{"orpha":1414,"name":"Cholestasis-lymphedema syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aagenaes syndrome"],"definition":"Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1414/","orphanet_url":"https://www.orpha.net/en/disease/detail/1414","names":{"fr":{"name":"Syndrome de cholestase-lymphoedème","synonyms":["Syndrome d'Aagenaes"],"definition":"Le syndrome de cholestase-lymphoedème est une maladie génétique rare caractérisée par une cholestase intrahépatique néonatale régressant souvent et devenant intermittente avec l'âge, et un lymphoedème chronique sévère affectant principalement les membres inférieurs. Les patients présentent souvent une malabsorption des lipides, ce qui conduit à un retard de croissance staturo-pondérale, un déficit en vitamines liposolubles avec des hémorragies, un rachitisme et une neuropathie. Dans 25% des cas, une cirrhose apparaît au cours de l'enfance ou plus tardivement."},"de":{"name":"Cholestase-Lymphödem-Syndrom","synonyms":["Aagenaes-Syndrom"],"definition":"Das Cholestase-Lymphödem-Syndrom (CLS) ist gekennzeichnet durch ein schweres und chronisches Lymphödem, das hauptsächlich die unteren Gliedmaßen betrifft und durch eine schwere Cholestase des Neugeborenen, die meist im Laufe der Kindheit abnimmt und dann nur noch episodisch auftritt. Patienten zeigen häufig eine Fettmalabsorption, die zu Gedeihstörung führt, Mangel der fettlöslichen Vitamine mit Blutungen, Rachitis und Neuropathie. In 25% der Fälle tritt eine Zirrhose in der Kindheit oder im späteren Leben auf."},"es":{"name":"Síndrome de colestasis-linfedema","synonyms":["Síndrome de Aagenaes"],"definition":"El síndrome de colestasis - linfedema es un trastorno genético raro caracterizado por colestasis intrahepática neonatal, que a menudo se atenúa y se hace intermitente con la edad, y linfedema crónico grave que afecta principalmente a las extremidades inferiores. A menudo, los pacientes presentan malabsorción de las grasas que conduce a un retraso en el desarrollo y deficiencia de vitaminas liposolubles con sangrado, raquitismo y neuropatía. En el 25% de los casos, se produce cirrosis que se presenta durante la infancia o con posterioridad."},"it":{"name":"Sindrome colestasi-linfedema","synonyms":["Sindrome di Aegenaes"],"definition":"La sindrome colestasi-linfedema è una malattia genetica rara caratterizzata da colestasi intraepatica neonatale, che spesso diventa meno grave ed episodica con l'età, e da linfedema grave cronico, che interessa soprattutto gli arti inferiori. I pazienti spesso presentano malassorbimento dei grassi, che causa ritardo della crescita, deficit di vitamina liposolubile con emorragie, rachitismo e neuropatia. Nel 25% dei casi, la cirrosi insorge durante o dopo l'infanzia."},"nl":{"name":"Cholestase - lymfoedeem-syndroom","synonyms":["Syndroom van Aagenaes"],"definition":"Cholestase - lymfoedeem-syndroom is een zeldzame genetische stoornis gekarakteriseerd door neonatale intrahepatische cholestase, die vaak vermindert en intermitterend wordt met de leeftijd, en ernstig chronisch lymfoedeem, dat voornamelijk de onderste ledematen treft. Patiënten vertonen vaak malabsorptie van vet, met als gevolg groeiachterstand, deficiëntie van vetoplosbare vitaminen met bloeding, rachitis, en neuropathie. In 25% van de gevallen komt cirrose voor tijdens de kindertijd of op latere leeftijd."},"pt":{"name":"Síndrome colestase-linfedema","synonyms":["Síndrome de Aagenaes"]},"pl":{"name":"Zespół cholestazy i obrzęku limfatycznego","synonyms":["Zespół Aagenaesa"]},"cs":{"name":"Hereditární cholestáza s lymfedémy","synonyms":["Aagenaesův syndrom"]},"uk":{"name":"Синдром холестазу-лімфедеми","synonyms":["Синдром Аагенаеса"],"definition":"Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life."},"zh":{"name":"胆汁淤积-淋巴水肿综合征","synonyms":["Aagenaes综合征"]},"tr":{"name":"Kolestaz-lenfödem sendromu","synonyms":["Aagenaes sendromu"]}},"xrefs":[{"source":"OMIM","code":"214900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB99.6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1087517390"},{"source":"MONDO","code":"0008966","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535330","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268314","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"370","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":289825,"name":"Late-onset primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":156601,"name":"Rare genetic hepatic disease","classifications":[156]},{"orpha":57146,"name":"Rare hepatic disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"25039919[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25039919[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003110","label":"Abnormality of urine homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011985","label":"Acholic stools","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001080","label":"Biliary tract abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006566","label":"Neonatal cholestatic liver disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null}]}}