MCID: ENH001
MIFTS: 45

Enhanced S-Cone Syndrome malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 52 24 54 12 50 68
Enhanced S Cone Syndrome 70 27
Goldmann-Favre Syndrome 54 68
 
Retinoschisis with Early Nyctalopia 54
Enhanced S Cone Dystrophy 24
Escs 70

Characteristics:

Orphanet epidemiological data:

54
enhanced s-cone syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

64
enhanced s-cone syndrome:
Inheritance: autosomal recessive inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 268100
Orphanet54 ORPHA53540
UMLS via Orphanet69 C0339541
ICD10 via Orphanet31 H35.5

Summaries for Enhanced S-Cone Syndrome

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UniProtKB/Swiss-Prot:70 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 Decreased vesicular stomatitis virus (VSV) infection and Transferrin accumulation in the perinuclear area.

Description from OMIM:52 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 & Phenotypes for Enhanced S-Cone Syndrome

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Symptoms by clinical synopsis from OMIM:

268100

Clinical features from OMIM:

268100

Human phenotypes related to Enhanced S-Cone Syndrome:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 cataract64 HP:0000518
2 undetectable electroretinogram64 HP:0000550
3 vitreoretinal degeneration64 HP:0000655
4 nyctalopia64 HP:0000662
5 pigmentary retinal degeneration64 HP:0001146
6 hemeralopia64 HP:0012047
7 retinoschisis64 HP:0030502
8 macular edema64 HP:0040049

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00241-A-110.2GRK1, GRK7
2GR00356-A-310.1GRK1, GRK7
3GR00366-A-358.9CNGA3, CRX, GRK7, NRL

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4CNGA3, CRX, GRK1, NR2E3, NRL
2MP:00053917.6CNGA3, CRX, GRK1, NR2E3, NRL

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 22137
2Interferon-gammaPhase 1, Phase 2145
3Antiviral AgentsPhase 1, Phase 29732
4Anti-Infective AgentsPhase 1, Phase 221402

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 Syndrome27 24 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

36
Eye

Publications for Enhanced S-Cone Syndrome

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Articles related to Enhanced S-Cone Syndrome:

(show all 39)
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
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. (27732723)
2016
5
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. (26878455)
2016
6
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. (27033713)
2016
7
A new mutation in enhanced S-cone syndrome. (27573156)
2016
8
Enhanced S-Cone Syndrome and Macular Hole. (26067693)
2015
9
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. (26154701)
2015
10
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. (25663266)
2015
11
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. (25423642)
2014
12
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. (24425859)
2014
13
Clinical and molecular characterization of enhanced S-cone syndrome in children. (25079116)
2014
14
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. (23292616)
2013
15
Expanded clinical spectrum of enhanced S-cone syndrome. (23989059)
2013
16
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. (23650562)
2013
17
Novel mutations in enhanced S-cone syndrome. (23374571)
2013
18
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. (22711506)
2012
19
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. (21364904)
2011
20
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. (21659555)
2011
21
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. (20725840)
2011
22
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. (20171741)
2010
23
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. (20842519)
2010
24
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. (25391052)
2009
25
The enhanced S-cone syndrome in children. (21686439)
2009
26
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. (18835469)
2009
27
Long-term follow-up in enhanced s-cone syndrome. (25391051)
2009
28
Phenotypic variation in enhanced S-cone syndrome. (18436841)
2008
29
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. (17601449)
2007
30
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
31
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
32
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (16225923)
2005
33
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. (16167297)
2005
34
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (15459973)
2004
35
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). (15453866)
2004
36
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
37
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
38
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. (12601058)
2003
39
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:

70 (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
1NRLNM_006177.3(NRL): c.91C> T (p.Arg31Ter)SNVPathogenicrs762991211GRCh37Chr 14, 24551967: 24551967
2NR2E3NR2E3, IVS1AS, A-CSNVPathogenicChr na, -1: -1
3NR2E3NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp)SNVPathogenicrs104894492GRCh37Chr 15, 72103930: 72103930
4NR2E3NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln)SNVPathogenicrs104894493GRCh37Chr 15, 72103931: 72103931
5NR2E3NR2E3, 9-BP DELdeletionPathogenicChr na, -1: -1
6NR2E3NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)SNVLikely 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
2protein autophosphorylationGO:004677710.0GRK1, GRK7
3regulation of rhodopsin mediated signaling pathwayGO:002240010.0GRK1, GRK7
4response to stimulusGO:00508969.9CRX, NRL
5transcription from RNA polymerase II promoterGO:00063669.4CRX, 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:00502549.3GRK1, GRK7
3leucine zipper domain bindingGO:00435229.2CRX, NRL

Sources for Enhanced S-Cone Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet