{"orpha":656283,"name":"Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR CID due to complete GP130 deficiency","AR CID due to complete IL6ST deficiency","Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency","Stüve-Wiedemann syndrome type 2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656283/","orphanet_url":"https://www.orpha.net/en/disease/detail/656283","names":{"fr":{"name":"Déficit immunitaire combiné autosomique récessif par déficit complet en IL6ST","synonyms":["CID autosomique récessif par déficit complet en GP130","CID autosomique récessif par déficit complet en IL6ST","DIC autosomique récessif par déficit complet en GP130","DIC autosomique récessif par déficit complet en IL6ST","Déficit immunitaire combiné autosomique récessif par déficit complet en glycoprotéine 130","Déficit immunitaire combiné autosomique récessif par déficit complet en interleukin 6 signal transducer","Immunodéficience combinée autosomique récessive par déficit complet en GP130","Immunodéficience combinée autosomique récessive par déficit complet en IL6ST","Syndrome de Stüve-Wiedemann type 2"]},"de":{"name":"Kombinierter Immundefekt, autosomal-rezessiver, durch vollständigen IL6ST-Mangel","synonyms":["AR-CID durch kompletten IL6ST-Mangel","Autosomal-rezessiver kombinierter Immundefekt aufgrund eines vollständigen Mangels an Glykoprotein 130","Hyper-IgE-Syndrom, autosomal-rezessives, durch IL6ST-Defizienz","Kombinierter Immundefekt durch vollständigen IL6ST-Defekt"]},"es":{"name":"Inmunodeficiencia combinada autosómica recesiva por deficiencia completa de IL6ST","synonyms":["IDC AR por deficiencia completa de GP130","IDC AR por deficiencia completa de IL6ST","Inmunodeficiencia combinada autosómica recesiva por deficiencia completa de glicoproteína 130","Inmunodeficiencia combinada autosómica recesiva por deficiencia completa de la proteína trasductora de señal IL6","Síndrome de Stüve-Wiedemann tipo 2"]},"it":{"name":"Immunodeficienza combinata autosomica recessiva da deficit completo di IL6ST","synonyms":["AR CID da deficit completo di GP130","AR CID da deficit completo di IL6ST","CID AR da deficit completo di GP130","CID AR da deficit completo di IL6ST","Immunodeficienza combinata autosomica recessiva da deficit completo della glicoproteina 130","Immunodeficienza combinata autosomica recessiva da deficit completo della proteina che trasduce il segnale di IL6","Immunodeficienza combinata autosomica recessiva da deficit completo della proteina del trasduttore del segnale IL6","Immunodeficienza combinata autosomica recessiva da deficit completo di glicoproteina 130","Sindrome di Stüve-Wiedemann tipo 2"]},"nl":{"name":"Autosomaal recessieve gecombineerde immuundeficiëntie door volledige IL6ST-deficiëntie","synonyms":["AR CID door volledige GP130-deficiëntie","AR CID door volledige IL6ST-deficiëntie","Autosomaal recessieve gecombineerde immuundeficiëntie door volledige deficiëntie van glycoproteïne 130","Autosomaal recessieve gecombineerde immuundeficiëntie door volledige deficiëntie van signaaltransductieproteïne interleukine 6"]},"pt":{"name":"Imunodeficiência combinada autossómica recessiva por deficiência completa de IL6ST","synonyms":["CID AR por deficiência completa de GP130","CID AR por deficiência completa de IL6ST","Imunodeficiência combinada autossómica recessiva por deficiência completa da proteina transdutora de sinal IL6","Imunodeficiência combinada autossómica recessiva por deficiência completa de glicoproteina 130"]},"pl":{"name":"Autosomalny recesywny złożony niedobór odporności spowodowany całkowitym niedoborem IL6ST","synonyms":["AR CID due to complete GP130 deficiency","AR CID due to complete IL6ST deficiency","Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency","Stüve-Wiedemann syndrome type 2"]},"cs":{"name":"Autozomálně recesivní kombinovaná imunodeficience způsobená kompletním deficitem IL6ST","synonyms":["AR CID due to complete GP130 deficiency","AR CID due to complete IL6ST deficiency","Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency","Stüve-Wiedemann syndrome type 2"]},"uk":{"name":"Аутосомно-рецесивний комбінований імунодефіцит, зумовлений повною недостатністю IL6ST","synonyms":["АР КІД через повну недостатність GP130","АР КІД внаслідок повного дефіциту IL6ST","Аутосомно-рецесивний комбінований імунодефіцит, зумовлений повною недостатністю глікопротеїну 130","Аутосомно-рецесивний комбінований імунодефіцит, зумовлений повним дефіцитом білка трансдуктора сигналу IL6","Синдром Стьюве-Відемана, тип 2"]}},"xrefs":[{"source":"OMIM","code":"619751","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.32","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"LD24.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958115","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925103","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IL6ST","name":"interleukin 6 cytokine family signal transducer","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35748970[PMID]","hgnc":"6021","ensembl":"ENSG00000134352","omim":"600694","loci":["5q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}