Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (ACPHD)

小脑及周围神经共济失调伴听力丧失和糖尿病(来自ICD-11)

别称:

Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome

Acphd

Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome

Combined Cerebellar and Peripheral Ataxia-Deafness-Diabetes Mellitus Syndrome

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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

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus（青少年糖尿病-中枢和周围神经退行性综合征）, 也被称为 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome，其症状包括步态不稳。与 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 相关的重要基因是 DNAJC3（DNAJ 热休克蛋白家族（Hsp40）成员 C3）。相关组织包括骨和脑，相关表型为糖尿病和矮小症。

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