Vitamin D-Dependent Rickets, Type 2a (VDDR2A)

维生素D依赖性佝偻病2A型(来自ICD-11)

别称:

Hvdrr

Hypocalcemic Vitamin D-Resistant Rickets

Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol

Generalized Resistance to 1,25-Dihydroxyvitamin D

Rickets, Hereditary Vitamin D-Resistant

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Rickets-Alopecia Syndrome

Pddr Iia

Vddr2a

Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia

Vitamin D-Dependent Rickets Type 2a with or Without Alopecia

Vitamin D-Dependent Rickets Type Ii with Alopecia

Hypophosphatemic Rickets, X-Linked Dominant

Hereditary Vitamin D-Resistant Rickets

Rickets Hereditary Vitamin D-Resistant

Pseudovitamin D-Deficiency, Type Iia

Vitamin D-Dependent Rickets, Type Ii

Generalized 1,25-Dihydroxyvitamin D

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Pseudovitamin D-Deficiency Type Iia

Vitamin D-Dependent Rickets, Type 2

Familial Hypophosphatemic Rickets

Rickets Vitamin D-Dependent 2a

Type Iia Rickets

Vddr Ii

Vdrr Ii

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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

维生素D依赖性软骨病2a型，也称为hvdrr，与低钙性维生素D依赖性软骨病和肾钙化有关，其症状包括肌肉无力、骨痛和站立困难。与维生素D依赖性软骨病2a型有关的重要基因是VDR（维生素D受体），其相关通路/超级通路包括类固醇代谢和维生素D受体通路。在该疾病的背景下，已提到的药物有胆骨化醇和单克隆抗体。附属组织包括骨和皮质，相关表型为低磷血症和甲状旁腺功能亢进。

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