{"orpha":85450,"name":"Hereditary amyloidosis with primary renal involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Amyloidosis, Ostertag type","Familial amyloid nephropathy","Familial renal amyloidosis","Hereditary amyloid nephropathy","Hereditary renal amyloidosis"],"definition":"A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85450/","orphanet_url":"https://www.orpha.net/en/disease/detail/85450","names":{"fr":{"name":"Amylose héréditaire avec atteinte rénale primaire","synonyms":["Amylose d'Ostertag","Amylose rénale familiale","Amylose rénale héréditaire","Néphropathie amyloïde familiale","Néphropathie amyloïde héréditaire"],"definition":"Groupe de maladies rénales rares caractérisées par un dépôt de fibrilles amyloïdes d'apolipoprotéine A-I ou A-II (amylose AApoAI ou AApoAII), de lysozyme (amylose ALys) ou de fibrinogène A chaîne alpha (amylose AFib) dans un ou plusieurs organes. L'atteinte rénale conduisant à une maladie rénale chronique et à une insuffisance rénale est un signe courant. Les autres manifestations dépendent de l'organe concerné et du type de fibrilles amyloïdes formant les dépôts."},"de":{"name":"Hereditäre Amyloidose mit vorwiegender Nierenbeteiligung","synonyms":["Amyloidnephropathie, familiäre","Amyloidnephropathie, hereditäre","Amyloidose Typ Ostertag","Amyloidose, familiäre renale"],"definition":"Eine Gruppe seltener Nierenerkrankungen, die durch Ablagerungen von Amyloidfibrillen aus Apolipoprotein A-I oder A-II (AApoAI- oder AApoAII-Amyloidose), Lysozym (ALys-Amyloidose) oder Fibrinogen A-alpha-Kette (AFib-Amyloidose) in einem oder mehreren Organen gekennzeichnet sind. Eine Nierenbeteiligung, die zu einer chronischen Nierenerkrankung und Nierenversagen führt, ist ein häufiges Zeichen. Weitere Erscheinungsformen hängen von dem betroffenen Organ und der Art der abgelagerten Amyloidfibrillen ab."},"es":{"name":"Amiloidosis hereditaria con afectación renal primaria","synonyms":["Amiloidosis renal familiar","Amiloidosis renal hereditaria","Amiloidosis tipo Ostertag","Nefropatía amiloide familiar","Nefropatía amiloide hereditaria"],"definition":"Es un grupo de enfermedades renales poco frecuentes, caracterizadas el depósito de fibrillas amiloides de apolipoproteína A-I o A-II (amiloidosis AApoAI o AApoAII), lisozima (amiloidosis ALys) o de la cadena alfa del fibrinógeno A (amiloidosis AFib) en uno o varios órganos. Un rasgo común de este grupo de enfermedades es la afectación renal conducente a enfermedad crónica renal e insuficiencia renal. Las manifestaciones adicionales dependen del órgano afectado y del tipo de fibrillas amiloides depositadas."},"it":{"name":"Amiloidosi ereditaria con interessamento renale primitivo","synonyms":["Amiloidosi renale familiare","Amiloidosi, tipo Ostertag","Nefropatia amiloide ereditaria","Nefropatia amiloide familiare"],"definition":"Si tratta di un gruppo di malattie renali rare, caratterizzate da depositi di fibrille amiloidi di apolipoproteina A-I o A-II (amiloidosi AApoAI o AApoAII), lisozima (amiloidosi ALys) o catena alfa del fibrinogeno-A (amiloidosi AFib), in uno o più organi. È comune l'interessamento renale che esita nell'insufficienza renale. Altri segni clinici dipendono dall'organo interessato e dal tipo di fibrille amiloidi depositate."},"nl":{"name":"Erfelijke amyloïdose met primaire renale betrokkenheid","synonyms":["Amyloïdose, Ostertag-type","Erfelijke amyloïde nefropathie","Erfelijke amyloïdose met primaire betrokkenheid van de nieren","Erfelijke renale amyloïdose","Familiale amyloïde nefropathie","Familiale renale amyloïdose"],"definition":"Een groep van nierziekten die gekarakteriseerd worden door afzetting van amyloïdfibrillen van apolipoproteïne A-I of A-II (AApoAI- of AApoAII-amyloïdose), lysozym (ALys-amyloïdose) of fibrinogeen A-alfaketen (AFib-amyloïdose) in een of meerdere organen. Betrokkenheid van de nieren leidt tot chronische nierziekte en nierfalen is een gangbaar teken. Bijkomende manifestaties zijn afhankelijk van het aangetaste orgaan en het type van amyloïdfibrillen dat wordt afgezet."},"pt":{"name":"Nefropatia amiloidótica familiar"},"pl":{"name":"Dziedziczna amyloidoza z pierwotnym zajęciem nerek","synonyms":["Amyloidoza, typ Ostertaga","Dziedziczna amyloidoza nerek","Dziedziczna nefropatia amyloidowa","Rodzinna amyloidoza nerkowa","Rodzinna nefropatia amyloidowa"]},"cs":{"name":"Hereditární amyloidóza s primárním postižením ledvin","synonyms":["Familiární amyloidní nefropatie","Familiární renální amyloidóza","Hereditární amyloidní nefropatie","Hereditární renální amyloidóza","Amyloidóza, Ostertagův typ"]},"uk":{"name":"Спадковий амілоїдоз з первинним ураженням нирок","synonyms":["Амілоїдоз, тип Остертага","Сімейна амілоїдна нефропатія","Сімейний амілоїдоз нирок","Спадкова амілоїдна нефропатія","Спадковий амілоїдоз нирок"],"definition":"A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited."},"zh":{"name":"遗传性淀粉样变性伴原发性肾脏受累","synonyms":["遗传性淀粉样神经病"]},"tr":{"name":"Primer böbrek tutulumu ile seyreden kalıtsal amiloidoz","synonyms":["Amiloidoz, Ostertag tipi","Ailesel renal amiloidoz","Ailesel amiloid nefropati","Kalıtsal renal amiloidoz","Kalıtsal amiloid nefropati"]}},"xrefs":[{"source":"OMIM","code":"105200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2100467097"},{"source":"MONDO","code":"0007099","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268389","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":567556,"name":"Genetic systemic disease with glomerulopathy as a major feature","classifications":[156,188,233]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[{"orpha":93560,"name":"AApoAI amyloidosis","type":"Clinical subtype"},{"orpha":238269,"name":"AApoAII amyloidosis","type":"Clinical subtype"},{"orpha":93562,"name":"AFib amyloidosis","type":"Clinical subtype"},{"orpha":93561,"name":"ALys amyloidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93560,"name":"AApoAI amyloidosis"}},{"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"],"via":{"orpha":238269,"name":"AApoAII amyloidosis"}},{"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"],"via":{"orpha":93562,"name":"AFib amyloidosis"}},{"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"],"via":{"orpha":93561,"name":"ALys amyloidosis"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-07","source":"25852856[PMID]_31395023[PMID]_32841328[PMID]","terms":[{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032613","label":"Renal interstitial amyloid deposits","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012591","label":"Abnormal urinary electrolyte concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031799","label":"Decreased apolipoprotein AI level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410281","label":"Dyspepsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000092","label":"Renal tubular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005576","label":"Tubulointerstitial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008720","label":"Primary testicular failure","frequency":"Very rare (<4-1%)","criteria":null}]}}