{"orpha":723161,"name":"Combined immunodeficiency due to NFATC1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to NFATC1 deficiency","Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-723161/","orphanet_url":"https://www.orpha.net/en/disease/detail/723161","names":{"fr":{"name":"Déficit immunitaire combiné par déficience en protéine NFATC1","synonyms":["DIC par déficit en NFATC1","CID par déficit en NFATC1","Déficit immunitaire combiné par déficit en protéine nuclear factor of activated T-cells 1"]},"de":{"name":"Kombinierter Immundefekt durch NFATC1-Mangel","synonyms":["CID durch NFATC1-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de NFATC1","synonyms":["Inmunodeficiencia combinada por deficiencia del factor nuclear de células T activadas 1","CID por deficiencia de NFATC1","IDC por deficiencia de NFATC1"]},"it":{"name":"Immunodeficienza combinata da deficit di NFATC1","synonyms":["DIC da deficit di NFATC1","Immunodeficienza combinata da deficit del fattore nucleare delle cellule T attivate 1"]},"nl":{"name":"Gecombineerde immuundeficiëntie door NFATC1-deficiëntie","synonyms":["CID door NFATC1-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van nucleaire factor van geactiveerde T-cellen 1","Gecombineerde immuundeficiëntie door deficiëntie van 'nuclear factor of activated T-cells 1'"]},"pt":{"name":"Combined immunodeficiency due to NFATC1 deficiency"},"pl":{"name":"Combined immunodeficiency due to NFATC1 deficiency","synonyms":["CID due to NFATC1 deficiency","Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency"]},"cs":{"name":"Combined immunodeficiency due to NFATC1 deficiency","synonyms":["CID due to NFATC1 deficiency","Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency"]}},"xrefs":[],"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":"NFATC1","name":"nuclear factor of activated T cells 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37249233[PMID]","hgnc":"7775","ensembl":"ENSG00000131196","omim":"600489","loci":["18q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"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}