Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency (AH5)

17-α-羟化酶缺乏性先天性肾上腺增生(来自ICD-11)

别称:

Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency

Deficiency of Steroid 17-Alpha-Monooxygenase

17,20-Lyase Deficiency, Isolated

Combined 17-Hydroxylase/17,20-Lyase Deficiency

Cah Due to 17-Alpha-Hydroxylase Deficiency

17-Alpha-Hydroxylase Deficiency

Adrenal Hyperplasia V

46,xy Difference of Sex Development Due to Isolated 17,20-Lyase Deficiency

46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency

Congenital Adrenal Hyperplasia Due to 17 Alpha-Hydroxylase Deficiency

17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency

Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency

17-Alpha-Hydroxylase/17,20-Lyase Deficiency

17 Alpha-Hydroxylase/17,20-Lyase Deficiency

Adrenal Hyperplasia, Congenital, Type 5

Congenital Adrenal Hyperplasia Type 5

17 Alpha Hydroxylase Deficiency

Adrenal Hyperplasia Type V

Adrenal Hyperplasia 5

Ah-V

Ah5

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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

肾上腺增生，先天性，17-α-羟化酶缺乏症，也称为先天性肾上腺增生17-α-羟化酶缺乏症，与康纳综合征和脂质性先天性肾上腺增生有关。与肾上腺增生，先天性，17-α-羟化酶缺乏症相关的基因是CYP17A1（细胞色素P450家族17亚家族A成员1），其相关通路/超级通路包括细胞色素P450氧化和胎儿雄激素合成的替代途径。附属组织包括睾丸和子宫，相关表型为高血压和延迟骨骼成熟。

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