KEGG   NETWORK: N00764
Entry
N00764                      Network                                

Name
CYP11A1 deficiency in steroid hormone biosynthesis
Definition
Cholesterol -- CYP11A1* // Pregnenolone -- HSD3B1/2 -> Progesterone
  Expanded
C00187 -- 1583v1 // C01953 -- (3283,3284) -> C00410
Class
nt06019 Steroid hormone biosynthesis
Type
Variant
Disease
H02314  Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Gene
1583  CYP11A1; cytochrome P450 family 11 subfamily A member 1
3283  HSD3B1; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
3284  HSD3B2; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Variant
1583v1 (CYP11A1*)  CYP11A1 deficiency
Metabolite
C00187  Cholesterol
C01953  Pregnenolone
C00410  Progesterone
Reference
  Authors
al Kandari H, Katsumata N, Alexander S, Rasoul MA
  Title
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
  Journal
J Clin Endocrinol Metab 91:2821-6 (2006)
DOI:10.1210/jc.2005-2230
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