Osteogenesis Imperfecta, Type I (OI1)

Osteogenesis Imperfecta, Type I(来自ICD-11)
别称:
Osteogenesis Imperfecta Type 1
Osteogenesis Imperfecta Type I
Oi, Type I
Oi1
Osteogenesis Imperfecta with Blue Sclerae
Non-Deforming Osteogenesis Imperfecta
Osteogenesis Imperfecta Tarda
Mild Osteogenesis Imperfecta
Adair-Dighton Syndrome
Van Der Hoeve Syndrome
Oi Type 1
Osteopenic Non-Fracture Syndrome
Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta 1
Osteogenesis Imperfecta
Lobstein's Disease
Oi-I
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta, type vi and osteogenesis imperfecta, type xi. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are dentinogenesis imperfecta and hip dysplasia
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
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参考文献
MALACARDS
AD
Child
1-9/100000
32
387
337

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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