KEGG   DISEASE: Disordered steroidogenesis due to cytochrome P450 oxidoreductase
Entry
H02315                      Disease                                
Name
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
  Supergrp
Congenital adrenal hyperplasia [DS:H00216]
46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
Male hypogonadism [DS:H02027]
Description
Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A71  Adrenogenital disorders
     H02315  Disordered steroidogenesis due to cytochrome P450 oxidoreductase
Gene
POR [HSA:5447] [KO:K00327]
Other DBs
ICD-11: 5A71.01
MeSH: D054882
OMIM: 613571
Reference
PMID:14758361
  Authors
Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL
  Title
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
  Journal
Nat Genet 36:228-30 (2004)
DOI:10.1038/ng1300
Reference
PMID:18559916
  Authors
Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL
  Title
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
  Journal
J Clin Endocrinol Metab 93:3584-8 (2008)
DOI:10.1210/jc.2008-0051
Reference
PMID:20301592
  Authors
Idkowiak J, Cragun D, Hopkin RJ, Arlt W
  Title
Cytochrome P450 Oxidoreductase Deficiency
  Journal
GeneReviews (1993)
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