Achalasia-Addisonianism-Alacrima Syndrome (AAAS)

食道弛缓不能-Addison病-无泪综合征(来自ICD-11)

别称:

Allgrove Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Triple-a Syndrome

Triple a Syndrome

Aaa Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Glucocorticoid Deficiency with Achalasia

Aaas

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Glucocorticoid Deficiency and Achalasia

Alacrima-Achalasia-Addisonianism

Addisonian-Achalasia Syndrome

Hypoadrenalism with Achalasia

Achalasia-Alacrima Syndrome

Quaternary a Syndrome

Double a Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Acth-Resistant Adrenal Insufficiency with Achalasia and Alacrima

Acth-Resistant Adrenal Insufficiency, Achalasia and Alacrima

Adrenal Cortical Hypofunction

Achalasia-Addisonian Syndrome

Adrenal Gland Hypofunction

Allgrove's Syndrome

Aaa

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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

阿-阿-阿综合症，又称奥尔格罗夫综合症，与先天性神经系统异常和家族性糖皮质激素缺乏有关，症状包括共济失调和肌肉无力。与阿-阿-阿综合症有关的重要基因是AAAS（Aladin WD重复核孔蛋白），其相关通路/超级通路包括基因表达（转录）和传染病。在该疾病的背景下提到了药物肾上腺素和泼尼松。附属组织包括肾上腺和眼睛，相关表型为癫痫和阿-阿综合症。

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