{"orpha":470,"name":"Lysinuric protein intolerance","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperdibasic aminoaciduria","LPI"],"definition":"A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-470/","orphanet_url":"https://www.orpha.net/en/disease/detail/470","names":{"fr":{"name":"Intolérance aux protéines dibasiques avec lysinurie","synonyms":["Aminoacidurie hyperdibasique","ILPD","LPI"],"definition":"Trouble rare de l'absorption et du transport des acides aminés caractérisé par un trouble secondaire du cycle de l'urée associé à un retard de croissance staturo-pondérale, à une hépatosplénomégalie et à un large éventail de manifestations cliniques comprenant une atteinte hématologique (syndrome d'activation macrophagique ou lymphohistiocytose hémophagocytaire, HLH), immunitaire, digestive, rénale, pulmonaire et/ou osseuse."},"de":{"name":"Lysinurische Proteinintoleranz","synonyms":["Aminoazidurie, hyperdibasische, Typ 2","LPI"],"definition":"Eine seltene Störung der Aminosäureabsorption und des Aminosäurentransports, die durch eine sekundäre Harnstoffzyklusstörung mit Gedeihstörung, Hepatosplenomegalie und einem breiten Spektrum klinischer Manifestationen gekennzeichnet ist, einschließlich hämatologischer (makrophagisches Aktivierungssyndrom oder hämophagozytische Lymphohistiozytose, HLH), immunologischer, verdauungsbedingter, renaler, pulmonaler und/oder knöcherner Beteiligung."},"es":{"name":"Lisinuria con intolerancia a proteínas","synonyms":["Aminoaciduria hiperdibásica tipo 2"],"definition":"Es un trastorno poco frecuente de la absorción y el transporte de aminoácidos caracterizado por un trastorno secundario del ciclo de la urea con fallo de medro, hepatoesplenomegalia y una amplia gama de manifestaciones clínicas que incluyen afectación hematológica (síndrome de activación macrofágica o linfohistiocitosis hemofagocítica, LHH), inmunológica, digestiva, renal y pulmonar y/u ósea."},"it":{"name":"Intolleranza alle proteine con lisinuria","synonyms":["Aminoaciduria bibasica, tipo 2","IPL"]},"nl":{"name":"Lysinurische proteïne-intolerantie","synonyms":["Hyperdibasische aminoacidurie","LPI","Lysine-eiwitintolerantie","Lysinurische eiwitintolerantie"],"definition":"Een zeldzame aandoening van absorptie en transport van aminozuren, gekenmerkt door een secundaire stoornis van de ureumcyclus met niet-gedijen, hepatosplenomegalie, en een brede waaier van klinische manifestaties waaronder betrokkenheid van hematologisch systeem (macrofaagactivatiesyndroom of hemofagocytaire lymfohistiocytose, HLH), immuunsysteem, spijsverteringsstelsel, nieren, longen en/of botten."},"pt":{"name":"Intolerância à proteína lisinúrica","synonyms":["Aminoacidúria hiperdibásica","LPI"],"definition":"Doença rara de absorção e transporte de aminoácidos caracterizado por um distúrbio secundário do ciclo da ureia com défice de crescimento, hepatoesplenomegalia e uma ampla gama de manifestações clínicas, incluindo hematológicas (síndrome de ativação macrofágica ou linfo-histiocitose hemofagocítica, HLH), imunológicas, digestivas, renais, pulmonares e/ou ósseas."},"pl":{"name":"Lizynuryczna nietolerancja białka","synonyms":["Aminoacyduria dwuzasadowa typu 2","LPI"]},"cs":{"name":"Intolerance bílkovin s lysinurií","synonyms":["Hyperdibazická aminoacidurie, typ 2","LPI"]},"uk":{"name":"Непереносимість лізинуричного білка","synonyms":["Гіпердігідроаміноацидурія","LPI"],"definition":"A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement."},"zh":{"name":"赖氨酸尿性蛋白耐受不良","synonyms":["高双碱基氨基酸尿症"]},"tr":{"name":"Lizinürik protein intoleransı","synonyms":["LPI","Hiperdibazik aminoasidüri"]}},"xrefs":[{"source":"OMIM","code":"222700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"972050440"},{"source":"MONDO","code":"0009109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268647","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058300","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1032,"name":"OBSOLETE: Hyperdibasic aminoaciduria type 1","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":664482,"name":"Primary hemophagocytic lymphohistiocytosis without hypopigmentation","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"SLC7A7","name":"solute carrier family 7 member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301535[PMID]","hgnc":"11065","ensembl":"ENSG00000155465","omim":"603593","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Italy","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Finland","status":"Validated","source":"15050971[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.75,"area":"Japan","status":"Validated","source":"10980538[PMID]"},{"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":"2024-03-15","source":"20301535[PMID]_20301535[PMID]_28057010[PMID]_8163273[PMID]_7204568[PMID]_6076999[PMID]_4158034[PMID]","terms":[{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012278","label":"Abnormality of serine metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003268","label":"Argininuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011966","label":"Elevated plasma citrulline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003217","label":"Hyperglutaminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003297","label":"Hyperlysinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008358","label":"Hyperprolinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006517","label":"Intraalveolar phospholipid accumulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010701","label":"Abnormal immunoglobulin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005368","label":"Abnormality of humoral immunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012280","label":"Hepatic amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011424","label":"Increased serum zinc","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005548","label":"Megakaryocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012578","label":"Membranous nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003532","label":"Ornithinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003218","label":"Oroticaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030760","label":"Renal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very rare (<4-1%)","criteria":null}]}}