Niemann-Pick Disease, Type C1 (NPC1)

Alias:

Niemann-Pick Disease, Type C

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C

Npc1

Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

Niemann-Pick Disease with Cholesterol Esterification Block

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease, Subacute Juvenile Form

Niemann-Pick Disease Type C1

Niemann-Pick Disease Type D

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

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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C1型，也称为尼曼-皮克病C型，与尼曼-皮克病C型、青少年神经性发作和尼曼-皮克病C型、成人神经性发作有关，症状包括小脑共济失调、肌肉痉挛和癫痫发作。与尼曼-皮克病C1型有关的重要基因是NPC1（NPC细胞内胆固醇转运蛋白1），其相关通路/超级通路包括神经科学和胆固醇代谢。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。相关组织包括眼睛和骨髓，相关表型为步态障碍和吞咽困难。

Related ID：

MALACARDS：NMN015

OMIM：257220

MESH：D052556