{"orpha":696945,"name":"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked CVID phenotype due to SH3KBP1 deficiency","X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696945/","orphanet_url":"https://www.orpha.net/en/disease/detail/696945","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable lié à l'X par déficit en SH3KBP1","synonyms":["Phénotype d'immunodéficience commune variable lié à l'X par déficit en SH3KBP1","Phénotype de CVID lié à l'X par déficit en SH3KBP1","Phénotype de DICV lié à l'X par déficit en SH3KBP1","Phénotype de déficit imunitaire commun variable lié à l'X par déficit en protéine SH3-domain kinase-binding protein 1"]},"de":{"name":"Variables Immundefekt-Syndrom durch SH3KBP1-Mangel","synonyms":["CVID durch SH3KBP1-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable ligada al cromosoma X por deficiencia de SH3KBP1","synonyms":["Fenotipo de IDCV ligada al cromosoma X por deficiencia de SH3KBP1","Fenotipo de inmunodeficiencia común variable ligada al cromosoma X por deficiencia de la proteína 1 de unión a la cinasa del dominio SH3"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile legata all'X da deficit di SH3KBP1","synonyms":["Fenotipo della CVID legata all'X da deficit di SH3KBP1","Fenotipo dell’immunodeficienza comune variabile legata all'X da deficit della proteina 1 legante la chinasi del dominio SH3"]},"nl":{"name":"Fenotype van X-gebonden gewone variabele immuundeficiëntie door SH3KBP1-deficiëntie","synonyms":["Fenotype van X-gebonden gewone variabele immuundeficiëntie door deficiëntie van SH3-domein kinase-bindingsproteïne 1","X-gebonden CVID-fenotype door SH3KBP1-deficiëntie"]},"pt":{"name":"Common variable immunodeficiency phenotype due to SH3KBP1 deficiency"},"pl":{"name":"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency","synonyms":["X-linked CVID phenotype due to SH3KBP1 deficiency","X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency"]},"cs":{"name":"X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency","synonyms":["X-linked CVID phenotype due to SH3KBP1 deficiency","X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"300310","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":"SH3KBP1","name":"SH3 domain containing kinase binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29636373[PMID]","hgnc":"13867","ensembl":"ENSG00000147010","omim":"300374","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"29636373[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29636373[PMID]_ORPHANET"}],"phenotypes":null}