Details of Disease

General Information of Disease (ID: DIS2IWS3)

Disease Name Enhanced S-cone syndrome
Synonyms ESCS; retinoschisis with early nyctalopia; enhanced S-cone syndrome
Definition
An 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. Characteristics include 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.
Disease Hierarchy
DISVPRKD: Vitreoretinal degeneration
DIS2IWS3: Enhanced S-cone syndrome
Disease Identifiers
MONDO ID
MONDO_0100288
MESH ID
C564835
UMLS CUI
C1849394
OMIM ID
268100
MedGen ID
341446

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1F TTJ0SO4 Strong Genetic Variation [1]
CNGA3 TTW0QOV Strong Genetic Variation [1]
TAAR5 TTCO25G Definitive Genetic Variation [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRPF8 OTU39JZI Limited Genetic Variation [3]
CRB1 OTXYUNG0 Strong Genetic Variation [1]
FRMD4B OTVI6YFP Strong Genetic Variation [4]
GRK1 OT7MPSG7 Strong Biomarker [5]
GRK7 OT083IH0 Strong Biomarker [5]
NYX OTAGXLYP Strong Genetic Variation [1]
NR2E3 OTO3GBHQ Definitive Autosomal recessive [6]
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⏷ Show the Full List of 7 DOT(s)

References

1 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
2 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777.
3 Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.Ophthalmic Genet. 2005 Jun;26(2):91-100. doi: 10.1080/13816810590968032.
4 An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.Hum Mol Genet. 2018 Oct 1;27(19):3340-3352. doi: 10.1093/hmg/ddy238.
5 Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.Invest Ophthalmol Vis Sci. 2003 Mar;44(3):1268-74. doi: 10.1167/iovs.02-0494.
6 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003 Sep;121(9):1316-23. doi: 10.1001/archopht.121.9.1316.