{"orpha":714496,"name":"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714496/","orphanet_url":"https://www.orpha.net/en/disease/detail/714496","names":{"fr":{"name":"Syndrome de déficit immunitaire-thrombocytopénie congénitale- hyperéosinophilie-colite-vascularite","synonyms":["Syndrome de déficit immunitaire-thrombocytopénie congénitale- hyperéosinophilie-colite-vascularite associé à ARPC1B"]},"de":{"name":"Immundefekt-kongenitale Thrombozytopenie-Hypereosinophilie-Kolitis-Vaskulitis-Syndrom","synonyms":["ARPC1B-Defizienz"]},"es":{"name":"Síndrome de inmunodeficiencia-trombocitopenia congénita-hipereosinofilia-colitis-vasculitis","synonyms":["Síndrome de hipereosinofilia-trombocitopenia congénita-colitis-vasculitis asociado a ARPC1B"]},"it":{"name":"Sindrome immunodeficienza-trombocitopenia congenita-ipereosinofilia-colite-vasculite","synonyms":["Sindrome ipereosinofilia-trombocitopenia congenita-colite-vasculite correlata ad ARPC1B"]},"nl":{"name":"Immuundeficiëntie - congenitale trombocytopenie - hypereosinofilie - colitis - vasculitis-syndroom","synonyms":["ARPC1B-gerelateerd hypereosinofilie - congenitale trombocytopenie - colitis - vasculitis-syndroom"]},"pt":{"name":"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome"},"pl":{"name":"Zespół niedoboru odporności, wrodzonej małopłytkowości, hipereozynofilii, zapalenia jelita grubego i zapalenia naczyń","synonyms":["ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome"]},"cs":{"name":"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome","synonyms":["ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome"]}},"xrefs":[{"source":"OMIM","code":"617718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","classifications":[156,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"ARPC1B","name":"actin related protein 2/3 complex subunit 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28368018[PMID]","hgnc":"704","ensembl":"ENSG00000130429","omim":"604223","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}