佝偻病维生素 D 依赖性 1B
基因病名称(英)
Rickets vitamin D-dependent 1B
别名(英)
25-hydroxyvitamimn D3 deficiency selective,25-hydroxyvitamin D(3) deficiency,Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency,Selective 25-hydroxyvitamin D(3) deficiency
别名
选择性25-羟基维生素D3缺乏症、25-羟基维生素D(3)缺乏症、25-羟化酶缺乏症导致的假维生素D(3)缺乏症、选择性25-羟基维生素D(3)缺乏症
统计
reviewed:1; annotated:0
交叉引用
600081,C1838657,D012279
描述(英)
An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D.
描述
一种常染色体隐性遗传病，由活性形式的维生素 D（1,25-二羟基维生素 D3）选择性缺乏引起，并导致骨矿化缺陷和佝偻病的临床特征。患者血清钙浓度低、磷酸盐浓度低、碱性磷酸酶活性升高和 25-羟基维生素 D 水平低。