{"orpha":480531,"name":"Congenital portosystemic shunt","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital portosystemic venous fistula"],"definition":"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480531/","orphanet_url":"https://www.orpha.net/en/disease/detail/480531","names":{"fr":{"name":"Fistule portosystémique congénitale","definition":"Anomalie congénitale rare des veines de gros calibre caractérisée par une communication anormale entre une ou plusieurs veines du système porte et du système cave, entraînant un détournement complet ou partiel du sang portal du foie vers la circulation systémique. Les manifestations cliniques comprennent une atrophie du foie, une hypergalactosémie sans déficit enzymatique en uridine diphosphate, une hyperammoniémie, une encéphalopathie (entraînant des difficultés d'apprentissage, une fatigabilité extrême et des crises d'épilepsie), une hypertension pulmonaire, une hypoxémie due au syndrome hépatopulmonaire et des tumeurs bénignes ou malignes."},"de":{"name":"Portosystemischer Shunt, kongenitaler","synonyms":["Portosystemische Venenfistel, kongenitale"]},"es":{"name":"Shunt portosistémico congénito","synonyms":["Fístula venosa portosistémica congénita"],"definition":"El shunt portosistémico congénito, es una anomalía de las grandes venas, congénita y poco frecuente, caracterizada por una comunicación anómala entre una o más venas de los sistemas portal y caval, resultando en una derivación completa o parcial de la sangre portal desde el hígado a la circulación sistémica. Las manifestaciones clínicas incluyen atrofia hepática, hipergalactosemia sin deficiencia enzimática de uridina difosfato, hiperamonemia, encefalopatía (que da lugar a dificultades del aprendizaje, fatiga extrema y convulsiones), hipertensión pulmonar, hipoxemia por síndrome hepatopulmonar y tumores benignos o malignos."},"it":{"name":"Shunt portosistemico congenito","synonyms":["Fistola venosa porto-sistemica congenita"],"definition":"Lo shunt portosistemico congenito è un'anomalia congenita rara dei grandi vasi, caratterizzata da una comunicazione anomala tra una o più vene del sistema portale e cavale, con conseguente deviazione completa o parziale del sangue portale dal fegato verso la circolazione sistemica. I segni clinici comprendono l'atrofia epatica, l'ipergalattosemia in assenza di deficit dell'enzima uridina-difosfato, l'iperammoniemia, l'encefalopatia (che esita nelle difficoltà di apprendimento, nell'affaticamento estremo e nelle crisi epilettiche), l'ipertensione polmonare, l'ipossiemia secondaria alla sindrome epato-polmonare e i tumori benigni o maligni."},"nl":{"name":"Congenitale portosystemische shunt","synonyms":["Congenitale portosystemische veneuze fistel"],"definition":"Congenitale portosystemische shunt is een zeldzame, congenitale anomalie van grote aders, gekarakteriseerd door een abnormale communicatie tussen een of meer aders van het portale en het cavale systeem, wat leidt tot volledige of gedeeltelijke onttrekking van het portale bloed van de lever naar de systemische circulatie. Klinische manifestaties zijn onder meer atrofie van lever, hypergalactosemie zonder enzymatische deficiëntie van uridinedifosfaat, hyperammoniëmie, encefalopathie (met als gevolg leerstoornissen, extreme moeheid en insulten), pulmonale hypertensie, hypoxemie van hepatopulmonaal syndroom, en goed- of kwaadaardige tumoren."},"pt":{"name":"Shunt portosistémico congénito","synonyms":["Fístula congenita venosa portosistémica"]},"pl":{"name":"Wrodzone zespolenie wrotno-układowe","synonyms":["Wrodzona przetoka wrotno-układowa"]},"cs":{"name":"Vrozený portosystémový shunt","synonyms":["Congenital portosystemic venous fistula","Vrozená portosystémová žilní píštěl"]},"uk":{"name":"Вроджений портосистемний шунт","synonyms":["Вроджена портосистемна венозна нориця"],"definition":"Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours."},"zh":{"name":"先天性门体静脉分流","synonyms":["先天性门体静脉瘘"],"definition":"先天性门-体静脉循环交通是一种罕见的先天性大静脉畸形，其特点是门静脉和腔静脉系统的一条或多条静脉之间的交通异常，导致门静脉血液完全或部分从肝脏分流到全身循环。临床表现包括肝萎缩、高半乳糖血症而无尿苷二磷酸酶缺乏症、高氨血症、脑病（导致学习障碍、极度易疲劳和癫痫发作）、肺动脉高压、肝肺综合征引起的低氧血症和良性或恶性肿瘤。"},"tr":{"name":"Doğumsal portosistemik şant","synonyms":["Doğumsal portosistemik venöz fistül"]}},"xrefs":[{"source":"ICD-10","code":"Q26.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB98.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"352607287"},{"source":"MONDO","code":"0018811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1290495","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3091,"name":"Congenital systemic veins anomaly","classifications":[147,148,198]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101938,"name":"Rare vascular liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Worldwide","status":"Validated","source":"29243189[PMID]_ORPHANET"}],"phenotypes":null}