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

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to uveitis and sarcoidosis 1. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Infectious disease and Innate Immune System. Affiliated tissues include skin and eye, and related phenotypes are arthralgia and joint swelling

Related ID：

MALACARDS：BLS001

OMIM：186580

MESH：C538157