{"orpha":2134,"name":"Atypical hemolytic uremic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical HUS","aHUS"],"definition":"A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2134/","orphanet_url":"https://www.orpha.net/en/disease/detail/2134","names":{"fr":{"name":"Syndrome hémolytique et urémique atypique","synonyms":["SHU atypique","SHUa"],"definition":"Microangiopathie thrombotique génétique rare due à un dérèglement de la voie alternative du complément et caractérisée par la triade : anémie hémolytique, thrombocytopénie et insuffisance rénale aiguë."},"de":{"name":"Hämolytisch-urämisches Syndrom, atypische Form","synonyms":["Atypisches HUS","aHUS"],"definition":"Eine genetisch bedingte thrombotische Mikroangiopathie, die auf einer Dysregulation des alternativen Komplementwegs beruht und durch die Trias aus hämolytischer Anämie, Thrombozytopenie und akuter Nierenfunktionsstörung gekennzeichnet ist."},"es":{"name":"Síndrome hemolítico urémico atípico","synonyms":["SHUa"],"definition":"Es una microangiopatía trombótica genética poco frecuente debida a la desregulación de la vía alternativa del complemento y caracterizada por la tríada de anemia hemolítica, trombocitopenia y disfunción renal aguda."},"it":{"name":"Sindrome emolitico-uremica atipica","synonyms":["D-HUS","HUS atipica","Sindrome emolitico-uremica senza diarrea","aHUS"],"definition":"La sindrome emolitico-uremica atipica (aHUS) è una microangiopatia trombotica rara, di origine genetica, causata dalla disregolazione della via alternativa del complemento e caratterizzata dalla triade anemia emolitica, trombocitopenia e disfunzione renale acuta."},"nl":{"name":"Atypisch hemolytisch-uremisch syndroom","synonyms":["Atypisch HUS","aHUS"],"definition":"Een zeldzame, genetisch trombotische microangiopathie als gevolg van ontregeling van de alternatieve route van het complementsysteem, gekenmerkt door de triade van hemolytische anemie, trombocytopenie, en acute nierdisfunctie."},"pt":{"name":"Síndrome hemolítico urémico forma atípica","definition":"Microangiopatia trombótica genética rara devida à desregulação da via alternativa do complemento e caracterizada pela tríade de anemia hemolítica, trombocitopenia e disfunção renal aguda."},"pl":{"name":"Atypowy zespół hemolityczno-mocznicowy","synonyms":["aHUS","Atypowy HUS","D-HUS","Zespół hemolityczno-mocznicowy bez biegunki"]},"cs":{"name":"Hemolyticko-uremický syndrom, atypické formy","synonyms":["Atypické formy HUS","D- HUS","aHUS","Hemolyticko-uremický syndrom bez průjmu"]},"uk":{"name":"Атиповий гемолітико-уремічний синдром","synonyms":["aHUS","Нетиповий HUS"],"definition":"A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction."},"zh":{"name":"非典型溶血尿毒综合征","synonyms":["非典型HUS"]},"tr":{"name":"Atipik hemolitik üremik sendrom","synonyms":["aHÜS","Atipik HÜS"]}},"xrefs":[{"source":"OMIM","code":"235400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609814","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612922","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612923","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612924","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612925","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612926","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615008","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D59.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1997831581"},{"source":"MONDO","code":"0016244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079840","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":576742,"name":"Genetic hemolytic uremic syndrome","classifications":[156,194]},{"orpha":544458,"name":"Hemolytic uremic syndrome","classifications":[188,233]}],"children":[{"orpha":93581,"name":"Atypical hemolytic uremic syndrome with anti-factor H antibodies","type":"Etiological subtype"},{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"THBD","name":"thrombomodulin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301541[PMID]","hgnc":"11784","ensembl":"ENSG00000178726","omim":"188040","loci":["20p11.21"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}},{"symbol":"C3","name":"complement C3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301541[PMID]","hgnc":"1318","ensembl":"ENSG00000125730","omim":"120700","loci":["19p13.3"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}},{"symbol":"CD46","name":"CD46 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301541[PMID]","hgnc":"6953","ensembl":"ENSG00000117335","omim":"120920","loci":["1q32.2"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}},{"symbol":"CFB","name":"complement factor B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301541[PMID]","hgnc":"1037","ensembl":"ENSG00000243649","omim":"138470","loci":["6p21.33"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}},{"symbol":"CFH","name":"complement factor H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301541[PMID]","hgnc":"4883","ensembl":"ENSG00000000971","omim":"134370","loci":["1q31.3"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}},{"symbol":"CFI","name":"complement factor I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301541[PMID]","hgnc":"5394","ensembl":"ENSG00000205403","omim":"217030","loci":["4q25"],"via":{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality"}}],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United States","status":"Validated","source":"15168377[PMID]_21902819[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0278,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-24","source":"27422619[PMID]_24548192[PMID]","terms":[{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005339","label":"Abnormality of complement system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040229","label":"Decreased level of thrombomodulin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005416","label":"Decreased serum complement factor B","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005356","label":"Decreased serum complement factor I","frequency":"Frequent (79-30%)","criteria":null}]}}