Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

Preferred Label : Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Disordered steroidogenesis due to por deficiency; Adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency;

Description : This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 (609300) and P450C21 (613815) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see 207410) (summary by Arlt et al., 2004).;

Prefixed ID : #613571;

Details

Origin ID

613571;

UMLS CUI

C1860042;

Automatic exact mappings (from CISMeF team)
- Congenital adrenal hyperplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Antley-Bixler syndrome phenotype [MeSH Descriptor]
- Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency [NCIt concept]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ICD-11 More detail]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) [SNOMED CT concept]
- POR deficiency [MeSH concept]
- cytochrome P450 oxidoreductase deficiency [Disease (Nov.)]
DO Cross reference
- cytochrome P450 oxidoreductase deficiency [DO Concept]
Genes related to phenotype
- Cytochrome p450 oxidoreductase [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital adrenal hyperplasia [HPO term]
- Increased circulating ACTH level [HPO term]
ORDO concept(s)
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency [NCIt concept]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) [SNOMED CT concept]
- POR deficiency [MeSH concept]

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