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Summary
P450 OXIREDUCTASE DEFICIENCY
PORD
201750
OMIM = Online Medalian Inheritance of Men
418
7q11.2
very rare autosomal recessive Individuals with an Antley-Bixler Syndrome (ABS)-like phenotype ... and ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency [Huang N et al. 2005]
symptoms
genitalia, ambigous
polycystic ovaries
virilisation
laboratory finding
17-Hydroxy-Progesteron increased/normalblood
Literature
Temple IKShield JPHTransient neonatal diabetes, a disorder of imprintingJ Med Genet390872-8752002
Levy-Lahad Eet al.Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndromeJ Pediatr1384577-5802001
Bassuny WMet al.A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetesImmunogenetics553149-1562003
Turkmen Met al.Transient neonatal diabetes mellitus: a patient reportJ Pediatr Endocrinol Metab1671057-10592003
Bassuny WMet al.A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetesImmunogenetics553149-1562003
Wildin RSet al.X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyNat Genet27118-202001