KEGG   VARIANT: 80270v1
Entry
80270v1                      Variant                               
Name
HSD3B7 deficiency
Type
Loss of function
Gene
HSD3B7  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [KO:K12408]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607764
Network
nt06022  Bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Reference
PMID:12679481
  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
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