Metaphyseal Anadysplasia

Metaphyseal Anadysplasia(来自ICD-11)
别称:
Maroteaux-Verloes-Stanescu Syndrome
Regressive Metaphyseal Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Metaphyseal Anadysplasia, also known as maroteaux-verloes-stanescu syndrome, is related to scoliosis and metaphyseal anadysplasia 2. An important gene associated with Metaphyseal Anadysplasia is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone, and related phenotypes are bowing of the long bones and joint stiffness
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基础信息

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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
2
20
--

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MGI
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