Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial glucocorticoid deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial glucocorticoid deficiency

MONDO:0008733

Also known as:glucocorticoid deficiencyGCCD

Overview

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.

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Adrenal insufficiency and Decreased circulating cortisol level; and very common findings: Failure to thrive, Hypotension, Generalized hyperpigmentation, and Abnormal circulating adrenocorticotropin concentration and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	6	Precocious puberty, Testicular adrenal rest tumor, Congenital hypothyroidism

Prognosis

Phenotype severity distribution: 2 always present features, 7 very common features, 13 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial glucocorticoid deficiency.

52 publications have been identified in PubMed for familial glucocorticoid deficiency. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	25	48%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:361

GARD

Genetic and Rare Diseases Info Center

GARD:2498

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

familial glucocorticoid deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial glucocorticoid deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications