Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disordered steroidogenesis due to POR deficiency

Mutations of the POR gene cause a variable degree of clinical symptoms due to impaired steroidogenesis. Additionally metabolic disorder in detoxication and drug metabolism are observed.

Systematic

Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
POR
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency

References:

1.

Hershkovitz E et al. (2008) Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

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2.

Biason-Lauber A et al. (1997) A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.

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3.

Flück CE et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

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4.

Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

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5.

Peterson RE et al. (1985) Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.

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6.

Arlt W et al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

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7.

Sakaguchi M et al. (1984) Signal recognition particle is required for co-translational insertion of cytochrome P-450 into microsomal membranes.

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8.

Shackleton C et al. (2004) Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.

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9.

Williamson L et al. (2006) Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

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10.

OMIM.ORG article

Omim 613571 [^]
Update: April 29, 2019