{"orpha":101987,"name":"Congenital neutropenia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Constitutional neutropenia"],"definition":"A rare group of genetic primary immunodeficiencies characterized by impaired neutrophil maturation or function. Neutropenia ranges from mild to severe and may be cyclic, isolated, or syndromic. It is defined by a triad of severe infections, diverse comorbidities, and/or increased leukemic risk, with severity and frequency determined by the underlying gene defect.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101987/","orphanet_url":"https://www.orpha.net/en/disease/detail/101987","names":{"fr":{"name":"Neutropénie congénitale","synonyms":["Neutropénie constitutionnelle"],"definition":"Groupe rare de déficits immunitaires primaires d'origine génétique caractérisé par une altération de la maturation ou une altération fonctionnelle des neutrophiles. La neutropénie va de légère à sévère et peut être cyclique, isolée ou syndromique. Elle se définit par une triade associant infections sévères, comorbidités diverses et/ou risque leucémique accru, dont la gravité et la fréquence sont déterminées par l'anomalie génétique sous-jacente."},"de":{"name":"Neutropenie, kongenitale","synonyms":["Konstitutionelle Neutropenie"],"definition":"Eine seltene Gruppe genetisch bedingter primärer Immundefekte, die durch eine beeinträchtigte Reifung oder Funktion der Neutrophilen gekennzeichnet sind. Die Neutropenie reicht von leicht bis schwer und kann zyklisch, isoliert oder syndromal auftreten. Sie ist durch eine Trias aus schweren Infektionen, verschiedenen Begleiterkrankungen und/oder erhöhtem Leukämierisiko definiert, wobei Schweregrad und Häufigkeit durch den zugrunde liegenden Gendefekt bestimmt werden."},"es":{"name":"Neutropenia congénita","synonyms":["Neutropenia constitucional"],"definition":"Es un grupo poco frecuente de inmunodeficiencias genéticas primarias caracterizadas por una alteración de la maduración o de la función de los neutrófilos. La neutropenia varía de leve a grave y puede ser cíclica, aislada o sindrómica. Se define por una tríada de infecciones graves, diversas comorbilidades y/o un mayor riesgo de leucemia, cuya gravedad y frecuencia están determinadas por el defecto genético subyacente."},"it":{"name":"Neutropenia congenita","synonyms":["Neutropenia costituzionale"]},"nl":{"name":"Congenitale neutropenie","synonyms":["Constitutionele neutropenie"],"definition":"Een zeldzame groep van genetische primaire immuundeficiënties, gekenmerkt door verstoorde rijping of functie van neutrofielen. Neutropenie varieert van mild tot ernstig en kan cyclisch, geïsoleerd of syndromaal zijn. De aandoeningen worden gedefinieerd door een triade van ernstige infecties, diverse comorbiditeiten, en/of verhoogd risico op leukemie, waarbij ernst en frequentie bepaald worden door het onderliggende gendefect."},"pt":{"name":"Neutropenia congénita","synonyms":["Neutropenia constitucional"]},"pl":{"name":"Wrodzona neutropenia","synonyms":["Constitutional neutropenia"]},"cs":{"name":"Konstituční neutropenie","synonyms":["Constitutional neutropenia"]},"uk":{"name":"Вроджена нейтропенія","synonyms":["Конституційна нейтропенія"]},"zh":{"name":"体质性中性粒细胞减少症"},"tr":{"name":"Yapısal nötropeni"}},"xrefs":[{"source":"ICD-10","code":"D70","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"87096615"},{"source":"MONDO","code":"0015134","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3805116","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19809","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101985,"name":"Quantitative and/or qualitative congenital phagocyte defect","classifications":[156,195]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[{"orpha":2686,"name":"Cyclic neutropenia","type":"Disease"},{"orpha":42738,"name":"Severe congenital neutropenia","type":"Clinical group"},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}