Paget Disease of Bone 5, Juvenile-Onset (PDB5)

幼年发病型Paget骨病5型(来自ICD-11)

别称:

Juvenile Paget Disease

Hyperostosis Corticalis Deformans Juvenilis

Hyperphosphatasemia with Bone Disease

Hereditary Hyperphosphatasia

Familial Osteoectasia

Jpd

Hyperphosphatasia, Familial Idiopathic

Paget Disease, Juvenile

Osteoectasia, Familial

Pdb5

Jpg

Hyperphosphatasemia, Chronic Congenital Idiopathic

Chronic Congenital Idiopathic Hyperphosphatasemia

Chronic Congenital Idiopathic Hyperphosphatasia

Paget Disease of Bone, Type 5, Juvenile-Onset

Familial Idiopathic Hyperphosphatasemia

Osteoectasia with Hyperphosphatasia

Osteochalasia Desmalis Familiaris

Idiopathic Hyperphosphatasia

Paget Disease Juvenile Type

Juvenile Osteitis Deformans

Juvenile Paget's Disease

Osteoectasia Familial

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Paget病5型，青少年型，也称为青少年Paget病，与骨Paget病和继发性甲状旁腺功能亢进有关。与Paget病5型，青少年型相关的基因是TNFRSF11B（肿瘤坏死因子受体超家族成员11b），其相关通路/超通路包括免疫系统中的细胞因子信号通路和TNFR1通路。相关组织包括骨，相关表型为巨脑和长骨弓。

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