{"orpha":330001,"name":"Wild type ATTR amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATTRwt amyloidosis","ATTRwt-related amyloidosis","Senile systemic amyloidosis","Wild type ATTR-related amyloidosis"],"definition":"A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330001/","orphanet_url":"https://www.orpha.net/en/disease/detail/330001","names":{"fr":{"name":"Amylose ATTR wild type","synonyms":["Amylose associée à TTRwt","Amylose systémique sénile","Amylose à ATTRwt"],"definition":"Forme courante d'amylose systémique caractérisée par le dépôt de transthyrétine de type sauvage principalement dans le coeur et les tissus mous (à savoir, la zone du canal carpien, le canal lombaire et les tendons)."},"de":{"name":"Wildtyp-ATTR-Amyloidose","synonyms":["ATTRwt-Amyloidose","Amyloidose, ATTRwt-assoziierte","Senile systemische Amyloidose","Wild-Typ ATTR-abhängige Amyloidose"],"definition":"Eine häufigere Form der systemischen Amyloidose, die durch Ablagerungen von Wildtyp-Transthyretin vorwiegend im Herzen und in den Weichteilen (vor allem in der Karpaltunnelregion, im Lumbalkanal und in den Sehnen) gekennzeichnet ist."},"es":{"name":"Amiloidosis ATTR forma nativa","synonyms":["Amiloidosis ATTRwt","Amiloidosis asociada a ATTR tipo salvaje","Amiloidosis asociada a ATTRwt","Amiloidosis sistémica senil"],"definition":"Es una forma común de amiloidosis sistémica caracterizada por el depósito de transtiretina <i>wild type</i> predominantemente en el corazón y en los tejidos blandos (principalmente en la región del túnel carpiano, en el canal lumbar y en los tendones)."},"it":{"name":"Amiloidosi ATTR tipo selvatico","synonyms":["Amiloidosi ATTRwt","Amiloidosi correlata a ATTR tipo selvatico","Amiloidosi correlata a ATTRwt","Amiloidosi sistemica senile"],"definition":"L'amiloidosi ATTR tipo selvatico (amiloidosi ATTRwt) è una forma comune di amiloidosi sistemica, caratterizzata da depositi di transtiretina di tipo selvatico localizzati prevalentemente nel cuore e nei tessuti molli (soprattutto nella regione del tunnel carpale, nel canale lombare e nei tendini)."},"nl":{"name":"Wild-type ATTR-amyloïdose","synonyms":["ATTRwt-amyloïdose","ATTRwt-gerelateerde amyloïdose","Seniele systemische amyloïdose","Wild-type ATTR-gerelateerde amyloïdose"],"definition":"Een veel voorkomende vorm van systemische amyloïdose, gekenmerkt door depositie van wild-type transthyretine, hoofdzakelijk in hart en weke delen (vooral ter hoogte van carpale tunnel, lumbaal wervelkanaal en pezen)."},"pt":{"name":"Amiloidose ATTR tipo selvagem","synonyms":["Amiloidose ATTR-relacionada tipo selvagem","Amiloidose ATTRwt","Amiloidose ATTRwt-relacionada","Amiloidose sistémica senil"],"definition":"Forma comum de amiloidose sistémica caracterizada pela deposição de transtirretina, do tipo selvagem, predominantemente no coração e nos tecidos moles (principalmente na região do túnel do carpo, canal lombar e tendões)."},"pl":{"name":"Dziki typ amyloidozy ATTR","synonyms":["Amyloidoza ATTRwt","Amyloidoza zależna od ATTRwt","Dziki typ amyloidozy zależnej od ATTRwt","SSA","Starcza amyloidoza układowa","Amyloidoza związana z dzikim typem ATTR"]},"cs":{"name":"Divoký typ ATTR amyloidózy","synonyms":["ATTRwt amyloidóza","ATTRwt-vázaná amyloidóza","SSA","Senilní systémová amyloidóza","Divoký typ ATTR-vázané amyloidózy"]},"uk":{"name":"Амілоїдоз ATTR дикого типу","synonyms":["Амілоїдоз ATTRwt","Амілоїдоз, повязаний з ATTRwt","Старечий системний амілоїдоз","Амілоїдоз дикого типу, повязаний з ATTR"],"definition":"A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons)."},"zh":{"name":"野生型ATTR淀粉样变性","synonyms":["野生型ATTR相关淀粉样变性"],"definition":"一种罕见的系统性淀粉样变性，其特征是包含多种症状，取决于所涉及的器官。常见的临床特征有心力衰竭、心传导异常或心律失常、肾功能不全、腕管综合征和椎管狭窄。组织学显示野生型转甲状腺素的纤维状淀粉样沉积主要存在于肾脏、心脏、胃肠道、皮肤和腱鞘膜组织。"},"tr":{"name":"Yabani tip ATTR amiloidoz","synonyms":["SSA","ATTRwt amiloidoz","ATTRwt-ilişkili amiloidoz","Senil sistemik amiloidoz","Yabanıl tip ATTR-ilişkili amiloidoz"]}},"xrefs":[{"source":"ICD-10","code":"E85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"25699053"},{"source":"MONDO","code":"0018018","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342623","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":1.72,"area":"Worldwide","status":"Validated","source":"32633805[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-04-01","source":"35343098[PMID]_34994254[PMID]_27568874[PMID]_26224076[PMID]","terms":[{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:4000004","label":"Myocardial late gadolinium enhancement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031327","label":"Transthyretin cardiac amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005341","label":"Autonomic bladder dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025077","label":"Decreased QRS voltage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031185","label":"Increased circulating NT-proBNP concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410173","label":"Increased circulating troponin I concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410174","label":"Increased circulating troponin T concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}