Details of Disease

General Information of Disease (ID: DISKV7Y8)

Disease Name X-linked retinoschisis
Synonyms
XLRS1; RS1; juvenile retinoschisis; retinoschisis 1, X-linked, juvenile; retinoschisis juvenile X chromosome-linked; retinoschisis X-linked; X-linked juvenile retinoschisis 1; XJR; RS; juvenile X-linked retinoschisis; XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis; retinoschisis, X-linked recessive; X-linked juvenile retinoschisis type 1; retinoschisis, X-linked
Disease Class 9B73: Retinal detachment
Definition A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DIS3PN9X: X-linked disease
DISTTWND: Retinoschisis
DISVPRKD: Vitreoretinal degeneration
DISKV7Y8: X-linked retinoschisis
ICD Code
ICD-11
ICD-11: 9B73.11
Disease Identifiers
MONDO ID
MONDO_0010725
UMLS CUI
C3714753
OMIM ID
312700
MedGen ID
811458
Orphanet ID
792

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
BIIB-087 DMR8EPF Phase 1/2 Gene therapy [1]
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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
RS1 TTT2CZY Limited Genetic Variation [2]
SLC5A1 TT2UE56 Strong Biomarker [3]
RS1 TTT2CZY Definitive X-linked [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD99 OTPUZ5DE Strong Altered Expression [5]
CDKL5 OTGL5HRV Strong Genetic Variation [2]
RS1 OTEW1ZM5 Definitive X-linked [4]
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References

1 ClinicalTrials.gov (NCT02416622) Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS). U.S. National Institutes of Health.
2 Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.Sci Rep. 2017 Mar 8;7:44060. doi: 10.1038/srep44060.
3 The Na(+)-D-glucose cotransporters SGLT1 and SGLT2 are targets for the treatment of diabetes and cancer.Pharmacol Ther. 2017 Feb;170:148-165. doi: 10.1016/j.pharmthera.2016.10.017. Epub 2016 Oct 20.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 SEPTIN2 and STATHMIN Regulate CD99-Mediated Cellular Differentiation in Hodgkin's Lymphoma.PLoS One. 2015 May 22;10(5):e0127568. doi: 10.1371/journal.pone.0127568. eCollection 2015.