ESCS
MCID: ENH001
MIFTS: 44

Enhanced S-Cone Syndrome (ESCS) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

Aliases & Descriptions for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 54 24 56 13 52 69
Enhanced S Cone Syndrome 66 29
Goldmann-Favre Syndrome 56 69
Retinoschisis with Early Nyctalopia 56
Enhanced S Cone Dystrophy 24
Escs 66

Characteristics:

Orphanet epidemiological data:

56
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

HPO:

32
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 268100
Orphanet 56 ORPHA53540
UMLS via Orphanet 70 C0339541
ICD10 via Orphanet 34 H35.5

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 66 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, retinoschisis 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/superpathways are Colorectal Cancer Metastasis and Phototransduction. The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

Description from OMIM: 268100

Related Diseases for Enhanced S-Cone Syndrome

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

Symptoms by clinical synopsis from OMIM:

268100

Clinical features from OMIM:

268100

Human phenotypes related to Enhanced S-Cone Syndrome:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 retinoschisis 32 HP:0030502
3 vitreoretinal degeneration 32 HP:0000655
4 macular edema 32 HP:0040049
5 nyctalopia 32 HP:0000662
6 pigmentary retinal degeneration 32 HP:0001146
7 undetectable electroretinogram 32 HP:0000550
8 hemeralopia 32 HP:0012047

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 GRK7 CNGA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 GRK7 NRL CNGA3 CRX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.09 NRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.09 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 CRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.09 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.09 NRL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 CRX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.09 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.09 GRK7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.09 NRL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.09 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 CNGA3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 NRL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.09 GRK7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.09 NRL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.09 NRL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.09 GRK7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.09 NRL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.09 GRK7
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.09 CRX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.09 CRX
24 Decreased vesicular stomatitis virus (VSV) infection GR00356-A-1 9.16 GRK1 GRK7
25 Transferrin accumulation in the perinuclear area GR00356-A-3 8.62 GRK1 GRK7

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CRX GRK1 NR2E3 NRL CNGA3
2 vision/eye MP:0005391 9.02 CNGA3 CRX GRK1 NR2E3 NRL

Drugs & Therapeutics for Enhanced S-Cone Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 1, Phase 2
2 Antiviral Agents Phase 1, Phase 2
3 Interferon-gamma Phase 1, Phase 2
4 interferons Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Enhanced S-Cone Syndrome

Genetic Tests for Enhanced S-Cone Syndrome

Genetic tests related to Enhanced S-Cone Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome 29 24 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

39
Eye

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show all 39)
id Title Authors Year
1
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. ( 27522502 )
2016
2
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. ( 27732723 )
2016
3
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. ( 26803827 )
2016
4
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. ( 27033713 )
2016
5
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. ( 27424008 )
2016
6
A new mutation in enhanced S-cone syndrome. ( 27573156 )
2016
7
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. ( 26878455 )
2016
8
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. ( 25663266 )
2015
9
Enhanced S-Cone Syndrome and Macular Hole. ( 26067693 )
2015
10
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. ( 26154701 )
2015
11
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. ( 25423642 )
2014
12
Clinical and molecular characterization of enhanced S-cone syndrome in children. ( 25079116 )
2014
13
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. ( 24425859 )
2014
14
Expanded clinical spectrum of enhanced S-cone syndrome. ( 23989059 )
2013
15
Novel mutations in enhanced S-cone syndrome. ( 23374571 )
2013
16
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. ( 23650562 )
2013
17
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. ( 23292616 )
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
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. ( 20725840 )
2011
21
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. ( 21659555 )
2011
22
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. ( 20842519 )
2010
23
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. ( 20171741 )
2010
24
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. ( 25391052 )
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
The enhanced S-cone syndrome in children. ( 21686439 )
2009
28
Phenotypic variation in enhanced S-cone syndrome. ( 18436841 )
2008
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
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. ( 17601449 )
2007
31
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). ( 17109156 )
2006
32
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. ( 16167297 )
2005
33
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. ( 16225923 )
2005
34
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). ( 15453866 )
2004
35
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. ( 15459973 )
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
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. ( 12601058 )
2003
38
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ( 12963616 )
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

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

66 (show all 15)
id 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
4 NR2E3 p.Arg104Trp VAR_010026
5 NR2E3 p.Glu121Lys VAR_010027 rs146403122
6 NR2E3 p.Trp234Ser VAR_010031
7 NR2E3 p.Arg309Gly VAR_010033
8 NR2E3 p.Arg311Gln VAR_010034 rs28937873
9 NR2E3 p.Arg385Pro VAR_010035 rs766769900
10 NR2E3 p.Met407Lys VAR_010036
11 NR2E3 p.Gly88Val VAR_020839
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

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NR2E3, IVS1AS, A-C single nucleotide variant Pathogenic
2 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
3 NR2E3 NR2E3, 9-BP DEL deletion Pathogenic
4 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
5 NRL NM_006177.3(NRL): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs762991211 GRCh37 Chromosome 14, 24551967: 24551967

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

Cellular components related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.62 GRK1 GRK7

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

id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.5 CRX NR2E3 NRL
2 response to stimulus GO:0050896 9.43 CNGA3 CRX GRK1 GRK7 NR2E3 NRL
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GRK1 GRK7
4 positive regulation of rhodopsin gene expression GO:0045872 9.16 NR2E3 NRL
5 visual perception GO:0007601 9.1 CNGA3 CRX GRK1 GRK7 NR2E3 NRL

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.54 CRX NR2E3 NRL
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 CRX NR2E3 NRL
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.43 CRX NR2E3 NRL
4 leucine zipper domain binding GO:0043522 9.16 CRX NRL
5 G-protein coupled receptor kinase activity GO:0004703 8.96 GRK1 GRK7
6 rhodopsin kinase activity GO:0050254 8.62 GRK1 GRK7

Sources for Enhanced S-Cone Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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