Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (AH2)

3-β-羟化类固醇脱氢酶2缺乏性先天性肾上腺增生(来自ICD-11)

别称:

3 Beta-Hydroxysteroid Dehydrogenase Deficiency

3-Beta-Hsd Deficiency

Adrenal Hyperplasia 2

Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency

Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Congenital Adrenal Hyperplasia Due to 3 Beta-Hydroxysteroid Dehydrogenase Deficiency

Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency

Adrenal Hyperplasia Type Ii

Adrenal Hyperplasia Ii

Ah-Ii

Hsdb

Ah2

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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，由于3-β-羟类固醇脱氢酶2缺乏，也称为3-β-羟类固醇脱氢酶缺乏，与3-β-羟类固醇脱氢酶缺乏和ACTH独立性大结节性肾上腺增生2有关。与先天性肾上腺增生，由于3-β-羟类固醇脱氢酶2缺乏有关的重要基因是HSD3B2（羟基-δ-5类固醇脱氢酶，3β-和类固醇δ-异构酶2）。附属组织包括肾上腺和睾丸，相关表型为先天性肾上腺增生和低血压。

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