MCID: ENH001
MIFTS: 31

Enhanced S-Cone Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Enhanced S-Cone Syndrome

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Enhanced S-Cone Syndrome, Aliases & Descriptions:

Name: Enhanced S-Cone Syndrome 45 10 20 43 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 268100

Summaries for Enhanced S-Cone Syndrome

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MalaCards based summary: Enhanced S-Cone Syndrome is related to leber congenital amaurosis and retinal degeneration, and has symptoms including autosomal recessive inheritance, cataract and abolished electroretinogram (erg). An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (nuclear receptor subfamily 2, group E, member 3). The compound leucine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:45 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:

idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.5NRL
2retinal degeneration30.4NR2E3, NRL
3goldmann-favre syndrome10.6
4retinitis10.6
5retinoschisis10.4
6achromatopsia10.0NR2E3, CNGA3
7blindness9.9NRL, NR2E3
8retinoblastoma9.8NR2E3, NRL
9retinitis pigmentosa autosomal recessive9.7NR2E3, NRL

Graphical network of 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 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cataract HP:0000518
3 abolished electroretinogram (erg) HP:0000550
4 vitreoretinal degeneration HP:0000655
5 night blindness HP:0000662
6 edema HP:0000969
7 pigmentary retinal degeneration HP:0001146
8 hemeralopia HP:0012047

Drugs & Therapeutics for Enhanced S-Cone Syndrome

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Drug clinical trials:

Search ClinicalTrials for Enhanced S-Cone Syndrome

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 Syndrome20 22 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5NR2E3, NRL, CNGA3
2MP:00053918.2NR2E3, NRL, CNGA3

Publications for Enhanced S-Cone Syndrome

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Articles related to Enhanced S-Cone Syndrome:

(show all 17)
idTitleAuthorsYear
1
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. (23650562)
2013
2
Novel mutations in enhanced S-cone syndrome. (23374571)
2013
3
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome. (20725840)
2011
4
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. (21364904)
2011
5
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. (21659555)
2011
6
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. (18835469)
2009
7
Phenotypic variation in enhanced S-cone syndrome. (18436841)
2008
8
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. (17601449)
2007
9
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
10
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). (17109156)
2006
11
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (16225923)
2005
12
Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. (16167297)
2005
13
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (15459973)
2004
14
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). (15453866)
2004
15
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
16
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (12963616)
2003
17
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:

62 (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:

6
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 variantPathogenicrs28937873GRCh37Chr 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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Compounds for genes affiliated with Enhanced S-Cone Syndrome

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Sources:
43Novoseek
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Compounds related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1leucine439.0NR2E3, NRL

GO Terms for genes affiliated with Enhanced S-Cone Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1signal transductionGO:00071659.3NR2E3, CNGA3
2transcription from RNA polymerase II promoterGO:00063668.7NR2E3, NRL
3visual perceptionGO:00076018.4NR2E3, NRL, CNGA3

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.0NR2E3, NRL

Products for genes affiliated with Enhanced S-Cone Syndrome

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Sources for Enhanced S-Cone Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet