{"orpha":696942,"name":"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Childhood-onset CVID phenotype due to ARHGEF1 deficiency","Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696942/","orphanet_url":"https://www.orpha.net/en/disease/detail/696942","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable de l'enfance par déficit en ARGHGEF1","synonyms":["Phénotype de CVID de l'enfance par déficit en ARHGEF1","Phénotype de DICV de l'enfance par déficit en ARHGEF1","Phénotype de déficit immunitaire commun variable de l'enfance par déficit en Rho guanine exchange factor 1"]},"de":{"name":"Variables Immundefekt-Syndrom durch ARHGEF1-Mangel mit Beginn im Kindesalter","synonyms":["CVID durch ARHGEF1-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia de ARHGEF1 de inicio en la infancia","synonyms":["Fenotipo de CVID por deficiencia de ARHGEF1 de inicio en la infancia","Fenotipo de IDCV por deficiencia de ARHGEF1 de inicio en la infancia","Fenotipo de inmunodeficiencia común variable por deficiencia del factor de intercambio de nucleótidos de guanina Rho 1 de inicio en la infancia"]},"it":{"name":"Fenotipo dell'immunodeficienza comune variabile ad esordio infantile da deficit di ARHGEF1","synonyms":["Fenotipo della CVID ad esordio infantile da deficit di ARHGEF1","Fenotipo dell’immunodeficienza comune variabile ad esordio infantile da deficit del fattore 1 di scambio guanina nucleotide Rho","Fenotipo dell'immunodeficienza comune variabile ad esordio infantile da deficit del fattore 1 di scambio del nucleotide guanina Rho"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door ARHGEF1-deficiëntie met aanvang in de kindertijd","synonyms":["Fenotype van gewone variabele immuundeficiëntie door deficiëntie van Rho-guaninenucleotide-uitwisselingsfactor 1 met aanvang in de kindertijd","CVID-fenotype door ARHGEF1-deficiëntie met aanvang in de kindertijd"]},"pt":{"name":"Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency"},"pl":{"name":"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency","synonyms":["Childhood-onset CVID phenotype due to ARHGEF1 deficiency","Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency"]},"cs":{"name":"Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency","synonyms":["Childhood-onset CVID phenotype due to ARHGEF1 deficiency","Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"618459","qualifier":"E","icd_relation":null,"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":"ARHGEF1","name":"Rho guanine nucleotide exchange factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30521495[PMID]","hgnc":"681","ensembl":"ENSG00000076928","omim":"601855","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"30521495[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30521495[PMID]_ORPHANET"}],"phenotypes":null}