{"orpha":33355,"name":"Reticular dysgenesis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AK2 deficiency","De Vaal disease","SCID with sensorineural deafness","SCID with sensorineural hearing loss","Severe combined immunodeficiency with sensorineural deafness","Severe combined immunodeficiency with sensorineural hearing loss"],"definition":"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33355/","orphanet_url":"https://www.orpha.net/en/disease/detail/33355","names":{"fr":{"name":"Dysgénésie réticulaire","synonyms":["DISC avec surdité","Déficit en AK2","Déficit immunitaire combiné sévère avec surdité","Immunodéficience combinée sévère avec surdité","Maladie de De Vaal","SCID avec surdité"],"definition":"La dysgénésie réticulaire est la forme la plus grave de déficit immunitaire combiné sévère (SCID) et est caractérisée par une surdité de perception bilatérale et l'absence de fonctions immunitaires innées et adaptives entraînant une septicémie fatale quelques jours après la naissance si elle n'est pas traitée non traitée."},"de":{"name":"Retikuläre Dysgenesie","synonyms":["AK2-Mangel","Adenylatkinase 2-Defizienz","De Vaal-Krankheit","SCID mit sensorineuralem Hörverlust","Schwerer kombinierter Immundefekt mit sensorineuraler Schwerhörigkeit"],"definition":"Die Retikuläre Dysgenesie, die schwerste Form des Schweren kombinierten Immundefektes (SCID; s. dort), ist gekennzeichnet durch beidseitige Schallempfindungsschwerhörigkeit und fehlende angeborene und erworbene Immunfunktionen. Die Folge ist eine Septikämie, die unbehandelt innerhalb weniger Tage nach der Geburt zum Tod führt."},"es":{"name":"Disgenesia reticular","synonyms":["Deficiencia de AK2","Enfermedad de De Vaal","IDCG con hipoacusia neurosensorial","IDCG con sordera neurosensorial","Inmunodeficiencia combinada grave con hipoacusia neurosensorial","Inmunodeficiencia combinada grave con sordera neurosensorial","SCID con hipoacusia neurosensorial","SCID con sordera neurosensorial"],"definition":"La disgenesia reticular es la forma más grave de inmunodeficiencia combinada grave (IDCG); ver término) y se caracteriza por sordera neurosensorial bilateral y la ausencia de respuesta inmune innata y adaptativa, que si no se trata lleva a la muerte al paciente habitualmente por una sepsis fulminante pocos días después del nacimiento."},"it":{"name":"Disgenesia reticolare","synonyms":["SCID con sordità neurosensoriale","SCID con perdita dell'udito neurosensoriale","Deficit di AK2","Immunodeficienza combinata grave con sordità neurosensoriale","Immunodeficienza combinata grave con perdita dell'udito neurosensoriale","Malattia di De Vaal"],"definition":"La disgenesia reticolare è la forma più grave di immunodeficienza combinata grave (SCID; si veda questo termine) ed è caratterizzata da sordità neurosensoriale bilaterale e dall'assenza delle risposte immunitarie innate e adattive; in assenza di terapia, la malattia esita in una setticemia letale pochi giorni dopo la nascita."},"nl":{"name":"Reticulaire dysgenesie","synonyms":["AK2-deficiëntie","Ernstige gecombineerde immuundeficiëntie met sensorineuraal gehoorverlies","Ernstige gecombineerde immuundeficiëntie met sensorineurale doofheid","SCID met sensorineuraal gehoorverlies","SCID met sensorineurale doofheid","Ziekte van De Vaal"],"definition":"Reticulaire dysgenesie is de meest ernstige vorm van ernstige gecombineerde immuundeficiëntie (SCID; zie deze term) en wordt gekenmerkt door bilaterale perceptieve doofheid en een gebrek aan aangeboren en verworven immuniteitsfuncties, wat binnen enkele dagen na de geboorte leidt tot fatale bloedvergiftiging als er niet snel wordt behandeld."},"pt":{"name":"Disgenesia reticular","synonyms":["Aleucocitose congénita","Doença de De Vaal","Hipoplasia hematopoiética generalizada","Imunodeficiência combinada grave com leucopenia"]},"pl":{"name":"Dysgenezja siateczki","synonyms":["Choroba De Vaala","Ciężki złożony Niedobór odporności z leukopenią","Niedobór AK2","SCID z leukopenią","Uogólniona hipoplazja hematopoetyczna","Wrodzona aleukocytoza"]},"cs":{"name":"Retikulární dysgeneze","synonyms":["Deficit AK2","Vrozená aleukocytóza","De Vaalova choroba","Generalizovaná hematopoetická hypoplázie","SCID s leukopenií","Těžká kombinovaná imunodeficience s leukopenií"]},"uk":{"name":"Дисгенезія сітківки","synonyms":["Дефіцит АК2","Вроджений алейкоцитоз","Хвороба де Ваала","Генералізована гіпоплазія кровотворних органів","ТКІД з лейкопенією","Тяжкий комбінований імунодефіцит з лейкопенією"],"definition":"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated."},"zh":{"name":"网状组织发育不全","synonyms":["严重联合免疫缺陷病伴白细胞减少"]},"tr":{"name":"Retiküler disgenezi","synonyms":["AK2 eksikliği","De Vaal hastalığı","Lökopeni ile seyreden SCID","Doğumsal alökositoz","Jeneralize hematopoetik hipoplazi","Lökopeni ile seyreden ağır kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"267500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"194355955"},{"source":"MONDO","code":"0009973","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272167","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8625","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720294,"name":"T-B-NK- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"AK2","name":"adenylate kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19043416[PMID]","hgnc":"362","ensembl":"ENSG00000004455","omim":"103020","loci":["1p35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}