MCID: ENH001
MIFTS: 44

Enhanced S-Cone Syndrome malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

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Sources:
50OMIM, 23GeneTests, 52Orphanet, 12diseasecard, 48Novoseek, 66UMLS, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 50 23 52 12 48 66
Enhanced S Cone Syndrome 68 25
Retinoschisis with Early Nyctalopia 52
 
Enhanced S Cone Dystrophy 23
Goldmann-Favre Syndrome 52
Escs 68

Characteristics:

Orphanet epidemiological data:

52
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

62
enhanced s-cone syndrome:
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 268100
Orphanet52 ORPHA53540
ICD10 via Orphanet29 H35.5
UMLS via Orphanet67 C0339541

Summaries for Enhanced S-Cone Syndrome

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UniProtKB/Swiss-Prot:68 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 cataract, undetectable electroretinogram and vitreoretinal 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 are Visual Cycle in Retinal Rods and Colorectal Cancer Metastasis. Affiliated tissues include eye, and related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:50 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 cataract HP:0000518
2 undetectable electroretinogram HP:0000550
3 vitreoretinal degeneration HP:0000655
4 nyctalopia HP:0000662
5 pigmentary retinal degeneration HP:0001146
6 hemeralopia HP:0012047
7 retinoschisis HP:0030502
8 macular edema HP:0040049

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 22112

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 Syndrome25 23 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

34
Eye

Animal Models for Enhanced S-Cone Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8CNGA3, CRX, GRK1, NR2E3, NRL
2MP:00053917.8CNGA3, CRX, GRK1, NR2E3, NRL

Publications for Enhanced S-Cone Syndrome

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Articles related to Enhanced S-Cone Syndrome:

(show all 38)
idTitleAuthorsYear
1
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. (27522502)
2016
2
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. (26803827)
2016
3
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. (27424008)
2016
4
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. (26878455)
2016
5
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. (27033713)
2016
6
A new mutation in enhanced S-cone syndrome. (27573156)
2016
7
Enhanced S-Cone Syndrome and Macular Hole. (26067693)
2015
8
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. (26154701)
2015
9
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. (25663266)
2015
10
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. (25423642)
2014
11
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. (24425859)
2014
12
Clinical and molecular characterization of enhanced S-cone syndrome in children. (25079116)
2014
13
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. (23292616)
2013
14
Expanded clinical spectrum of enhanced S-cone syndrome. (23989059)
2013
15
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. (23650562)
2013
16
Novel mutations in enhanced S-cone syndrome. (23374571)
2013
17
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. (22711506)
2012
18
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. (21364904)
2011
19
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. (21659555)
2011
20
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. (20725840)
2011
21
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. (20171741)
2010
22
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. (20842519)
2010
23
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. (25391052)
2009
24
The enhanced S-cone syndrome in children. (21686439)
2009
25
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. (18835469)
2009
26
Long-term follow-up in enhanced s-cone syndrome. (25391051)
2009
27
Phenotypic variation in enhanced S-cone syndrome. (18436841)
2008
28
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. (17601449)
2007
29
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
30
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
31
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (16225923)
2005
32
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. (16167297)
2005
33
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (15459973)
2004
34
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). (15453866)
2004
35
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
36
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
37
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. (12601058)
2003
38
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:

68 (show all 15)
id Symbol AA change Variation ID SNP ID
1NR2E3p.Arg76GlnVAR_009266rs104894493
2NR2E3p.Arg76TrpVAR_009267rs104894492
3NR2E3p.Arg97HisVAR_010025
4NR2E3p.Arg104TrpVAR_010026
5NR2E3p.Glu121LysVAR_010027rs146403122
6NR2E3p.Trp234SerVAR_010031
7NR2E3p.Arg309GlyVAR_010033
8NR2E3p.Arg311GlnVAR_010034rs28937873
9NR2E3p.Arg385ProVAR_010035rs766769900
10NR2E3p.Met407LysVAR_010036
11NR2E3p.Gly88ValVAR_020839
12NR2E3p.Ala256GluVAR_020840rs377257254
13NR2E3p.Leu263ProVAR_020841
14NR2E3p.Leu336ProVAR_020842rs752883545
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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Cellular components related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:00973819.3GRK1, GRK7

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of rhodopsin gene expressionGO:004587210.3NR2E3, NRL
2regulation of rhodopsin mediated signaling pathwayGO:00224009.8GRK1, GRK7
3response to stimulusGO:00508969.5CRX, NRL
4protein autophosphorylationGO:00467779.5GRK1, GRK7
5transcription from RNA polymerase II promoterGO:00063668.5CRX, NR2E3, NRL
6visual perceptionGO:00076017.1CNGA3, CRX, GRK1, GRK7, NR2E3, NRL

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled receptor kinase activityGO:00047039.6GRK1, GRK7
2rhodopsin kinase activityGO:00502549.6GRK1, GRK7
3leucine zipper domain bindingGO:00435229.2CRX, NRL

Sources for Enhanced S-Cone Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet