Hypophosphatasia, Adult (HPPA)

Hypophosphatasia, Adult(来自ICD-11)
别称:
Adult Hypophosphatasia
Odontohypophosphatasia
Hypophosphatasia, Mild
Hypophosphatasia
Hppa
Adult Phosphoethanolaminuria
Mild Hypophosphatasia
Adult Rathbun Disease
Hops
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypophosphatasia, Adult, also known as adult hypophosphatasia, is related to hypophosphatasia, infantile and hypophosphatasia, childhood. An important gene associated with Hypophosphatasia, Adult is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Bortezomib and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are carious teeth and rickets
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基础信息

遗传方式
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参考文献
MALACARDS
AR
AD
Adult
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9
57
34

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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MGI
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