glucocorticoid deficiency 1
Findings
No curated finding names glucocorticoid deficiency 1 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 MC2R gene.
Definition from the Mondo Disease Ontology (MONDO:0024536), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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.
- Abnormal response to ACTH stimulation testHPOHP:0031074
- 1 of 1 reported patient
- ComaHPOHP:0001259
- 1 of 1 reported patient
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 1 reported patient
- Generalized hyperpigmentationHPOHP:0007440
- 1 of 1 reported patient · Congenital onset
- Increased circulating ACTH levelHPOHP:0003154
- 1 of 1 reported patient
- Recurrent hypoglycemiaHPOHP:0001988
- 1 of 1 reported patient
- Abnormal circulating aldosterone concentration
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.
- MC2RHGNC:6930
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: glucocorticoid deficiency 1
- Also called
- familial glucocorticoid deficiency caused by mutation in MC2Rglucocorticoid deficiency, due to ACTH unresponsivenessMC2R familial glucocorticoid deficiency