Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Go to external page http://www.orpha.net/ORDO/Orphanet_95699


A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.

Synonyms:

POR deficiency

PORD

Congenital adrenal hyperplasia due to cytochrome POR deficiency

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
hasDbXref
  • ICD-10:E25.0
  • OMIM:613571
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:95699
part of
  • http://www.orpha.net/ORDO/Orphanet_418
  • http://www.orpha.net/ORDO/Orphanet_90786
  • http://www.orpha.net/ORDO/Orphanet_90776
present in
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_409984