{"orpha":169079,"name":"Cernunnos-XLF deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cernunnos XLFD","Cernunnos deficiency","Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome","NHEJ1 deficiency"],"definition":"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169079/","orphanet_url":"https://www.orpha.net/en/disease/detail/169079","names":{"fr":{"name":"Déficit en cernunnos-XLF","synonyms":["Déficit en NHEJ1","Déficit en cernunnos","Syndrome de déficit immunitaire combiné-microcéphalie-retard de croissance-sensibilité aux radiations ionisantes"],"definition":"Le déficit en cernunnos-XLF est une forme rare de déficit immunitaire combiné caractérisé par une microcéphalie, un retard de croissance, et une lymphopénie des cellules T et B."},"de":{"name":"Cernunnos/XLF-Mangel","synonyms":["Cernunnos XLFD","Cernunnos-Mangel","Immundefekt, kombinierter schwerer - Mikrozephalie - Wachstumsretardierung - Sensitivität gegenüber ionisierender Strahlung","Immundefekt, kombinierter schwerer - Mikrozephalie - Wachstumsretardierung - Strahlenempfindlichkeit","NHEJ1-Mangel"],"definition":"Der Cernunnos-XLF-Mangel ist eine seltene Form des Kombinierten Immundefektes und gekennzeichnet durch Mikrozephalie, Wachstums-Verzögerung und T- und B-Zell-Lymphopenie."},"es":{"name":"Deficiencia de cernunnos-XLF","synonyms":["Cernunnos XLFD","Deficiencia de NHEJ1","Deficiencia de cernunnos","Inmunodeficiencia combinada-microcefalia-retraso del crecimiento-sensibilidad a la radiación ionizante"],"definition":"El déficit de cernunnos-XLF es una forma rara de inmunodeficiencia combinada caracterizada por microcefalia, retraso en el crecimiento, y linfopenia de linfocitos T y B."},"it":{"name":"Deficit di Cernunnos-XLF","synonyms":["Deficit di Cernunnos","Deficit di NHEJ1","Immunodeficienza combinata - microcefalia - ritardo della crescita - sensibilità alle radiazioni ionizzanti","XLFD di Cernunnos"],"definition":"Il deficit di Cernunnos-XLF è una rara forma di immunodeficienza combinata caratterizzata da microcefalia, ritardo della crescita e linfopenia dei linfociti T e B."},"nl":{"name":"Cernunnos-XLF-deficiëntie","synonyms":["Cernunnos XLFD","Cernunnosdeficiëntie","Gecombineerde immuundeficiëntie - microcefalie - groeiachterstand - gevoeligheid voor ioniserende bestraling","NHEJ1-deficiëntie"],"definition":"Cernunnos-XLF-deficiëntie is een zeldzame vorm van gecombineerde immuundeficiëntie gekenmerkt door microcefalie, groeivertraging, en T- en B-cellymfopenie."},"pt":{"name":"Imunodeficiência combinada grave - microcefalia - atraso de crescimento - sensibilidade às radiações ionizantes"},"pl":{"name":"Niedobór Cernunnos-XLF","synonyms":["Cernunnos XLFD","Niedobór białka Cernunnos","Niedobór NHEJ1","Złożony Niedobór odporności - małogłowie - opóźnienie wzrostu - wrażliwość na promieniowanie jonizujące"]},"cs":{"name":"Cernunnos-XLF deficience","synonyms":["Cernunnos XLFD","Cernunnos deficit","Deficit NHEJ1","Syndrom zahrnující kombinovanou imunodeficienci, mikrocefalii, růstovou retardaci a citlivost k ionizujícímu záření"]},"uk":{"name":"Дефіцит сernunnos-XLF","synonyms":["Дефіцит Цернуннаса","Cernunnos XLFD","Комбінований імунодефіцит-мікроцефалія-затримка росту-чутливість до іонізуючого випромінювання","Дефіцит NHEJ1"],"definition":"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia."},"zh":{"name":"Cernunnos-XLF 缺陷","synonyms":["联合免疫缺陷-小头畸形-生长迟缓-电离辐射敏感综合征"],"definition":"Cernunnos-XLF缺乏症是一种罕见的联合免疫缺陷病，其主要临床表现为小头畸形，生长迟缓，T、B淋巴细胞减少。"},"tr":{"name":"Cernunnos-XLF eksikliği","synonyms":["Cernunnos XLFD","NHEJ1 eksikliği","Cernunnos eksikliği","Kombine immün yetmezlik-mikrosefali-büyüme geriliği-iyonlaştırıcı radyasyon sendromuna duyarlılık"]}},"xrefs":[{"source":"OMIM","code":"611291","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"813059965"},{"source":"MONDO","code":"0012650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303792","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":720308,"name":"T-B-NK+ severe combined immunodeficiency with microcephaly","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"NHEJ1","name":"non-homologous end joining factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25737","ensembl":"ENSG00000187736","omim":"611290","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000320","label":"Bird-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null}]}}