Blau Syndrome (BLAUS)

Alias:

Arthrocutaneouveal Granulomatosis

Sarcoidosis, Early-Onset

Jabs Syndrome

Blaus

Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial

Familial Juvenile Systemic Granulomatosis

Acug

Eos

Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis

Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies

Granulomatosis, Familial Juvenile Systemic

Granulomatosis, Familial, Blau Type

Familial Granulomatosis, Blau Type

Pediatric Granulomatous Arthritis

Familial Granulomatosis Blau Type

Early-Onset Sarcoidosis

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

Blau Syndrome,又称关节皮肤眼肉芽肿病，与葡萄膜炎和结节病有关。Blau Syndrome 与 NOD2 (Nucleotide Binding Oligomerization Domain Containing 2) 基因有关，其相关通路/超通路包括传染病和先天免疫系统。相关组织包括皮肤和眼睛，相关表型为关节疼痛和关节肿胀。

Related ID：

MALACARDS：BLS001

OMIM：186580

MESH：C538157