Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva(来自ICD-11)
别称:
Myositis Ossificans Progressiva
Progressive Myositis Ossificans
Fop
Myositis Ossificans
Progressive Ossifying Myositis
Stone Man Syndrome
Man of Stone
Acvr1-Related Fibrodysplasia Ossificans Progressiva
Myositis Ossificans Progressiva, Site Unspecified
Fop - [fibrodysplasia Ossificans Progressiva]
Progressive Myositis Ossificans Calcification
Diffuse Progressive Ossifying Polymyositis
Fibrodysplasia Ossificans Congenita
Myositis Ossificans Progressive
Münchmeyer Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibrodysplasia Ossificans Progressiva, also known as myositis ossificans progressiva, is related to osseous heteroplasia, progressive and ankylosis. An important gene associated with Fibrodysplasia Ossificans Progressiva is ACVR1 (Activin A Receptor Type 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Pharmaceutical Solutions and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related phenotypes are abnormal vertebral morphology and spinal rigidity
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相关ID:
MESH:D009221
ICD11:2102976705

基础信息

遗传方式
发病时间
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参考文献
MALACARDS
AD
Child
<1/1000000
32
350
69

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靶点药物

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MGI
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