Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Preferred Label : Diaphyseal medullary stenosis with malignant fibrous histiocytoma;

Symbol : DMSMFH;

CISMeF acronym : BDMF; DMSMFH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BDMF; Bone dysplasia with medullary fibrosarcoma; Myopathy, limb-girdle, with bone fragility; Bone dysplasia with malignant fibrous histiocytoma;

Description : Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the methylthioadenosine phosphorylase gene (MTAP, 156540.0001);

Neoplasia : Malignant fibrous histiocytoma (in about 35% of patients); Osteosarcoma; Fibrosarcoma;

Laboratory abnormalities : Serum alkaline phosphatase normal or mildly increased; Serum creatine kinase normal or mildly increased;

Prefixed ID : #112250;

Détails

Origin ID

112250;

UMLS CUI

C1862177;

Automatic exact mappings (from CISMeF team)
- MTAP wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Diaphyseal medullary stenosis with bone malignancy (disorder) [SNOMED CT concept]
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH concept]
- Diaphyseal medullary stenosis-bone malignancy syndrome [ORDO Disease]
- Hardcastle's Syndrome [NCIt concept]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [DO Concept]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH Supplementary Concept]
- myopathy, limb-girdle, with bone fragility [MeSH concept]
- myopathy, limb-girdle, with bone fragility [MeSH Supplementary Concept]
DO Cross reference
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [DO Concept]
Genes related to phenotype
- Methylthioadenosine phosphorylase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the legs [HPO term]
- Bruising susceptibility [HPO term]
- Diaphyseal cortical sclerosis [HPO term]
- Fibrosarcoma [HPO term]
- Fractures of the long bones [HPO term]
- Histiocytoma [HPO term]
- Limb muscle weakness [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Metaphyseal striations [HPO term]
- Myopathy [HPO term]
- Osteomyelitis leading to amputation due to slow healing fractures [HPO term]
- Osteopenia [HPO term]
- Osteosarcoma [HPO term]
- Patchy osteosclerosis [HPO term]
- Pathologic fracture [HPO term]
- Premature graying of hair [HPO term]
- Presenile cataracts [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Soft skin [HPO term]
- Stenosis of the medullary cavity of the long bones [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- Diaphyseal medullary stenosis-bone malignancy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH concept]
- Hardcastle's Syndrome [NCIt concept]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH Supplementary Concept]

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