Indifference to Pain, Congenital, Autosomal Recessive (CIP)

Alias:

Neuropathy, Hereditary Sensory and Autonomic, Type Iid

Asymbolia for Pain

Cip

Insensitivity to Pain, Channelopathy-Associated

Channelopathy-Associated Insensitivity to Pain

Congenital Indifference to Pain

Channelopathy-Associated Congenital Insensitivity to Pain, Autosomal Recessive

Channelopathy-Associated Congenital Insensitivity to Pain

Pain, Indifference, Congenital, Autosomal Recessive

Congenital Analgesia, Autosomal Recessive

Congenital Analgesia Autosomal Recessive

Insensitivity to Pain, Congenital

Pain Insensitivity, Congenital

Congenital Pain Indifference

Congenital Analgesia

Cip-Scn9a

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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

对疼痛的冷漠，先天性，常染色体隐性，也被称为遗传性感觉和自主神经病，类型IID，与泛发性癫痫伴有热性惊厥，类型7和遗传性感觉和自主神经病，类型IIA有关。与对疼痛的冷漠，先天性，常染色体隐性有关的重要基因是SCN9A（钠电压门控通道α亚基9）。Levobupivacaine和Ropivacaine已在这种疾病的背景下被提及。附属组织包括脊髓和舌，相关表型为疼痛不敏感和智力障碍。

Related ID：

MALACARDS：IND012

OMIM：243000

MESH：D000699