{"orpha":697394,"name":"Combined immunodeficiency due to c-REL deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to c-REL deficiency","Combined immunodeficiency due to cellular homolog of v-Rel deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697394/","orphanet_url":"https://www.orpha.net/en/disease/detail/697394","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en c-REL","synonyms":["CID par déficit en c-REL","DIC par déficit en c-REL","Déficit immunitaire combiné par déficit en protéine cellular homolog of v-Rel","Immunodéficience combinée par déficit en c-REL"]},"de":{"name":"Immundefekt, kombinierter, durch c-REL-Mangel","synonyms":["CID durch c-REL-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de c-REL","synonyms":["IDC por deficiencia de c-REL","Inmunodeficiencia combinada por deficiencia del homólogo celular de v-Rel"]},"it":{"name":"Immunodeficienza combinata da deficit di c-REL","synonyms":["CID da deficit di c-REL","Immunodeficienza combinata da deficit dell'omologo cellulare di v-Rel"]},"nl":{"name":"Gecombineerde immuundeficiëntie door c-REL-deficiëntie","synonyms":["CID door c-REL-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van cellulair homoloog van v-Rel"]},"pt":{"name":"Combined immunodeficiency due to c-REL deficiency"},"pl":{"name":"Combined immunodeficiency due to c-REL deficiency","synonyms":["CID due to c-REL deficiency","Combined immunodeficiency due to cellular homolog of v-Rel deficiency"]},"cs":{"name":"Combined immunodeficiency due to c-REL deficiency","synonyms":["CID due to c-REL deficiency","Combined immunodeficiency due to cellular homolog of v-Rel deficiency"]}},"xrefs":[{"source":"OMIM","code":"619652","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"REL","name":"REL proto-oncogene, NF-kB subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31103457[PMID]","hgnc":"9954","ensembl":"ENSG00000162924","omim":"164910","loci":["2p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"31103457[PMID]_34623332[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31103457[PMID]_34623332[PMID]_ORPHANET"}],"phenotypes":null}