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

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency, also known as congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, is related to conn's syndrome and lipoid congenital adrenal hyperplasia. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency is CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1), and among its related pathways/superpathways are Oxidation by cytochrome P450 and Alternative pathway of fetal androgen synthesis. Affiliated tissues include testes and uterus, and related phenotypes are hypertension and delayed skeletal maturation

Related ID：

MALACARDS：ADR052

OMIM：202110

MESH：D000312