{"orpha":85447,"name":"ATTRV30M amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ATTRV30M-related amyloidosis","Hereditary ATTRV30M-related amyloidosis"],"definition":"A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85447/","orphanet_url":"https://www.orpha.net/en/disease/detail/85447","names":{"fr":{"name":"Amylose ATTRV30M","synonyms":["Amylose associée à TTRV30M","Amylose héréditaire associée à TTRV30M"],"definition":"Amylose ATTR héréditaire rare (hATTR) caractérisée par une polyneuropathie axonale sensorimotrice progressive et longueur dépendante et/ou une neuropathie autonome à l'âge adulte. Une atteinte rénale, oculaire et cardiaque est également fréquente. Deux phénotypes différents associés à cette mutation ont été décrits : la forme précoce de V30M et la forme tardive de V30M, qui diffèrent suivant l'âge d'apparition (<50 ans ou >50 ans, respectivement), les signes cliniques, les caractéristiques histopathologiques, le taux de progression de la maladie et la réponse au traitement."},"de":{"name":"ATTRV30M-Amyloidose","synonyms":["Hereditäre ATTRV30M-assoziierte Amyloidose"],"definition":"Eine hereditäre Form der ATTR-Amyloidose (hATTR), die durch eine progressive, längenabhängige sensomotorische axonale Polyneuropathie und/oder autonome Neuropathie im Erwachsenenalter gekennzeichnet ist. Häufig treten auch Nieren-, Augen- und Herzbeteiligungen auf. Zwei verschiedene Phänotypen werden mit dieser Mutation in Verbindung gebracht, nämlich V30M im Frühstadium und V30M im Spätstadium, die sich in Bezug auf das Alter bei Beginn (<50 Jahre bzw. >50 Jahre), das Erscheinungsbild, die histopathologischen Merkmale, die Geschwindigkeit des Krankheitsverlaufs und das Ansprechen auf die Therapie unterscheiden."},"es":{"name":"Amiloidosis ATTRV30M","synonyms":["Amiloidosis asociada a ATTRV30M","Amiloidosis asociada a ATTRV30M hereditaria"],"definition":"Es una forma hereditaria poco frecuente de amiloidosis ATTR (ATTRh) caracterizada por una polineuropatía axonal sensitivomotora progresiva y dependiente de la longitud y/o neuropatía autonómica en la edad adulta. También es frecuente la afectación renal, ocular y cardíaca. Se han descrito dos fenotipos diferentes asociados a esta mutación: el V30M de inicio precoz y el V30M de inicio tardío, que difieren en cuanto a la edad de inicio (<50 años o >50 años, respectivamente), características de presentación, hallazgos histopatológicos, tasa de progresión de la enfermedad y respuesta terapéutica."},"it":{"name":"Amiloidosi ATTRV30M","synonyms":["Amiloidosi ATTRV30M-correlata","Amiloidosi ATTRV30M-correlata ereditaria"]},"nl":{"name":"ATTRV30M-amyloïdose","synonyms":["ATTRV30M-gerelateerde amyloïdose","Hereditaire ATTRV30M-gerelateerde amyloïdose"],"definition":"Een zeldzame hereditaire ATTR-amyloïdose (hATTR), gekenmerkt door progressieve, lengte-afhankelijke sensorimotorische axonale polyneuropathie en/of autonome neuropathie in de volwassenheid. Betrokkenheid van nier, oog en hart komt ook vaak voor. Er zijn twee verschillende fenotypes geassocieerd met deze mutatie, namelijk vroeg optredende V30M en laat optredende V30M, die verschillen op vlak van aanvangsleeftijd (respectievelijk onder en boven 50 jaar), presenterende kenmerken, histopathologische kenmerken, mate van progressie van de ziekte, en respons op therapie."},"pt":{"name":"Amiloidose ATTRV30M","synonyms":["Amiloidose ATTRV30M-relacionada","Amiloidose ATTRV30M-relacionada hereditária"],"definition":"Amiloidose hereditária ATTR (hATTR) rara caracterizada por polineuropatia axonal sensitivo-motora progressiva e dependente do comprimento e/ou neuropatia autonómica na idade adulta. Ocorre frequentemente envolvimento renal, ocular e cardíaco. Dois fenótipos diferentes estão associados a esta mutação, nomeadamente V30M de início precoce e V30M de início tardio, que diferem em termos de idade de início (<50 anos ou >50 anos, respetivamente), manifestações clínicas na apresentação, características histopatológicas, velocidade de progressão da doença e resposta à terapêutica."},"pl":{"name":"Amyloidoza ATTRV30M","synonyms":["Amyloidoza zależna od ATTRV30M","Neuropatia amyloidowa TTR","Rodzinna polineuropatia amyloidowa typu I (typ portugalsko-szwedzko-japoński)","Transtyretynowa neuropatia amyloidowa","Transtyretynowa polineuropatia amyloidowa"]},"cs":{"name":"ATTRV30M amyloidóza","synonyms":["ATTRV30M-vázaná amyloidóza","Familiární amyloidní polyneuropatie, typ I (portugalsko-švédsko-japonský typ)","TTR amyloidní neuropatie","Transthyretin amyloidní neuropatie","Transthyretin amyloidní polyneuropatie"]},"uk":{"name":"Амілоїдоз ATTRV30M","synonyms":["Амілоїдоз, повязаний з ATTRV30M","Спадковий амілоїдоз, повязаний з ATTRV30M"],"definition":"A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy."},"zh":{"name":"V30M突变型转甲状腺素蛋白型淀粉样变性","synonyms":["家族性淀粉样多神经病，Portuguese-Swedish-Japanese型"]},"tr":{"name":"ATTRV30M amiloidoz","synonyms":["TTR amiloid nöropati","ATTRV30M-ilişkili amiloidoz","Transtiretin amiloid nöropati","Transtiretin amiloid polinöropati","Ailesel amiloid polinöropati tip I","Ailesel amiloid polinöropati, Portekiz-İsveç-Japon tipi"]}},"xrefs":[{"source":"OMIM","code":"105210","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"115430","qualifier":"NTBT","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":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1736273667"},{"source":"MONDO","code":"0100552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":271861,"name":"Hereditary ATTR amyloidosis","classifications":[146,156,189,196,233]},{"orpha":207021,"name":"Rare hereditary systemic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":90.0,"area":"Portugal","status":"Validated","source":"8825887[PMID]_24572009[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Japan","status":"Validated","source":"[EXPERT]_23425518[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.75,"area":"Sweden","status":"Not yet validated","source":"8406517[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":97.5,"area":"Sweden","status":"Not yet validated","source":"8406517[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.69,"area":"Cyprus","status":"Validated","source":"19291512[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Cyprus","status":"Validated","source":"19291512[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Spain","status":"Validated","source":"3210815[PMID]_12855135[PMID]_24572009[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-06","source":"20301373[PMID]_29249054[PMID]","terms":[{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","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:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}