Brittle Bone Disorder (OI)

Brittle Bone Disorder(来自ICD-11)
别称:
Osteogenesis Imperfecta
Brittle Bone Disease
Fragilitas Ossium
Lobstein Disease
Oi
Glass Bone Disease
Lobstein's Disease
Osteopsathyrosis
Osteogenesis Imperfecta, Recessive Perinatal Lethal
Osteogenesis Imperfecta, Dominant Perinatal Lethal
White Blue Sclera - Fragility of Bone - Deafness
Blue Sclera with Fragility of Bone and Deafness
Oi - [osteogenesis Imperfecta]
Brittle Bone Syndrome
Osteitis Fragilitans
Lobstein's Syndrome
Vrolik's Disease
Ossium Fragility
Vrolik Disease
Bony Fragility
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type ii, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Brittle Bone Disorder is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Pleural mesothelioma and Collagen chain trimerization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and gait disturbance
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相关ID:
MESH:D010013
ICD11:1219932551

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
XLD
AD
AR
XL
All ages
1-5/10000
143
1576
283

疾病表征

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靶点药物

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MGI
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