{"orpha":697417,"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID due to SEC61A1 deficiency","Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697417/","orphanet_url":"https://www.orpha.net/en/disease/detail/697417","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en SEC61A1","synonyms":["Phénotype d'immunodéficience commune variable par déficit en SEC61A1","Phénotype de CVID par déficit en SEC61A1","Phénotype de DICV par déficit en SEC61A1","Phénotype de déficit immunitaire commun variable par déficit en SEC61 complex, alpha 1 subunit"]},"de":{"name":"Variables Immundefekt-Syndrom durch SEC61A1-Mangel","synonyms":["CVID durch SEC61A1-Defizienz"]},"es":{"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency"},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit di SEC61A1","synonyms":["CVID da deficit di SEC61A1","Fenotipo dell’immunodeficienza comune variabile da deficit del complesso SEC61, subunità alfa-1"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door SEC61A1-deficiëntie","synonyms":["CVID-fenotype door SEC61A1-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van SEC61-complex, alfa-1 subeenheid"]},"pt":{"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency","synonyms":["CVID due to SEC61A1 deficiency","Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency"]},"cs":{"name":"Common variable immunodeficiency phenotype due to SEC61A1 deficiency","synonyms":["CVID due to SEC61A1 deficiency","Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency"]}},"xrefs":[{"source":"OMIM","code":"620670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SEC61A1","name":"SEC61 translocon subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28782633[PMID]","hgnc":"18276","ensembl":"ENSG00000058262","omim":"609213","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"28782633[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28782633[PMID]_ORPHANET"}],"phenotypes":null}