{"orpha":439232,"name":"AApoAIV amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Apolipoprotein A-IV amyloidosis"],"definition":"A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439232/","orphanet_url":"https://www.orpha.net/en/disease/detail/439232","names":{"fr":{"name":"Amylose AApoAIV","synonyms":["Amylose à apolipoprotéine A-IV"],"definition":"Amyloïdose systémique non héréditaire rare caractérisée par un dysfonctionnement rénal lentement progressif, un taux de créatinine sérique élevé, une analyse d'urine généralement normale sans protéinurie significative et une cardiopathie associée. L'atteinte cardiaque se manifeste par une cardiomyopathie hypertrophique obstructive, une obstruction de la voie d'écoulement du ventricule gauche, une coronaropathie et un trouble de la conduction cardiaque. L'histologie met en évidence une atrophie des tubules rénaux, une fibrose interstitielle, une sclérose glomérulaire."},"de":{"name":"AApoAIV-Amyloidose","synonyms":["Apolipoprotein A-IV-Amyloidose"],"definition":"Eine nicht hereditäre Form der systemischen Amyloidose, die durch eine langsam fortschreitende Nierenfunktionsstörung, ein erhöhtes Serumkreatinin, eine meist normale Urinanalyse ohne signifikante Proteinurie und eine damit verbundene Herzerkrankung gekennzeichnet ist. Die kardiale Beteiligung äußert sich in Form einer hypertrophen obstruktiven Kardiomyopathie, einer Obstruktion des linksventrikulären Ausflusstrakts, einer koronaren Herzkrankheit und Anomalien des Reizleitungssystems. Die Histologie zeigt medulläre Amyloidablagerungen, Nierentubularatrophie, interstitielle Fibrose und glomeruläre Sklerose."},"es":{"name":"Amiloidosis AApoAIV","synonyms":["Amiloidosis por apolipoproteína A-IV"],"definition":"Es una amiloidosis sistémica no hereditaria poco frecuente caracterizada por disfunción renal lentamente progresiva, aumento de la creatinina sérica, análisis de orina en su mayoría normales sin proteinuria significativa y enfermedad cardíaca asociada. La afectación cardíaca se presenta como miocardiopatía hipertrófica obstructiva, obstrucción del tracto de salida del ventrículo izquierdo, enfermedad de las arterias coronarias y anomalías del sistema de conducción cardiaco. Los estudios histológicos revelan depósitos de amiloide a nivel medular, atrofia tubular renal, fibrosis intersticial y esclerosis glomerular."},"it":{"name":"Amiloidosi AApoAIV","synonyms":["Amiloidosi da apolipoproteina A-IV"],"definition":"È un'amiloidosi sistemica rara, caratterizzata da disfunzione renale a progressione lenta, aumento della creatinina nel siero, analisi delle urine per lo più normali, in assenza di proteinuria significativa. Le cardiopatie associate comprendono la cardiomiopatia ipertrofica ostruttiva, l'ostruzione del tratto di efflusso del ventricolo sinistro, la coronaropatia e le anomalie del sistema di conduzione. Gli esami istologici evidenziano atrofia tubulare renale, fibrosi interstiziale, sclerosi glomerulare e depositi di amiloide nella midollare."},"nl":{"name":"AApoAIV-amyloïdose","synonyms":["Apolipoproteïne A-IV-amyloïdose"],"definition":"Een zeldzame, niet-erfelijke systemische amyloïdose, gekenmerkt door traag progressieve nierdisfunctie, verhoogd creatininegehalte in serum, overwegend normale analyse van urine zonder significante proteïnurie, en geassocieerde hartziekte. Betrokkenheid van het hart uit zich als hypertrofische obstructieve cardiomyopathie, obstructie van de uitstroombaan van linkerventrikel, kransslagaderziekte en afwijkingen van het geleidingssysteem. Histologisch onderzoek toont afzetting van amyloïd in niermerg, atrofie van nierbuisjes, interstitiële fibrose, en glomerulaire sclerose."},"pt":{"name":"Amiloidose AApoAIV","definition":"Amiloidose sistémica não hereditária rara caracterizada por disfunção renal lentamente progressiva, aumento da creatinina sérica, análise de urina geralmente normal, sem proteinúria significativa, e doença cardíaca associada. O envolvimento cardíaco apresenta-se como cardiomiopatia hipertrófica obstrutiva, obstrução da via de saída do ventrículo esquerdo, doença arterial coronária e anomalias do sistema de condução. A histologia revela depósitos amiloides medulares, atrofia tubular renal, fibrose intersticial e esclerose glomerular."},"pl":{"name":"Amyloidoza AApoAIV","synonyms":["Amyloidoza apolipoproteinowa A-IV"]},"cs":{"name":"AApoAIV amyloidóza","synonyms":["Apolipoprotein A-IV amyloidóza"]},"uk":{"name":"Амілоїдоз AApoAIV","synonyms":["Амілоїдоз аполіпопротеїну A-IV"],"definition":"A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis."},"zh":{"name":"AApoAIV 淀粉样变性","synonyms":["载脂蛋白A-IV淀粉样变性"],"definition":"罕见的全身性淀粉样变性病，特征在于缓慢进行性肾功能不全，血清肌酐升高，尿液分析大部分情况下正常，无明显的蛋白尿和相关的心脏病。心脏受累表现为肥厚性梗阻性心肌病，左心室流出道梗阻，冠状动脉疾病和传导系统异常。组织学检查显示肾小管萎缩，间质纤维化，肾小球硬化和髓样淀粉样蛋白沉积。"},"tr":{"name":"AApoAIV amiloidoz","synonyms":["Apolipoprotein A-IV amiloidozis"]}},"xrefs":[{"source":"ICD-10","code":"E85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1235542353"},{"source":"MONDO","code":"0018589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568805","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":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11467836[PMID]_21900878[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11467836[PMID]_21900878[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-08","source":"37681056[PMID]_28449784[PMID]_28828707[PMID]_27262366[PMID]_32861330[PMID]","terms":[{"hpo":"HP:0100957","label":"Abnormal renal medulla morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032613","label":"Renal interstitial amyloid deposits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000096","label":"Glomerulosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011713","label":"Left bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034807","label":"Paroxysmal nocturnal dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012309","label":"Cutaneous amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001688","label":"Sinus bradycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004381","label":"Supravalvular aortic stenosis","frequency":"Very rare (<4-1%)","criteria":null}]}}