cortisone reductase deficiency 2
Findings
No curated finding names cortisone reductase deficiency 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.
Definition from the Mondo Disease Ontology (MONDO:0013842), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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.
- Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratioHPOHP:6000185
- 2 of 2 reported patients
- Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratioHPOHP:6001080
- 2 of 2 reported patients
- Acanthosis nigricansHPOHP:0000956
- 1 of 2 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 2 reported patients
- Insulin resistanceHPOHP:0000855
- 1 of 2 reported patients
- Obesity
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.
- HSD11B1HGNC:5208
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: cortisone reductase deficiency 2
- Also called
- 11-beta-hydroxysteroid dehydrogenase type 1 deficiencycortisone reductase deficiency caused by mutation in HSD11B1cortisone reductase deficiency type 2CORTRD2HSD11B1 cortisone reductase deficiency