{"orpha":718017,"name":"Combined immunodeficiency due to COPG1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to COPG1 deficiency","Combined immunodeficiency due to coat complex subunit gamma 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-718017/","orphanet_url":"https://www.orpha.net/en/disease/detail/718017","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en protéine COPG1","synonyms":["CID par déficit en COPG1","DIC par déficit en COPG1","Déficit immunitaire combiné par déficit en protéine coat complex subunit gamma 1","Immunodéficience combinée par déficit en protéine COPG1"]},"de":{"name":"Immundefekt, kombinierter, durch COPG1-Mangel","synonyms":["CID durch COPG1-Defizienz","Kombinierter Immundefekt durch Defekt der Gamma-1-Untereinheit des COPI-Coatomer"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de COPG1","synonyms":["CID por deficiencia de COPG1","IDC por deficiencia de COPG1","Inmunodeficiencia combinada por deficiencia de la subunidad gamma 1 del complejo coatómero"]},"it":{"name":"Immunodeficienza combinata da deficit di COPG1","synonyms":["CID da deficit di COPG1","Immunodeficienza combinata da deficit della subunità gamma 1 del complesso di rivestimento"]},"nl":{"name":"Gecombineerde immuundeficiëntie door COPG1-deficiëntie","synonyms":["CID door COPG1-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van 'coat complex' subeenheid gamma 1"]},"pt":{"name":"Combined immunodeficiency due to COPG1 deficiency"},"pl":{"name":"Combined immunodeficiency due to COPG1 deficiency","synonyms":["CID due to COPG1 deficiency","Combined immunodeficiency due to coat complex subunit gamma 1 deficiency"]},"cs":{"name":"Combined immunodeficiency due to COPG1 deficiency","synonyms":["CID due to COPG1 deficiency","Combined immunodeficiency due to coat complex subunit gamma 1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"620983","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688563,"name":"Combined immunodeficiency with normal Ig and poor specific antibody response","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"COPG1","name":"coat protein complex I subunit gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33529166[PMID]","hgnc":"2236","ensembl":"ENSG00000181789","omim":"615525","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"33529166[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33529166[PMID]_ORPHANET"}],"phenotypes":null}