{"orpha":85451,"name":"ATTRV122I amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ATTRV122I-related amyloidosis"],"definition":"A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85451/","orphanet_url":"https://www.orpha.net/en/disease/detail/85451","names":{"fr":{"name":"Amylose ATTRV122I","synonyms":["Amylose associée à TTRV122I"],"definition":"Amylose systémique héréditaire rare liée à la transthyrétine (TTR) avec atteinte principalement cardiaque due à une infiltration anormale du myocarde par des protéines amyloïdes."},"de":{"name":"ATTRV122I-Amyloidose","definition":"Eine seltene hereditäre Form der ATTR-Amyloidose, die durch eine vorherrschende Herzbeteiligung gekennzeichnet ist, die aus der myokardialen Ablagerung von fehlgefaltetem TTR als Amyloid resultiert; sie kann auch von einer sensomotorischen/autonomen Polyneuropathie begleitet sein, wenn auch weniger häufig als bei anderen TTR-Varianten."},"es":{"name":"Amiloidosis ATTRV122I","synonyms":["Amiloidosis asociada a ATTRV122I"],"definition":"Es una una forma hereditaria poco frecuente de amiloidosis ATTR caracterizada por afectación cardíaca predominante como resultado del depósito de TTR incorrectamente plegada como amiloide en el miocardio; también puede acompañarse de polineuropatía sensitivomotora/autonómica, aunque con menor frecuencia que en otras variantes de TTR."},"it":{"name":"Amiloidosi ATTRV122I","synonyms":["Amiloidosi ATTRV122I-correlata"]},"nl":{"name":"ATTRV122I-amyloïdose","synonyms":["ATTRV122I-gerelateerde amyloïdose"],"definition":"Een zeldzame erfelijke ATTR-amyloïdose, gekenmerkt door hoofdzakelijk betrokkenheid van hart als gevolg van depositie in myocard van verkeerdelijk gevouwen TTR als amyloïd; het kan ook gepaard gaan met sensorimotorische/autonome polyneuropathie, maar dit komt minder vaak voor dan bij andere TTR-varianten."},"pt":{"name":"Amiloidose ATTRV122I","synonyms":["Amiloidose ATTRV122I-relacionada"],"definition":"Amiloidose ATTR hereditária rara caracterizada por envolvimento predominantemente cardíaco resultante da deposição miocárdica de TTR mal dobrada como amiloide; também pode ser acompanhada por polineuropatia sensitivo-motora/autonómica, embora com menor frequência do que noutras variantes da TTR."},"pl":{"name":"Amyloidoza ATTRV122I","synonyms":["Amyloidoza sercowa zależna od TTR","Amyloidoza zależna od ATTRV122I","Kardiomiopatia amyloidowa zależna od TTR","Kardiomiopatia ATTR","Rodzinna kardiomiopatia amyloidowa zalezna od transtyretyny","Transtyretynowa kardiomiopatia amyloidowa"]},"cs":{"name":"ATTRV122I amyloidóza","synonyms":["ATTR kardiomyopatie","ATTRV122I-vázaná amyloidóza","TTR-vázaná amyloidní kardiomyopatie","TTR-vázaná kardiální amyloidóza","Transthyretin amyloidní kardiopatie","Transthyretin-vázaná familiární amyloidní kardiomyopatie"]},"uk":{"name":"Амілоїдоз ATTRV122I","synonyms":["Амілоїдоз, повязаний з ATTRV122I"],"definition":"A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein."},"zh":{"name":"V122I突变型转甲状腺素蛋白型淀粉样变性","synonyms":["转甲状腺素蛋白相关性家族淀粉样变性心肌病"]},"tr":{"name":"ATTRV122I amiloidoz","synonyms":["ATTR kardiyomiyopati","ATTRV122I-ilişkili amiloidoz","TTR-ilişkili kardiyak amiloidoz","Transtiretin amiloid kardiyopati","TTR-ilişkili amiloid kardiyomiyopati","Transtiretin-ilişkili ailesel amiloid kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"105210","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1449168185"},{"source":"MONDO","code":"0019441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275067","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":271861,"name":"Hereditary ATTR amyloidosis","classifications":[146,156,189,196,233]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"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":"31171094[PMID]_20301373[PMID]","terms":[{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001692","label":"Atrial arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031185","label":"Increased circulating NT-proBNP concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410174","label":"Increased circulating troponin T concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025028","label":"Abnormality of enteric nervous system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100550","label":"Tendon rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}