CYP11A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital adrenal hypoplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Differences in sex development

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

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

  0.80

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

  0.79

• adrenal cortex carcinoma

  0.52

• Cushing syndrome

  0.49

• neoplasm

  0.49

• classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

  0.46

• congenital adrenal hyperplasia

  0.46

• inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

  0.38

• adrenal cortex neoplasm

  0.37

• adrenal gland hyperfunction

  0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)