{"orpha":2686,"name":"Cyclic neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2686/","orphanet_url":"https://www.orpha.net/en/disease/detail/2686","names":{"fr":{"name":"Neutropénie cyclique","definition":"Déficit immunitaire primaire rare caractérisé par des oscillations régulières du nombre de neutrophiles dans le sang, allant de niveaux physiologiques ou subnormaux à une neutropénie grave, généralement avec une durée de cycle d'environ 21 jours. Les principaux symptômes de la phase neutropénique comprennent la fièvre, les aphtes ainsi que la pneumonie et la péritonite. La maladie est transmise selon le mode autosomique dominant."},"de":{"name":"Neutropenie, zyklische","definition":"Ein seltener primärer Immundefekt, der durch regelmäßige Schwankungen der Neutrophilenzahl im Blut von normalen oder subnormalen Werten bis hin zu einer schweren Neutropenie gekennzeichnet ist, in der Regel mit einer Zykluslänge von etwa 21 Tagen. Zu den Symptomen während der neutropenischen Phase gehören unter anderem Fieber, Mundgeschwüre, aber auch Lungenentzündung und Peritonitis. Der Vererbungsmodus ist autosomal-dominant."},"es":{"name":"Neutropenia cíclica","definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por oscilaciones periódicas en los recuentos de neutrófilos en sangre variando desde niveles normales o ligeramente disminuidos hasta neutropenia grave, por lo general, siguiendo un ciclo de 21 días, aproximadamente. Los síntomas durante la fase neutropénica incluyen fiebre y úlceras bucales, aunque también neumonía y peritonitis, entre otros. El modo de herencia es autosómico dominante."},"it":{"name":"Neutropenia ciclica","definition":"Si tratta di un'immunodeficienza primitiva rara, caratterizzata da fluttuazioni regolari del numero dei neutrofili nel sangue, che oscillano tra livelli normali o subnormali, e la neutropenia grave; di solito ogni ciclo dura circa 21 giorni. Nella fase neutropenica, i sintomi comprendono la febbre, le ulcere del cavo orale, la polmonite e la peritonite. La trasmissione è autosomica dominante."},"nl":{"name":"Cyclische neutropenie","definition":"Een zeldzame primaire immuundeficiëntie, gekarakteriseerd door regelmatige schommelingen van het aantal neutrofielen in bloed van normale of subnormale niveaus tot ernstige neutropenie, meestal met een lengte van de cyclus van 21 dagen. Symptomen tijdens de neutropene fase zijn onder meer koorts, mondzweren, maar ook pneumonie en peritonitis. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Neutropenia cíclica"},"pl":{"name":"Neutropenia cykliczna"},"cs":{"name":"Cyklické neutropenie"},"uk":{"name":"Циклічна нейтропенія","definition":"A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant."},"zh":{"name":"周期性粒细胞减少症"},"tr":{"name":"Siklik nötropeni"}},"xrefs":[{"source":"OMIM","code":"162800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1137117833"},{"source":"MONDO","code":"0008090","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536227","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221023","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6229","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053176","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2689,"name":"Intermittent neutropenia","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101987,"name":"Congenital neutropenia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"ELANE","name":"elastase, neutrophil expressed","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14673143[PMID]_10581030[PMID]","hgnc":"3309","ensembl":"ENSG00000197561","omim":"130130","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-05","source":"32491328[PMID]_20301705[PMID]","terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040289","label":"Cyclic neutropenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032323","label":"Periodic fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006308","label":"Atrophy of alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031891","label":"Decreased eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031690","label":"Opportunistic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009789","label":"Perianal abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006357","label":"Premature loss of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031864","label":"Bacteremia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Very rare (<4-1%)","criteria":null}]}}