{"orpha":397606,"name":"PrP systemic amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic diarrhea with HSAN","Chronic diarrhea with hereditary sensory and autonomic neuropathy","Prion protein systemic amyloidosis"],"definition":"A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397606/","orphanet_url":"https://www.orpha.net/en/disease/detail/397606","names":{"fr":{"name":"Amylose systémique PrP","synonyms":["Amylose systémique à protéine prion","Diarrhée chronique avec HSAN","Diarrhée chronique avec NHSA","Diarrhée chronique avec neuropathie héréditaire sensitive et autonomique"],"definition":"Maladie neurologique rare, autosomique dominante, due à des mutations de troncature du gène de la protéine prion <i>PRNP</i> (20p13) entraînant un dépôt de la protéine prion amyloïde. Les manifestations cliniques rapportées sont une diarrhée, des nausées, une insuffisance autonome (aréflexie, faiblesse), une vessie neurogène et des infections urinaires."},"de":{"name":"PrP-Amyloidose, systemische","synonyms":["Chronische Diarrhoe mit HSAN","Chronische Diarrhoe mit hereditärer sensorischer und autonomer Neuropathie","Prion-Protein-Amyloidose"],"definition":"Eine extrem seltene autosomal-dominante neurologische Störung, die auf trunkierende Mutationen des Prion-Protein-Gens <i>PRNP</i> (20p13) zurückzuführen ist und zur Ablagerung von Prion-Protein-Amyloid führt. Die Erkrankung beginnt in der Regel im vierten Lebensjahrzehnt und zu den berichteten klinischen Symptomen gehören Durchfall, Übelkeit, autonome Störungen (Areflexie, Schwäche), neurogene Blasen- und Harnwegsinfektionen."},"es":{"name":"Amiloidosis sistémica PrP","synonyms":["Amiloidosis sistémica de proteína priónica","Diarrea crónica con HSAN","Diarrea crónica con NSAH","Diarrea crónica con neuropatía sensitiva autonómica hereditaria"],"definition":"Es un trastorno neurológico autosómico dominante poco frecuente causado por mutaciones truncantes del gen de la proteína priónica <i>PRNP</i> (20p13), que resultan en la deposición de proteína amiloide priónica. Suele debutar en la cuarta década de vida y las manifestaciones clínicas incluyen diarrea, náuseas, insuficiencia autónoma (arreflexia, debilidad), vejiga neurogénica e infecciones urinarias."},"it":{"name":"Amiloidosi sistemica PrP","synonyms":["Diarrea cronica con HSAN","Diarrea cronica con neuropatia autonomica e sensoriale ereditaria"],"definition":"L'amiloidosi sistemica da proteina prionica (PrP), nota in precedenza come diarrea cronica con neuropatia ereditaria sensoriale e del sistema autonomo, è una malattia molto rara a trasmissione autosomica dominante, descritta in tre famiglie britanniche, una giapponese e una italiana (circa 16 casi in totale). L'esordio di solito è nella quarta decade di vita e il decorso dura circa 20 anni. I segni clinici comprendono la diarrea, la nausea, i deficit del sistema nervoso autonomo (areflessia, debolezza), la vescica neurogena e le infezioni urinarie. La malattia è causata da alcune mutazioni troncanti nel gene della proteina prionica PRNP (20p13), che comportano il deposito di amiloide, una proteina prionica."},"nl":{"name":"PrP systemische amyloïdose","synonyms":["Chronische diarree met HSAN","Chronische diarree met erfelijke sensorische en autonome neuropathie","Prionproteïne systemische amyloïdose"],"definition":"Een zeldzame autosomaal dominante neurologische aandoening door truncerende mutaties van het gen voor prionproteïne (<i>PRNP</i>; 20p13), wat leidt tot amyloïde depositie van prionproteïne. De ziekte treedt meestal op i het vierde levensdecennium en gerapporteerde klinische manifestaties zijn onder meer diarree, misselijkheid, autonoom falen (areflexie, zwakte), neurogene blaas en infecties van urinewegen."},"pt":{"name":"Amiloidose sistémica PrP","synonyms":["Amiloidose sistémica de proteína priónica","Diarreia crónica com HSAN","Diarreia crónica com neuropatia sensitiva e autonómica hereditária"]},"pl":{"name":"Przewlekła biegunka z dziedziczną neuropatią czuciową i autonomiczną","synonyms":["Przewlekła biegunka z HSAN"]},"cs":{"name":"PrP systémová amyloidóza","synonyms":["Prionovo proteinová systémová amyloidóza","Chronický průjem s HSAN","Chronický průjem s dědičnou senzorickou a autonomní neuropatií"]},"uk":{"name":"Системний амілоїдоз PrP","synonyms":["Хронічна діарея зі спадковою сенсорною та вегетативною нейропатією","Хронічна діарея з HSAN","Пріонний білковий системний амілоїдоз"],"definition":"A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections."},"zh":{"name":"PrP系统性淀粉样变","synonyms":["慢性腹泻伴遗传性感觉和自主神经病"],"definition":"朊病毒蛋白(PrP)系统性淀粉样变性(PrP)是一种极为罕见的常染色体显性遗传性疾病，已在3个英国家庭、1个日本家庭和1个意大利家庭中被报告(总共约16例)，曾被称为慢性腹泻伴遗传性感觉和自主神经病变。发病通常在生命的第四个十年，病程持续约20年。已报道的临床表现包括腹泻、恶心、自主神经衰竭(反射障碍、虚弱)、神经源性膀胱和泌尿系感染。本病是由朊病毒蛋白基因PRNP(20p13)的截断突变导致朊病毒蛋白淀粉样蛋白沉积引起的。"},"tr":{"name":"PrP sistemik amiloidoz","synonyms":["HSAN ile seyreden kronik diyare","Prion protein sistemik amiloidoz","Kalıtsal duyusal ve otonom nöropati ile seyreden kronik diyare"]}},"xrefs":[{"source":"ICD-10","code":"E85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140474,"name":"Autosomal dominant hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":280400,"name":"Inherited human prion disease","classifications":[156,181]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24224623[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"25623792[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25623792[PMID]"}],"phenotypes":null}