{"orpha":93561,"name":"ALys amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial amyloid nephropathy due to lysozyme variant","Familial renal amyloidosis due to lysozyme variant","Hereditary amyloid nephropathy due to lysozyme variant","Hereditary renal amyloidosis due to lysozyme variant","Lysozyme amyloidosis"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93561/","orphanet_url":"https://www.orpha.net/en/disease/detail/93561","names":{"fr":{"name":"Amylose ALys","synonyms":["Amylose rénale familiale due à un variant du lysozyme","Amylose rénale héréditaire due à un variant du lysozyme","Néphropathie amyloïde familiale due à un variant du lysozyme","Néphropathie amyloïde héréditaire due à un variant du lysozyme","Amylose associée au lysozyme"],"definition":"Amylose héréditaire rare avec atteinte rénale primaire caractérisée par des dépôts amyloïdes dans le glomérule rénal, la médulla, le tractus gastro-intestinal, le foie et la rate, ainsi que par une progression lente. Les signes et symptômes comprennent nausées, vomissements, dyspepsie, gastrite, hémorragie gastro-intestinale, douleurs abdominales, rupture hépatique, syndrome de Gougerot-Sjögren, purpura, pétéchies, lymphadénopathie et dysfonctionnement rénal."},"de":{"name":"ALys-Amyloidose","synonyms":["Amyloidnephropathie, familiäre, durch Lysozym-Variante","Amyloidose, familiäre renale, durch Lysozym-Variante","Hereditäre renale Amyloidose durch Lysozym-Variante"],"definition":"Eine seltene hereditäre Form der Amyloidose mit primärer Nierenbeteiligung, die durch Amyloidablagerungen in den Nierenglomeruli und dem Nierenmark, dem Magen-Darm-Trakt, der Leber und der Milz gekennzeichnet ist und nur langsam voranschreitet. Zu den Symptomen und Anzeichen gehören Übelkeit, Erbrechen, Dyspepsie, Gastritis, gastrointestinale Blutungen, Bauchschmerzen, Leberruptur, Sicca-Syndrom, Purpura und Petechien, Lymphadenopathie und Nierenfunktionsstörung."},"es":{"name":"Amiloidosis ALys","synonyms":["Amiloidosis por lisozima","Amiloidosis renal familiar por una variante de la lisozima","Amiloidosis renal hereditaria por una variante de la lisozima","Nefropatía amiloide familiar por una variante de la lisozima","Nefropatía amiloide hereditaria por una variante de la lisozima"],"definition":"Es una amiloidosis hereditaria poco frecuente con afectación renal primaria caracterizada por depósito de amiloide en los glomérulos y médula renal, tracto gastrointestinal, hígado y bazo, y por una progresión lenta de la enfermedad. Los signos y síntomas incluyen náuseas, vómitos, dispepsia, gastritis, hemorragia gastrointestinal, dolor abdominal, ruptura hepática, síndrome sicca, púrpura y petequias, linfadenopatía y disfunción renal."},"it":{"name":"Amiloidosi ALys","synonyms":["Amiloidosi da lisozima","Amiloidosi renale ereditaria da variante del lisozima","Amiloidosi renale familiare da variante del lisozima","Nefropatia amiloide ereditaria da variante del lisozima","Nefropatia amiloide familiare da variante del lisozima"],"definition":"L'amiloidosi ALys è un'amiloidosi ereditaria rara con interessamento primitivo dei reni, caratterizzata da depositi di amiloide nei glomeruli e nella midollare renale, nel tratto gastrointestinale, nel fegato e nella milza. La progressione della malattia è lenta. I segni clinici comprendono la nausea, il vomito, la dispepsia, la gastrite, le emorragie gastrointestinali, il dolore addominale, la rottura del fegato, la sindrome sicca, la porpora e le petecchie, la linfoadenopatia e la disfunzione renale."},"nl":{"name":"ALys-amyloïdose","synonyms":["Erfelijke amyloïde nefropathie als gevolg van lysozymvariant","Erfelijke renale amyloïdose als gevolg van lysozymvariant","Familiale amyloïde nefropathie als gevolg van lysozymvariant","Familiale renale amyloïdose als gevolg van lysozymvariant","Lysozym-amyloïdose"],"definition":"Een zeldzame, erfelijke amyloïdose met primaire betrokkenheid van de nieren, gekarakteriseerd door afzetting van amyloïd in glomeruli en medulla van de nieren, maag-darmstelsel, lever en milt, en door een trage progressie van de ziekte. Symptomen en tekenen zijn onder meer misselijkheid, braken, dyspepsie, gastritis, gastro-intestinale bloeding, abdominale pijn, leverruptuur, sicca syndroom, purpura en petechiën, lymfadenopathie en nierdisfunctie."},"pt":{"name":"Amiloidose da lisozima"},"pl":{"name":"Amyloidoza ALys","synonyms":["Amyloidoza lizozymowa","Dziedziczna amyloidoza nerek spowodowana wariantem lizozymu","Dziedziczna nefropatia amyloidowa spowodowana wariantem lizozymu","Rodzinna amyloidoza nerek spowodowana wariantem lizozymu","Rodzinna nefropatia amyloidowa spowodowana wariantem lizozymu"]},"cs":{"name":"ALys amyloidóza","synonyms":["Amyloidóza z lysozymu","Familiární amyloidová nefropatie způsobená variantou lysozymu","Familiární renální amyloidóza způsobená variantou lysozymu","Dědičná amyloidová nefropatie způsobená variantou lysozymu","Dědičná renální amyloidóza způsobená variantou lysozymu"]},"uk":{"name":"Аліментарний амілоїдоз","synonyms":["Сімейна амілоїдна нефропатія, зумовлена варіантом лізоциму","Сімейний амілоїдоз нирок, зумовлений лізоцимним варіантом","Спадкова амілоїдна нефропатія, зумовлена варіантом лізоциму","Спадковий амілоїдоз нирок, зумовлений лізоцимним варіантом","Лізоцимний амілоїдоз"],"definition":"A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction."},"zh":{"name":"溶菌酶型淀粉样变性","synonyms":["溶菌酶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，其特征为肾小球和肾髓质、胃肠道、肝脏、脾脏淀粉样蛋白沉积，疾病进展缓慢。症状和体征包括恶心、呕吐、消化不良、胃炎、胃肠道出血、腹痛、肝破裂、干燥综合征、紫癜和瘀点、淋巴结病和肾功能不全。"},"tr":{"name":"ALys amiloidoz","synonyms":["Lizozim amiloidoz","Lizozim varyantına bağlı ailesel renal amiloidoz","Lizozim varyantına bağlı ailesel amiloid nefropati","Lizozim varyantına bağlı kalıtsal renal amiloidoz","Lizozim 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":"831687561"},{"source":"MONDO","code":"0019732","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680270","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":"LYZ","name":"lysozyme","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11849445[PMID]_12675840[PMID]","hgnc":"6740","ensembl":"ENSG00000090382","omim":"153450","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"21988333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21988333[PMID]"}],"phenotypes":null}