{"orpha":2882,"name":"Sitosterolemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sisterolemia","Phytosterolemia"],"definition":"Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2882/","orphanet_url":"https://www.orpha.net/en/disease/detail/2882","names":{"fr":{"name":"Sitostérolémie","synonyms":["Phytostérolémie"],"definition":"Maladie rare de stockage des stérols à transmission autosomique récessive caractérisée par l'accumulation de phytostérols dans le sang et les tissus. Sur le plan clinique, la maladie se manifeste par des xanthomes, des arthralgies et une athérosclérose prématurée, et sur le plan hématologique, par une anémie hémolytique avec stomatocytose et macrothrombocytopénie. La maladie est causée par des mutations homozygotes ou hétérozygotes composites dans les gènes <i>ABCG5</i> (2p21) et <i>ABCG8</i> (2p21)."},"de":{"name":"Sitosterolämie","synonyms":["Phytosterolämie"],"definition":"Die Sitosterolämie ist eine erbliche Krankheit mit physiologisch unkontrollierter Cholesterinabsorption und Speicherung von Sterolen vor allem pflanzlicher Herkunft (daher das Synonym <u>Phyto</u>sterolämie)."},"es":{"name":"Sitosterolemia","synonyms":["Fitosterolemia"],"definition":"Es una enfermedad autosómica recesiva poco frecuente de almacenamiento de esteroles, caracterizada por el acúmulo de fitoesteroles en sangre y tejidos. Los hallazgos clínicos incluyen xantomas, artralgias y aterosclerosis prematura. Las manifestaciones hematológicas incluyen anemia hemolítica con estomatocitosis y macrotrombocitopenia. La enfermedad está causada por mutaciones en homocigosis o heterocigosis compuestas en los genes <i>ABCG5<i> (2p21) y <i>ABCG8</i> (2p21)."},"it":{"name":"Sitosterolemia","synonyms":["Fitosterolemia","Sisterolemia"],"definition":"La sitosterolemia è una malattia rara autosomica recessiva da deposito di steroli, caratterizzata dall'accumulo di fitosteroli nel sangue e nei tessuti. I segni clinici comprendono gli xantomi, l'artralgia e l'aterosclerosi prematura, mentre i segni ematologici comprendono l'anemia emolitica con stomatocitosi e la macrotrombocitopenia. La malattia è causata da mutazioni omozigoti o eterozigoti composte nei geni ABCG5 (2p21) e ABCG8 (2p21)."},"nl":{"name":"Sitosterolemie","synonyms":["Fytosterolemie"],"definition":"Sitosterolemie is een zeldzame autosomaal recessieve sterolstapelingsziekte die gekarakteriseerd wordt door de accumulatie van fytosterolen in het bloed en weefsels. Klinische manifestaties zijn onder meer xanthomen, artralgie en premature atherosclerose. Hematologische manifestaties zijn onder meer hemolytische anemie met stomatocytose en macrotrombocytopenie. De ziekte wordt veroorzaakt door homozygote of samengesteld heterozygote mutaties in de genen <i>ABCG5</i> (2p21) en <i>ABCG8</i> (2p21)."},"pt":{"name":"Fitoesterolemia","synonyms":["Sitoesterolemia"],"definition":"A sitosterolemia é uma patologia genética causada pela desregulação da absorção do colesterol e acumulação de esteróis, nomeadamente os de origem vegetal (daí o sinónimo fitosterolemia)."},"pl":{"name":"Sitosterolemia","synonyms":["Fitosterolemia","Ksantomatoza z sitosterolemią","Fitosterolemia"]},"cs":{"name":"Sitosterolemie","synonyms":["Fytosterolemie","Xantomatóza se sitosterolemii"]},"uk":{"name":"Ситостеролемія","synonyms":["Фітостеролемія"],"definition":"Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes."},"zh":{"name":"谷固醇血症","synonyms":["植物固醇血症"]},"tr":{"name":"Sitosterolemi","synonyms":["Fitosterolemi"]}},"xrefs":[{"source":"OMIM","code":"210250","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618666","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"808135226"},{"source":"MONDO","code":"0008863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537345","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342907","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7653","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":101022,"name":"Mediterranean macrothrombocytopenia","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":181437,"name":"Rare syndromic dyslipidemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"ABCG5","name":"ATP binding cassette subfamily G member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11138003[PMID]_23556150[PMID]","hgnc":"13886","ensembl":"ENSG00000138075","omim":"605459","loci":["2p21"]},{"symbol":"ABCG8","name":"ATP binding cassette subfamily G member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11099417[PMID]_23556150[PMID]","hgnc":"13887","ensembl":"ENSG00000143921","omim":"605460","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"18441155[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18441155[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-13","source":"27809447[PMID]_23556150[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033341","label":"Elevated circulating sitosterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001902","label":"Giant platelets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040185","label":"Macrothrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004446","label":"Stomatocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005059","label":"Arthralgia/arthritis","frequency":"Occasional (29-5%)","criteria":null}]}}