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melorheostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

melorheostosis

MONDO:0007970

Also known as:melorheostosis, isolated, somatic mosaicMelmelorheostosis, isolated

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Overview

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

GeneticsSporadic (not inherited) · MAP2K1 (chr 15)

Clinical Trials1 registered

Patient Orgs1 organizations · Melorheostosis Association

Clinical Presentation

Features include: Hyperostosis, Melorheostosis, and Increased bone density (increased bone mineral density).

Organ System	Phenotype Count	Example Features
Bones and joints	1	Increased bone density (increased bone mineral density)

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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.

MAP2K1 encodes mitogen-activated protein kinase kinase 1 (393 aa). Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Highest expression in Cells EBV-transformed lymphocytes (99.1 TPM) and Brain Cerebellar Hemisphere (89.3 TPM).

Melorheostosis is associated with mutations in the MAP2K1 gene on chromosome 15.

The MAP2K1 protein participates in MAP2K1 L42_K57del and MAP2K1 and MAP2K2 mutants pathways.

MAP2K1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, Nuclear Hormone Receptor, and Serine Threonine Kinase categories) with score 1.3.

Diagnosis

Genetic testing for MAP2K1 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

35 publications have been identified in PubMed for melorheostosis. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (11%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	25	71%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Melorheostosis AssociationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:155950

Orphanet

European rare disease database

Orphanet:2485

GARD

Genetic and Rare Diseases Info Center

GARD:9474

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for MAP2K1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Melorheostosis Association and other patient organizations for support?

← Back to All Diseases

Kisho

melorheostosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Extensive melorheostosis of the upper extremity: Evaluation of disease activity with (99m)Tc-MDP bone scintigraphy.

melorheostosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Extensive melorheostosis of the upper extremity: Evaluation of disease activity with (99m)Tc-MDP bone scintigraphy.