MCID: ENH001
MIFTS: 46

Enhanced S-Cone Syndrome

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

MalaCards integrated aliases for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 53 12 55 28 13 51 14 69
Goldmann-Favre Syndrome 55 69
Escs 53 71
Retinoschisis with Early Nyctalopia 55
Enhanced S Cone Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 268100
Disease Ontology 12 DOID:0090059
Orphanet 55 ORPHA53540
UMLS via Orphanet 70 C0339541 C1849394
ICD10 via Orphanet 33 H35.5

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 71 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 goldmann-favre syndrome, is related to goldmann-favre syndrome and retinal degeneration, and has symptoms including cataract, nyctalopia and retinoschisis. 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 Phototransduction and Nuclear Receptor transcription pathway. 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 Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has material basis in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23.

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 via clinical synopsis from OMIM:

53
Eyes:
liquefied vitreous body
preretinal band-shaped structures (veil)
macular edema
retinoschisis
retinal pigmentary degeneration
more
Lab:
extinguished electroretinogram


Clinical features from OMIM:

268100

Human phenotypes related to Enhanced S-Cone Syndrome:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 nyctalopia 31 HP:0000662
3 retinoschisis 31 HP:0030502
4 vitreoretinal degeneration 31 HP:0000655
5 pigmentary retinopathy 31 HP:0000580
6 hemeralopia 31 HP:0012047
7 macular edema 31 HP:0040049
8 undetectable electroretinogram 31 HP:0000550

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

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 CNGA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 CRX NRL THRB CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.77 NRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.77 CRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.77 THRB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.77 NRL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.77 THRB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.77 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 THRB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.77 NRL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 CNGA3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.77 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 NRL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 NRL THRB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.77 NRL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.77 NRL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.77 THRB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.77 THRB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.77 CRX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 CRX

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AIPL1 CNGA3 CRX GRK1 MFRP NR1D1
2 vision/eye MP:0005391 9.32 CRX GRK1 MFRP NR1D1 NR2E3 NRL

Drugs & Therapeutics for Enhanced S-Cone Syndrome

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


# 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:


# Name Status NCT ID Phase Drugs
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 Interferon gamma-1b
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:

# Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome 28 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

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

38
Eye

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show all 41)
# Title Authors Year
1
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. ( 29385733 )
2018
2
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME. ( 28541266 )
2017
3
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. ( 27732723 )
2016
4
Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. ( 27424008 )
2016
5
A new mutation in enhanced S-cone syndrome. ( 27573156 )
2016
6
Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome. ( 26878455 )
2016
7
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. ( 27033713 )
2016
8
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. ( 26803827 )
2016
9
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. ( 27522502 )
2016
10
Enhanced S-Cone Syndrome and Macular Hole. ( 26067693 )
2015
11
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. ( 25663266 )
2015
12
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. ( 26154701 )
2015
13
Clinical and molecular characterization of enhanced S-cone syndrome in children. ( 25079116 )
2014
14
Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. ( 24425859 )
2014
15
Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. ( 25423642 )
2014
16
Expanded clinical spectrum of enhanced S-cone syndrome. ( 23989059 )
2013
17
Novel mutations in enhanced S-cone syndrome. ( 23374571 )
2013
18
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. ( 23650562 )
2013
19
Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient. ( 23292616 )
2013
20
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. ( 22711506 )
2012
21
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. ( 21364904 )
2011
22
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. ( 20725840 )
2011
23
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. ( 21659555 )
2011
24
Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome. ( 20842519 )
2010
25
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. ( 20171741 )
2010
26
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. ( 18835469 )
2009
27
The enhanced S-cone syndrome in children. ( 21686439 )
2009
28
Long-term follow-up in enhanced s-cone syndrome. ( 25391051 )
2009
29
Dorzolamide use in the management of macular cysts in a patient with enhanced s-cone syndrome. ( 25391052 )
2009
30
Phenotypic variation in enhanced S-cone syndrome. ( 18436841 )
2008
31
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
32
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. ( 17601449 )
2007
33
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). ( 17109156 )
2006
34
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. ( 16225923 )
2005
35
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. ( 16167297 )
2005
36
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). ( 15453866 )
2004
37
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. ( 15459973 )
2004
38
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
39
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. ( 12601058 )
2003
40
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ( 12963616 )
2003
41
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:

71 (show all 15)
# 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 rs990307718
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
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NR2E3, 9-BP DEL deletion Pathogenic
2 NR2E3 NR2E3, IVS1AS, A-C single nucleotide variant Pathogenic
3 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.32 CNGA3 GRK1 RGS9BP
2
Show member pathways
10.75 NR1D1 NR2E3 THRB

GO Terms for Enhanced S-Cone Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.58 NR1D1 NR2E3 THRB
2 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1D1 NR2E3 THRB
3 response to stimulus GO:0050896 9.5 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
4 retina development in camera-type eye GO:0060041 9.43 MFRP NR2E3
5 intracellular receptor signaling pathway GO:0030522 9.43 NR1D1 NR2E3 THRB
6 eye photoreceptor cell development GO:0042462 9.37 MFRP NR2E3
7 visual perception GO:0007601 9.23 AIPL1 CNGA3 CRX GRK1 MFRP NR2E3
8 positive regulation of rhodopsin gene expression GO:0045872 9.16 NR2E3 NRL

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.72 CRX NR1D1 NR2E3 NRL THRB
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.58 CRX NR2E3 NRL
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 CRX NR1D1 NR2E3 NRL
4 nuclear receptor activity GO:0004879 9.37 NR1D1 NR2E3
5 sequence-specific DNA binding GO:0043565 9.35 CRX NR1D1 NR2E3 NRL THRB
6 leucine zipper domain binding GO:0043522 9.16 CRX NRL
7 steroid hormone receptor activity GO:0003707 8.8 NR1D1 NR2E3 THRB

Sources for Enhanced S-Cone Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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