Blau syndrome

A rare hereditary disorder with autosomal dominant inheritance that is characterized by SKIN RASH; ARTHRITIS; and UVEITIS. Onset is typically in children under four years of age. SYNOVITIS, anterior UVEITIS, adhesion of the IRIS to the CORNEA, and permanent bending of the fingers and toes (camptodactyly) may also occur. A mutation in the NOD2 gene has been identified. OMIM: 186580

Also Known As:

Arthrocutaneouveal granulomatosis; Early-Onset Sarcoidosis; Familial Granulomatosis, Blau Type; Familial Juvenile Systemic Granulomatosis; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, Blau type; Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Jabs syndrome; Pediatric Granulomatous Arthritis; Sarcoidosis, Early-Onset; Synovitis granulomatous with uveitis and cranial neuropathies; Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Musculoskeletal Diseases: 751
- Joint Diseases: 6625
  - Arthritis: 34130
    - Blau syndrome: 120
  - Synovitis: 4073
    - Blau syndrome: 120
Hemic and Lymphatic Diseases: 7
- Lymphatic Diseases: 96
  - Lymphoproliferative Disorders: 4321
    - Sarcoidosis: 8641
      - Blau syndrome: 120
Immune System Diseases: 4430
- Hypersensitivity: 78126
  - Delayed Hypersensitivity: 3395
    - Sarcoidosis: 8641
      - Blau syndrome: 120
Eye Diseases: 3620
- Uveal Diseases: 16
  - Uveitis: 8669
    - Blau syndrome: 120

Carlos Rose Selected Research

Carlos Rose Research Topics

Disease

Drug/Important Bio-Agent (IBA)