OMIA:000017 : Adrenal insufficiency, congenital, CYP11A1-related

Categories: Reproductive system phene , Endocrine / exocrine gland phene (incl mammary gland)

Possible human homologues (MIM numbers): 118485 (gene) , 613743 (trait)

Links to MONDO diseases:

Cross-species summary: This is a type of XY difference of sexual development (XY DSD). This disorder results from a buildup of cholesterol in the adrenal cortex, which in turn results from a deficiency of the enzyme responsible for converting cholesterol into pregnenolone. The enzyme is cytochrome P450scc or P45011A. Renamed from 'Adrenal hyperplasia, congenital' [29/09/2023]

Species in which this phene is found:
rabbit (Oryctolagus cuniculus)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 10 Jul 2021
  • Changed by Imke Tammen2 on 25 Sep 2021
  • Changed by Imke Tammen2 on 23 Jan 2023
  • Changed by Imke Tammen2 on 29 Sep 2023