MeSH Browser

MeSH Supplementary: Blau syndrome
Unique ID: C538157
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538157
Entry Term(s): 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
Previous Indexing: *CRANIAL NERVE DISEASES (2010-2015)
Heading Mapped to: *Arthritis; *Sarcoidosis; *Synovitis; *Uveitis; *Hereditary Autoinflammatory Diseases
Frequency: 139
Note: 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. YAO SYNDROME is an allelic disorder to Blau Syndrome. OMIM: 186580
Date of Entry: 2010/08/25
Revision Date: 2024/03/29

Blau syndrome MeSH Supplementary Concept Data 2024