{"orpha":331176,"name":"Severe congenital neutropenia due to G6PC3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCN due to G6PC3 deficiency","SCN4","Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency","Severe congenital neutropenia type 4","Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"],"definition":"Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the <i>G6PC3</i> gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331176/","orphanet_url":"https://www.orpha.net/en/disease/detail/331176","names":{"fr":{"name":"Neutropénie congénitale sévère par déficit en G6PC3","synonyms":["NCS par déficit en G6PC3","NCS4","Neutropénie congénitale sévère par déficit en protéine glucose-6-phosphatase catalytic subunit 3","Neutropénie congénitale sévère type 4","Syndrome de neutropénie congénitale sévère-hypertension artérielle pulmonaire-ectasie veineuse superficielle"],"definition":"Déficit immunitaire primaire rare d'origine génétique, caractérisé par une susceptibilité accrue aux infections bactériennes récurrentes et potentiellement létales, en association avec une neutropénie typiquement sévère identifiée dans le sang périphérique et la moelle osseuse et une veine superficielle ectasique proéminente, résultant des mutations du gène <i>G6PC3</i> transmises sur le mode récessif. Des malformations cardiaques (communication interauriculaire, persistance du canal artériel, anomalies valvulaires), des anomalies urogénitales (y compris une cryptorchidie), des retards de croissance et de développement, une dysmorphie faciale (bosses frontales proéminentes, nez retroussé, hypoplasie malaire) et une thrombocytopénie intermittente sont fréquemment associés."},"de":{"name":"Neutropenie, kongenitale schwere, durch G6PC3-Mangel","synonyms":["Neutropenie, kongenitale schwere, 4","SCN durch G6PC3-Mangel","SCN4","Schwere kongenitale Neutropenie aufgrund eines Mangels der katalytischen Glukose-6-Phosphatase-Untereinheit 3","Schwere kongenitale Neutropenie-pulmonale Hypertension-uperfizielle venöse Angiektasie-Syndrom"]},"es":{"name":"Neutropenia congénita grave por deficiencia de G6PC3","synonyms":["NCG por deficiencia de G6PC3","Neutropenia congénita grave por deficiencia de la subunidad catalítica 3 de la glucosa-6-fosfatasa","Neutropenia congénita grave tipo 4","SCN4","Síndrome de neutropenia congénita grave-hipertensión pulmonar-angiectasia venosa superficial"],"definition":"Es un trastorno por inmunodeficiencia primaria, genético y poco frecuente, caracterizado por una mayor susceptibilidad a infecciones bacterianas recurrentes y potencialmente mortales, asociada a neutropenia generalmente grave en sangre periférica y médula ósea y un patrón venoso ectásico superficial prominente. Este trastorno está causado por mutaciones recesivas en el gen <i>G6PC3</i>. Con frecuencia se asocia a malformaciones cardíacas (p. ej., comunicación interauricular, ductus arterioso persistente, defecto valvular), anomalías urogenitales (incluida la criptorquidia), retraso del crecimiento y del desarrollo, dismorfia facial (p. ej., frente prominente, nariz respingona, hipoplasia malar) y trombocitopenia intermitente."},"it":{"name":"Neutropenia congenita grave da deficit di G6PC3","synonyms":["Neutropenia congenita grave - ipertensione polmonare - angectasia venosa superficiale","Neutropenia congenita grave 4","Neutropenia congenita grave da deficit della subunità catalitica 3 della glucosio-6-fosfatasi","SCN da deficit di G6PC3","SCN4","Sindrome neutropenia congenita grave-ipertensione polmonare-angectasia venosa superficiale"],"definition":"La neutropenia congenita grave autosomica recessiva da deficit di G6PC3 è un'immunodeficienza primitiva rara di origine genetica, caratterizzata da un aumento della suscettibilità alle infezioni batteriche ricorrenti e potenzialmente letali, associata a neutropenia grave nel sangue periferico e nel midollo osseo e ad una marcata ectasia delle vene superficiali, causate da mutazioni recessive nel gene G6PC3. Spesso i pazienti presentano cardiopatie (difetti del setto interatriale, pervietà del dotto arterioso, difetti valvolari), anomalie urogenitali (criptorchidismo), ritardo della crescita e dello sviluppo, dismorfismi facciali (fronte prominente, naso con punta rivolta verso l'alto, ipoplasia mascellare) e trombocitopenia intermittente."},"nl":{"name":"Ernstige congenitale neutropenie door G6PC3-deficiëntie","synonyms":["Ernstige congenitale neutropenie - pulmonale hypertensie - oppervlakkige veneuze angiëctasie-syndroom","Ernstige congenitale neutropenie 4","Ernstige congenitale neutropenie door deficiëntie van katalytische subeenheid 3 van glucose-6-fosfatase","SCN door G6PC3-deficiëntie","SCN4"],"definition":"Autosomaal recessieve ernstige congenitale neutropenie door G6PC3-deficiëntie is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door verhoogde vatbaarheid voor recurrente, levensbedreigende bacteriële infecties, geassocieerd met doorgaans ernstige neutropenie in perifeer bloed en beenmerg en uitgesproken ectatische, oppervlakkige aders, en die het gevolg is van recessief overgeërfde mutaties in het gen <i>G6PC3</i>. Hartmalformaties (e.g. atriumseptumdefecten, persisterende ductus arteriosus, hartklepdefecten), urogenitale anomalieën (e.g. cryptorchisme), groei- en ontwikkelingsachterstand, faciale dysmorfie (e.g. boller voorhoofd, wipneus, malaire hypoplasie), en intermitterende trombocytopenie zijn frequent geassocieerd."},"pt":{"name":"Neutropenia congénita grave por deficiência G6PC3","synonyms":["Neutropenia congénita grave por deficiência da subunidade 3 catalitica da glucose-6-fosfatase","Neutropenia congénita grave tipo 4","SCN por deficiência G6PC3","SCN4","Síndrome de neutropenia congénita grave-hipertensão pulmonar-angiectasias venosas superficiais"]},"pl":{"name":"Ciężka wrodzona neutropenia spowodowana niedoborem G6PC3","synonyms":["Ciężka wrodzona neutropenia - nadciśnienie płucne - powierzchowna angiektazja żylna","Ciężka wrodzona neutropenia 4","SCN4"]},"cs":{"name":"Autozomálně recesivní těžká vrozená neutropenie způsobená G6PC3 deficitem","synonyms":["SCN4","Těžká vrozená neutropenie, typ 4","Syndrom zahrnující těžkou vrozenou neutropenii, plicní hypertenzi a superficiální venózní angiektázii"]},"uk":{"name":"Тяжка вроджена нейтропенія, зумовлена дефіцитом G6PC3","synonyms":["SCN через дефіцит G6PC3","SCN4","Тяжка вроджена нейтропенія внаслідок дефіциту каталітичної субодиниці 3 глюкозо-6-фосфатази","Тяжка вроджена нейтропенія типу 4","Тяжка вроджена нейтропенія - легенева гіпертензія - синдром поверхневого венозного ангіоектазу"],"definition":"Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the <i>G6PC3</i> gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated."},"zh":{"name":"G6PC3基因缺乏所致常染色体隐性遗传性严重先天性中性粒细胞减少症","synonyms":["先天性重型中性粒细胞减少4型"],"definition":"G6PC3基因缺乏所致常染色体隐性重型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疾病，其特征是对复发性、威胁生命的细菌感染的易感性增加，并伴有典型的外周血和骨髓中性粒细胞减少以及明显的浅表静脉扩张表现，由G6PC3基因的隐性遗传突变引起。常伴有心脏畸形（如房间隔缺损、动脉导管未闭、瓣膜缺损）、泌尿生殖系统异常（包括隐睾症）、生长发育迟缓、面部畸形（如前额隆起、鼻上翘、颧骨发育不全）和间歇性血小板减少症。"},"tr":{"name":"G6PC3 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni","synonyms":["Ağır doğumsal nötropeni-pulmoner hipertansiyon-yüzeysel venöz anjiyektazi sendromu","SCN4","Ağır doğumsal nötropeni tip 4"]}},"xrefs":[{"source":"OMIM","code":"612541","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":"780511169"},{"source":"MONDO","code":"0012930","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":178503,"name":"Dursun syndrome","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":439849,"name":"Autosomal recessive severe congenital neutropenia","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"G6PC3","name":"glucose-6-phosphatase catalytic subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23018568[PMID]_19118303[PMID]_20799326[PMID]","hgnc":"24861","ensembl":"ENSG00000141349","omim":"611045","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":57.0,"area":"Worldwide","status":"Validated","source":"23758768[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}