MCID: ENH001
MIFTS: 45

Enhanced S-Cone Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Enhanced S-Cone Syndrome

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Aliases & Descriptions for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 49 11 22 47 65
Enhanced S Cone Syndrome 67 24
 
Enhanced S Cone Dystrophy 22
Escs 67

Characteristics:

HPO:

61
enhanced s-cone syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 268100
UMLS65 C1849394

Summaries for Enhanced S-Cone Syndrome

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UniProtKB/Swiss-Prot:67 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 enhanced s cone syndrome, is related to goldmann-favre syndrome and retinitis, and has symptoms including macular edema, retinoschisis and hemeralopia. An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways are Visual Cycle in Retinal Rods and Colorectal Cancer Metastasis. Affiliated tissues include breast, smooth muscle and prostate, and related mouse phenotypes are vision/eye and nervous system.

Description from OMIM:49 268100

Related Diseases for Enhanced S-Cone Syndrome

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



Diseases related to enhanced s-cone syndrome

Symptoms for Enhanced S-Cone Syndrome

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Symptoms by clinical synopsis from OMIM:

268100

Clinical features from OMIM:

268100

HPO human phenotypes related to Enhanced S-Cone Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 macular edema HP:0040049
2 retinoschisis HP:0030502
3 hemeralopia HP:0012047
4 pigmentary retinal degeneration HP:0001146
5 nyctalopia HP:0000662
6 vitreoretinal degeneration HP:0000655
7 undetectable electroretinogram HP:0000550
8 cataract HP:0000518

Drugs & Therapeutics for Enhanced S-Cone Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 1, Phase 21930
2Interferon-gammaPhase 1, Phase 2137
3Antiviral AgentsPhase 1, Phase 28071
4Anti-Infective AgentsPhase 1, Phase 217220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)RecruitingNCT02338973Phase 1, Phase 2
2Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Enhanced S-Cone Syndrome

Genetic Tests for Enhanced S-Cone Syndrome

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Genetic tests related to Enhanced S-Cone Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome22 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

33
Breast, Smooth muscle, Prostate, Testis, Neutrophil, Endothelial, T cells

Animal Models for Enhanced S-Cone Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CNGA3, CRX, GRK1, NR2E3, NRL
2MP:00036318.0CNGA3, CRX, GRK1, NR2E3, NRL

Publications for Enhanced S-Cone Syndrome

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Articles related to Enhanced S-Cone Syndrome:

(show all 35)
idTitleAuthorsYear
1
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. (26803827)
2016
2
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. (26878455)
2016
3
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. (27033713)
2016
4
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. (26154701)
2015
5
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. (25663266)
2015
6
Enhanced S-Cone Syndrome and Macular Hole. (26067693)
2015
7
Clinical and molecular characterization of enhanced S-cone syndrome in children. (25079116)
2014
8
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. (25423642)
2014
9
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. (24425859)
2014
10
Expanded clinical spectrum of enhanced S-cone syndrome. (23989059)
2013
11
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. (23292616)
2013
12
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. (23650562)
2013
13
Novel mutations in enhanced S-cone syndrome. (23374571)
2013
14
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. (22711506)
2012
15
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. (20725840)
2011
16
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. (21364904)
2011
17
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. (21659555)
2011
18
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. (20842519)
2010
19
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. (20171741)
2010
20
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. (25391052)
2009
21
The enhanced S-cone syndrome in children. (21686439)
2009
22
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. (18835469)
2009
23
Long-term follow-up in enhanced s-cone syndrome. (25391051)
2009
24
Phenotypic variation in enhanced S-cone syndrome. (18436841)
2008
25
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. (17601449)
2007
26
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
27
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
28
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (16225923)
2005
29
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. (16167297)
2005
30
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (15459973)
2004
31
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). (15453866)
2004
32
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. (12601058)
2003
33
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
34
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
35
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (10655056)
2000

Variations for Enhanced S-Cone Syndrome

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

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1NR2E3p.Arg76GlnVAR_009266
2NR2E3p.Arg76TrpVAR_009267
3NR2E3p.Arg97HisVAR_010025
4NR2E3p.Arg104TrpVAR_010026
5NR2E3p.Glu121LysVAR_010027
6NR2E3p.Trp234SerVAR_010031
7NR2E3p.Arg309GlyVAR_010033
8NR2E3p.Arg311GlnVAR_010034rs28937873
9NR2E3p.Arg385ProVAR_010035
10NR2E3p.Met407LysVAR_010036
11NR2E3p.Gly88ValVAR_020839
12NR2E3p.Ala256GluVAR_020840
13NR2E3p.Leu263ProVAR_020841
14NR2E3p.Leu336ProVAR_020842
15NR2E3p.Leu353ValVAR_020843

Clinvar genetic disease variations for Enhanced S-Cone Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR2E3NR2E3, IVS1AS, A-Csingle nucleotide variantPathogenic
2NR2E3NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp)single nucleotide variantPathogenicrs104894492GRCh37Chr 15, 72103930: 72103930
3NR2E3NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln)single nucleotide variantPathogenicrs104894493GRCh37Chr 15, 72103931: 72103931
4NR2E3NR2E3, 9-BP DELdeletionPathogenic
5NR2E3NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)single nucleotide variantLikely pathogenic, Pathogenicrs28937873GRCh37Chr 15, 72105913: 72105913

Expression for genes affiliated with Enhanced S-Cone Syndrome

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

Pathways for genes affiliated with Enhanced S-Cone Syndrome

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GO Terms for genes affiliated with Enhanced S-Cone Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:00160569.7GRK1, GRK7
2phototransduction, visible lightGO:00076039.5GRK1, GRK7
3signal transductionGO:00071659.0CNGA3, GRK7, NR2E3

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

idNameGO IDScoreTop Affiliating Genes
1leucine zipper domain bindingGO:00435229.5CRX, NRL
2protein serine/threonine kinase activityGO:00046749.3GRK1, GRK7

Sources for Enhanced S-Cone Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet