{"orpha":696931,"name":"Common variable immunodeficiency phenotype due to TWEAK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID phenotype due to TWEAK deficiency","Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696931/","orphanet_url":"https://www.orpha.net/en/disease/detail/696931","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en TWEAK","synonyms":["Phénotype d'immunodéficience commune variable par déficit en TWEAK","Phénotype de CVID par déficit en TWEAK","Phénotype de DICV par déficit en TWEAK","Phénotype de déficit immunitaire commun variable par déficit en protéine TNF-related weak inducer of apoptosis"]},"de":{"name":"Variables Immundefekt-Syndrom durch TWEAK-Mangel","synonyms":["CVID durch TWEAK-Defizienz","TWEAK-Defekt"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia de TWEAK","synonyms":["Fenotipo de IDCV por deficiencia de TWEAK","Fenotipo de inmunodeficiencia común variable por inductor débil de apoptosis similar al TNF"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit di TWEAK","synonyms":["CVID da deficit di TWEAK","Fenotipo dell’immunodeficienza comune variabile da induttore debole dell’apoptosi correlato al TNF"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door TWEAK-deficiëntie","synonyms":["CVID-fenotype door TWEAK-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van TNF-gerelateerde zwakke inducer van apoptose"]},"pt":{"name":"Common variable immunodeficiency phenotype due to TWEAK deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to TWEAK deficiency","synonyms":["CVID phenotype due to TWEAK deficiency","Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis"]},"cs":{"name":"Common variable immunodeficiency phenotype due to TWEAK deficiency","synonyms":["CVID phenotype due to TWEAK deficiency","Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis"]}},"xrefs":[],"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":"TNFSF12","name":"TNF superfamily member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23493554[PMID]","hgnc":"11927","ensembl":"ENSG00000239697","omim":"602695","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"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}