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

diaphyseal medullary stenosis-bone malignancy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diaphyseal medullary stenosis-bone malignancy syndrome

MONDO:0007205

Also known as:DMS-MFHHardcastle syndromeHardcastle's syndrome

Overview

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

GeneticsAutosomal dominant · MTAP (chr 9)

OnsetLATE

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 sometimes findings: Myopathy, Bruising susceptibility, Soft skin, and Premature graying of hair and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Skeletal muscle atrophy, Patchy osteosclerosis, Osteomyelitis leading to amputation due to slow healing fractures

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.

MTAP encodes methylthioadenosine phosphorylase (283 aa). Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Highest expression in Cells Cultured fibroblasts (11.3 TPM) and Nerve Tibial (9.8 TPM).

Diaphyseal medullary stenosis-bone malignancy syndrome has been associated with mutations in the MTAP gene on chromosome 9.

The MTAP protein participates in Expression of S-methyl-5'-thioadenosine phosphorylase and Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation pathways.

MTAP is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 17.4.

Diagnosis

Genetic testing for MTAP is available. Testing is considered supportive for diagnosis.

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112250

Orphanet

European rare disease database

Orphanet:85182

GARD

Genetic and Rare Diseases Info Center

GARD:10072

Questions for Your Care Team

→Should I pursue genetic testing for MTAP, 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

diaphyseal medullary stenosis-bone malignancy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features