{"orpha":271861,"name":"Hereditary ATTR amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATTRv amyloidosis","Familial TTR-related amyloidosis","Familial transthyretin-related amyloidosis","Hereditary TTR amyloid polyneuropathy","Hereditary TTR amyloidosis","Hereditary transthyretin amyloid polyneuropathy","hATTR"],"definition":"A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-271861/","orphanet_url":"https://www.orpha.net/en/disease/detail/271861","names":{"fr":{"name":"Amylose ATTR héréditaire","synonyms":["Amylose de la TTR familiale","Amylose de la transthyrétine familiale"],"definition":"Maladie systémique rare d'origine génétique caractérisée par une neuropathie sensorimotrice et autonome progressive apparaissant à l'âge adulte et par une cardiomyopathie infiltrante. L'atteinte neurologique débute généralement par une perte sensorielle dans les membres et évolue vers une neuropathie motrice. La cardiomyopathie se manifeste par des irrégularités du rythme et une insuffisance cardiaques. Par ailleurs, la maladie se manifeste fréquemment par une série d'autres signes et symptômes cliniques dus à des atteintes oculaire, rénale, du système nerveux central et gastro-intestinale."},"de":{"name":"ATTR-Amyloidose, hereditäre","synonyms":["ATTRv-Amyloidose","Familiäre Transthyretin-bedingte Amyloidose","Hereditäre TTR-Amyloidose","Hereditäre TTR-Amyloidpolyneuropathie","Hereditäre Transthyretin-Amyloid-Polyneuropathie","TTR-bedingte Amyloidose, familiäre Form","hATTR"],"definition":"Eine seltene genetische Systemerkrankung, die sich durch eine im Erwachsenenalter einsetzende, fortschreitende sensomotorische und autonome Neuropathie und eine infiltrative Kardiomyopathie auszeichnet. Die neurologische Beteiligung beginnt in der Regel mit einem sensorischen Verlust in den Extremitäten und geht in eine motorische Neuropathie über. Die Kardiomyopathie äußert sich durch Rhythmusstörungen und Herzversagen. Die Krankheit zeigt außerdem häufig eine Reihe weiterer klinischer Anzeichen und Symptome, die auf eine Beteiligung der Augen, der Nieren, des zentralen Nervensystems und des Magen-Darm-Trakts zurückzuführen sind."},"es":{"name":"Amiloidosis ATTR hereditaria","synonyms":["Amiloidosis ATTRv","Amiloidosis familiar asociada a transtiretina","Amiloidosis familiar asociada al gen TTR","Amiloidosis hereditaria por TTR","Polineuropatía amiloide hereditaria por TTR","Polineuropatía amiloide hereditaria por transtiretina","hATTR"],"definition":"Es una enfermedad sistémica de origen genético y poco frecuente caracterizada por el inicio en la edad adulta de neuropatía sensitivomotora y autonómica progresiva y miocardiopatía infiltrativa. La afectación neurológica suele comenzar con pérdida sensitiva en las extremidades y progresa con neuropatía motora. La miocardiopatía se presenta con irregularidades del ritmo e insuficiencia cardíaca. La enfermedad también se manifiesta frecuentemente con una variedad de signos y síntomas clínicos adicionales debido a la afectación ocular, renal, del sistema nervioso central y digestiva asociada."},"it":{"name":"Amiloidosi ereditaria da ATTR","synonyms":["Amiloidosi ATTRv","Amiloidosi ereditaria da TTR","Amiloidosi familiare TTR-correlata","Amiloidosi familiare transtiretina-correlata","Polineuropatia amiloide ereditaria da TTR","Polineuropatia amiloide ereditaria da transtiretina","hATTR"]},"nl":{"name":"Hereditaire ATTR-amyloïdose","synonyms":["ATTRv-amyloïdose","Erfelijke ATTR-amyloïdose","Familiale TTR-gerelateerde amyloïdose","Familiale transthyretinegerelateerde amyloïdose","Hereditaire TTR-amyloïdose","Hereditaire TTR-amyloïdpolyneuropathie","Hereditaire transthyretine-amyloïdpolyneuropathie","hATTR"],"definition":"Een zeldzame genetische systemische aandoening, gekenmerkt door in de volwassenheid optredende progressieve sensorimotorische en autonome neuropathie en infiltratieve cardiomyopathie. Neurologische betrokkenheid start meestal met zintuiglijk verlies in extremiteiten en evolueert naar motorische neuropathie. Cardiomyopathie presenteert zich met hartritmestoornissen en hartfalen. De ziekte manifesteert zich vaak ook met een reeks bijkomende klinische verschijnselen en symptomen als gevolg van geassocieerde betrokkenheid van oog, nier, centraal zenuwstelsel en gastro-intestinaal stelsel."},"pt":{"name":"Amiloidose ATTR hereditária","synonyms":["Amiloidose ATTRv","Amiloidose familiar TTR-relacionada","Amiloidose familiar transtirretina-relacionada","Amiloidose hereditária TTR","Polineuropatia amiloide TTR hereditária","Polineuropatia amiloide transtirretina hereditária","hATTR"],"definition":"Doença genética sistémica rara caracterizada por neuropatia sensitivo-motora e autonómica progressiva de início na idade adulta e cardiomiopatia infiltrativa. O envolvimento neurológico geralmente inicia-se com perda sensorial nas extremidades e progride com neuropatia motora. A cardiomiopatia apresenta-se com anomalias do ritmo e insuficiência cardíaca. A doença também se manifesta frequentemente com uma variedade de sinais e sintomas clínicos adicionais devido ao envolvimento ocular, renal, do sistema nervoso central e gastrointestinal associado."},"pl":{"name":"Dziedziczna amyloidoza ATTR","synonyms":["Rodzinna amyloidoza zależna od transtyretyny","Rodzinna amyloidoza zależna od TTR"]},"cs":{"name":"Dědičná ATTR amyloidóza","synonyms":["Familiární TTR-vázaná amyloidóza","Familiární transthyretinová amyloidóza"]},"uk":{"name":"Спадковий амілоїдоз ATTR","synonyms":["Амілоїдоз ATTRv","Сімейний амілоїдоз, повязаний з транстиретином","Сімейний амілоїдоз, повязаний з TTR","hATTR","Спадкова транстиретинова амілоїдна полінейропатія","Спадкова амілоїдна полінейропатія TTR","Спадковий амілоїдоз TTR"],"definition":"A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement."},"zh":{"name":"遗传性ATTR淀粉样变性","synonyms":["家族性转甲状腺素蛋白相关淀粉样变性"]},"tr":{"name":"Kalıtsal ATTR amiloidoz","synonyms":["Ailesel TTR-ilişkili amiloidoz","Ailesel transtiretin-ilişkili amiloidoz"]}},"xrefs":[{"source":"OMIM","code":"105210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"807065795"},{"source":"MONDO","code":"0007100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7100","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679761","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":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]}],"children":[{"orpha":85451,"name":"ATTRV122I amyloidosis","type":"Clinical subtype"},{"orpha":85447,"name":"ATTRV30M amyloidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TTR","name":"transthyretin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18925456[PMID]","hgnc":"12405","ensembl":"ENSG00000118271","omim":"176300","loci":["18q12.1"],"via":{"orpha":85447,"name":"ATTRV30M amyloidosis"}},{"symbol":"TTR","name":"transthyretin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11752443[PMID]_25551524[PMID]","hgnc":"12405","ensembl":"ENSG00000118271","omim":"176300","loci":["18q12.1"],"via":{"orpha":85451,"name":"ATTRV122I amyloidosis"}}],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1481,"area":"Greece","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.153,"area":"Hungary","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1481,"area":"India","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1578,"area":"Ireland","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1428,"area":"Israel","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9046,"area":"Italy","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1473,"area":"Poland","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":19.9126,"area":"Portugal","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1464,"area":"Romania","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1485,"area":"Russian Federation","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1428,"area":"Slovenia","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1487,"area":"Spain","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1476,"area":"Sri Lanka","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5816,"area":"Sweden","status":"Validated","source":"29211930[PMID]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1445,"area":"Switzerland","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1489,"area":"Taiwan, Province of China","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0317,"area":"Turkey","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.149,"area":"United Kingdom","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0968,"area":"Japan","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1482,"area":"Korea, Republic of","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1666,"area":"Luxembourg","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1485,"area":"Malaysia","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.148,"area":"Mexico","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2662,"area":"Netherlands","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":0.1521,"area":"New Zealand","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2222,"area":"Worldwide","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1474,"area":"Argentina","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.147,"area":"Australia","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1511,"area":"Austria","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1484,"area":"Bangladesh","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1504,"area":"Belgium","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5694,"area":"Bulgaria","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1476,"area":"Canada","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1481,"area":"China","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.25,"area":"Cyprus","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1509,"area":"Czech Republic","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1403,"area":"Denmark","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.149,"area":"Ecuador","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1454,"area":"Finland","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7514,"area":"France","status":"Validated","source":"29211930[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1486,"area":"Germany","status":"Validated","source":"29211930[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-04-01","source":"41209119[PMID]_35114877[PMID]_20301373[PMID]_28840452[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031327","label":"Transthyretin cardiac amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025309","label":"Abnormal pupil shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011970","label":"Cerebral amyloid angiopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025077","label":"Decreased QRS voltage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031185","label":"Increased circulating NT-proBNP concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410174","label":"Increased circulating troponin T concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004610","label":"Lumbar spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100550","label":"Tendon rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031189","label":"Wrist drop","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Excluded (0%)","criteria":null}]}}