Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia (EAOH)

Alias:

Aoa1

Ataxia-Telangiectasia-Like Disorder

Ataxia with Oculomotor Apraxia Type 1

Eoca-Ha

Eaoh

Ataxia-Oculomotor Apraxia Syndrome

Ataxia-Oculomotor Apraxia Type 1

Ataxia with Oculomotor Apraxia

Ataxia-Oculomotor Apraxia 1

Aoa

Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia

Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia

Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia

Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Cerebellar Ataxia Early-Onset with Hypoalbuminemia

Spinocerebellar Ataxia, Autosomal Recessive 1

Adult Onset Ataxia with Oculomotor Apraxia

Ataxia-Telangiectasia-Like Syndrome

Ataxia Oculomotor Apraxia Type 1

Ataxia-Oculomotor Apraxia

Scan2

Scar1

Atld

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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

AOA1（Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia）是一种与小脑共济失调、眼动性运动障碍和低白蛋白血症有关的疾病，也与青少年型肌萎缩侧索硬化症有关。其症状包括小脑共济失调、震颤和肌肉无力。AOA1相关的基因包括APTX（Aprataxin），其相关通路/超通路包括端粒末端包装和同源导向修复。在该疾病的背景下，已提到的药物包括乙醇和卵磷脂。相关组织包括眼睛和皮肤，相关表型包括共济失调和步态障碍。

Related ID：

MALACARDS：ATX029

OMIM：208920

MESH：D001072