X-linked adrenal hypoplasia congenita
Findings
No curated finding names X-linked adrenal hypoplasia congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010264), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating ACTH levelHPOHP:0003154
- Obligate (100% of cases)
- OligozoospermiaHPOHP:0000798
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- 2 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Adrenocortical cytomegalyHPOHP:0008186
- Frequent (30% to 79% of cases)
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- Frequent (30% to 79% of cases)
Show the remaining 16
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- HyperkalemiaHPOHP:0002153
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Frequent (30% to 79% of cases)
- HyponatremiaHPOHP:0002902
- Frequent (30% to 79% of cases)
- NauseaHPOHP:0002018
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR0B1HGNC:7960
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · G2P · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: X-linked adrenal hypoplasia congenita
- Also called
- adrenal hypoplasia, congenital, X-linked recessiveX-linked congenital adrenal hypoplasia