glucocorticoid deficiency 5
MONDO:0040502Mondo
Findings
No curated finding names glucocorticoid deficiency 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Decreased circulating cortisol levelHPOHP:0008163
- 7 of 7 reported patients
- Hyperpigmentation of the skinHPOHP:0000953
- 5 of 7 reported patients
- Abnormal response to ACTH stimulation testHPOHP:0031074
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.
- TXNRD2HGNC:18155
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of