{"orpha":596753,"name":"VEXAS syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis, and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-596753/","orphanet_url":"https://www.orpha.net/en/disease/detail/596753","names":{"fr":{"name":"Syndrome VEXAS","definition":"Syndrome auto-inflammatoire rare caractérisé par l'apparition, à l'âge adulte, de manifestations rhumatologiques telles qu'une fièvre récurrente, une inflammation pulmonaire et cutanée, une chondrite de l'oreille et du nez, une vascularite, une thrombose veineuse profonde et une arthralgie. Les analyses biologiques révèlent des anomalies hématologiques progressives, à type d'anémie macrocytaire et de thrombocytopénie, ainsi qu'une élévation des marqueurs inflammatoires. La biopsie de la moelle osseuse met en évidence une hypercellularité et des signes de dysplasie de la moelle osseuse. Touchant principalement les hommes, la maladie est due à des mutations somatiques sur le chromosome Xp11."},"de":{"name":"VEXAS-Syndrom","definition":"Ein seltenes autoinflammatorisches Syndrom, das durch rheumatologische Manifestationen im Erwachsenenalter wie wiederkehrendes Fieber, Haut- und Lungenentzündungen, Ohr- und Nasenchondritis, Vaskulitis, tiefe Venenthrombose und Arthralgie gekennzeichnet ist. Laboruntersuchungen zeigen fortschreitende hämatologische Anomalien, einschließlich makrozytärer Anämie und Thrombozytopenie, sowie erhöhte Entzündungsmarker. Die Knochenmarkbiopsie zeigt Hyperzellularität und Anzeichen einer Knochenmarkdysplasie. Die Krankheit tritt hauptsächlich bei Männern auf und wird durch somatische Mutationen auf Chromosom Xp11 verursacht."},"es":{"name":"Síndrome VEXAS","synonyms":["Vacuolas, enzima E1, ligado al cromosoma X, autoinflamatorio, somático"],"definition":"Es un síndrome autoinflamatorio poco frecuente caracterizado por el inicio en la edad adulta de manifestaciones reumatológicas como fiebre recurrente, inflamación cutánea y pulmonar, condritis auricular y nasal, vasculitis, trombosis venosa profunda y artralgia. Las pruebas bioquímicas revelan anomalías hematológicas progresivas que incluyen anemia macrocítica y trombocitopenia, así como elevación de marcadores inflamatorios. La biopsia de médula ósea muestra hipercelularidad y signos de displasia de médula ósea. La enfermedad ocurre principalmente en varones y está causada por mutaciones somáticas en el cromosoma Xp11."},"it":{"name":"Sindrome VEXAS","synonyms":["Sindrome autoinfiammatoria somatica legata all'X con vacuoli e interessamento dell'enzima E1"]},"nl":{"name":"VEXAS-syndroom","synonyms":["Vacuole, E1-enzym, X-gebonden, auto-inflammatoir, somatisch"],"definition":"Een zeldzaam auto-inflammatoir syndroom, gekenmerkt door aanvang in de volwassenheid van reumatologische manifestaties zoals recidiverende koorts, inflammatie van huid en long, chondritis van oor en neus, vasculitis, diepveneuze trombose, en artralgie. Laboratoriumonderzoek toont progressieve hematologische afwijkingen, waaronder macrocytaire anemie en trombocytopenie, alsook toename van inflammatoire merkers. Biopsie van beenmerg toont hypercellulariteit en verschijnselen van beenmergdysplasie. De ziekte komt hoofdzakelijk voor bij mannen en wordt veroorzaakt door somatische mutaties op chromosoom Xp11."},"pt":{"name":"Síndrome VEXAS","definition":"Síndrome autoinflamatória rara caracterizada por aparecimento na idade adulta de manifestações reumatológicas, como febre recorrente, inflamação da pele e dos pulmões, condrite do ouvido e do nariz, vasculite, trombose venosa profunda e artralgias. Os exames laboratoriais demonstram anomalias hematológicas progressivas, incluindo anemia macrocítica e trombocitopenia, bem como elevação dos marcadores inflamatórios. A biópsia da medula óssea demonstra hipercelularidade e sinais de displasia da medula óssea. A doença ocorre sobretudo nos homens e é causada por mutações somáticas no cromossoma Xp11."},"pl":{"name":"Zespół VEXAS","synonyms":["Wakuole, enzym E1, sprzężony z chromosomem X, autozapalny, somatyczny"],"definition":"Rzadki zespół autozapalny charakteryzujący się występowaniem objawów reumatologicznych u dorosłych, takich jak nawracająca gorączka, zapalenie skóry i płuc, zapalenie chrząstki ucha i nosa, zapalenie naczyń, zakrzepica żył głębokich i bóle stawów. W badaniach laboratoryjnych stwierdza się postępujące nieprawidłowości hematologiczne, w tym niedokrwistość makrocytarną i trombocytopenię, a także podwyższone markery stanu zapalnego. Szpik w biopsji jest bogatokomórkowy i wykazuje cechy dysplazji. Choroba występuje głównie u mężczyzn i jest spowodowana mutacjami somatycznymi na chromosomie Xp11."},"cs":{"name":"Syndrom VEXAS"},"uk":{"name":"Синдром VEXAS","definition":"A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis, and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11."},"zh":{"name":"VEXAS syndrome"},"tr":{"name":"VEXAS syndrome"}},"xrefs":[{"source":"OMIM","code":"301054","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0026777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000721467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5435753","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":156143,"name":"Predominantly medium-vessel vasculitis","classifications":[196,198]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]}],"children":[],"genes":[{"symbol":"UBA1","name":"ubiquitin like modifier activating enzyme 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"33108101[PMID]","hgnc":"12469","ensembl":"ENSG00000130985","omim":"314370","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"34489099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}