Hypophosphatemic Rickets, X-Linked Dominant (XLHR)

X-连锁显性低磷性佝偻病(来自ICD-11)

别称:

X-Linked Hypophosphatemia

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemic Rickets

Xlhr

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hpdr

Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets

Hypophosphatemia, Vitamin D-Resistant Rickets

Rickets, Hypophosphatemic, X-Linked Dominant

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Vitamin D-Resistant Rickets X-Linked

Rickets, X-Linked Hypophosphatemic

Vitamin D-Resistant Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia X-Linked

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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

低磷酸盐性佝偻病，X连锁显性，也称为X连锁低磷酸盐血症，与维生素D依赖性佝偻病，类型2a和低磷酸盐血症有关，症状包括关节痛和骨痛。与低磷酸盐性佝偻病，X连锁显性相关的基因是PHEX（磷酸调节内肽酶X连锁），其相关通路/超级通路包括信号转导和磷脂酶C通路。在该疾病的背景下，已提到的药物有骨化三醇和胆骨化醇。相关组织包括肾和骨，相关表型为低磷酸盐血症和佝偻病。

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