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glucocorticoid deficiency 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glucocorticoid deficiency 2

MONDO:0011826

Also known as:MRAP familial glucocorticoid deficiencyfamilial glucocorticoid deficiency caused by mutation in MRAPglucocorticoid deficiency type 2

Overview

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

GeneticsAutosomal recessive · MRAP (chr 21)

ResearchLimited published research (5 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: Microcephaly, Increased circulating ACTH level, Profound intellectual disability, and Spastic tetraparesis and others; and common findings: Achalasia and Alacrima. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Profound intellectual disability, Spastic tetraparesis, Myoclonic seizure

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.

MRAP encodes melanocortin 2 receptor accessory protein (172 aa). Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Highest expression in Adrenal Gland (42.6 TPM) and Adipose Visceral Omentum (13.0 TPM).

Glucocorticoid deficiency 2 is associated with mutations in the MRAP gene on chromosome 21.

MRAP is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 16 always present features, 2 common 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 2.

5 publications have been identified in PubMed for glucocorticoid deficiency 2. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Wang X (2025). [PMID: 40726908](https://pubmed.ncbi.nlm.nih.gov/40726908/). *Frontiers in pediatrics*. [Case Report / Case Series]
Shu WJ (2025). [PMID: 40090922](https://pubmed.ncbi.nlm.nih.gov/40090922/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Maleknejad S (2024). [PMID: 39135905](https://pubmed.ncbi.nlm.nih.gov/39135905/). *International journal of endocrinology*. [Case Report / Case Series]
Friedman HR (2024). [PMID: 39386648](https://pubmed.ncbi.nlm.nih.gov/39386648/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Kurt I (2024). [PMID: 38796770](https://pubmed.ncbi.nlm.nih.gov/38796770/). *Clinical endocrinology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607398

GARD

Genetic and Rare Diseases Info Center

GARD:15412

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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