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glucocorticoid deficiency 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glucocorticoid deficiency 1

MONDO:0024536

Also known as:MC2R familial glucocorticoid deficiencyfamilial glucocorticoid deficiency caused by mutation in MC2Rglucocorticoid deficiency, due to ACTH unresponsiveness

Overview

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.

GeneticsAutosomal recessive · MC2R (chr 18)

OnsetCONGENITAL

ResearchLimited published research (9 articles)

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: Increased circulating ACTH level, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, and Generalized hyperpigmentation and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Tall stature, Failure to thrive

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MC2R encodes melanocortin 2 receptor (297 aa). G protein-coupled receptor for corticotropin/ACTH, primarily expressed in adrenal cortex where it plays a key role in the regulation of adrenocortical function. Highest expression in Adrenal Gland (44.6 TPM) and Pituitary (1.1 TPM).

Glucocorticoid deficiency 1 is associated with mutations in the MC2R gene on chromosome 18.

The MC2R protein participates in Defective ACTH does not bind MCR2, CYP11B1 oxidises 11DCORT, and SRD5A1 dehydrogenates TEST to DHTEST pathways.

MC2R is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 13.1.

Diagnosis

Genetic testing for MC2R is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

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 glucocorticoid deficiency 1.

9 publications have been identified in PubMed for glucocorticoid deficiency 1. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (11%).

Recent Publications

Singhal A (2026). [PMID: 41541841](https://pubmed.ncbi.nlm.nih.gov/41541841/). *JCEM Case Rep*. [Case Report / Case Series]
Karakilic Ozturan E (2025). [PMID: 39496238](https://pubmed.ncbi.nlm.nih.gov/39496238/). *Horm Res Paediatr*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 40726908](https://pubmed.ncbi.nlm.nih.gov/40726908/). *Front Pediatr*. [Case Report / Case Series]
Bardhan M (2025). [PMID: 41002740](https://pubmed.ncbi.nlm.nih.gov/41002740/). *Diseases*. [Review / Meta-Analysis]
Sheya A (2025). [PMID: 40917321](https://pubmed.ncbi.nlm.nih.gov/40917321/). *Indian J Endocrinol Metab*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:202200

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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glucocorticoid deficiency 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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