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X-linked adrenal hypoplasia congenita
rareA 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.
- Identifiers
- MONDO:0010264 OMIM:300200Orphanet:95702
- Causal genes
- NR0B1
- Part of
- X-linked diseaseAlternating hemiplegia of childhoodChronic primary adrenal insufficiencyCongenital hypogonadotropic hypogonadismCongenital nervous system disorder
- Also known as
- adrenal hypoplasia, congenital · adrenal hypoplasia, congenital, X-linked recessive · X-linked AHC · X-linked congenital adrenal hypoplasia
Subtypes
| Disease | Subtypes |
|---|---|
| Adrenal hypoplasia, cytomegalic type |
Rare disease
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