MCID: ENH001
MIFTS: 43

Enhanced S-Cone Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Enhanced S-Cone Syndrome

About this section

Aliases & Descriptions for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 49 11 22 47 65
Enhanced S Cone Syndrome 67 24
 
Enhanced S Cone Dystrophy 22
Escs 67

Characteristics:

HPO:

61
enhanced s-cone syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 268100
UMLS65 C1849394

Summaries for Enhanced S-Cone Syndrome

About this section
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 syndrome, is related to influenza and goldmann-favre syndrome, and has symptoms including macular edema, retinoschisis and hemeralopia. 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 prostate, breast and smooth muscle, and related mouse phenotypes are vision/eye and nervous system.

Description from OMIM:49 268100

Related Diseases for Enhanced S-Cone Syndrome

About this section

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

About this section

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

Drugs & Therapeutics for Enhanced S-Cone Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 1, Phase 21930
2Interferon-gammaPhase 1, Phase 2137
3Antiviral AgentsPhase 1, Phase 28071
4Anti-Infective AgentsPhase 1, Phase 217220

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

About this section

Genetic tests related to Enhanced S-Cone Syndrome:

id Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome22 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

About this section

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

33
Prostate, Breast, Smooth muscle, Bone, T cells, Endothelial, Neutrophil

Animal Models for Enhanced S-Cone Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CNGA3, CRX, GRK1, NR2E3, NRL
2MP:00036318.0CNGA3, CRX, GRK1, NR2E3, NRL

Publications for Enhanced S-Cone Syndrome

About this section

Articles related to Enhanced S-Cone Syndrome:

(show all 32)
idTitleAuthorsYear
1
Chronic neutrophilic leukemia 2014: Update on diagnosis, molecular genetics, and management. (24845374)
2014
2
11A9-Hydroxysteroid Dehydrogenase Type 1 shRNA Ameliorates Glucocorticoid -Induced Insulin Resistance and Lipolysis in Mouse Abdominal Adipose Tissue. (25389364)
2014
3
Changes in IL-17 and TGF-I^1 levels in serum and bronchoalveolar lavage fluid and their clinical significance among children with asthma]. (23965869)
2013
4
An interesting case of eosinophilic meningitis. (23730662)
2013
5
Glaucocalyxin A inhibits platelet activation and thrombus formation preferentially via GPVI signaling pathway. (24386454)
2013
6
A population-based study of gastroesophageal reflux disease and sleep problems in elderly twins. (23119069)
2012
7
Recurrent laryngeal papillomatosis: successful treatment with human papillomavirus vaccination. (21220258)
2011
8
Primary Rosai-Dorfman disease of bone: a clinicopathologic study of 15 cases. (20679880)
2010
9
Temporal trends of acute nephrolithiasis in Auckland, New Zealand. (19684642)
2009
10
Bile duct ligation in neonatal rats: is it a valid experimental model for biliary atresia studies? (18452497)
2009
11
bFGF induces S1P1 receptor expression and functionality in human pulmonary artery smooth muscle cells. (18773427)
2008
12
Recurrence of primary breast lymphoma in contralateral breast: case report and review of the literature. (18809167)
2008
13
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. (18053270)
2007
14
Analysis of the possible involvement of the glutamate transporter gene EAAT2 and the glutamate receptor genes GRIA1 and GRIA2 in pathogenesis of motor neuron disease in the Russian population]. (16523673)
2006
15
Challenges identifying genetic determinants of pediatric cancers--the childhood leukemia experience. (16528607)
2006
16
Prospective detection of clinically relevant prostate cancer in the prostate specific antigen range 1 to 3 ng./ml. combined with free-to-total ratio 20% or less: the Aarau experience. (11490232)
2001
17
Localization of Fas antigen in oral squamous cell carcinoma. (10203220)
1999
18
Increased frequency of Th2-type cytokine-producing T cells in microfilaremic loiasis. (10348248)
1999
19
Failure of zafirlukast to prevent ibuprofen-induced anaphylaxis. (9532969)
1998
20
Transformation of NIH3T3 fibroblasts by the c-Kit receptor tyrosine kinase: effect of receptor density and ligand-requirement. (9464535)
1998
21
Evaluation of the role of NMDA-mediated excitotoxicity in the selective neuronal loss in experimental Wernicke encephalopathy. (9454622)
1998
22
Increase in total blood leukocyte count following intranasal administration of recombinant human granulocyte colony-stimulating factor (rhG-CSF) in rabbits with cyclophosphamide-induced leukopenia. (8535401)
1995
23
Transforming growth factor beta-induced tolerance to cadmium cytotoxicity in cultured vascular endothelial cells. (8160206)
1994
24
Paradoxical production of target protein using antisense RNA expression vectors. (7958984)
1994
25
Abnormal action-potential bursts and synchronized, GABA-mediated inhibitory potentials in an in vitro model of focal epilepsy. (1547749)
1992
26
Intraspinal bronchogenic cyst: ultrastructural study of the lining epithelium. (2816297)
1989
27
Visual rehabilitation of patients with advanced stages of glaucoma, optic atrophy, myopia or retinitis pigmentosa. (3266961)
1988
28
A case of predominantly unilateral pseudoprimary hyperaldosteronism. (6979689)
1982
29
Letter: Demographic data as graphic aid in screening program for Tay-Sachs disease. (1159604)
1975
30
Arthrography in Blount's disease. (4423920)
1974
31
The mess trick and the fainting lark. (14858861)
1951
32
Laryngitis:? Tuberculous. (19992056)
1939

Variations for Enhanced S-Cone Syndrome

About this section

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

About this section
Search GEO for disease gene expression data for Enhanced S-Cone Syndrome.

Pathways for genes affiliated with Enhanced S-Cone Syndrome

About this section

GO Terms for genes affiliated with Enhanced S-Cone Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:00160569.7GRK1, GRK7
2phototransduction, visible lightGO:00076039.5GRK1, GRK7
3signal transductionGO:00071659.0CNGA3, GRK7, NR2E3

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

idNameGO IDScoreTop Affiliating Genes
1leucine zipper domain bindingGO:00435229.5CRX, NRL
2protein serine/threonine kinase activityGO:00046749.3GRK1, GRK7

Sources for Enhanced S-Cone Syndrome

About this section
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