Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
PORD
POR deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
Number of Symptoms 4
OrphanetNr: 95699
OMIM Id: 613571
ICD-10: E25.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XX disorder of sex development induced by fetal androgens excess
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
Congenital adrenal hyperplasia
 -Rare endocrine disease
 -Rare genetic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000062) Ambiguous genitalia 74 / 7739
2
(HPO:0003154) Increased circulating ACTH level 8 / 7739
3
(HPO:0008258) Congenital adrenal hyperplasia 3 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM In a 6-month-old 46,XY infant with a female phenotype and ambiguous genitalia, Peterson et al. (1985) found an unusual pattern of plasma and urinary steroids indicating that the child had multiple abnormalities of steroid-biosynthetic microsomal mixed-function oxidases: 21-hydroxylase, ...
Molecular genetics OMIM In a phenotypically normal woman with amenorrhea and disordered steroidogenesis, Fluck et al. (2004) found compound heterozygosity for mutations in the POR gene (124015.0003-124015.0004). Fluck et al. (2004) hypothesized that milder mutations in POR may manifest as mild ...
Diagnosis GeneReviews Cytochrome P450 oxidoreductase (POR) deficiency describes a group of allelic conditions characterized by disordered steroidogenesis. These conditions form a broad phenotypic spectrum ranging from apparently healthy infants identified with 21-hydroxylase deficiency on newborn screening or whose mothers were virilized during pregnancy to classic Antley-Bixler syndrome (ABS), which is characterized by the following severe congenital craniofacial and skeletal anomalies:...
Clinical Description GeneReviews The natural history of cytochrome P450 oxidoreductase (POR) deficiency varies because it encompasses a wide phenotypic spectrum. However, steroid abnormalities, which occur in all individuals with POR deficiency, can be associated with a number of characteristics: ...
Genotype-Phenotype Correlations GeneReviews Although individuals with the same mutations (even siblings) can show phenotypic variations, some commonalities are observed among individuals with the same genotype. ...
Differential Diagnosis GeneReviews Congenital adrenal hyperplasia (CAH) is a heterogeneous group of conditions that result in impaired synthesis of cortisol, mineralocorticoids, and/or C-19 steroids. Based on this definition, the term CAH can be used to describe cytochrome P450 oxidoreductase (POR) deficiency. POR deficiency and the following etiologies of CAH may be distinguished by differences in urinary steroid profiles, molecular genetic testing, and/or the presence of skeletal anomalies, as skeletal anomalies are never found in other forms of CAH, but may occur in POR deficiency....
Management GeneReviews To establish the extent of disease in an individual diagnosed with cytochrome P450 oxidoreductase (POR) deficiency, the following evaluations are recommended: ...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....