Osteogenesis Imperfecta, Type Iv (OI4)

Osteogenesis Imperfecta, Type Iv(来自ICD-11)
别称:
Osteogenesis Imperfecta Type 4
Osteogenesis Imperfecta Type Iv
Oi, Type Iv
Oi4
Osteogenesis Imperfecta with Normal Sclerae
Oi Type 4
Osteogenesis Imperfecta with Normal Sclerae, Dominant Form
Osteogenesis Imperfecta with Normal Sclera
Osteogenesis Imperfecta 4
Oi Type Iv
Oi-Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type 4, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Extracellular matrix organization and ECM proteoglycans. The drugs Zoledronic acid and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are blue sclerae and scoliosis
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基础信息

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参考文献
MALACARDS
AR
AD
Newborn
1-9/100000
33
442
62

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MGI
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