Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma (DMSMFH)

Alias:
Bone Dysplasia with Malignant Fibrous Histiocytoma
Bone Dysplasia with Medullary Fibrosarcoma
Myopathy, Limb-Girdle, with Bone Fragility
Hardcastle Syndrome
Dmsmfh
Bdmf
Diaphyseal Medullary Stenosis-Malignant Fibrous Histiocytoma Syndrome
Stenosis, Medullary, Diaphyseal, with Malignant Fibrous Histiocytoma
Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome
Bone Dysplasia-Medullary Fibrosarcoma Syndrome
Limb-Girdle Myopathy with Bone Fragility
Dms-Mfh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma, also known as bone dysplasia with malignant fibrous histiocytoma, is related to diaphyseal medullary stenosis-bone malignancy syndrome and malignant fibrous histiocytoma. An important gene associated with Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma is MTAP (Methylthioadenosine Phosphorylase). Affiliated tissues include bone and skeletal muscle, and related phenotypes are myopathy and premature graying of hair
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
9
30
11

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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