Retinoschisis 1, X-Linked, Juvenile (RS1)

Alias:
Retinoschisis
X-Linked Juvenile Retinoschisis
X-Linked Retinoschisis
Juvenile Retinoschisis
Xlrs
X-Linked Juvenile Retinoschisis 1
Xlrs1
Rs1
Congenital X-Linked Retinoschisis
Retinoschisis Juvenile X-Linked 1
Retinoschisis, Juvenile, X-Linked
Retinoschisis, Type 1, X-Linked
Xlrs - [x-Linked Retinoschisis]
Retinoschisis, Degenerative
Degenerative Retinoschisis
Retinoschisis, Juvenile
Retinoschisis, X-Linked
Xjr
Rs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinoschisis 1, X-Linked, Juvenile, also known as retinoschisis, is related to x-linked congenital retinoschisis and vitreoretinal dystrophy. An important gene associated with Retinoschisis 1, X-Linked, Juvenile is RS1 (Retinoschisin 1), and among its related pathways/superpathways are Sweet Taste Signaling and Visual phototransduction. The drugs Triamcinolone and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are abnormality of eye movement and cataract
Related ID:
MESH:D041441
ICD11:1118046584

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
1-9/100000
34
312
97

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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