Neuropathy, Hereditary Sensory and Autonomic, Type Vii (HSAN7)

遗传性感觉和自主神经病7型(来自ICD-11)

别称:

Hereditary Sensory and Autonomic Neuropathy Type 7

Hsan7

Hereditary Sensory and Autonomic Neuropathy Type Vii

Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction

Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction

Hsan with Hyperhidrosis and Gastrointestinal Dysfunction

Cip with Hyperhidrosis and Gastrointestinal Dysfunction

Hsan Vii

Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis

Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis

Neuropathy, Sensory and Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory and Autonomic, 7

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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

遗传性感觉自主神经病，类型VII，又称遗传性感觉自主神经病7型，与自主神经病和神经病有关，症状包括便秘、腹泻和瘙痒。与遗传性感觉自主神经病，类型VII有关的重要基因是SCN11A（钠电压门控通道α亚基11），其相关通路/超级通路包括阶段0-快速去极化和L1和Ankyrins之间的相互作用。附属组织包括骨和皮肤，相关表型为肌肉无力和运动延迟。

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