{"orpha":93560,"name":"AApoAI amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Apolipoprotein A-I amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-I variant","Familial renal amyloidosis due to apolipoprotein A-I variant","Hereditary amyloid nephropathy due to apolipoprotein A-I variant","Hereditary renal amyloidosis due to apolipoprotein A-I variant"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93560/","orphanet_url":"https://www.orpha.net/en/disease/detail/93560","names":{"fr":{"name":"Amylose AApoAI","synonyms":["Amylose rénale familiale due à un variant de l'apolipoprotéine A-I","Amylose rénale héréditaire due à un variant de l'apolipoprotéine A-I","Amylose à apolipoprotéine A-I","Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine A-I","Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine A-I"],"definition":"Amylose héréditaire rare avec atteinte rénale primaire caractérisée par un dépôt d'amyloïde dans l'interstitium rénal et la médullaire rénale, de faibles taux plasmatiques d'ApoA-1 et une progression lente de la maladie. Les principaux signes cliniques et symptômes sont une hypertension, une protéinurie, une hématurie et un oedème dus à une insuffisance rénale chronique conduisant à une insuffisance rénale terminale. Une hépatosplénomégalie, une cardiomyopathie progressive et une atteinte de la peau, des testicules et des glandes surrénales (hypogonadisme hypergonadotrope) ont également été rapportées."},"de":{"name":"AApoAI-Amyloidose","synonyms":["Amyloidnephropathie, familiäre, Apolipoprotein A-I-Variante","Amyloidose, familiäre renale, durch Apolipoprotein A-I-Variante","Apolipoprotein A-I-Amyloidose","Hereditäre renale Amyloidose durch Apolipoprotein A-I-Variante"],"definition":"Eine erbliche Form der Amyloidose mit primärer Nierenbeteiligung, die durch interstitielle und medulläre Amyloidablagerungen in der Niere, niedrige ApoA-1-Plasmaspiegel und ein langsames Fortschreiten der Krankheit gekennzeichnet ist. Die wichtigsten klinischen Anzeichen und Symptome sind Bluthochdruck, Proteinurie, Hämaturie und Ödeme aufgrund einer chronischen Niereninsuffizienz, die zu einer Nierenerkrankung im Endstadium führt. Es wurde auch über Hepatosplenomegalie, progressive Kardiomyopathie und eine Beteiligung von Haut, Hoden und Nebennieren (hypergonadotroper Hypogonadismus) berichtet."},"es":{"name":"Amiloidosis AApoAI","synonyms":["Amiloidosis por apolipoproteína A-I","Amiloidosis renal familiar por una variante de la apolipoproteína A-I","Amiloidosis renal hereditaria por una variante de la apolipoproteína A-I","Nefropatía amiloide familiar por una variante de la apolipoproteína A-I","Nefropatía amiloide hereditaria por una variante de la apolipoproteína A-I"],"definition":"Es una amiloidosis hereditaria poco frecuente con afectación renal primaria caracterizada por depósitos amiloides en el intersticio y la médula renal, niveles plasmáticos bajos de ApoA-1 y progresión lenta de la enfermedad. Los principales signos y síntomas clínicos son hipertensión, proteinuria, hematuria y edema debido a insuficiencia renal crónica que evoluciona a enfermedad renal terminal. También se ha descrito hepatoesplenomegalia, miocardiopatía progresiva y afectación cutánea, suprarrenal y testicular (hipogonadismo hipergonadotrópico)"},"it":{"name":"Amiloidosi AApoAI","synonyms":["Amiloidosi da apolipoproteina A-l","Amiloidosi renale ereditaria da variante dell'apolipoproteina A-I","Amiloidosi renale familiare da variante dell'apolipoproteina A-I","Nefropatia amiloide ereditaria da variante dell'apolipoproteina A-I","Nefropatia amiloide familiare da variante dell'apolipoproteina A-I"],"definition":"L'amiloidosi AApoAI è un'amiloidosi ereditaria rara con interessamento primitivo dei reni, caratterizzata da depositi di amiloide nell'interstizio e nella midollare renale, livelli bassi di ApoA-1 nel plasma e progressione lenta. I principali segni clinici sono l'ipertensione, la proteinuria, l'ematuria e l'edema, secondari all'insufficienza renale cronica, che esita nella malattia renale terminale. Sono stati descritti pazienti con epatosplenomegalia, cardiomiopatia progressiva e interessamento della cute, dei testicoli e dei surreni (ipogonadismo ipergonadotropo)."},"nl":{"name":"AApoAI-amyloïdose","synonyms":["Apolipoproteïne A-I-amyloïdose","Erfelijke amyloïde nefropathie als gevolg van apolipoproteïne A-I-variant","Erfelijke renale amyloïdose als gevolg van apolipoproteïne A-I-variant","Familiale amyloïde nefropathie als gevolg van apolipoproteïne A-I-variant","Familiale renale amyloïdose als gevolg van apolipoproteïne A-I-variant"],"definition":"Een zeldzame, erfelijke amyloïdose met primaire betrokkenheid van de nieren, gekarakteriseerd door afzetting van amyloïd in interstitium en merg van de nieren, lage ApoA-1-gehaltes in plasma, en een trage progressie van de ziekte. De voornaamste klinische tekenen en symptomen zijn hypertensie, proteïnurie, hematurie en oedeem als gevolg van chronische nierinsufficiëntie die leidt tot terminaal nierfalen. Hepatosplenomegalie, progressieve cardiomyopathie en betrokkenheid van huid, testes en bijnieren (hypergonadotroop hypogonadisme) werden ook reeds gerapporteerd."},"pt":{"name":"Amiloidose da apolipoproteína AI"},"pl":{"name":"Amyloidoza AApoAI","synonyms":["Amyloidoza związana z apolipoproteiną A - wariant I","Dziedziczna amyloidoza nerek spowodowana wariantem I apolipoproteiny A","Dziedziczna nefropatia amyloidowa spowodowana wariantem I apolipoproteiny A","Rodzinna amyloidoza nerek spowodowana wariantem I apolipoproteiny A","Rodzinna nefropatia amyloidowa spowodowana wariantem I apolipoproteiny A"]},"cs":{"name":"AApoAI amyloidóza","synonyms":["Apolipoprotein A-I amyloidóza","Familiární amyloidová nefropatie způsobená variantou apolipoproteinu A-I","Familiární renální amyloidóza způsobená variantou apolipoproteinu A-I","Dědičná amyloidová nefropatie způsobená variantou apolipoproteinu A-I","Dědičná renální amyloidóza způsobená variantou apolipoproteinu A-I"]},"uk":{"name":"Амілоїдоз AApoAI","synonyms":["Амілоїдоз аполіпопротеїну A-I","Сімейна амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну A-I","Сімейний амілоїдоз нирок, зумовлений варіантом аполіпопротеїну A-I","Спадкова амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну A-I","Спадковий амілоїдоз нирок, зумовлений варіантом аполіпопротеїну A-I"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported."},"zh":{"name":"载脂蛋白AI型淀粉样变性","synonyms":["载脂蛋白A-I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，其特征为肾间质和肾髓质淀粉样蛋白沉积，血浆ApoA-1水平低，疾病进展缓慢。主要临床体征和症状为高血压、蛋白尿、血尿和慢性肾功能不全引起的水肿，最终导致终末期肾病。也有肝脾肿大、进行性心肌病和皮肤、睾丸和肾上腺受累（高促性腺激素性性腺机能减退症）的报道。"},"tr":{"name":"AApoAI amiloidoz","synonyms":["Apolipoprotein A-I amiloidoz","Apolipoprotein A-I varyantına bağlı ailesel renal amiloidoz","Apolipoprotein A-I varyantına bağlı ailesel amiloid nefropati","Apolipoprotein A-I varyantına bağlı kalıtsal renal amiloidoz","Apolipoprotein A-I 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":"259303873"},{"source":"MONDO","code":"0019731","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680269","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":"APOA1","name":"apolipoprotein A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19324996[PMID]","hgnc":"600","ensembl":"ENSG00000118137","omim":"107680","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}