{"orpha":85445,"name":"AA amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Inflammatory amyloidosis","Reactive amyloidosis"],"definition":"A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85445/","orphanet_url":"https://www.orpha.net/en/disease/detail/85445","names":{"fr":{"name":"Amylose AA","synonyms":["Amylose inflammatoire","Amylose réactive"],"definition":"Amylose rare qui complique les maladies inflammatoires chroniques secondaire au dépôt de fibrilles amyloïdes dérivé de l'amyloïde sérique A, une protéine de phase aiguë. L'atteinte rénale concerne pratiquement tous les patients et domine le tableau clinique. Les autres organes fréquemment touchés sont le foie, la rate, la glande surrénale, l'intestin et, plus rarement, le coeur."},"de":{"name":"AA-Amyloidose","synonyms":["Amyloidose, inflammatorische","Amyloidose, reaktive"],"definition":"Eine seltene Form der Amyloidose, die als Komplikation chronischer entzündlicher Erkrankungen auftritt und durch die Aggregation und Ablagerung von Amyloidfibrillen aus Serum-Amyloid-A-Protein, einem Akut-Phase-Reaktanten, gekennzeichnet ist. Die Niere ist bei fast allen Patienten betroffen und dominiert das klinische Bild. Andere häufig betroffene Stellen sind die Leber, die Milz, die Nebenniere, der Darm und seltener das Herz."},"es":{"name":"Amiloidosis AA","synonyms":["Amiloidosis inflamatoria","Amiloidosis reactiva"],"definition":"Es una amiloidosis poco frecuente que complica los trastornos inflamatorios crónicos y que se caracteriza por la agregación y el depósito de fibrillas amiloideas compuestas por proteína amiloide A sérica, un reactante de fase aguda. El riñón está afectado en prácticamente todos los pacientes y domina el cuadro clínico. Otros sitios frecuentemente afectados son el hígado, el bazo, la glándula suprarrenal, el intestino y, con menor frecuencia, el corazón."},"it":{"name":"Amiloidosi AA","synonyms":["Amiloidosi infiammatoria","Amiloidosi reattiva","Amiloidosi secondaria"],"definition":"Si tratta di una forma rara di amiloidosi che complica le malattie infiammatorie croniche, ed è caratterizzata dall'aggregazione e dal deposito di fibrille amiloidi composte dalla proteina amiloide A sierica, un reagente di fase acuta. Virtualmente tutti i pazienti presentano un interessamento renale, che rappresenta il segno clinico principale della malattia. Altri organi spesso coinvolti sono il fegato, la milza, la ghiandola surrenale, l'intestino e, più di rado, il cuore."},"nl":{"name":"AA-amyloïdose","synonyms":["Inflammatoire amyloïdose","Reactieve amyloïdose"],"definition":"Een zeldzame amyloïdose die chronische inflammatoire aandoeningen compliceert, en die gekenmerkt wordt door aggregatie en depositie van amyloïdfibrillen bestaande uit serum amyloïd A-proteïne, een acutefase-eiwit. Betrokkenheid van nier wordt bij nagenoeg alle patiënten waargenomen, en domineert het klinische beeld. Andere delen die vaak betrokken zijn, zijn lever, milt, bijnier, maag-darmstelsel, en minder frequent hart."},"pt":{"name":"Amiloidose AA","synonyms":["Amiloidose inflamatória","Amiloidose reactiva"],"definition":"Uma forma rara de amiloidose que complica doenças inflamatórias crónicas e é caracterizada pela agregação e deposição de fibrilhas amilóides compostas de proteína amilóide A sérica, um reagente de fase aguda. O envolvimento renal ocorre em praticamente todos os doentes e domina o quadro clínico. Outros orgãos frequentemente envolvidos são o fígado, o baço, a glândula suprarrenal, o intestino e, menos frequentemente, o coração."},"pl":{"name":"Amyloidoza AA","synonyms":["Amyloidoza reaktywna","Amyloidoza wtórna","Amyloidoza zapalna"]},"cs":{"name":"AA amyloidóza","synonyms":["Reaktivní amyloidóza","Sekundární amyloidóza","Zánětlivá amyloidóza"]},"uk":{"name":"Амілоїдоз АА","synonyms":["Запальний амілоїдоз","Реактивний амілоїдоз"],"definition":"A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart."},"zh":{"name":"AA型淀粉样变性","synonyms":["炎症性淀粉样变"]},"tr":{"name":"AA amiloidoz","synonyms":["Reaktif amiloidoz","Sekonder amiloidoz","İnflamatuar amiloidoz"]}},"xrefs":[{"source":"ICD-10","code":"E85.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5D00.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"570181034"},{"source":"MONDO","code":"0019439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000718787","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3536715","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10560","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039811","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":209013,"name":"Acquired amyloid peripheral neuropathy","classifications":[181]},{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[{"symbol":"SAA1","name":"serum amyloid A1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16118480[PMID]_16874691[PMID]_16219644[PMID]_18369528[PMID]","hgnc":"10513","ensembl":"ENSG00000173432","omim":"104750","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-05","source":"28462876[PMID]_29261990[PMID]_30274625[PMID]_25023854[PMID]","terms":[{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001917","label":"Renal amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025077","label":"Decreased QRS voltage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030164","label":"Jaw claudication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very rare (<4-1%)","criteria":null}]}}