KEGG   NETWORK: N00810
Entry
N00810                      Network                                

Name
HSD3B7 deficiency in bile acid biosynthesis
Definition
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7*
  Expanded
C00187 -- (1581,9420,51302) >> 80270v1
Class
nt06022 Bile acid biosynthesis
Type
Variant
Disease
H00628  Congenital bile acid synthesis defect
Gene
1581  CYP7A1; cytochrome P450 family 7 subfamily A member 1
9420  CYP7B1; cytochrome P450 family 7 subfamily B member 1
51302  CYP39A1; cytochrome P450 family 39 subfamily A member 1
80270  HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Variant
80270v1 (HSD3B7*)  HSD3B7 deficiency
Metabolite
C00187  Cholesterol
Reference
  Authors
Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW
  Title
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.
  Journal
J Clin Endocrinol Metab 88:1833-41 (2003)
DOI:10.1210/jc.2002-021580
LinkDB

DBGET integrated database retrieval system