X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita
Definition
A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
Also known as adrenal hypoplasia, congenital, X-linked recessive, X-linked adrenal hypoplasia congenita, X-linked congenital adrenal hypoplasia — per MONDO
Also identified as
- DOID 0080156 per MONDO
- NCIT C123725 per MONDO
- OMIM 300200 per MONDO
- Orphanet 95702 per MONDO
- SCTID 93235007 per MONDO
- UMLS C0342482 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 |