{"orpha":404553,"name":"Deficiency of adenosine deaminase 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adenosine deaminase 2 deficiency","DADA2","Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome","ADA2 deficiency"],"definition":"A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404553/","orphanet_url":"https://www.orpha.net/en/disease/detail/404553","names":{"fr":{"name":"Déficit en adénosine désaminase 2","synonyms":["DADA2","Déficit en ADA2","Syndrome de vascularite-auto-inflammation-immunodéficience-anomalies hématologiques"],"definition":"Maladie auto-inflammatoire rare caractérisée par un large phénotype clinique, associant inflammation systémique, vascularite, accident vasculaire cérébral précoce, déficit immunitaire et insuffisance médullaire, qui se manifeste le plus souvent chez les jeunes enfants, mais peut également se déclarer à l'âge adulte."},"de":{"name":"Adenosin-Desaminase 2-Mangel","synonyms":["ADA2-Mangel","Adenosin-Desaminase 2-Defizienz","DADA2","Vaskulitis-Autoinflammation-Immundefekt-hämatologische Defekte-Syndrom"],"definition":"Eine seltene autoinflammatorische Erkrankung, die durch einen breiten klinischen Phänotyp mit systemischer Entzündung, Vaskulitis, früh einsetzendem Schlaganfall, Immundefizienz und Knochenmarkversagen gekennzeichnet ist. Die Krankheit tritt typischerweise bei Kleinkindern auf, obwohl auch Fälle bei Erwachsenen entdeckt werden."},"es":{"name":"Deficiencia de adenosina desaminasa 2","synonyms":["DADA2","Deficiencia de ADA2","Síndrome de vasculitis-autoinflamación-inmunodeficiencia-defectos hematológicos"],"definition":"Es una enfermedad autoinflamatoria poco frecuente caracterizada por un fenotipo clínico amplio que incluye inflamación sistémica, vasculitis, accidente cerebrovascular de inicio precoz, inmunodeficiencia y fallo medular. La enfermedad se presenta típicamente en niños pequeños, aunque se han descrito casos en adultos."},"it":{"name":"Deficit di adenosina deaminasi 2","synonyms":["Deficit di ADA2","Deficit di adenosina deaminasi 2","Sindrome vasculite-autoinfiammazione-immunodeficienza-difetti ematologici","DADA2","Vasculite da deficit di ADA2"],"definition":"La vasculite da deficit di ADA2 è una malattia sistemica reumatologica rara, di origine genetica, causata dalle mutazioni che inattivano l'adenosina deaminasi-2, con caratteristiche variabili che associano i sintomi dell'autoinfiammazione, della vasculite e di una lieve immunodeficienza. Il quadro clinico è variabile e comprende l'infiammazione sistemica cronica o ricorrente con febbre, la livedo reticolare o racemosa, gli ictus ischemici o emorragici ad esordio precoce, la neuropatia periferica, il dolore addominale, l'epatosplenomegalia, l'ipertensione portale, la poliarterite nodosa cutanea, la citopenia di grado variabile e un deficit di immunoglobuline."},"nl":{"name":"Deficiëntie van adenosinedeaminase 2","synonyms":["ADA2-deficiëntie","Adenosinedeaminase 2-deficiëntie","DADA2","Vasculitis - auto-inflammatie - immuundeficiëntie - hematologische defecten-syndroom"],"definition":"Een zeldzame auto-inflammatoire aandoening, gekenmerkt door een breed klinisch fenotype van systemische inflammatie, vasculitis, vroeg optredende beroerte, immuundeficiëntie en beenmergfalen. De ziekte komt doorgaans voor bij jonge kinderen, maar er worden ook volwassen gevallen ontdekt."},"pt":{"name":"Deficiência de adenosina deaminase 2","synonyms":["DADA2","Vasculite devido a DADA2","Vasculite devido a deficiência de ADA2"]},"pl":{"name":"Zapalenie naczyń z powodu niedoboru ADA2","synonyms":["Niedobór deaminazy adenozyny 2"],"definition":"Zapalenie naczyń z powodu niedoboru ADA2 jest rzadką, genetycznie uwarunkowaną, ogólnoustrojową chorobą reumatologiczną, spowodowaną mutacjami inaktywującymi deaminazę adenozyny 2, która charakteryzuje się kombinacją różnych cech zapalenia autoimmunologicznego, zapalenia naczyń i łagodnego niedoboru odporności. Zmienny obraz kliniczny obejmuje przewlekły lub nawracający ogólnoustrojowy stan zapalny z gorączką, siność siatkowatą (livedo reticularis) lub groniastą (livedo racemosa), udar niedokrwienny lub krwotoczny o wczesnym początku, neuropatię obwodową, bóle brzucha, powiększenie wątroby i śledziony, nadciśnienie wrotne, skórne guzkowe zapalenie tętnic, zmienną cytopenię i niedobór immunoglobulin."},"cs":{"name":"Vaskulitida způsobená deficitem ADA2","synonyms":["Adenosine deaminase 2 deficiency","DADA2","Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome","ADA2 deficiency"]},"uk":{"name":"Дефіцит аденозиндезамінази 2","synonyms":["DADA2","Дефіцит аденозиндезамінази 2","Васкуліт, спричинений дефіцитом ADA2","Васкуліт через DADA2"],"definition":"Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency."},"zh":{"name":"ADA2缺乏导致的血管炎","synonyms":["DADA2相关血管炎"],"definition":"ADA2缺乏引起的罕见的遗传的全身性的风湿性血管炎。该病由腺苷脱氨酶2失活突变导致，合并自身免疫性疾病，血管炎和轻度免疫缺陷的多种临床表现。其他的临床表现包括慢性或反复发作的全身炎症伴发烧，网状青斑，早发性缺血或出血性中风，周围神经病变，腹痛，肝脾肿大，门脉高压，结节性皮肤多动脉炎，多种血细胞减少和免疫球蛋白缺乏。"},"tr":{"name":"ADA2 eksikliğine bağlı vaskülit","synonyms":["DADA2'ye bağlı vaskülit"]}},"xrefs":[{"source":"OMIM","code":"615688","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749403","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156143,"name":"Predominantly medium-vessel vasculitis","classifications":[196,198]},{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]},{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"ADA2","name":"adenosine deaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24552284[PMID]_24552285[PMID]","hgnc":"1839","ensembl":"ENSG00000093072","omim":"607575","loci":["22q11.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28516235[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":48.0,"area":"Worldwide","status":"Validated","source":"28516235[PMID]"}],"phenotypes":null}