glucocorticoid deficiency 4
Findings
No curated finding names glucocorticoid deficiency 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.
Definition from the Mondo Disease Ontology (MONDO:0013874), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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
- 15 of 15 reported patients
- Increased circulating ACTH levelHPOHP:0003154
- 15 of 15 reported patients
- Abnormal circulating aldosterone concentrationHPOHP:0040085
- 0 of 15 reported patients
- Abnormal circulating renin concentrationHPOHP:0040084
- 0 of 15 reported patients
- HyperkalemiaHPOHP:0002153
- 0 of 15 reported patients
- HyponatremiaHPOHP:0002902
- 0 of 15 reported patients
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.
- NNTHGNC:7863
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: glucocorticoid deficiency 4
- Also called
- familial glucocorticoid deficiency caused by mutation in NNTglucocorticoid deficiency 4, with or without mineralocorticoid deficiencyglucocorticoid deficiency type 4NNT familial glucocorticoid deficiency