MCID: ENH001
MIFTS: 43

Enhanced S-Cone Syndrome malady

Genetic diseases (common) category

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 24 65
Enhanced S Cone Dystrophy 22
 
Enhanced S Cone Syndrome 67
Escs 67


Classifications:



External Ids:

OMIM49 268100

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 dystrophy, is related to retinitis and goldmann-favre syndrome, and has symptoms including autosomal recessive inheritance, cataract and undetectable electroretinogram. 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. Related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:49 268100

Related Diseases for Enhanced S-Cone Syndrome

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Diseases related to Enhanced S-Cone Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.7
2goldmann-favre syndrome10.6
3retinal degeneration10.5
4retinoschisis10.3
5cone-rod dystrophy 310.2
6macular degeneration, age-related, 210.2
7cone-rod dystrophy 810.2
8macular degeneration, age-related, 110.2
9macular degeneration, age-related, 410.2
10macular degeneration, age-related, 1210.2
11cone-rod dystrophy 1210.2
12macular dystrophy, retinal, 210.2
13macular dystrophy, retinal, 310.2
14macular degeneration, age-related, 1510.2
15macular dystrophy, dominant cystoid10.2
16retinitis pigmentosa 110.2
17macular degeneration, age-related 510.2
18cone-rod dystrophy 1510.2
19cone dystrophy 410.2
20macular degeneration, age-related, 810.2
21retinal cone dystrophy 410.2
22retinal cone dystrophy 310.2
23macular degeneration, age-related, 310.2
24cone-rod dystrophy 510.2
25retinitis pigmentosa 3010.2
26n syndrome10.2
27retinitis pigmentosa 310.2
28retinitis pigmentosa 210.2
29cone-rod dystrophy10.2
30child syndrome10.2
31leber congenital amaurosis10.2
32retinitis pigmentosa10.2
33skin disease10.2
34foster-kennedy syndrome10.2
35choroiditis10.2
36vascular skin disease10.2
37hereditary retinal dystrophy10.2
38cone dystrophy10.2
39macular holes10.2
40spiradenoma10.2
41central nervous system hereditary degenerative disease10.2
42eye degenerative disease10.2
43eye disease10.2
44fundus dystrophy10.2
45globe disease10.2
46lens disease10.2
47macular retinal edema10.2
48optic nerve disease10.2
49retinal disease10.2
50retinal vascular disease10.2

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 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cataract HP:0000518
3 undetectable electroretinogram HP:0000550
4 vitreoretinal degeneration HP:0000655
5 nyctalopia HP:0000662
6 pigmentary retinal degeneration HP:0001146
7 hemeralopia HP:0012047
8 retinoschisis HP:0030502
9 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
1Interferon-gammaPhase 1, Phase 2135

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 24 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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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:00036317.6CNGA3, CRX, GRK1, NR2E3, NRL
2MP:00053917.5CNGA3, CRX, GRK1, NR2E3, NRL

Publications for Enhanced S-Cone Syndrome

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Articles related to Enhanced S-Cone Syndrome:

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:00973819.4GRK1, GRK7
2photoreceptor outer segmentGO:00017509.3CNGA3, GRK1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of rhodopsin gene expressionGO:004587210.3NR2E3, NRL
2termination of G-protein coupled receptor signaling pathwayGO:00380329.8GRK1, GRK7
3rhodopsin mediated signaling pathwayGO:00160569.8GRK1, GRK7
4regulation of rhodopsin mediated signaling pathwayGO:00224009.8GRK1, GRK7
5retina development in camera-type eyeGO:00600419.6CRX, NR2E3
6protein autophosphorylationGO:00467779.5GRK1, GRK7
7response to stimulusGO:00508969.5CRX, NRL
8phototransduction, visible lightGO:00076039.4GRK1, GRK7
9transcription from RNA polymerase II promoterGO:00063668.8CRX, NR2E3, NRL
10visual perceptionGO:00076016.8CNGA3, 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:00047039.9GRK1, GRK7
2rhodopsin kinase activityGO:00502549.9GRK1, GRK7
3leucine zipper domain bindingGO:00435229.3CRX, NRL
4sequence-specific DNA bindingGO:00435658.8CRX, NR2E3, NRL

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