{"orpha":284227,"name":"TEMPI syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome"],"definition":"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284227/","orphanet_url":"https://www.orpha.net/en/disease/detail/284227","names":{"fr":{"name":"Syndrome TEMPI","synonyms":["Syndrome de télangiectasie-érythrocytose-gammopathie monoclonale-épanchements périnéphrétiques-shunt pulmonaire"],"definition":"Maladie multisystémique rare caractérisée par la présence de télangiectasies, d'une érythrocytose avec des taux élevés d'érythropoïétine, d'une gammapathie monoclonale, de collections de liquide périnéphrique et d'un shunt intrapulmonaire."},"de":{"name":"TEMPI-Syndrom","synonyms":["Telangiektasie - Erythrozytose - monoklonale Gammopathie - paranephritischer Abszess - Intrapulmonaler Shunt"]},"es":{"name":"Síndrome TEMPI","synonyms":["Telangiectasia-eritrocitosis-gammapatía monoclonal-colecciones líquidas perirrenales-derivación intrapulmonar"],"definition":"Es una enfermedad multisistémica poco frecuente caracterizada por la presencia de telangiectasias, eritrocitosis con niveles elevados de eritropoyetina, gammapatía monoclonal, colecciones de líquido perinéfrico y derivación intrapulmonar."},"it":{"name":"Sindrome TEMPI","synonyms":["Telangectasia - eritrocitosi - gammopatia monoclonale - ascessi perinefrici - shunt intrapolmonare"]},"nl":{"name":"TEMPI-syndroom","synonyms":["Teleangiëctasie - erytrocytose - monoklonale gammopathie - vloeistof rond de nieren - intrapulmonale shunting-syndroom"],"definition":"TEMPI-syndroom is een zeldzame multisysteemziekte die wordt gekarakteriseerd door de aanwezigheid van teleangiëctasieën, erytrocytose met verhoogde erytropoëtine-gehaltes, monoklonale gammopathie, ophopingen van perinefritisch vocht, en intrapulmonale shunt."},"pt":{"name":"Síndrome TEMPI"},"pl":{"name":"Zespół TEMPI","synonyms":["Teleangiektazja - erytrocytoza - gammopatia monoklonalna - gromadzenie się płynu w przestrzeni okołonerkowej - przeciek wewnątrzpłucny"]},"cs":{"name":"TEMPI syndrom","synonyms":["Syndrom zahrnující teleangiektázii, erytrocytózu, monoklonální gamapatii, perinefrické kolekce tekutiny a intrapulmonární zkraty"]},"uk":{"name":"Синдром TEMPI","synonyms":["Синдром телеангіектазії - еритроцитозу - моноклональної гамопатії - перинефрального скупчення рідини - внутрішньолегеневого шунтування"],"definition":"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting."},"zh":{"name":"TEMPI综合征（毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征）","synonyms":["毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征"],"definition":"TEMPI综合征是一种罕见的多系统疾病，其特征是毛细血管扩张、红细胞增多症伴红细胞生成素水平升高、单克隆免疫球蛋白病、肾周积液和肺内分流。"},"tr":{"name":"TEMPI sendromu","synonyms":["Telanjiektazi-eritrositoz-monoklonal gammopati-perinefrik-sıvı koleksiyonları-intrapulmoner şant sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A83.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017286","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3854394","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10962","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-24","source":"25143825[PMID]","terms":[{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001899","label":"Increased hematocrit","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004930","label":"Abnormality of the pulmonary vasculature","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011920","label":"Transudative pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null}]}}