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中文Hypophosphatasia, Adult (HPPA)
Alias:
Adult Hypophosphatasia
Odontohypophosphatasia
Hypophosphatasia, Mild
Hypophosphatasia
Hppa
Adult Phosphoethanolaminuria
Mild Hypophosphatasia
Adult Rathbun Disease
Hops
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低磷酸酯酶症成人型，又称成人低磷酸酯酶症，与婴儿低磷酸酯酶症和儿童低磷酸酯酶症有关。与成人低磷酸酯酶症相关的基因是ALPL（碱性磷酸酶，生物矿化相关），其相关通路/超级通路包括软骨内骨化与骨骼发育不良和间充质干细胞与特异性标记物。在该疾病的背景下，已提到过硼替佐米和利妥昔单抗。附属组织包括骨和肝，相关表型为龋齿和佝偻病
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Basic Information
Inheritance
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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
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MGI
Related Gene
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References Literature
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