Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

Alias:

Nakajo-Nishimura Syndrome

Jmp Syndrome

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Nkjo

Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy

Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms

Nakajo Syndrome

Praas1

Candle

Aldd

Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy

Japanese Autoinflammatory Syndrome with Lipodystrophy

Secondary Hypertrophic Osteoperiostosis with Pernio

Nodular Erythema with Digital Changes

Inflammation

Jasl

Nns

Favorite

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

泛素蛋白酶体相关自体炎症综合征1，也称为中岛-西村综合征，与脱发和家族性地中海热有关，症状包括消化不良、脑膜炎和多饮。泛素蛋白酶体相关自体炎症综合征1的一个重要相关基因是PSMB8（泛素蛋白酶体20S亚基β8），其相关通路/超级通路包括先天免疫系统和ERK信号通路。在该疾病的背景下，阿莫西林和甲醛已被提及。相关组织包括皮肤和肝脏，相关表型包括屈曲挛缩和脂肪营养不良。

Related ID：

MALACARDS：PRT133

OMIM：256040

MESH：D007249