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

hyperparathyroidism 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperparathyroidism 4

MONDO:0024570

Also known as:GCM2 familial isolated hyperparathyroidismfamilial isolated hyperparathyroidism caused by mutation in GCM2hyperparathyroidism type 4

Overview

Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.

GeneticsAutosomal dominant · GCM2 (chr 6)

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: Primary hyperparathyroidism and Hypercalcemia; and sometimes findings: Mild bone density loss (osteopenia), Parathyroid carcinoma, and Nephrolithiasis.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Mild bone density loss (osteopenia)

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.

GCM2 encodes glial cells missing transcription factor 2 (506 aa). Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development Highest expression in Testis (1.4 TPM) and Brain Cerebellum (0.1 TPM).

Hyperparathyroidism 4 is associated with mutations in the GCM2 gene on chromosome 6.

GCM2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for GCM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperparathyroidism 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 hyperparathyroidism 4.

255 publications have been identified in PubMed for hyperparathyroidism 4. Research spans Review / Meta-Analysis (30%), Epidemiology / Natural History (21%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Research summaries	64	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617343

GARD

Genetic and Rare Diseases Info Center

GARD:18256

Questions for Your Care Team

→Should I pursue genetic testing for GCM2, and what would the results mean for my family?
→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

hyperparathyroidism 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyperparathyroidism 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications