{"orpha":91500,"name":"Tubulointerstitial nephritis and uveitis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dobrin syndrome","TINU syndrome"],"definition":"A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91500/","orphanet_url":"https://www.orpha.net/en/disease/detail/91500","names":{"fr":{"name":"Néphrite tubulo-interstitielle et uvéite","synonyms":["Syndrome TINU","Syndrome de Dobrin"],"definition":"Néphropathie tubulaire rare caractérisée par une néphrite tubulo-interstitielle (NTI) à début précoce associée à une uvéite antérieure."},"de":{"name":"Tubulointerstitielle Nephritis und Uveitis-Syndrom","synonyms":["Dobrin-Syndrom","TINU-Syndrom"],"definition":"Eine seltene tubuläre Nierenerkrankung, die durch eine früh einsetzende tubulointerstitielle Nephritis in Verbindung mit einer anterioren Uveitis gekennzeichnet ist."},"es":{"name":"Síndrome de nefritis tubulointersticial y uveitis","synonyms":["Síndrome TINU","Síndrome de Dobrin"],"definition":"Es una enfermedad renal tubular poco frecuente caracterizada por nefritis tubulointersticial de inicio temprano asociada a uveítis anterior."},"it":{"name":"Sindrome da nefrite tubulointerstiziale e uveite","synonyms":["Sindrome TINU","Sindrome di Dobrin"],"definition":"Si tratta di una malattia rara dei tubuli renali, caratterizzata da nefrite tubulointerstiziale ad esordio precoce associata a uveite anteriore."},"nl":{"name":"Tubulo-interstitiële nefritis en uveïtis-syndroom","synonyms":["Syndroom van Dobrin","TINU-syndroom"],"definition":"Een zeldzame ziekte van niertubulus, gekenmerkt door vroege aanvang van tubulo-interstitiële nefritis, geassocieerd met anterieure uveïtis."},"pt":{"name":"Síndrome de nefrite túbulointersticial e uveíte","synonyms":["Síndrome Dobrin","Síndrome TINU"]},"pl":{"name":"Zespół kanalikowo-śródmiąższowego zapalenia nerek i zapalenia błony naczyniowej","synonyms":["Ostre zapalenie kanalikowo-śródmiąższowe nerek i zapalenie błony naczyniowej","Zespół TINU"],"definition":"Rzadka choroba kanalików nerkowych charakteryzująca się kanalikowo-śródmiąższowym zapaleniem nerek o wczesnym początku, powiązanym z zapaleniem przedniego odcinka błony naczyniowej oka."},"cs":{"name":"Syndrom tubulointersticiální nefritidy a uveitidy","synonyms":["Akutní tubulointersticiální nefritida s uveitidou","TINU syndrom","Tubulointersticiální nefritida s uveitidou"]},"uk":{"name":"Тубулоінтерстиціальний нефрит та синдром увеїту","synonyms":["Синдром Добріна","Синдром TINU"],"definition":"A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis."},"zh":{"name":"肾小管间质性肾炎和葡萄膜炎综合征","synonyms":["急性肾小管间质性肾炎和葡萄膜炎综合征"],"definition":"一种罕见的肾小管疾病，特征是与前葡萄膜炎相关的早发性肾小管间质性肾炎。"},"tr":{"name":"Tubulointerstisyel nefrit ve üveit sendromu","synonyms":["TINU sendromu","Dobrin sendromu","Akut tubulointerstisyel nefrit ve üveit sendromu"]}},"xrefs":[{"source":"OMIM","code":"607665","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A96.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"791669398"},{"source":"MONDO","code":"0011885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9252","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28709457[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-12","source":"28806188[PMID]_31719109[PMID]_32463299[PMID]","terms":[{"hpo":"HP:0025466","label":"Beta 2-microglobulinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007813","label":"Nongranulomatous uveitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032637","label":"Renal interstitial edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032589","label":"Renal lymphocytic tubulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032590","label":"Renal neutrophilic tubulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012595","label":"Mild proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012123","label":"Posterior uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100586","label":"Sterile pyuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031616","label":"Anterior chamber flare","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012124","label":"Intermediate uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012121","label":"Panuveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031851","label":"Reduced hematocrit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025188","label":"Retinal vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100532","label":"Scleritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007777","label":"Chorioretinal scar","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011525","label":"Iris nevus","frequency":"Very rare (<4-1%)","criteria":null}]}}