Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus (WRS)

多发性骨骺发育不良伴早发性糖尿病(来自ICD-11)

别称:

Wolcott-Rallison Syndrome

Wrs

Early-Onset Diabetes Mellitus with Multiple Epiphyseal Dysplasia

Med-Iddm Syndrome

Iddm-Med Syndrome

Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus

Wolcott-Rallison Dysplasia

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus，也被称为Wolcott-Rallison综合征，与糖尿病、酮症倾向和新生儿糖尿病有关。与Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus相关的基因是EIF2AK3（Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3），其相关通路/超级通路包括细胞刺激反应和Toll样受体信号通路。在该疾病的背景下提到了Autoantibodies和Immunoglobulins药物。相关组织包括骨和肝，相关表型为骨骼发育不良和矮小。

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