{"orpha":566175,"name":"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CD55 deficiency","CHAPLE syndrome"],"definition":"A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566175/","orphanet_url":"https://www.orpha.net/en/disease/detail/566175","names":{"fr":{"name":"Syndrome d'hyperactivation du complément-thrombose-entéropathie avec perte de protéines","synonyms":["Déficit en CD55","Syndrome CHAPLE"],"definition":"Maladie génétique rare caractérisée par un déficit en CD55 avec hyperactivation du complément, angiopathie thrombotique et entéropathie par perte de protéines avec douleurs abdominales, diarrhées, vomissements, lymphangiectasie intestinale primitive, oedème secondaire à une hypoprotéinémie et malabsorption, conduisant à une anémie et à un retard de croissance. Une inflammation intestinale et des infections récurrentes associées à l'hypogammaglobulinémie peuvent également être observées."},"de":{"name":"Komplement-Hyperaktivierung-angiopathische Thrombose-Eiweißverlustenteropathie-Syndrom","synonyms":["CD55-Defizienz","CHAPLE-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch CD55-Mangel mit Komplement-Hyperaktivierung, angiopathischer Thrombose und Proteinverlust-Enteropathie mit Bauchschmerzen, Durchfall, Erbrechen, primärer intestinaler Lymphangiektasie, hypoproteinämischem Ödem und Malabsorption gekennzeichnet ist und zu Anämie und Wachstumsverzögerung führt. Darmentzündungen und wiederkehrende Infektionen, die mit Hypogammaglobulinämie einhergehen, können ebenfalls beobachtet werden."},"es":{"name":"Síndrome de hiperactivación del complemento-trombosis angiopática-enteropatía perdedora de proteínas","synonyms":["Deficiencia de CD55","Síndrome CHAPLE"],"definition":"Es una enfermedad genética poco frecuente caracterizada por deficiencia de CD55 con hiperactivación del complemento, trombosis angiopática y enteropatía perdedora de proteínas con dolor abdominal, diarrea, vómitos, linfangiectasia intestinal primaria, edema hipoproteinémico y malabsorción, que deriva en anemia y retraso del crecimiento. También se ha descrito inflamación intestinal e infecciones recurrentes asociadas a hipogammaglobulinemia."},"it":{"name":"Sindrome da iperattivazione del complemento, trombosi angiopatica, enteropatia con perdita di proteine","synonyms":["Deficit di CD55","Sindrome CHAPLE"]},"nl":{"name":"Hyperactivatie van complementsysteem - angiopathische trombose - proteïneverliezende enteropathie-syndroom","synonyms":["CD55-deficiëntie","CHAPLE-syndroom"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door CD55-deficiëntie met hyperactivatie van complementsysteem, angiopathische trombose, en eiwitverliezende enteropathie met abdominale pijn, diarree, braken, primaire intestinale lymfangiëctasie, hypoproteïnemisch oedeem, en malabsorptie, met anemie en groeiachterstand tot gevolg. Inflammatie van darm en recidiverende infecties geassocieerd met hypogammaglobulinemie worden mogelijk ook waargenomen."},"pt":{"name":"Síndrome de hiperactivação do complemento-trombose angiopática-enteropatia com perda de proteína","synonyms":["Deficiência de CD55","Síndrome CHAPLE"],"definition":"Doença genética rara caracterizada por deficiência de CD55 com hiperativação do complemento, trombose angiopática e enteropatia perdedora de proteínas com dor abdominal, diarreia, vómitos, linfangiectasia intestinal primária, edema hipoproteinémico e má absorção, levando a anemia e atraso de crescimento. Também podem ser observadas inflamação intestinal e infeções recorrentes associadas à hipogamaglobulinemia."},"pl":{"name":"Zespół hiperaktywacji dopełniacza, zakrzepicy angiopatycznej i enteropatii z utratą białka","synonyms":["Niedobór dopełniacza D55","Zespół CHAPLE"]},"cs":{"name":"Syndrom zahrnující hyperaktivaci komplementu, angiopatickou trombózu, ztrátu bílkovin a enteropatii","synonyms":["CD55 deficiency","CHAPLE syndrome"]},"uk":{"name":"Синдром гіперактивації комплементу - ангіопатичний тромбоз - ентеропатія з втратою білка","synonyms":["Дефіцит CD55","Синдром CHAPLE"],"definition":"A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed."},"zh":{"name":"补体过度激活-血管病性血栓形成-蛋白丢失性肠病综合征","synonyms":["CHAPLE syndrome"]},"tr":{"name":"Tamamlayıcı hiperaktivasyon-anjiyopatik tromboz-protein kaybeden enteropati sendromu","synonyms":["CD55 eksikliği","CHAPLE sendromu"]}},"xrefs":[{"source":"OMIM","code":"226300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA96.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4538570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":36204,"name":"Intestinal lymphangiectasia","classifications":[152]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CD55","name":"CD55 molecule (Cromer blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30565236[PMID]","hgnc":"2665","ensembl":"ENSG00000196352","omim":"125240","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30565236[PMID]_28657829[PMID]_28657861[PMID]"}],"phenotypes":null}