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Blau syndrome MeSH Supplementary Concept Data 2025


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
Registry Numbers
0
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 Preferred
Sarcoidosis, Early-Onset Related
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