glucocorticoid deficiency 2
Findings
No curated finding names glucocorticoid deficiency 2 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 MRAP gene.
Definition from the Mondo Disease Ontology (MONDO:0011826), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
19 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.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Decreased circulating cortisol levelHPOHP:0008163
- 2 of 2 reported patients
- Focal motor seizureHPOHP:0011153
- 1 of 1 reported patient
- Hyperpigmentation of the skinHPOHP:0000953
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Increased circulating ACTH levelHPOHP:0003154
Show the remaining 7
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- AchalasiaHPOHP:0002571
- 1 of 2 reported patients
- AlacrimaHPOHP:0000522
- 1 of 2 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.
- MRAPHGNC:1304
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: glucocorticoid deficiency 2
- Also called
- familial glucocorticoid deficiency caused by mutation in MRAPglucocorticoid deficiency type 2MRAP familial glucocorticoid deficiency