Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Definition
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
Also known as congenital adrenal hyperplasia due to cytochrome POR deficiency, POR deficiency, PORD — per MONDO
Also identified as
- DOID 0080925 per MONDO
- NCIT C174439 per MONDO
- OMIM 613571 per MONDO
- Orphanet 95699 per MONDO
- SCTID 715733000 per MONDO
- UMLS C1860042 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Adrenal glands | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Adrenal glands | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |