{"orpha":35687,"name":"Erdheim-Chester disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35687/","orphanet_url":"https://www.orpha.net/en/disease/detail/35687","names":{"fr":{"name":"Maladie d'Erdheim-Chester","definition":"La maladie d'Erdheim-Chester (MEC), une forme d'histiocytose non langerhansienne, est une maladie multisystémique caractérisée :une atteinte squelettique avec douleurs osseuses, exophtalmie, diabète insipide, altération de la fonction rénale, du système nerveux central (SNC) et/ou cardiovasculaire."},"de":{"name":"Erdheim-Chester-Krankheit","definition":"Die Erdheim-Chester-Krankheit (ECD), eine nicht-Langerhanssche Form der Histiozytose, ist eine Multisystem-Erkrankung mit Skelettsymptomen (Knochenschmerzen), Exophthalmus, Diabetes insipidus, Schädigung der Nieren und des Zentralnervensystems (ZNS) und/oder kardiovaskulären Symptomen."},"es":{"name":"Enfermedad de Erdheim-Chester","definition":"La enfermedad de Erdheim-Chester (ECD), una forma de histoicitosis no-Langerhans, es una enfermedad multisistémica caracterizada por diferentes manifestaciones como afectación esquelética con dolor óseo, exoftalmos, diabetes insípida, insuficiencia renal y afectación del sistema nervioso central (SNC) y/o cardiovascular."},"it":{"name":"Malattia di Erdheim-Chester","definition":"La malattia di Erdheim-Chester (ECD), forma di istiocitosi a cellule non-Langerhans, è una malattia multisistemica con interessamento dello scheletro associato a dolore osseo, del sistema nervoso centrale (SNC) e/o dell'apparato cardiovascolare, esoftalmo, diabete insipido, e insufficienza renale."},"nl":{"name":"Ziekte van Erdheim-Chester","definition":"De ziekte van Erdheim-Chester (ECD), een niet-Langerhans vorm van histiocytose, is een multisysteemziekte die wordt gekarakteriseerd door verscheidene manifestaties zoals betrokkenheid van het skelet (botpijn), exophthalmus, diabetes insipidus, nierstoornissen en betrokkenheid van het centrale zenuwstelsel (CZS) en/of het cardiovasculair systeem."},"pt":{"name":"Doença de Erdheim-Chester"},"pl":{"name":"Choroba Erdheima i Chestera"},"cs":{"name":"Erdheimova-Chesterova nemoc","synonyms":["Erdheim-Chesterova nemoc"]},"uk":{"name":"Хвороба Ердгейма-Честера","definition":"Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement."},"zh":{"name":"Erdheim-Chester病"},"tr":{"name":"Erdheim-Chester hastalığı"}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B31.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1395439137"},{"source":"ICD-11","code":"XH1VJ3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"146718003"},{"source":"MONDO","code":"0018153","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D031249","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878675","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6369","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":324930,"name":"Granulomatous autoinflammatory syndrome","classifications":[196]},{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"20724540[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","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:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","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}]}}