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Blau syndrome

Disease Summary
Associated Targets (1)
Tclin

1


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Mondo Description Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
Uniprot Description An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.
Disease Ontology Description An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.
Mondo Term and Equivalent IDs
MONDO:0008523:  Blau syndrome
GARD:0000304: 
MESH:C538157: 
NCIT:C116794: 
Orphanet:90340: 
SCTID:699861000: 
UMLS:C1861303: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)