Insensitivity to Pain, Congenital, with Anhidrosis (CIPA)

先天性痛觉不敏感合并无汗症(来自ICD-11)

别称:

Congenital Insensitivity to Pain with Anhidrosis

Hsan4

Cipa

Hereditary Sensory and Autonomic Neuropathy Type Iv

Hereditary Insensitivity to Pain with Anhidrosis

Hsan Iv

Hereditary Sensory and Autonomic Neuropathy Type 4

Neuropathy, Congenital Sensory, with Anhidrosis

Hereditary Sensory and Autonomic Neuropathy Iv

Hereditary Sensory Neuropathy Type 4

Familial Dysautonomia, Type Ii

Hsan Type Iv

Hsan4 - [hereditary Sensory and Autonomic Neuropathy Type 4]

Hereditary Sensory and Autonomic Neuropathy, Type 4

Pain Insensitivity, Congenital, with Anhidrosis

Hereditary Sensory and Autonomic Neuropathy 4

Hereditary Sensory Neuropathy Type Iv

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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

对疼痛的敏感性，先天性，伴有无汗症，也称为先天性对疼痛的无汗症，与周围神经病，遗传性感觉和自主性，类型V和遗传性感觉神经病有关。与对疼痛的敏感性，先天性，伴有无汗症有关的重要基因是NTRK1（神经生长因子受体酪氨酸激酶1），其相关通路/超级通路包括胸膜间皮瘤和NTRKs的信号传导。在该疾病的背景下提到了Verapamil和Ritonavir。附属组织包括骨和舌，相关表型为智力障碍和周围神经传导异常。

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