Details of Disease

General Information of Disease (ID: DIS3HGIB)

• Disease Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Synonyms: disordered steroidogenesis due to POR deficiency; disordered steroidogenesis due to cytochrome P450 oxidoreductase; disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency; adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency; POR deficiency; PORD; congenital adrenal hyperplasia due to cytochrome POR deficiency
• Definition: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
• Disease Hierarchy:
  DIS7W23Z: Reproductive system disorder
  DISG873W: Congenital adrenal hyperplasia
  DIS3HGIB: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013310
  MESH ID: D054882
  UMLS CUI: C1860042
  OMIM ID: 613571
  MedGen ID: 348008
  Orphanet ID: 95699
  SNOMED CT ID: 715733000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP26A1	TTD7Q0R	Strong	Biomarker	[1]
FGFR2	TTGJVQM	Strong	Genetic Variation	[2]
POR	TTOQ9GZ	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
POR	DE3N2FM	Strong	Autosomal recessive	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POR	OTVIDOCH	Strong	Autosomal recessive	[4]
STATH	OTQHBHM9	Strong	Genetic Variation	[5]

References

• [1] Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.Mol Genet Metab. 2010 Jul;100(3):269-73. doi: 10.1016/j.ymgme.2010.03.023. Epub 2010 Apr 3.
• [2] Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.Am J Hum Genet. 2005 May;76(5):729-49. doi: 10.1086/429417. Epub 2005 Mar 25.
• [3] Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency.J Steroid Biochem Mol Biol. 2018 Apr;178:177-184. doi: 10.1016/j.jsbmb.2017.12.008. Epub 2017 Dec 28.
• [4] Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. Mol Cell Biol. 2003 Sep;23(17):6103-16. doi: 10.1128/MCB.23.17.6103-6116.2003.
• [5] Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously.J Assist Reprod Genet. 2009 May;26(5):263-71. doi: 10.1007/s10815-009-9327-5. Epub 2009 Jul 21.