Retinoschisis 1, X-Linked, Juvenile (RS1)

Retinoschisis 1, X-Linked, Juvenile(来自ICD-11)
别称:
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
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相关ID:
MESH:D041441
ICD11:1118046584

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XL
XLD
Infant
1-9/100000
34
312
97

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MGI
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