familial glucocorticoid deficiency
Findings
No curated finding names familial glucocorticoid deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
Definition from the Mondo Disease Ontology (MONDO:0008733), read 2026-09-29. CC BY 4.0.
Features
35 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.
- Adrenal insufficiencyHPOHP:0000846
- Obligate (100% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Obligate (100% of cases)
- Abnormal circulating adrenocorticotropin concentrationHPOHP:0011043
- Very frequent (80% to 99% of cases)
- Decreased circulating dehydroepiandrosterone concentrationHPOHP:0031214
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- Very frequent (80% to 99% of cases)
- Impaired cortisol response to insulin stimulation testHPOHP:0031076
- Very frequent (80% to 99% of cases)
- Ketotic hypoglycemiaHPOHP:0012734
- Very frequent (80% to 99% of cases)
- AnorexiaHPOHP:0002039
- Frequent (30% to 79% of cases)
- Chronic fatigueHPOHP:0012432
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
Reported absent (1)
- AutoimmunityHPOHP:0002960
Show the remaining 23
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Episodic abdominal painHPOHP:0002574
- Frequent (30% to 79% of cases)
- HyperkalemiaHPOHP:0002153
- Frequent (30% to 79% of cases)
- HypernatriuriaHPOHP:0012605
- Frequent (30% to 79% of cases)
- Hypoglycemic seizuresHPOHP:0002173
- Frequent (30% to 79% of cases)
- HyponatremiaHPOHP:0002902
- Frequent (30% to 79% of cases)
Genes
4 genes
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.