Blau syndrome
ORPHA: 90340
Overview
autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Blau syndrome, sourced from HPO and Orphanet clinical annotations.
KeratitisHyperpigmentation of the skinSkin rashIridocyclitisLimitation of joint mobilityJoint swellingArthralgiaPolyarticular arthritisErythemaPosterior uveitisAbnormal inflammatory responseSynovitisPapuleGlaucomaCataractPhotophobiaDry skinArthritisFeverErythema nodosumCamptodactyly of fingerNephropathyXerostomiaRetinopathyVisual lossAbnormal optic nerve morphologyAbnormal choroid morphologyHypertensionAbnormal cranial nerve morphologyAbnormality of the liverPericarditisSplenomegalyAnemiaPulmonary arterial hypertensionDyspneaLymphadenopathyStage 5 chronic kidney diseaseAortic aneurysmLarge vessel vasculitisClear cell renal cell carcinomaAbnormal retinal vascular morphologyIchthyosisAbnormal salivary gland morphologyFacial palsyRetrobulbar optic neuritisSkin ulcer
Classification & Codes
Orphanet Code
ORPHA:90340Blau syndrome
| Orphanet | ORPHA:90340 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO