{"orpha":93562,"name":"AFib amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial amyloid nephropathy due to fibrinogen A alpha-chain variant","Fibrinogen A alpha-chain amyloidosis","Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant","Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93562/","orphanet_url":"https://www.orpha.net/en/disease/detail/93562","names":{"fr":{"name":"Amylose AFib","synonyms":["Amylose rénale familiale due à un variant du fibrinogène A chaîne alpha","Amylose rénale héréditaire due à un variant du fibrinogène A chaîne alpha","Amylose à chaîne alpha du fibrinogène A","Néphropathie amyloïde familiale due à un variant du fibrinogène A chaîne alpha","Néphropathie amyloïde héréditaire due à un variant du fibrinogène A chaîne alpha"],"definition":"Amylose héréditaire rare avec atteinte rénale primaire caractérisée par des dépôts amyloïdes de fibrinogène A chaîne alpha principalement dans les glomérules rénaux, se manifestant cliniquement par une hypertension, une urémie, un syndrome néphrotique évoluant lentement vers une insuffisance rénale terminale. Une atteinte extrarénale est possible, en raison de dépôts amyloïdes dans le système nerveux, le coeur, les viscères et les vaisseaux."},"de":{"name":"AFib-Amyloidose","synonyms":["Amyloidnephropathie, familiäre, durch fibrinogene A-alpha-Ketten-Variante","Amyloidose, familiäre renale, durch fibrinogene A-alpha-Ketten-Variante","Fibrinogen A-alpha-Ketten-Amyloidose","Hereditäre renale Amyloidose durch fibrinogene A-alpha-Ketten-Variante"],"definition":"Eine hereditäre Form der Amyloidose mit primärer Nierenbeteiligung, die durch Fibrinogen-A-alpha-Ketten-Amyloidablagerungen vorwiegend in den Nierenglomeruli gekennzeichnet ist und sich klinisch durch Bluthochdruck, Urämie und nephrotisches Syndrom äußert, das langsam in eine Nierenerkrankung im Endstadium übergeht. Eine Beteiligung außerhalb der Nieren ist aufgrund neurologischer, kardialer, viszeraler und vaskulärer Amyloidablagerungen möglich."},"es":{"name":"Amiloidosis AFib","synonyms":["Amiloidosis del fibrinógeno A cadena alfa","Amiloidosis renal hereditaria por una variante de la cadena alfa del fibrinógeno A","Nefropatía amiloide familiar por una variante de la cadena alfa del fibrinógeno A","Nefropatía amiloide hereditaria por una variante de la cadena alfa del fibrinógeno A"],"definition":"Es una amiloidosis hereditaria poco frecuente con afectación renal primaria caracterizada por la deposición amiloide de la cadena alfa del fibrinógeno A, predominantemente en los glomérulos renales. Clínicamente, la enfermedad se presenta con hipertensión, uremia y síndrome nefrótico que progresa lentamente a enfermedad renal terminal. La afectación extra-renal es posible debido a la deposición amiloide a nivel neuronal, cardíaco, visceral y vascular."},"it":{"name":"Amiloidoisi AFib","synonyms":["Amiloidosi da catena alfa del fibrinogeno A","Amiloidosi renale ereditaria da variante della catena alfa del fibrinogeno A","Nefropatia amiloide ereditaria da variante della catena alfa del fibrinogeno A","Nefropatia amiloide familiare da variante della catena alfa del fibrinogeno A"],"definition":"L'amiloidosi AFib è un'amiloidosi ereditaria rara con interessamento primitivo dei reni, caratterizzata da depositi di amiloide da catena alfa del fibrinogeno A, localizzati soprattutto nei glomeruli renali. I segni clinici comprendono l'ipertensione, l'uremia e la sindrome nefrosica che progredisce lentamente verso la malattia renale terminale. È possibile un interessamento extrarenale, causato dai depositi di amiloide nel sistema nervoso, nel cuore, nei visceri e nei vasi."},"nl":{"name":"AFib-amyloïdose","synonyms":["Erfelijke amyloïde nefropathie als gevolg van fibrinogeen A-alfa-ketenvariant","Erfelijke renale amyloïdose als gevolg van fibrinogeen A-alfa-ketenvariant","Familiale amyloïde nefropathie als gevolg van fibrinogeen A-alfa-ketenvariant","Familiale renale amyloïdose als gevolg van fibrinogeen A-alfa-ketenvariant","Fibrinogeen A-alfa-ketenamyloïdose"],"definition":"Een zeldzame, erfelijke amyloïdose met primaire betrokkenheid van de nieren, die gekarakteriseerd wordt door afzetting van amyloïd van fibrinogeen A-alfaketen in voornamelijk de glomeruli van de nieren, en die zich klinisch presenteert met hypertensie, uremie, en nefrotisch syndroom dat traag evolueert tot terminaal nierfalen. Extra-renale betrokkenheid is mogelijk als gevolg van neurologische, cardiale, viscerale en vasculaire afzetting van amyloïd."},"pt":{"name":"Amiloidose do fibrinogénio A-alfa"},"pl":{"name":"Amyloidoza AFib","synonyms":["Amyloidoza fibrynogenu A łańcuchów alfa","Dziedziczna amyloidoza nerek spowodowana wariantem fibrynogenu A łańcuchów alfa","Dziedziczna nefropatia amyloidowa spowodowana wariantem fibrynogenu A łańcuchów alfa","Rodzinna nefropatia amyloidowa spowodowana wariantem fibrynogenu A łańcuchów alfa"]},"cs":{"name":"AFib amyloidóza","synonyms":["Familiární amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce","Fibrinogen A alfa-řetězec amyloidóza","Dědičná amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce","Dědičná renální amyloidóza způsobená variantou fibrinogen A alfa-řetězce"]},"uk":{"name":"Амілоїдоз AFib","synonyms":["Сімейна амілоїдна нефропатія, зумовлена варіантом альфа-ланцюга фібриногену А","Амілоїдоз альфа-ланцюга фібриногену А","Спадкова амілоїдна нефропатія, зумовлена варіантом альфа-ланцюга фібриногену А","Спадковий амілоїдоз нирок, зумовлений варіантом альфа-ланцюга фібриногену А"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition."},"zh":{"name":"纤维蛋白原α型淀粉样变性","synonyms":["纤维蛋白原α链突变所致遗传性淀粉样肾病"],"definition":"一种罕见的遗传性淀粉样变性，伴原发性肾脏受累，以纤维蛋白原A-α链淀粉样蛋白主要沉积于肾小球为特征，临床表现为高血压、尿毒症、肾病综合征，肾病综合征后期缓慢进展为终末期肾病。淀粉样蛋白可在神经、心脏、内脏和血管沉积，导致肾外器官的累及。"},"tr":{"name":"AFib amiloidoz","synonyms":["Fibrinojen A alfa zinciri amiloidozu","Fibrinojen A alfa zinciri varyantına bağlı ailesel amiloid nefropati","Fibrinojen A alfa zinciri varyantına bağlı kalıtsal renal amiloidoz","Fibrinojen A alfa zinciri varyantına bağlı kalıtsal amiloid nefropati"]}},"xrefs":[{"source":"OMIM","code":"105200","qualifier":"NTBT","icd_relation":null,"validated":true},{"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":"141110588"},{"source":"MONDO","code":"0019733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680267","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":"FGA","name":"fibrinogen alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9389696[PMID]","hgnc":"3661","ensembl":"ENSG00000171560","omim":"134820","loci":["4q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}