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

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

Links to relevant human diseases in MONDO:

• MONDO:0013400: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

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:
Nile tilapia (Oreochromis niloticus)
rabbit (Oryctolagus cuniculus)