Details of Disease

General Information of Disease (ID: DISEY9EM)

Disease Name Diaphyseal medullary stenosis-bone malignancy syndrome
Synonyms
BDMF; myopathy, limb-girdle, with bone fragility; bone dysplasia with malignant fibrous histiocytoma; diaphyseal medullary stenosis with malignant fibrous histiocytoma; bone dysplasia with medullary fibrosarcoma; DMSMFH; diaphyseal medullary stenosis-bone malignancy syndrome; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; DMS-MFH; Hardcastle's syndrome; Hardcastle syndrome
Definition
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).
Disease Hierarchy
DISNFJES: Disorder of polyamine metabolism
DISPLTKN: Bone neoplasm
DIS8I9FS: Hereditary disorder of connective tissue
DIS5Z8U6: Skeletal dysplasia
DISEY9EM: Diaphyseal medullary stenosis-bone malignancy syndrome
Disease Identifiers
MONDO ID
MONDO_0007205
MESH ID
C536169
UMLS CUI
C1862177
OMIM ID
112250
MedGen ID
350613
Orphanet ID
85182

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MTAP TTDBX7N Strong Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MTAP DEXHBCR Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MTAP OTOWN2K9 Strong Autosomal dominant [2]
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References

1 Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.Am J Hum Genet. 2012 Apr 6;90(4):614-27. doi: 10.1016/j.ajhg.2012.02.024. Epub 2012 Mar 29.
2 Genetic profiling differentiates second primary tumors from metastases in adult metachronous soft tissue sarcoma. Sarcoma. 2008;2008:431019. doi: 10.1155/2008/431019. Epub 2009 Feb 2.