{"orpha":169464,"name":"Primary CD59 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169464/","orphanet_url":"https://www.orpha.net/en/disease/detail/169464","names":{"fr":{"name":"Déficit primaire en CD59","definition":"Maladie hématologique et neurologique rare d'origine génétique caractérisée par une hémolyse chronique à Coombs négatif associée à une polyneuropathie périphérique à médiation immunitaire, inflammatoire, axonale ou démyélinisante, sensorimotrice, d'apparition précoce et récurrente, ainsi que par des accidents vasculaires cérébraux isolés ou récurrents (affectant la circulation antérieure ou postérieure)."},"de":{"name":"CD59-Mangel, primärer"},"es":{"name":"Deficiencia primaria de CD59","definition":"Es una enfermedad hematológica y neurológica, genética, poco frecuente, caracterizada por hemólisis Coombs-negativa crónica, asociada a polineuropatía sensitivo-motora periférica, axonal o desmielinizante, inflamatoria, mediada por el sistema inmunitario, de inicio temprano y recidivante acompañada de episodios cerebrovasculares aislados o recurrentes (en la circulación anterior o posterior)."},"it":{"name":"Deficit primario di CD59","definition":"Il deficit primitivo di CD59 è una malattia ematologica e neurologica genetica rara, caratterizzata da emolisi cronica Coombs-negativa, associata a polineuropatia sensitivo-motoria periferica ad esordio precoce recidivante immuno-mediata, assonale o demielinizzante, e ad eventi cerebrovascolari isolati o ricorrenti (nel circolo anteriore o posteriore)."},"nl":{"name":"Primaire CD59-deficiëntie","definition":"Primaire CD59-deficiëntie is een zeldzame, genetische, hematologische en neurologische ziekte die gekarakteriseerd wordt door chronische, Coombs-negatieve hemolyse, geassocieerd met vroeg aanvangende, recidiverende, immuungemedieerde, inflammatoire, axonale of demyeliniserende, sensorische-motorische, perifere polyneuropathie en geïsoleerde of terugkerende cerebrovasculaire accidenten (in het voorste of achterste deel van de cerebrale circulatie)."},"pt":{"name":"Deficiência de CD59 primária"},"pl":{"name":"Pierwotny niedobór CD59","definition":"*Pierwotny niedobór CD59 jest rzadką, genetycznie uwarunkowaną chorobą hematologiczną i neurologiczną, która charakteryzuje się przewlekłą hemolizą z ujemnym wynikiem Coombsa, związaną z nawracającą, zapalną, aksonalną lub demielinizacyjną obwodową polineuropatią czuciowo-ruchową o wczesnym początku i podłożu immunologicznym oraz izolowanymi lub nawracającymi zdarzeniami ze strony krążenia mózgowego (w krążeniu przednim lub tylnym)."},"cs":{"name":"Primární deficit CD59"},"uk":{"name":"Первинний дефіцит CD59","definition":"A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation)."},"zh":{"name":"原发性CD59因子缺乏","definition":"原发性CD59缺乏症是一种罕见的遗传性血液系统和神经系统疾病，其主要临床表现为Coombs试验阴性的慢性溶血反应，与早发的、复发的、免疫介导的、炎性、轴性或脱髓鞘性、感觉运动性、多发性周围神经病变和孤立性或复发性脑血管事件（前循环或后循环）相关。"},"tr":{"name":"Primer CD59 eksikliği"}},"xrefs":[{"source":"OMIM","code":"612300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"709829617"},{"source":"MONDO","code":"0012858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]},{"orpha":459348,"name":"Immunodeficiency due to a complement regulatory deficiency","classifications":[156,195]},{"orpha":98364,"name":"Rare constitutional hemolytic anemia due to a red cell membrane anomaly","classifications":[156,194]}],"children":[],"genes":[{"symbol":"CD59","name":"CD59 molecule (CD59 blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23149847[PMID]","hgnc":"1689","ensembl":"ENSG00000085063","omim":"107271","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23149847[PMID]_16631367[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}