{"orpha":3260,"name":"Idiopathic hypereosinophilic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3260/","orphanet_url":"https://www.orpha.net/en/disease/detail/3260","names":{"fr":{"name":"Syndrome hyperéosinophilique idiopathique","definition":"Maladie hématologique rare caractérisée par une éosinophilie sans preuve de clonalité, persistante pendant au moins six mois, et dont la cause sous-jacente ne peut être identifiée. La maladie est associée à des signes de lésions et de dysfonctionnement des organes. Les signes cliniques, qui varient fortement en fonction des systèmes et organes atteints, sont les complications cardiovasculaires ou neurologiques qui se développent rapidement en mettant en jeu le pronostic vital."},"de":{"name":"Hypereosinophiles Syndrom, idiopathisches","definition":"Eine seltene hämatologische Erkrankung, die durch eine Eosinophilie ohne Anzeichen von Klonalität gekennzeichnet ist, die mindestens sechs Monate lang anhält und für die keine zugrundeliegende Ursache ermittelt werden kann. Die Erkrankung geht mit Anzeichen von Organschäden und Funktionsstörungen einher. Die klinischen Manifestationen sind je nach den betroffenen Organsystemen sehr unterschiedlich und umfassen schnell auftretende, lebensbedrohliche kardiovaskuläre oder neurologische Komplikationen."},"es":{"name":"Síndrome hipereosinofílico idiopático","definition":"Es una enfermedad hematológica poco frecuente caracterizada por eosinofilia sin evidencia de clonalidad que persiste durante al menos seis meses, para la cual no se puede identificar una causa subyacente. La afección se asocia con signos de daño y disfunción orgánica. Las manifestaciones clínicas son muy variables, dependiendo de los sistemas de órganos involucrados, e incluyen complicaciones cardiovasculares o neurológicas potencialmente mortales de rápido desarrollo."},"it":{"name":"Sindrome ipereosinofila idiopatica","definition":"Si tratta di una malattia ematologica rara, caratterizzata da eosinofilia in assenza di clonalità che persiste per almeno sei mesi, la cui eziologia non è nota. I pazienti presentano i sintomi secondari al danno e alla disfunzione d'organo. I segni clinici sono molto variabili, dipendono dagli organi interessati, e comprendono le complicanze cardiovascolari e neurologiche potenzialmente letali a progressione rapida."},"nl":{"name":"Idiopathisch hypereosinofiel syndroom","definition":"Een zeldzame hematologische aandoening, gekenmerkt door eosinofilie zonder bewijs van klonaliteit die minstens zes maanden aanhoudt, en waarvoor geen onderliggende oorzaak kan geïdentificeerd worden. De aandoening is geassocieerd met verschijnselen van beschadiging en disfunctie van organen. Klinische manifestaties zijn zeer variabel, afhankelijk van het betrokken orgaan, en omvatten onder meer snel ontwikkelende, levensbedreigende cardiovasculaire of neurologische complicaties."},"pt":{"name":"Síndrome hipereosinofílico idiopático"},"pl":{"name":"Zespół hipereozynofilowy o nieznanym znaczeniu"},"cs":{"name":"Idiopatický hypereozinofilní syndrom"},"uk":{"name":"Ідіопатичний гіпереозинофільний синдром","definition":"A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications."},"zh":{"name":"特发性嗜酸细胞增多综合征"},"tr":{"name":"İdiyopatik hipereozinofilik sendrom"}},"xrefs":[{"source":"OMIM","code":"607685","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B03.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"703101846"},{"source":"MONDO","code":"0011895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206141","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_22740191[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-25","source":"26475367[PMID]_15772698[PMID]_22740191[PMID]","terms":[{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031323","label":"Myocardial eosinophilic infiltration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100665","label":"Angioedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200123","label":"Chronic hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008940","label":"Generalized lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011974","label":"Myelofibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006580","label":"Portal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006253","label":"Swelling of proximal interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200029","label":"Vasculitis in the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}