{"orpha":90038,"name":"Shiga toxin-associated hemolytic uremic syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["D+ HUS","EHEC-HUS","Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli","Hemolytic uremic syndrome with diarrhea","STEC-HUS","Shiga-like toxin-associated HUS","Stx-HUS","Typical HUS","Typical hemolytic uremic syndrome"],"definition":"A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by <i>Shigella dysentriae</i> type 1 or <i>E. Coli</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90038/","orphanet_url":"https://www.orpha.net/en/disease/detail/90038","names":{"fr":{"name":"Syndrome hémolytique et urémique à Escherichia coli producteur de Shiga-toxines","synonyms":["D+ HUS","SHU D+","SHU associé aux toxines Shiga-like","SHU typique","SHU à EHEC","SHU à STEC","Syndrome hémolytique et urémique post-diarrhéique","Syndrome hémolytique et urémique typique"],"definition":"Microangiopathie thrombotique rare caractérisée par une anémie hémolytique mécanique, une thrombocytopénie et une insuffisance rénale, généralement associées à une entérite prodromique causée par <i>Shigella dysentriae</i> de type&nbsp;1 ou <i>E. Coli</i>."},"de":{"name":"Shiga-ähnliches Toxin-assoziiertes Hämolytisch-urämisches Syndrom","synonyms":["D+ HUS","EHEC-HUS","Hämolytisch-urämisches Syndrom assoziiert mit Shiga toxin-produzierenden Escherichia coli","Hämolytisch-urämisches Syndrom mit Diarrhoe","Hämolytisch-urämisches Syndrom, typisches","STEC-HUS","Shiga-ähnliches Toxin-assoziierte HUS","Sxt-HUS","Typisches HUS"],"definition":"Eine seltene thrombotische Mikroangiopathie, die durch mechanische hämolytische Anämie, Thrombozytopenie und Nierenfunktionsstörung gekennzeichnet ist und in der Prodromalphase von einer Enteritis begleitet wird, die durch <i>Shigella dysentriae</i> Typ 1 oder <i>E. Coli</i> verursacht wird."},"es":{"name":"Síndrome hemolítico urémico asociado a la toxina Shiga","synonyms":["SHU D+","SHU asociado a toxina similar a Shiga","SHU típico","Síndrome hemolítico urémico asociado a Escherichia coli productor de toxina Shiga","Síndrome hemolítico urémico con diarrea","Síndrome hemolítico urémico típico"],"definition":"Es una microangiopatía trombótica caracterizada por anemia hemolítica mecánica, trombocitopenia y disfunción renal que se suele asociar a enteritis prodrómica causada por <i>Shigella dysentriae</i> Tipo 1 o <i>E. Coli</i>."},"it":{"name":"Sindrome emolitico-uremica tipica","synonyms":["D+HUS","HUS associata alla tossina Shiga-simile","HUS tipica","Sindrome emolitico-uremica con diarrea","Sxt-HUS"],"definition":"La sindrome emolitico-uremica tipica (HUS tipica) è una microangiopatia trombotica caratterizzata da anemia emolitica meccanica, trombocitopenia e disfunzione renale. Di solito si associa ad una enterire prodromica causata dalla Shigella dysentriae tipo 1 o dall'E. Coli."},"nl":{"name":"Shigatoxine-geassocieerd hemolytisch-uremisch syndroom","synonyms":["D+ HUS","EHEC-HUS","Hemolytisch-uremisch syndroom geassocieerd met Shigatoxine-producerende Escherichia coli","Hemolytisch-uremisch syndroom met diarree","STEC-HUS","Shiga-achtig toxine-geassocieerd HUS","Sxt-HUS","Typisch HUS","Typisch hemolytisch-uremisch syndroom"],"definition":"Een zeldzame trombotische microangiopathie, gekenmerkt door mechanische hemolytische anemie, trombocytopenie, en nierdisfunctie die meestal geassocieerd is met prodromale enteritis veroorzaakt door <i>Shigella dysentriae</i> type 1 of <i>E. coli</i>."},"pt":{"name":"Síndrome hemolítico-urémico associado a Shiga-toxina","synonyms":["Síndrome hemolítico-urémico típico"]},"pl":{"name":"Typowy zespół hemolityczno-mocznicowy","synonyms":["D+HUS","HUS związany z toksyną podobną do toksyny Shiga","Sxt-HUS","Typowy HUS","Zespół hemolityczno-mocznicowy z biegunką"],"definition":"Rzadka mikroangiopatia zakrzepowa charakteryzująca się niedokrwistością hemolityczną wywołaną czynnikami mechanicznymi, małopłytkowością i dysfunkcją nerek, zwykle związana z niedawno przebytym zapaleniem jelit wywołanym przez Shigella dysentriae typu 1 lub E. coli."},"cs":{"name":"Typický hemolytickouremický syndrom","synonyms":["D+ HUS","HUS vázaný na toxin podobný shiga","Sxt-HUS","Typický HUS","Hemolytickouremický syndrom s průjmem"]},"uk":{"name":"Гемолітико-уремічний синдром, асоційований з токсином Шига","synonyms":["D+ HUS","EHEC-HUS","Гемолітико-уремічний синдром, асоційований з Escherichia coli, що продукує токсин Шига","Гемолітико-уремічний синдром з діареєю","Шига-подібний токсин, асоційований з СЧВ","STEC-HUS","Stx-HUS","Типовий гемолітико-уремічний синдром","Типовий HUS"],"definition":"A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by <i>Shigella dysentriae</i> type 1 or <i>E. Coli</i>."},"zh":{"name":"志贺毒素相关性溶血性尿毒症综合征","synonyms":["产志贺毒素大肠杆菌相关性溶血性尿毒症综合征"]},"tr":{"name":"Shiga toksin-ilişkili hemolitik üremik sendrom","synonyms":["D + HUS","Stx-HUS","EHEC-HUS","STEC-HUS","Tipik HUS","Shiga-benzeri toksin ile ilişkili HUS","Tipik hemolitik üremik sendrom","İshal ile seyreden hemolitik üremik sendrom","Shiga toksin üreten Escherichia coli ile ilişkili hemolitik üremik sendrom"]}},"xrefs":[{"source":"OMIM","code":"235400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A21.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"XN108","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1268936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":544482,"name":"Infection-related hemolytic uremic syndrome","classifications":[188,194,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"United States","status":"Validated","source":"ISBN:0123864577[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-27","source":"29961127[PMID]_30561409[PMID]_27768015[PMID]_22802583[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100519","label":"Anuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005423","label":"Dysfunctional alternative complement pathway","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100282","label":"Acute colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003641","label":"Hemoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001981","label":"Schistocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012851","label":"Colonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002576","label":"Intussusception","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Very rare (<4-1%)","criteria":null}]}}