{"orpha":379,"name":"Chronic granulomatous disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CGD","Chronic septic granulomatosis"],"definition":"A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-379/","orphanet_url":"https://www.orpha.net/en/disease/detail/379","names":{"fr":{"name":"Granulomatose chronique","synonyms":["CGD","Granulomatose septique chronique"],"definition":"Une immunodéficience primaire rare, affectant principalement les phagocytes, qui se caractérise par une susceptibilité accrue aux infections bactériennes et fongiques sévères et récurrentes, et par le développement de granulomes."},"de":{"name":"Granulomatose, chronische","synonyms":["CGD","Chronische septische Granulomatose"],"definition":"Ein seltener primärer Immundefekt, der hauptsächlich die Phagozyten betrifft und durch eine erhöhte Anfälligkeit für schwere und wiederkehrende bakterielle und Pilzinfektionen sowie die Entwicklung von Granulomen gekennzeichnet ist."},"es":{"name":"Enfermedad granulomatosa crónica","synonyms":["CGD","Granulomatosis séptica crónica"],"definition":"Es una inmunodeficiencia primaria poco frecuente que afecta principalmente a los fagocitos, y se caracteriza por una elevada susceptibilidad a las infecciones fúngicas y bacterianas graves y recurrentes, junto con el desarrollo de granulomas."},"it":{"name":"Malattia granulomatosa cronica","synonyms":["CGD","Granulomatosi settica cronica"],"definition":"La malattia granulomatosa cronica (CGD) è un'immunodeficienza primitiva rara, che interessa per lo più i fagociti, ed è caratterizzata dalla suscettibilità alle infezioni batteriche e micotiche gravi e ricorrenti, e dalla presenza di granulomi."},"nl":{"name":"Chronische granulomateuze ziekte","synonyms":["CGD","Chronische septische granulomatose"],"definition":"Een zeldzame primaire immuundeficiëntie die vooral fagocyten aantast, gekarakteriseerd door verhoogde susceptibiliteit voor ernstige en recidiverende bacteriële en fungale infecties, samen met ontwikkeling van granulomen."},"pt":{"name":"Doença granulomatosa crónica"},"pl":{"name":"Przewlekła choroba ziarniniakowa","synonyms":["CGD","Przewlekła septyczna choroba ziarniniakowa"],"definition":"Rzadki pierwotny niedobór odporności, dotyczący głównie fagocytów, który charakteryzuje się zwiększoną podatnością na ciężkie i nawracające zakażenia bakteryjne i grzybicze praz rozwojem ziarniniaków."},"cs":{"name":"Chronická granulomatóza","synonyms":["CGD","Chronická septická granulomatóza","Chronická granulomatózní choroba"]},"uk":{"name":"Хронічна гранулематозна хвороба","synonyms":["CGD","Хронічний септичний гранулематоз"],"definition":"A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas."},"zh":{"name":"慢性肉芽肿病","synonyms":["慢性脓毒性肉芽肿病"]},"tr":{"name":"Kronik granülomatöz hastalığı","synonyms":["CGD","Kronik septik granülomatoz"]}},"xrefs":[{"source":"OMIM","code":"233690","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"233700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"233710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"306400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613960","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618935","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D71","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1329764681"},{"source":"MONDO","code":"0018305","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018203","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008906","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":674896,"name":"Non-syndromic congenital phagocyte functional defect","classifications":[156,195]},{"orpha":522504,"name":"Rare genetic disorder of the visual organs","classifications":[156]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":264714,"name":"Secondary interstitial lung disease specific to childhood associated with a granulomatous disease","classifications":[184,233]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]},{"orpha":280933,"name":"Systemic diseases with panuveitis","classifications":[189]},{"orpha":280930,"name":"Systemic diseases with posterior uveitis","classifications":[189]}],"children":[],"genes":[{"symbol":"CYBC1","name":"cytochrome b-245 chaperone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30361506[PMID]","hgnc":"28672","ensembl":"ENSG00000178927","omim":"618334","loci":["17q25.3"]},{"symbol":"CYBA","name":"cytochrome b-245 alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876374[PMID]","hgnc":"2577","ensembl":"ENSG00000051523","omim":"608508","loci":["16q24.2"]},{"symbol":"CYBB","name":"cytochrome b-245 beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876374[PMID]","hgnc":"2578","ensembl":"ENSG00000165168","omim":"300481","loci":["Xp21.1-p11.4"]},{"symbol":"NCF1","name":"neutrophil cytosolic factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876374[PMID]","hgnc":"7660","ensembl":"ENSG00000158517","omim":"608512","loci":["7q11.23"]},{"symbol":"NCF2","name":"neutrophil cytosolic factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876374[PMID]","hgnc":"7661","ensembl":"ENSG00000116701","omim":"608515","loci":["1q25.3"]},{"symbol":"NCF4","name":"neutrophil cytosolic factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876374[PMID]","hgnc":"7662","ensembl":"ENSG00000100365","omim":"601488","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United States","status":"Validated","source":"10844935[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"United States","status":"Not yet validated","source":"10844935[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"United Kingdom","status":"Validated","source":"18410635[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"United Kingdom","status":"Validated","source":"18410635[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.57,"area":"France","status":"Validated","source":"20700078[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"20700078[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Sweden","status":"Validated","source":"8645957[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Sweden","status":"Validated","source":"8645957[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Italy","status":"Validated","source":"18037347[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Italy","status":"Validated","source":"18037347[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Denmark","status":"Validated","source":"18708296[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Denmark","status":"Validated","source":"18708296[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Netherlands","status":"Validated","source":"18708296[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Netherlands","status":"Validated","source":"18708296[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Australia","status":"Validated","source":"9314356[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Japan","status":"Validated","source":"10530081[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Japan","status":"Validated","source":"10530081[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Korea, Republic of","status":"Validated","source":"22787376[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Korea, Republic of","status":"Validated","source":"22787376[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.99,"area":"Latin America","status":"Validated","source":"17191150[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Latin America","status":"Validated","source":"17191150[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"Israel","status":"Validated","source":"18708296[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Israel","status":"Validated","source":"18708296[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}