{"orpha":90340,"name":"Blau syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90340/","orphanet_url":"https://www.orpha.net/en/disease/detail/90340","names":{"fr":{"name":"Syndrome de Blau","definition":"Le syndrome de Blau (SB) est une maladie inflammatoire systémique rare caractérisée par une arthrite granulomateuse précoce, une uvéite et une éruption cutanée. Le SB se réfère désormais à la fois aux formes familiale et sporadique (anciennement connue sous le nom de sarcoïdose précoce) de la même maladie. Le terme proposé d'arthrite granulomateuse pédiatrique est actuellement débattu puisqu'il ne reflète pas la nature systémique de la maladie."},"de":{"name":"Blau-Syndrom","definition":"Das Blau-Syndrom (BS) ist eine seltene, systemische entzündliche Erkrankung mit frühbeginnender granulomatöser Arthritis, Uveitis und Exanthem. Der Terminus BS bezeichnet jetzt eine einheitliche Erkrankung mit sowohl familiärem als auch sporadischem Auftreten. (Letztere Form wurde bisher als Sarkoidose mit frühem Beginn bezeichnet.) Die vorgeschlagene Bezeichnung Pädiatrische granulomatöse Arthritis wird aktuell in Frage gestellt, da sie nicht den systemischen Charakter der Erkrankung anspricht."},"es":{"name":"Síndrome de Blau","definition":"El síndrome de Blau (BS) es una enfermedad inflamatoria sistémica poco frecuente que se caracteriza por la aparición temprana de artritis granulomatososa, uveítis y erupciones en la piel. En la actualidad, el BS se refiere tanto a la forma familiar como a la esporádica (anteriormente sarcoidosis de aparición temprana) de la misma enfermedad. El término propuesto de artritis granulomatosa pediátrica está actualmente en cuestión, ya que no representa la naturaleza sistémica de la enfermedad."},"it":{"name":"Sindrome di Blau","definition":"La sindrome di Blau (BS) è una malattia infiammatoria sistemica rara, caratterizzata da artrite granulomatosa a esordio precoce, uveite e rash cutaneo. La BS definisce attualmente sia la forma familiare che quella sporadica (classificata in precedenza come sarcoidosi a esordio precoce) della stessa malattia. È stato invece contestato l'uso del termine \"artrite granulomatosa pediatrica\", in quanto non rappresenta la natura sistemica della malattia."},"nl":{"name":"Blausyndroom","definition":"Blausyndroom (BS) is een zeldzame systemische inflammatoire ziekte die wordt gekarakteriseerd door vroeg beginnende granulomateuze artritis, uveïtis en huiduitslag. BS verwijst nu naar zowel de familiale als de sporadische (voorheen sarcoïdose met vroege aanvang) vorm van dezelfde ziekte. De voorgestelde term pediatrische granulomateuze artritis wordt momenteel in vraag gesteld, aangezien deze niet de systemische aard van de ziekte weergeeft."},"pt":{"name":"Síndrome Blau"},"pl":{"name":"Zespół Blaua"},"cs":{"name":"Blauův syndrom"},"uk":{"name":"Синдром Блау","definition":"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."},"zh":{"name":"Blau综合征"},"tr":{"name":"Blau sendromu"}},"xrefs":[{"source":"OMIM","code":"186580","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"382488319"},{"source":"MONDO","code":"0008523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5201146","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"304","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071755","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3274,"name":"Granulomatous arthritis of childhood","status":"inactive"},{"type":"Moved to","orpha":90341,"name":"Early-onset sarcoidosis","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":324930,"name":"Granulomatous autoinflammatory syndrome","classifications":[196]},{"orpha":324950,"name":"Granulomatous autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":264714,"name":"Secondary interstitial lung disease specific to childhood associated with a granulomatous disease","classifications":[184,233]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]},{"orpha":280933,"name":"Systemic diseases with panuveitis","classifications":[189]}],"children":[],"genes":[{"symbol":"NOD2","name":"nucleotide binding oligomerization domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5331","ensembl":"ENSG00000167207","omim":"605956","loci":["16q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Denmark","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25136265[PMID]_20084402[PMID]","terms":[{"hpo":"HP:0012647","label":"Abnormal inflammatory response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001094","label":"Iridocyclitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005764","label":"Polyarticular arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012123","label":"Posterior uveitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006770","label":"Clear cell renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005310","label":"Large vessel vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100654","label":"Retrobulbar optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null}]}}