{"orpha":238269,"name":"AApoAII amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Apolipoprotein A-II amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-II variant","Familial renal amyloidosis due to apolipoprotein A-II variant","Hereditary amyloid nephropathy due to apolipoprotein A-II variant","Hereditary renal amyloidosis due to apolipoprotein A-II variant"],"definition":"A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238269/","orphanet_url":"https://www.orpha.net/en/disease/detail/238269","names":{"fr":{"name":"Amylose AApoAII","synonyms":["Amylose rénale familiale due à un variant de l'apolipoprotéine A-II","Amylose rénale héréditaire due à un variant de l'apolipoprotéine A-II","Amylose à apolipoprotéine A-II","Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine A-II","Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine A-II"],"definition":"Amylose héréditaire rare avec atteinte rénale primaire, caractérisée par l'apparition variable d'une insuffisance rénale accompagnée d'un oedème, d'une hypertension, d'une protéinurie et d'une azotémie, conduisant in fine à une insuffisance rénale terminale. Une cardiomyopathie amyloïde et la présence, à l'examen histopathologique, de dépôts amyloïdes dans d'autres organes, tels que la rate, le foie, les glandes surrénales et le pancréas, ont également été décrites."},"de":{"name":"AApoAII-Amyloidose","synonyms":["Apolipoprotein AII-Amyloidose","Hereditäre renale Amyloidose durch Apolipoprotein AII-Variante","Amyloid-Nephropathie, familiäre, durch Apolipoprotein AII-Variante","Amyloidose, familiäre renale, mit Apolipoprotein AII-Variante"],"definition":"Eine seltene hereditäre Form der Amyloidose mit primärer Nierenbeteiligung, die durch einen variablen Beginn der Niereninsuffizienz mit Ödemen, Bluthochdruck, Proteinurie und Azotämie gekennzeichnet ist und schließlich zu einer Nierenerkrankung im Endstadium führt. Amyloid-Kardiomyopathie und histopathologische Nachweise von Amyloidablagerungen in anderen Organen wie Milz, Leber, Nebennieren und Bauchspeicheldrüse sind ebenfalls beschrieben worden."},"es":{"name":"Amiloidosis AApoAII","synonyms":["Amiloidosis apolipoproteína A-II","Amiloidosis por apolipoproteína A-II","Amiloidosis renal familiar por una variante de la apolipoproteína A-ll","Amiloidosis renal hereditaria por una variante de la apolipoproteína A-ll","Nefropatía amiloide familiar por una variante de la apolipoproteína A-ll","Nefropatía amiloide hereditaria por una variante de la apolipoproteína A-ll"],"definition":"Es una amiloidosis hereditaria poco frecuente con afectación renal primaria caracterizada por un inicio variable de insuficiencia renal con edema, hipertensión, proteinuria y azotemia, que evoluciona finalmente a enfermedad renal terminal. También se ha descrito miocardiopatía amiloide y evidencia histopatológica de depósitos de amiloide en otros órganos, como el bazo, el hígado, las glándulas suprarrenales y el páncreas, entre otros."},"it":{"name":"Amiloidosi AApoAII","synonyms":["Amiloidosi da apolipoproteina A-II","Amiloidosi renale ereditaria da variante dell'apolipoproteina A-II","Amiloidosi renale familiare da variante dell'apolipoproteina A-II","Nefropatia amiloide ereditaria da variante dell'apolipoproteina A-II","Nefropatia amiloide familiare da variante dell'apolipoproteina A-II"],"definition":"Si tratta di un'amiloidosi ereditaria rara con interessamento renale primario, caratterizzata da insufficienza renale ad esordio variabile associata a edema, ipertensione, proteinuria e azotemia, che esita nella malattia renale terminale. I pazienti possono presentare anche cardiomiopatia amiloide, mentre l'esame istopatologico può evidenziare depositi di amiloide in altri organi (ad es. milza, fegato, ghiandole surrenali e pancreas)."},"nl":{"name":"AApoAII-amyloïdose","synonyms":["Apolipoproteïne A-II-amyloïdose","Erfelijke amyloïde nefropathie als gevolg van apolipoproteïne A-II-variant","Erfelijke renale amyloïdose als gevolg van apolipoproteïne A-II-variant","Familiale amyloïde nefropathie als gevolg van apolipoproteïne A-II-variant","Familiale renale amyloïdose als gevolg van apolipoproteïne A-II-variant"],"definition":"Een zeldzame hereditaire amyloïdose met primaire betrokkenheid van nier, gekarakteriseerd door variabele aanvang van nierinsufficiëntie met oedeem, hypertensie, proteïnurie en azotemie, met uiteindelijk terminaal nierfalen tot gevolg. Amyloïdcardiomyopathie en histopathologisch bewijs van depositie van amyloïd in andere organen, zoals onder meer milt, lever, bijnier en pancreas, werden ook reeds beschreven."},"pt":{"name":"Amiloidose renal familiar devido a apolipoproteínas, todas as variantes"},"pl":{"name":"Amyloidoza AApoAII","synonyms":["Amyloidoza apolipoproteinowa A-II","Dziedziczna amyloidoza nerek z powodu wariantu apolipoproteiny A-ll","Dziedziczna nefropatia amyloidowa z powodu wariantu polipoproteiny A-ll","Rodzinna amyloidoza nerek z powodu wariantu apolipoproteiny A-ll","Rodzinna nefropatia amyloidowa z powodu wariantu apolipoproteiny A-ll"]},"cs":{"name":"Apo AII amyloidóza","synonyms":["Amyloido´za z apolipoproteinu AII","Amyloidóza z apolipoproteinu AII","Familiární amyloidní nefropatie způsobená variantou apolipoproteinu A-II","Familiární renální amyloidóza způsobená variantou apolipoproteinu A-II","Hereditární amyloidní nefropatie způsobená variantou apolipoproteinu A-II","Hereditární renální amyloidóza způsobená variantou apolipoproteinu A-II"]},"uk":{"name":"Амілоїдоз AApoAII","synonyms":["Амілоїдоз аполіпопротеїну A-II","Сімейна амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну А-ІІ","Сімейний амілоїдоз нирок, зумовлений варіантом аполіпопротеїну А-ІІ","Спадкова амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну А-ІІ","Спадковий амілоїдоз нирок, зумовлений варіантом аполіпопротеїну А-ІІ"],"definition":"A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described."},"zh":{"name":"AApoAII淀粉样变性","synonyms":["载脂蛋白AII淀粉样变性所致遗传性肾淀粉样变性"]},"tr":{"name":"AApoAII amiloidoz","synonyms":["Apolipoprotein A-II amiloidoz","Apolipoprotein A-II varyantına bağlı ailesel renal amiloidoz","Apolipoprotein A-II varyantına bağlı ailesel amiloid nefropati","Apolipoprotein A-II varyantına bağlı kalıtsal renal amiloidoz","Apolipoprotein A-II varyantına bağlı kalıtsal amiloid nefropati"]}},"xrefs":[{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"413381774"},{"source":"MONDO","code":"0016533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679845","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":85450,"name":"Hereditary amyloidosis with primary renal involvement","classifications":[156,188,196,233]}],"children":[],"genes":[{"symbol":"APOA2","name":"apolipoprotein A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11401442[PMID]","hgnc":"601","ensembl":"ENSG00000158874","omim":"107670","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}