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

Alias:
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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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency, also known as 3 beta-hydroxysteroid dehydrogenase deficiency, is related to 3-beta-hydroxysteroid dehydrogenase deficiency and acth-independent macronodular adrenal hyperplasia 2. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency is HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2). Affiliated tissues include adrenal gland and testis, and related phenotypes are congenital adrenal hyperplasia and hypotension
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
1
20

Medical Symptom

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Gene & Mutation

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References Literature

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