{"orpha":69663,"name":"Low phospholipid-associated cholelithiasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ABCB4-related cholelithiasis","LPAC"],"definition":"A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69663/","orphanet_url":"https://www.orpha.net/en/disease/detail/69663","names":{"fr":{"name":"Lithiase biliaire à faible niveau de phospholipides","synonyms":["Cholélithiase par mutation du gène ABCB4","Lithiase biliaire primitive par déficit en phospholipides","Syndrome LPAC"],"definition":"Maladie hépatique génétique rare caractérisée par une faible concentration en phospholipides biliaires et une cholélithiase symptomatique et récurrente qui se développe avant l'âge de 40&nbsp;ans."},"de":{"name":"Cholelithiasis mit niedrigen Phospholipid-Spiegeln","synonyms":["Cholelithiasis mit assoziierter ABCB4-Genmutation","LPAC"]},"es":{"name":"Colelitiasis asociada a fosfolípidos bajos","synonyms":["Colelitiasis asociada a ABCB4","Síndrome LPAC"],"definition":"Es una enfermedad hepática genética poco común caracterizada por una baja concentración de fosfolípidos biliares con colelitiasis sintomática y recurrente que se desarrolla antes de los 40 años."},"it":{"name":"Litiasi biliare con livelli bassi di fosfolipidi","synonyms":["Colelitiasi da mutazione del gene ABCB4"],"definition":"La litiasi biliare associata a livelli bassi di fosfolipidi è un'epatopatia genetica rara, caratterizzata da calcoli biliari di colesterolo e calcoli intraepatici, che si sviluppano prima dei 40 anni."},"nl":{"name":"Cholelithiase geassocieerd met laag gehalte aan fosfolipiden","synonyms":["ABCB4-gerelateerde cholelithiase","LPAC"],"definition":"Een zeldzame genetische aandoening van lever, gekenmerkt door lage concentratie van fosfolipiden in gal, met symptomatische en recidiverende cholelithiasis die ontwikkelt voor de leeftijd van 40 jaar."},"pt":{"name":"Colelitíase associada a níveis baixos de fosfolípidos","synonyms":["Colelitíase associada a ABCB4"]},"pl":{"name":"Kamica żółciowa związana z niskim poziomem fosfolipidów","synonyms":["LPAC","Kamica żółciowa z mutacją genu ABCB4","Kamica żółciowa związana z mutacją genu ABCB4"],"definition":"Rzadka, genetycznie uwarunkowana choroba wątroby, która charakteryzuje się niskim stężeniem fosfolipidów w żółci z objawową i nawracającą kamicą żółciową, rozwijającą się przed 40 rokiem życia."},"cs":{"name":"Nízkofosfolipidová cholelitiáza","synonyms":["Cholelitiáza asociovaná s mutacemi genu ABCB4","Cholelitiáza s mutacemi genu ABCB4"]},"uk":{"name":"Низький рівень фосфоліпід-асоційованої жовчнокамяної хвороби","synonyms":["Жовчнокамяна хвороба, повязана з ABCB4","LPAC"],"definition":"A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years."},"zh":{"name":"低磷脂相关性胆石病","synonyms":["ABCB4相关性胆石症"]},"tr":{"name":"Düşük fosfolipid -ilişkili kolelitiazis","synonyms":["LPAC","ABCB4-ilişkili kolelitiazis"]}},"xrefs":[{"source":"OMIM","code":"600803","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DC11.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1261516421"},{"source":"MONDO","code":"0010939","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2609268","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]}],"children":[],"genes":[{"symbol":"ABCB4","name":"ATP binding cassette subfamily B member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17562004[PMID]","hgnc":"45","ensembl":"ENSG00000005471","omim":"171060","loci":["7q21.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"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":"2021-09-15","source":"30922600[PMID]_33554096[PMID]","terms":[{"hpo":"HP:0011848","label":"Abdominal colic","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005230","label":"Biliary tract obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Very rare (<4-1%)","criteria":null}]}}