{"orpha":423384,"name":"Severe congenital neutropenia due to JAGN1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCN due to JAGN1 deficiency","Severe congenital neutropenia due to jagunal homolog 1 deficiency"],"definition":"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423384/","orphanet_url":"https://www.orpha.net/en/disease/detail/423384","names":{"fr":{"name":"Neutropénie congénitale sévère par déficit en JAGN1","synonyms":["NCS par déficit en JAGN1","Neutropénie congénitale sévère par déficit en protéine jagunal homolog 1"],"definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par des infections bactériennes sévères, récurrentes et précoces, un arrêt de la granulopoïèse au stade promyélocyte/myélocyte et une réduction marquée du nombre absolu de neutrophiles, résultant de mutations du gène <i>JAGN1</i> transmises sur le mode récessif. Une légère dysmorphie faciale (visage triangulaire), une petite taille, un retard de croissance, une hypothyroïdie, un retard de développement, une insuffisance pancréatique et une coarctation de l'aorte, ainsi que des anomalies osseuses et urogénitales, peuvent également être associés."},"de":{"name":"Neutropenie, kongenitale schwere, durch JAGN1-Mangel","synonyms":["SCN durch JAGN1-Defizienz","Schwere kongenitale Neutropenie aufgrund eines Mangels an Jagunal-Homolog-1-Protein"]},"es":{"name":"Neutropenia congénita grave por deficiencia de JAGN1","synonyms":["NCG por deficiencia de JAGN1","Neutropenia congénita grave por deficiencia del homólogo yagunal 1"],"definition":"Es un trastorno por inmunodeficiencia primaria genético y poco frecuente caracterizado por un inicio temprano de la enfermedad, infecciones bacterianas graves y recurrentes, detención de la maduración de la granulopoyesis en el estadio promielocito / mielocito y disminución significativa del recuento de neutrófilos como resultado de mutaciones recesivas en el gen <i>JAGN1</i>. Puede asociar leve dismorfia facial (cara triangular), talla baja, fallo de medro, hipotiroidismo, retraso del desarrollo, insuficiencia pancreática y coartación aórtica, así como anomalías óseas y urogenitales."},"it":{"name":"Neutropenia congenita grave, autosomica recessiva, da deficit di JAGN1","synonyms":["Neutropenia congenita grave da deficit di jagunal homolog 1 deficiency","SCN da deficit di JAGN1"],"definition":"La neutropenia congenita grave autosomica recessiva da deficit di JAGN1 è un'immunodeficienza primitiva rara, di origine genetica, ad esordio precoce, caratterizzata da infezioni batteriche gravi ricorrenti, arresto della maturazione della granulopoiesi alla fase promielocitica/mielocitica e marcata riduzione del numero assoluto dei neutrofili. La malattia è causata dalle mutazioni recessive nel gene JAGN1. Altri segni clinici sono i lievi dismorfismi facciali (viso di forma triangolare), la bassa statura, il ritardo della crescita, l'ipotiroidismo, il ritardo dello sviluppo, l'insufficienza pancreatica, la coartazione dell'aorta e le anomalie scheletriche e urogenitali."},"nl":{"name":"Ernstige congenitale neutropenie door JAGN1-deficiëntie","synonyms":["Ernstige congenitale neutropenie door deficiëntie van 'jagunal homolog 1'","SCN door JAGN1-deficiëntie"],"definition":"Autosomaal recessieve ernstige congenitale neutropenie door JAGN1-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door vroege aanvang van recurrente, ernstige, bacteriële infecties, arrest van de maturatie van de granulopoëse in het promyelocyt/myelocyt-stadium en aanzienlijk verminderd absoluut aantal neutrofielen, als gevolg van recessief overgeërfde mutaties in het gen <i>JAGN1</i>. Milde faciale dysmorfie (i.e. driehoekig gelaat), kleine gestalte, groeiachterstand, hypothyreoïdie, ontwikkelingsachterstand, pancreasinsufficiëntie en coarctatie van de aorta, alsook botanomalieën en urogenitale afwijkingen, kunnen ook geassocieerd zijn."},"pt":{"name":"Neutropenia congénita grave por deficiência JAGN1","synonyms":["Neutropenia congénita grave por homologo 1 jagunal","SCN por deficiência JAGN1"]},"pl":{"name":"Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru JAGN1","synonyms":["Ciężka wrodzona neutropenia spowodowana niedoborem JAGN1"]},"cs":{"name":"Autozomálně recesivní těžká kongenitální neutropenie způsobená deficitem JAGN1","synonyms":["SCN due to JAGN1 deficiency","Severe congenital neutropenia due to jagunal homolog 1 deficiency"]},"uk":{"name":"Тяжка вроджена нейтропенія, зумовлена дефіцитом JAGN1","synonyms":["SCN через дефіцит JAGN1","Тяжка вроджена нейтропенія внаслідок дефіциту ягунального гомолога 1"],"definition":"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated."},"zh":{"name":"JAGN1缺陷所致常染色体隐性遗传性先天性中性粒细胞减少症","definition":"由于JAGN1基因缺乏而导致的常染色体隐性遗传的严重先天性中性粒细胞减少症是一种罕见的遗传性原发性免疫缺陷病，其特征是早发，反复发作，严重的细菌感染，粒细胞成熟过程在早幼粒细胞/粒细胞阶段停滞以及显着减少的绝对中性粒细胞计数（由 JAGN1 基因的隐性变异导致）。也可合并轻度面部畸形（即三角形面部），身材矮小，生长受限，甲状腺功能减退，发育迟缓，胰腺功能不全和主动脉扭转以及骨骼和泌尿生殖系统异常。"},"tr":{"name":"JAGN1 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni"}},"xrefs":[{"source":"OMIM","code":"616022","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"379753289"},{"source":"MONDO","code":"0014456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925036","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":439849,"name":"Autosomal recessive severe congenital neutropenia","classifications":[156,195,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"JAGN1","name":"jagunal vesicle mediated transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25129144[PMID]","hgnc":"26926","ensembl":"ENSG00000171135","omim":"616012","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"25129144[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25129144[PMID]"}],"phenotypes":null}