{"orpha":544472,"name":"Atypical hemolytic uremic syndrome with complement gene abnormality","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Atypical HUS with complement gene abnormality","aHUS with complement gene abnormality"],"definition":null,"note":"This disease is described under Atypical hemolytic uremic syndrome","url":"https://raremap.alftech.space/d/ORPHA-544472/","orphanet_url":"https://www.orpha.net/en/disease/detail/544472","names":{"fr":{"name":"Syndrome hémolytique et urémique atypique lié à une anomalie d'un gène du complément","synonyms":["SHU atypique lié à une anomalie d'un gène du complément","aHUS lié à une anomalie d'un gène du complément"]},"de":{"name":"Atypisches hämolytisch-urämisches Syndrom mit Komplement-Gen-Anomalie","synonyms":["aHUS bei Komplement-Gen-Anomalie"]},"es":{"name":"Síndrome hemolítico urémico atípico con anomalías en los genes del complemento","synonyms":["SHUa con anomalías en los genes del complemento","SUH atípico con anomalías en los genes del complemento"]},"it":{"name":"Sindrome emolitico-uremica atipica con mutazione in un gene del complemento","synonyms":["HUS atipica da anomalia di un gene del complemento","aHUS da anomalia di un gene del complemento"]},"nl":{"name":"Atypisch hemolytisch-uremisch syndroom met afwijking van gen van complementsysteem","synonyms":["Atypisch HUS met afwijking van gen van complementsysteem","aHUS met afwijking van gen van complementsysteem"]},"pt":{"name":"Síndrome hemolítico-urémico atípico com anomalias dos genes do complemento","synonyms":["HUS atípico com anomalias genéticas do complemento"]},"pl":{"name":"Atypowy zespół mocznicowy hemolityczny z defektem genu dopełniacza","synonyms":["Atypical HUS with complement gene abnormality","aHUS with complement gene abnormality"]},"cs":{"name":"Atypický hemolyticko-uremický syndrom s abnormalitou genu komplementu","synonyms":["aHUS s abnormalitou genu komplementu"]},"uk":{"name":"Атиповий гемолітико-уремічний синдром з аномалією гена комплементу","synonyms":["aHUS з аномалією гена комплементу","Атиповий HUS з аномалією гена комплементу"]},"zh":{"name":"补体基因异常的非典型溶血性尿毒症综合征","synonyms":["Atypical HUS with complement gene abnormality","aHUS with complement gene abnormality"]},"tr":{"name":"Kompleman gen anormalliği ile seyreden atipik hemolitik üremik sendrom","synonyms":["Kompleman gen anormalliği ile seyreden aHUS"]}},"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":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035290","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680166","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93575,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly","status":"inactive"},{"type":"Referred to","orpha":93576,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly","status":"inactive"},{"type":"Referred to","orpha":93578,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly","status":"inactive"},{"type":"Referred to","orpha":93579,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly","status":"inactive"},{"type":"Referred to","orpha":93580,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly","status":"inactive"},{"type":"Referred to","orpha":217023,"name":"OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":2134,"name":"Atypical hemolytic uremic syndrome","classifications":[156,188,194,233]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}