{"orpha":275761,"name":"Lysosomal acid lipase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LAL deficiency","LALD"],"definition":"A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275761/","orphanet_url":"https://www.orpha.net/en/disease/detail/275761","names":{"fr":{"name":"Déficit en lipase acide lysosomale","synonyms":["Déficit en LAL"],"definition":"Maladie métabolique rare et progressive du foie due à une carence ou une absence complète de lipase acide lysosomale, caractérisée par une dyslipidémie et une accumulation massive de lipides entraînant une hépatomégalie et un dysfonctionnement du foie, une splénomégalie et une athérosclérose accélérée."},"de":{"name":"Lysosomale saure Lipase-Mangel","synonyms":["LAL-Mangel"],"definition":"Eine seltene progrediente Stoffwechselerkrankung der Leber, die auf einem ausgeprägten bis vollständigen Mangel an lysosomaler saurer Lipase beruht und durch Dyslipidämie und massive Lipidakkumulation gekennzeichnet ist, was zu Hepatomegalie und Leberfunktionsstörungen, Splenomegalie und beschleunigter Atherosklerose führt."},"es":{"name":"Deficiencia de lipasa ácida lisosomal","synonyms":["Deficiencia de LAL"],"definition":"Es una enfermedad hepática metabólica progresiva y poco frecuente debida a una marcada a completa deficiencia de lipasa ácida lisosomal y caracterizada por dislipemia y acúmulo masivo de lípidos que conduce a hepatomegalia y disfunción hepática, esplenomegalia y aterosclerosis acelerada."},"it":{"name":"Deficit della lipasi acida lisosomiale","synonyms":["Deficit di LAL"],"definition":"Si tratta di una malattia epatica metabolica progressiva rara, causata da un deficit (marcato o completo) della lipasi acida lisosomiale. È caratterizzata da dislipidemia e da un notevole accumulo di lipidi che esita nell'epatomegalia, nella disfunzione epatica, nella splenomegalia e nell'aterosclerosi rapida."},"nl":{"name":"Deficiëntie van lysosomale zure lipase","synonyms":["LAL-deficiëntie"],"definition":"Een zeldzame, progressieve metabole leverziekte als gevolg van aanzienlijke tot volledige deficiëntie van lysosomale zure lipase, gekarakteriseerd door dyslipidemie en massale accumulatie van lipiden, wat leidt tot hepatomegalie en leverdisfunctie, splenomegalie, en versnelde atherosclerose."},"pt":{"name":"Deficiência de lipase ácida lisossomal"},"pl":{"name":"Niedobór kwaśnej lipazy lizosomalnej","synonyms":["Niedobór LAL"]},"cs":{"name":"Deficit lyzozomální kyselé lipázy","synonyms":["Deficit LAL"]},"uk":{"name":"Дефіцит лізосомальної кислої ліпази","synonyms":["Дефіцит LAL","LALD"],"definition":"A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis."},"zh":{"name":"溶酶体酸性脂肪酶缺乏症","synonyms":["LAL缺乏症"],"definition":"一种罕见的进行性代谢性肝病，由溶酶体酸脂肪酶的显著至完全缺乏所致，以血脂异常和大量脂质积聚为特征，导致肝肿大和肝功能障碍、脾肿大和加速的动脉粥样硬化。"},"tr":{"name":"Lizozomal asit lipaz eksikliği","synonyms":["LAL eksikliği"]}},"xrefs":[{"source":"OMIM","code":"278000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"381622932"},{"source":"MONDO","code":"800449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574740","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12097","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077267","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79204,"name":"Lipid storage disease","classifications":[150,156,233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":181437,"name":"Rare syndromic dyslipidemia","classifications":[150,156,193]}],"children":[{"orpha":75234,"name":"Cholesteryl ester storage disease","type":"Clinical subtype"},{"orpha":75233,"name":"Wolman disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"LIPA","name":"lipase A, lysosomal acid type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22227072[PMID]_26225414[PMID]","hgnc":"6617","ensembl":"ENSG00000107798","omim":"613497","loci":["10q23.31"],"via":{"orpha":75233,"name":"Wolman disease"}},{"symbol":"LIPA","name":"lipase A, lysosomal acid type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22227072[PMID]_26225414[PMID]","hgnc":"6617","ensembl":"ENSG00000107798","omim":"613497","loci":["10q23.31"],"via":{"orpha":75234,"name":"Cholesteryl ester storage disease"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-16","source":"3565483[PMID]_5787090[PMID]_3740103[PMID]_6478639[PMID]_5642714[PMID]_1516222[PMID]_142699714[PMID]_14008104[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006583","label":"Fatal liver failure in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001414","label":"Microvesicular hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001922","label":"Vacuolated lymphocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004416","label":"Precocious atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012598","label":"Abnormal urine potassium concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004333","label":"Bone-marrow foam cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012605","label":"Hypernatriuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}