Cinca Syndrome (CINCA)

Alias:

Neonatal-Onset Multisystem Inflammatory Disease

Infantile-Onset Multisystem Inflammatory Disease

Cryopyrin-Associated Periodic Syndrome 3

Prieur-Griscelli Syndrome

Iomid Syndrome

Nomid Syndrome

Cinca

Chronic Infantile Neurological, Cutaneous and Articular Syndrome

Chronic Infantile Neurological Cutaneous and Articular Syndrome

Chronic Neurologic Cutaneous and Articular Syndrome

Nomid

Caps3

Chronic Infantile Neurological, Cutaneous, and Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous and Articular Syndrome

Chronic Infantile Neurological Cutaneous Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Neonatal Onset Multisystem Inflammatory Disease

Cryopyrin-Associated Periodic Syndromes

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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

辛卡综合症，又名新生儿多系统炎症疾病，与冷凝蛋白相关周期性综合征和皮疹有关，症状包括反复发热。辛卡综合症相关的重要基因是NLRP3（NLR家族Pyrin域包含3），其相关通路/超级通路包括传染病和先天免疫系统。在该疾病的背景下提到了人参和聚卡波非钙。附属组织包括皮肤和脊髓，相关表型为恶心和呕吐和听力障碍。

Related ID：

MALACARDS：CNC002

OMIM：607115

MESH：D056587