Niemann-Pick Disease, Type a (NPDA)

尼曼-匹克病A型(来自ICD-11)

别称:

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Sphingomyelinase Deficiency

Niemann-Pick Disease Type a

Sphingomyelin Lipidosis

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Neuronopathic Type

Classical Niemann-Pick Disease

Niemann-Pick Disease Type I

Asmd, Neurovisceral Type

Niemann-Pick Disease a

Niemann-Pick Diseases

Npda

Npa

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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

尼曼-皮克病A型，也称为尼曼-皮克病中间型、持久性神经-内脏病，与尼曼-皮克病B型和尼曼-皮克病有关，症状包括便秘、呕吐和肌肉无力。与尼曼-皮克病A型相关的基因是SMPD1（鞘磷脂磷酸二酯酶1），其相关通路/超级通路包括神经科学和鞘脂代谢。在该疾病的背景下，已提到的药物有米格列他汀和糖苷水解抑制剂。相关组织包括骨髓和肝脏，相关表型为发育迟缓和发育退化。

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