{"orpha":3452,"name":"Whipple disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intestinal lipodystrophy"],"definition":"A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (<i>TW</i>).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3452/","orphanet_url":"https://www.orpha.net/en/disease/detail/3452","names":{"fr":{"name":"Maladie de Whipple","synonyms":["Lipodystrophie intestinale"],"definition":"Maladie infectieuse chronique rare lors de laquelle presque tous les organes sont susceptibles d'être envahis par <i>Tropheryma whipplei</i> (<i>TW</i>), bactérie en forme de bâtonnet."},"de":{"name":"Whipple-Krankheit","synonyms":["Lipodystrophie, intestinale","Morbus Whipple"],"definition":"Eine seltene chronische Infektionskrankheit, bei der nahezu alle Organsysteme von dem stäbchenförmigen Bakterium <i>Tropheryma whipplei (T. whipplei</I>) befallen werden."},"es":{"name":"Enfermedad de Whipple","synonyms":["Lipodistrofia intestinal"],"definition":"Es un trastorno infeccioso crónico poco frecuente en el que prácticamente todos los sistemas orgánicos pueden ser invadidos por una bacteria en forma de bastón, Tropheryma whipplei (<i>TW</i>)."},"it":{"name":"Malattia di Whipple","synonyms":["Granulomatosi lipofagica intestinale","Lipodistrofia intestinale","Sprue non tropicale secondaria"],"definition":"Si tratta di una malattia infettiva cronica rara, nella quale pressoché tutti gli organi possono essere invasi dal batterio bastoncelliforme Tropheryma whipplei (TW)."},"nl":{"name":"Ziekte van Whipple","synonyms":["Intestinale lipodystrofie"],"definition":"Een zeldzame, chronische infectieuze aandoening, waarbij nagenoeg alle orgaansystemen kunnen geïnvadeerd worden door de staafvormige bacterie <i>Tropheryma whipplei</i> (<i>TW</i>)."},"pt":{"name":"Doença de Whipple","synonyms":["Granulomatose lipofágica intestinal","Lipodistrofia intestinal","Spru não-tropical secundário"],"definition":"A doença de Whipple (WD) é uma doença crónica infecciosa em que quase todos os sistemas de orgãos podem ser invadidos por bactérias Tropheryma whipplei (T. whipplei) em formas de bacilo."},"pl":{"name":"Choroba Whipple'a","synonyms":["Lipodystrofia jelitowa","Wtórna nietropikalna biegunka"]},"cs":{"name":"Whippleova nemoc","synonyms":["Sekundární netropická sprue","Střevní lipodystrofie","Střevní lipofagická granulomatóza"]},"uk":{"name":"Хвороба Уіппла","synonyms":["Кишкова ліподистрофія"],"definition":"A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (<i>TW</i>)."},"zh":{"name":"Whipple病","synonyms":["肠原性脂质营养不良"]},"tr":{"name":"Whipple hastalığı","synonyms":["Bağırsak lipodistrofi"]}},"xrefs":[{"source":"ICD-10","code":"K90.8+","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"M14.8*","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"DA96.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1131038233"},{"source":"MONDO","code":"0005116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008061","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":163582,"name":"Rare bacterial infectious disease","classifications":[203]},{"orpha":306753,"name":"Rare disease with myoclonus as a major feature","classifications":[181]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"CD4","name":"CD4 molecule","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"38557723[PMID]","hgnc":"1678","ensembl":"ENSG00000010610","omim":"186940","loci":["12p13.31"]},{"symbol":"IRF4","name":"interferon regulatory factor 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"29537367[PMID]","hgnc":"6119","ensembl":"ENSG00000137265","omim":"601900","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["No data available"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Italy","status":"Validated","source":"25804189[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"United States","status":"Validated","source":"30488239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","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:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","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:0100749","label":"Chest 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pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}