{"orpha":314950,"name":"Primary hypereosinophilic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Clonal hypereosinophilic syndrome","HES-M","HES-N","Neoplastic hypereosinophilic syndrome","Primary HES"],"definition":"A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314950/","orphanet_url":"https://www.orpha.net/en/disease/detail/314950","names":{"fr":{"name":"Syndrome hyperéosinophilique primitif","synonyms":["SHE-M","SHE-N","Syndrome hyperéosinophilique clonal","Syndrome hyperéosinophilique néoplasique"],"definition":"Syndrome hyperéosinophilique rare, caractérisé par une hyperéosinophilie produite par des éosinophiles clonaux dérivés de cellules souches tumorales sans cause secondaire d'éosinophilie, et persistant pendant au moins 6 mois. La maladie est associée à des signes de dommages, de dysfonctionnement et d'infiltration des organes. Les manifestations cliniques sont très inconstantes et dépendent des organes affectés. Elles incluent, entre autres, des manifestations dermatologiques, pulmonaires, cardiaques, gastro-intestinales et cérébrales."},"de":{"name":"Hypereosinophiles Syndrom, primäres","synonyms":["HES, primäres","HES-M","HESN","Hypereosinophiles Syndrom, klonales","Hypereosinophiles Syndrom, neoplastisches"],"definition":"Eine seltene hämatologische Erkrankung, die durch eine Hypereosinophilie gekennzeichnet ist, die durch klonale Eosinophile aus neoplastischen Stammzellen verursacht wird. Es gibt keine sekundäre Ursache für die Eosinophilie, und die Hypereosinophilie hält mindestens sechs Monate an. Die Erkrankung geht mit Anzeichen von Organinfiltration, Funktionsstörungen und Läsionen einher. Die klinischen Manifestationen sind je nach betroffenem Organsystem sehr unterschiedlich und umfassen unter anderem dermatologische, pulmonale, kardiale, gastrointestinale und zerebrale Manifestationen."},"es":{"name":"Síndrome hipereosinofílico primario","synonyms":["HES primario","HES-M","HESN","Síndrome hipereosinofílico clonal","Síndrome hipereosinofílico neoplásico"],"definition":"Es un síndrome hipereosinofílico poco frecuente caracterizado por hipereosinofilia producida por eosinófilos clonales derivados de células progenitoras neoplásicas en ausencia de otras causas secundarias de eosinofilia y que persiste durante al menos seis meses. La afección se asocia con signos de infiltración, disfunción y daño orgánico. Las manifestaciones clínicas son muy variables, dependiendo de los sistemas de órganos afectados e incluyen manifestaciones dermatológicas, pulmonares, cardíacas, gastrointestinales y cerebrales, entre otras."},"it":{"name":"Sindrome ipereosinofila primitiva","synonyms":["HES primitiva","HES-M","HESN","Sindrome ipereosinofila clonale","Sindrome ipereosinofila neoplastica"],"definition":"Si tratta di una sindrome ipereosinofila rara, caratterizzata da ipereosinofilia causata da eosinofili clonali derivati da cellule staminali neoplastiche, in assenza di cause secondarie di eosinofilia, che persiste per almeno sei mesi. La malattia si associa all'infiltrazione, alla disfunzione e al danno d'organo. I segni clinici sono molto variabili, dipendono dagli organi coinvolti, e comprendono sintomi cutanei, polmonari, cardiaci, gastrointestinali e cerebrali."},"nl":{"name":"Primair hypereosinofiel syndroom","synonyms":["HES-M","HESN","Klonaal hypereosinofiel syndroom","Neoplastisch hypereosinofiel syndroom","Primaire HES"],"definition":"Een zeldzaam hypereosinofiel syndroom, gekenmerkt door hypereosinofilie geproduceerd door klonale eosinofielen die zijn afgeleid van neoplastische stamcellen, in afwezigheid van enige secundaire oorzaak van eosinofilie en met een duur van minstens zes maanden. De aandoening is geassocieerd met verschijnselen van infiltratie, disfunctie, en beschadiging van organen. Klinische manifestaties zijn zeer variabel, afhankelijk van het betrokken orgaansysteem, en zijn onder meer dermatologische, pulmonale, cardiale, gastro-intestinale, en cerebrale manifestaties."},"pt":{"name":"Síndrome hipereosinofílica primária","synonyms":["Síndrome hipereosinofílica clonal","Síndrome hipereosinofílica neoplásica","HES primária","HES-M","HESN"],"definition":"Síndrome hipereosinofílica rara caracterizada por hipereosinofilia produzida por eosinófilos clonais derivados de células-tronco neoplásicas na ausência de qualquer causa secundária de eosinofilia que se prolonga por um período não inferior a seis meses. A doença está associada a sinais de patologia infiltrativa de órgãos, disfunção e lesão. As manifestações clínicas são muito variáveis, dependendo dos sistemas e órgãos envolvidos, e incluem manifestações dermatológicas, pulmonares, cardíacas, gastrointestinais, cerebrais, entre outras."},"pl":{"name":"Pierwotny zespół hipereozynofilowy","synonyms":["HES-M","HES-N","Klonalny zespół hipereozynofilowy","Neoplastyczny zespół hipereozynofilowy","Pierwotny HES"]},"cs":{"name":"Primární hypereozinofilní syndrom","synonyms":["Klonální hypereozinofilní syndrom","HES-M","HES-N","Neoplastický hypereozinofilní syndrom","Primární HES"]},"uk":{"name":"Первинний гіпереозинофільний синдром","synonyms":["Клональний гіпереозинофільний синдром","HES-M","HES-N","Неопластичний гіпереозинофільний синдром","Первинна HES"],"definition":"A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others."},"zh":{"name":"原发性嗜酸性粒细胞增多综合征","synonyms":["肿瘤性嗜酸性粒细胞增多综合征"]},"tr":{"name":"Primer hipereozinofilik sendrom","synonyms":["HES-M","HES-N","Primer HES","Klonal hipereozinofilik sendrom","Neoplastik hipereozinofilik sendrom"]}},"xrefs":[{"source":"ICD-10","code":"D47.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":168956,"name":"Hypereosinophilic syndrome","classifications":[146,194,202,233]}],"children":[],"genes":[{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22460074[PMID]_24577808[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22460074[PMID]_24577808[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"FIP1L1","name":"factor interacting with PAPOLA and CPSF1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22460074[PMID]_24577808[PMID]","hgnc":"19124","ensembl":"ENSG00000145216","omim":"607686","loci":["4q12"]},{"symbol":"PDGFRA","name":"platelet derived growth factor receptor alpha","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22460074[PMID]_24577808[PMID]","hgnc":"8803","ensembl":"ENSG00000134853","omim":"173490","loci":["4q12"]},{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22460074[PMID]_24577808[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}