Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency (DISPORD)

细胞色素P450氧化还原酶缺乏相关性类固醇激素分泌异常(来自ICD-11)

别称:

Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency

Por Deficiency

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency

Disordered Steroidogenesis Due to Por Deficiency

Pord

Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency

Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency

Adrenal Hyperplasia Congenital Due to Cytochrome P450 Oxidoreductase Deficiency

Steroidogenesis, Disordered, Due to Cytochrome P450 Oxidoreductase Deficiency

Antley-Bixler Syndrome with Disordered Steroidogenesis

Cytochrome P450 Oxidoreductase Deficiency

Dispord

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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

由于细胞色素P450氧化还原酶缺陷引起的紊乱性类固醇生成，也称为细胞色素P450氧化还原酶缺陷引起的先天性肾上腺皮质增生，与细胞色素P450氧化还原酶缺陷和安特利-比克斯勒综合征有关，该综合征伴有生殖器畸形和紊乱性类固醇生成。与紊乱性类固醇生成由于细胞色素P450氧化还原酶缺陷有关的重要基因是POR（细胞色素P450氧化还原酶）。附属组织包括卵巢和骨，相关表型为骨骼系统异常和对ACTH刺激试验的异常反应。

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