{"orpha":369852,"name":"Congenital neutropenia-myelofibrosis-nephromegaly syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VPS45 deficiency","Vacuolar sorting protein 45 deficiency","Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369852/","orphanet_url":"https://www.orpha.net/en/disease/detail/369852","names":{"fr":{"name":"Syndrome de neutropenie congénitale-myélofibrose-néphromégalie","synonyms":["Déficit en VPS45","Déficit en Vacuolar sorting protein 45","Syndrome de neutropenie congénitale-fibrose de la moelle osseuse-néphromégalie"],"definition":"Déficit immunitaire primaire rare d'origine génétique caractérisé par une neutropénie congénitale sévère, une fibrose de la moelle osseuse et un dysfonctionnement des neutrophiles réfractaire au facteur de stimulation des colonies de granulocytes, se manifestant par des infections mettant en jeu le pronostic vital et/ou par des abcès profonds, une hépatosplénomégalie, une thrombocytopénie, une hypergammaglobulinémie, une anémie avec réticulocytose et par une néphromégalie. Une ostéosclérose et des anomalies neurologiques (par exemple, retard de développement, cécité corticale, perte auditive, corps calleux fin ou dysrythmie repérable à l'EEG) figurent parmi les autres caractéristiques rapportées."},"de":{"name":"Kongenitale Neutropenie-Myelofibrose-Nephromegalie-Syndrom","synonyms":["Kongenitale Neutropenie-Knochenmarkfibrose-Nephromegalie-Syndrom","Vakuolares Sortierprotein 45-Defizienz"]},"es":{"name":"Síndrome de neutropenia congénita-mielofibrosis-nefromegalia","synonyms":["Deficiencia de VPS45","Deficiencia de proteína de clasificación vacuolar 45","Síndrome de neutropenia congénita-fibrosis de la médula ósea-nefromegalia"],"definition":"El síndrome de neutropenia congénita - mielofibrosis - nefromegalia es una inmunodeficiencia primaria, genética y poco frecuente, caracterizada por neutropenia congénita grave, fibrosis medular y disfunción de los neutrófilos refractaria al factor estimulante de colonias de granulocitos. Se manifiesta con infecciones que amenazan la vida y/o abscesos profundos, hepato- / esplenomegalia, trombocitopenia, hipergammaglobulinemia, anemia con reticulocitosis y nefromegalia. Otras características descritas incluyen osteosclerosis y anomalías neurológicas (p. ej., retraso del desarrollo, ceguera cortical, pérdida auditiva, adelgazamiento del cuerpo calloso o disritmia en el EEG)."},"it":{"name":"Sindrome neutropenia congenita-mielofibrosi-nefromegalia","synonyms":["Deficit di VPS45","Deficit di vacuolar sorting protein 45","Sindrome neutropenia congenita-fibrosi del midollo osseo-nefromegalia","Sindrome neutropenia congenita-mielofibrosi-nefromegalia"],"definition":"La sindrome che associa la neutropenia congenita, la mielofibrosi e la nefromegalia è un'immunodeficienza primitiva genetica rara, caratterizzata da neutropenia congenita grave, fibrosi del midollo osseo e disfunzione dei neutrofili, refrattaria al fattore stimolante le colonie granulocitarie. Esordisce con infezioni potenzialmente letali e/o ascessi profondi, epato-/splenomegalia, trombocitopenia, ipergammaglobulinemia, anemia con reticolocitosi e nefromegalia. Altri possibili segni clinici sono l'osteosclerosi e le anomalie neurologiche (ritardo dello sviluppo, cecità corticale, sordità, assottigliamento del corpo calloso o disaritmie all'EEG)."},"nl":{"name":"Congenitale neutropenie - myelofibrose - nefromegalie-syndroom","synonyms":["Congenitale neutropenie - beenmergfibrose - nefromegalie-syndroom","Deficiëntie van 'Vacuolar sorting' proteïne 45","VPS45-deficiëntie"],"definition":"Congenitale neutropenie - myelofibrose - nefromegalie-syndroom is een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door ernstige congenitale neutropenie, beenmergfibrose en disfunctie van neutrofielen die is refractair is voor granulocyt-koloniestimulerende factor, en zich manifesteert met levensbedreigende infecties en/of diepliggende abcessen, hepato-/splenomegalie, trombocytopenie, hypergammaglobulinemie, anemie met reticulocytose en nefromegalie. Andere kenmerken die werden gerapporteerd, zijn onder meer osteosclerose en neurologische afwijkingen (e.g. ontwikkelingsachterstand, corticale blindheid, gehoorverlies, dun corpus callosum of dysritmie op EEG)."},"pt":{"name":"Síndrome de neutropenia congénita-mielofibrose-nefromegalia","synonyms":["Deficiência VPS45","Deficiência da proteina 45 de seleção vacuolar","Síndrome de neutropenia congénita-bibrose medula óssea-nefromegalia"]},"pl":{"name":"Zespół wrodzonej neutropenii, zwłóknienia szpiku i nefromegalii","synonyms":["Zespół nawracajace infekcje-zwłóknienie szpiku-nefromegalia","Zespół neutropenia wrodzona-mielofibroza-nefromegalia","Zespół neutropenia wrodzona-zwłóknienie szpiku-nefromegalia"],"definition":"*Zespół wrodzonej neutropenii, zwłóknienia szpiku i nefromegalii jest rzadkim, genetycznie uwarunkowanym, pierwotnym niedoborem odporności, który charakteryzuje się ciężką wrodzoną neutropenią, zwłóknieniem szpiku kostnego i dysfunkcją linii komórkowej neutrofili, która jest oporna na czynnik stymulujący tworzenie kolonii granulocytów, co objawia się zagrażającymi życiu infekcjami i/lub powstawaniem głębokich ropni, powiększeniem wątroby/śledziony, trombocytopenią, hipergammaglobulinemią, niedokrwistością z retikulocytozą i nefromegalią. Inne opisywane objawy to osteoskleroza i nieprawidłowości neurologiczne (np. opóźnienie rozwoju, ślepota korowa, niedosłuch, ścieńczenie ciała modzelowatego lub dysrytmia w zapisie EEG)."},"cs":{"name":"Syndrom zahrnující vrozenou neutropenii, myelofibrózu a nefromegalii","synonyms":["Deficit VPS45","Syndrom zahrnující vrozenou neutropenii, fibrózu kostní dřeně a nefromegalii"]},"uk":{"name":"Синдром вродженої нейтропенії-мієлофіброзу-нефромегалії","synonyms":["Вродженаий синдром нейтропенії - фіброзу кісткового мозку - нефромегалії","Дефіцит білка 45 вакуолярного сортування","Дефіцит VPS45"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG)."},"zh":{"name":"先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征","synonyms":["先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征"],"definition":"先天性中性粒细胞减少-骨髓纤维化-肾巨大综合征是一种罕见的遗传性原发性免疫缺陷疾病，其特征是严重的先天性中性粒细胞减少、骨髓纤维化和对粒细胞集落刺激因子无反应的中性粒细胞功能障碍。本病表现为危及生命的感染和/或深部脓肿、肝/脾肿大、血小板减少、高γ球蛋白血症、贫血合并网织红细胞增多症和肾肥大。其他已报道的疾病特征包括骨硬化和神经异常(例如发育迟缓、皮质盲、听力丧失、胼胝体变薄或脑电图节律紊乱)。"},"tr":{"name":"Doğumsal nötropeni-miyelofibroz-nefromegali sendromu","synonyms":["VPS45 eksikliği","Doğumsal nötropeni-kemik iliği fibrozis-nefromegali sendromu"]}},"xrefs":[{"source":"OMIM","code":"615285","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755251","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"VPS45","name":"vacuolar protein sorting 45 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23738510[PMID]","hgnc":"14579","ensembl":"ENSG00000136631","omim":"610035","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"26358756[PMID]_28453180[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26358756[PMID]_28453180[PMID]"}],"phenotypes":null}