DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Question 1

What is  DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutations in the POR gene
also result in a form of Antley-Bixler syndrome (201750)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613571

Question 4

Which enzymes are involved?

Accepted Answer

NADPH--cytochrome P450 reductase

Disease	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
Synonym	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
OMIM	613571 OMIM = Online Mendelian Inheritance of Men
Orphanet	95699
Protein (UniProt)	NADPH--cytochrome P450 reductase
ExPASy	1.6.2.4
Gene locus	7q11.23
ICD	E25.0
Summary	rare autosomal recessive mutations in the POR gene also result in a form of Antley-Bixler syndrome (201750)
Laboratory findings	17-Hydroxyprogesterone inc (plasma) Adrenal androgens (DHEAS, androstenedione) inc (plasma)
Symptoms	genitalia, ambigous onset, infancy onset, neonatal skeletal changes, skeletal abnormalities virilisation