{"orpha":263440,"name":"Neuroacanthocytosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263440/","orphanet_url":"https://www.orpha.net/en/disease/detail/263440","names":{"fr":{"name":"Neuroacanthocytose","definition":"Les syndromes neuroacanthocytaires (NA) constituent un groupe de maladies génétiques caractérisées par l'association d'une acanthocytose des globules rouges (érythrocytes déformés présentant des protubérances en forme de pointes) et d'une dégénérescence progressive des noyaux gris centraux."},"de":{"name":"Neuroakanthozytose","definition":"Die Neuroakanthozytose (NA)-Syndrome sind eine Gruppe genetischer Krankheiten, die durch die Assoziation von Akanthozytose der roten Blutkörperchen (zapfenförmige Ausbuchtungen der Erythrozyten-Membran) mit progressiver Degeneration der Basalganglien charakterisiert sind."},"es":{"name":"Neuroacantocitosis","definition":"Los síndromes de neuroacantocitosis (NA) son un grupo de enfermedades genéticas que se caracterizan por la asociación de acantocitosis de glóbulos rojos (eritrocitos deformados como espinas) y una degeneración progresiva de los ganglios basales."},"it":{"name":"Neuroacantocitosi","definition":"Le sindromi da neuroancantocitosi (NA) sono un gruppo di malattie genetiche caratterizzate dall'associazione tra acantocitosi eritrocitaria (eritrociti deformati con protrusioni a \"punta\") e degenerazione progressiva degli gangli della base."},"nl":{"name":"Neuroacanthocytose","definition":"Neuroacanthocytosesyndromen (NA-syndromen) zijn een groep genetische aandoeningen gekenmerkt door acanthocytose van de rode bloedcellen (misvormde erytrocyten met puntige uitsteeksels) en progressieve degeneratie van de basale ganglia."},"pt":{"name":"Neuroacantocitose"},"pl":{"name":"Neuroakantocytoza"},"cs":{"name":"Neuroakantocytóza"},"uk":{"name":"Нейроакантоцитоз","definition":"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."},"zh":{"name":"神经棘红细胞增多症","definition":"神经棘细胞增多症(NA)是一组遗传性疾病，其特征与红细胞棘细胞增多症(变形的红细胞有棘状突起)和基底节进行性变性有关。"},"tr":{"name":"Nöroakantositoz"}},"xrefs":[{"source":"MONDO","code":"0016987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]},{"orpha":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[{"orpha":2388,"name":"Choreoacanthocytosis","type":"Disease"},{"orpha":98934,"name":"Huntington disease-like 2","type":"Disease"},{"orpha":59306,"name":"McLeod neuroacanthocytosis syndrome","type":"Disease"},{"orpha":157850,"name":"Pantothenate kinase-associated neurodegeneration","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"22027213[PMID]"}],"phenotypes":null}