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Summary
P450 OXIREDUCTASE DEFICIENCY
PORD
201750
OMIM = Online Medalian Inheritance of Men
63269
7q11.23
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
adrenal insufficiency
arachnodyctyly
clitoral hypertrophy
craniostenosis
cryptorchism
genitalia, ambigous
hydronephrosis
hypertelorism
hypospadia
microcephaly
micropenis
oligohydramnion (maternal)
polycystic ovaries
scoliosis
virilisation
laboratory finding
17-Hydroxy-Progesterone normal-increasedplasma
17-Hydroxypregnenolone normal-increasedplasma
Adrenocorticotropic hormone (ACTH) normal-increasedplasma
Adrenal androgens (DHEAS, androstenedione) normal-decreasedplasma
Literature
Temple IKShield JPHTransient neonatal diabetes, a disorder of imprintingJ Med Genet390872-8752002
Carrozzo R,et al.SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessBrain1303862-8742007
Cho JM,et al.Chronic intermittent form of isovaleric aciduria in a 2-year-old boyKorean J Pediatr568351-3542013
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
Liu Z,et al.SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literatureZhonghua Er Ke Za Zhi5211817-8212014
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