46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

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CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.
Aliases
  • 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome
  • adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete
  • cholesterol side-chain Cleavage deficiency
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p450scc deficiency
  • XY sex reversal - adrenal failure
  • XY sex reversal-adrenal failure
  • XY sex reversal-adrenal failure syndrome