71811852-71811852
31 NR2E3 NM_014249.4(NR2E3): c.*101T> C single nucleotide variant Uncertain significance rs886051453 15:72110126-72110126 15:71817785-71817785
32 NR2E3 NM_014249.4(NR2E3): c.*453G> T single nucleotide variant Uncertain significance rs886051457 15:72110478-72110478 15:71818137-71818137
33 NR2E3 NM_014249.4(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 15:72104309-72104309 15:71811969-71811969
34 NR2E3 NM_014249.4(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 15:72104124-72104124 15:71811784-71811784
35 NR2E3 NM_014249.4(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 15:72104355-72104355 15:71812015-71812015
36 NR2E3 NM_014249.4(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 15:72104516-72104516 15:71812176-71812176
37 NR2E3 NM_014249.4(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 15:72104663-72104663 15:71812323-71812323
38 NR2E3 NM_014249.4(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 15:72105819-72105819 15:71813479-71813479
39 NR2E3 NM_014249.4(NR2E3): c.1062C> G (p.Ser354Arg) single nucleotide variant Uncertain significance rs777512062 15:72106420-72106420 15:71814079-71814079
40 NR2E3 NM_014249.4(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 15:72103931-72103931 15:71811591-71811591
41 NR2E3 NM_014249.4(NR2E3): c.524C> G (p.Ala175Gly) single nucleotide variant Uncertain significance rs567617489 15:72104469-72104469 15:71812129-71812129
42 NR2E3 NM_014249.4(NR2E3): c.677G> A (p.Arg226His) single nucleotide variant Uncertain significance rs544290323 15:72104781-72104781 15:71812441-71812441
43 NR2E3 NM_014249.4(NR2E3): c.1195C> A (p.Pro399Thr) single nucleotide variant Uncertain significance rs199564404 15:72109987-72109987 15:71817646-71817646
44 NR2E3 NM_014249.4(NR2E3): c.454C> T (p.Pro152Ser) single nucleotide variant Uncertain significance rs1261697277 15:72104399-72104399 15:71812059-71812059
45 NR2E3 NM_014249.4(NR2E3): c.899C> T (p.Thr300Met) single nucleotide variant Uncertain significance rs374016332 15:72105880-72105880 15:71813540-71813540
46 NR2E3 NM_014249.4(NR2E3): c.998C> T (p.Thr333Met) single nucleotide variant Uncertain significance rs554638593 15:72106356-72106356 15:71814015-71814015
47 NR2E3 NM_014249.4(NR2E3): c.1101-10T> C single nucleotide variant Uncertain significance rs763647845 15:72109883-72109883 15:71817542-71817542
48 NR2E3 NM_014249.4(NR2E3): c.-10C> T single nucleotide variant Uncertain significance rs771015928 15:72103074-72103074 15:71810734-71810734
49 NR2E3 NM_014249.4(NR2E3): c.170A> G (p.Lys57Arg) single nucleotide variant Uncertain significance rs563014885 15:72103874-72103874 15:71811534-71811534
50 NR2E3 NM_014249.4(NR2E3): c.119-6C> T single nucleotide variant Uncertain significance rs745910334 15:72103817-72103817 15:71811477-71811477

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

74 (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

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 NRL NR2E3 NR1D1 CRX
2 response to stimulus GO:0050896 9.56 RPE65 RGS9BP NRL NR2E3 GRK1 CRX
3 circadian rhythm GO:0007623 9.5 RPE65 NR1D1 CRX
4 retina development in camera-type eye GO:0060041 9.49 RPE65 NR2E3
5 steroid hormone mediated signaling pathway GO:0043401 9.48 NR2E3 NR1D1
6 retina homeostasis GO:0001895 9.46 RPE65 AIPL1
7 intracellular receptor signaling pathway GO:0030522 9.43 NR2E3 NR1D1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.4 GRK1 AIPL1
9 detection of light stimulus involved in visual perception GO:0050908 9.37 RPE65 RGS9BP
10 regulation of rhodopsin gene expression GO:0007468 9.26 RPE65 NRL
11 visual perception GO:0007601 9.23 RPE65 RGS9BP NRL NR2E3 GRK1 CRX
12 positive regulation of rhodopsin gene expression GO:0045872 9.16 NRL NR2E3

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 9.67 NRL NR2E3 NR1D1 CRX
2 sequence-specific DNA binding GO:0043565 9.46 NRL NR2E3 NR1D1 CRX
3 steroid hormone receptor activity GO:0003707 9.32 NR2E3 NR1D1
4 nuclear receptor activity GO:0004879 9.26 NR2E3 NR1D1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 NRL NR2E3 NR1D1 CRX
6 leucine zipper domain binding GO:0043522 8.62 NRL CRX

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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