{"orpha":444490,"name":"Familial chylomicronemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444490/","orphanet_url":"https://www.orpha.net/en/disease/detail/444490","names":{"fr":{"name":"Syndrome de chylomicronémie familiale","definition":"Hyperlipidémie génétique rare caractérisée par une augmentation excessive des taux de triglycérides plasmatiques due à l'accumulation de chylomicrons, qui se manifeste sur le plan biochimique par une hypertriglycéridémie sévère. Sur le plan clinique, la maladie se manifeste par des épisodes récurrents de pancréatite aiguë, des douleurs abdominales, des nausées, une fatigue, des diarrhées, une hépatosplénomégalie, des xanthomes éruptifs, une lipémie rétinienne et un retard de croissance. Les enfants peuvent être asymptomatiques et l'apparition des symptômes peut être plus tardive. La maladie n'est pas associée à une athérosclérose sévère..."},"de":{"name":"Chylomikronämie-Syndrom, familiäres","definition":"Eine seltene genetische Hyperlipidämie, die durch einen übermäßigen Anstieg der Plasmatriglyceridwerte aufgrund der Anhäufung von Chylomikronen gekennzeichnet ist und sich biochemisch als schwere Hypertriglyceridämie manifestiert. Zu den klinischen Symptomen gehören wiederkehrende Episoden akuter Pankreatitis, Bauchschmerzen, Übelkeit, Müdigkeit, Durchfall, Hepatosplenomegalie, eruptive Xanthome, Lipämie retinalis und Gedeihstörung. Kinder können asymptomatisch sein und die Symptome können auch erst später auftreten. Die Erkrankung ist nicht mit schwerer Atherosklerose verbunden."},"es":{"name":"Síndrome de quilomicronemia familiar","definition":"Es una hiperlipidemia genética poco frecuente caracterizada por un aumento excesivo de los niveles de triglicéridos en plasma debido al acúmulo de quilomicrones, que se manifiesta bioquímicamente como una hipertrigliceridemia grave. Las manifestaciones clínicas incluyen episodios recurrentes de pancreatitis aguda, dolor abdominal, náuseas, fatiga, diarrea, hepatoesplenomegalia, xantomas eruptivos, lipemia retiniana y retraso del crecimiento. Los pacientes pediátricos pueden permanecer asintomáticos con un inicio más tardío de los síntomas. El trastorno no está asociado a aterosclerosis grave."},"it":{"name":"Chilomicronemia familiare","definition":"Si tratta di un'iperlipidemia genetica rara caratterizzata da un marcato aumento dei livelli dei trigliceridi nel plasma, secondario all'accumulo di chilomicroni. I segni clinici comprendono episodi ricorrenti di pancreatite acuta grave, il dolore addominale, la nausea, l'affaticamento, la diarrea, la costipazione, l'epatosplenomegalia, gli xantomi eruttivi e il ritardo della crescita. Spesso i bambini sono asintomatici. La malattia non si associa ad aterosclerosi grave."},"nl":{"name":"Familiale chylomicronemie-syndroom","definition":"Een zeldzame genetische hyperlipidemie, gekenmerkt door excessieve toename van triglyceridegehaltes in plasma door accumulatie van chylomicronen, die zich biochemisch manifesteert als ernstige hypertriglyceridemie. Klinische manifestaties zijn onder meer recidiverende episodes van acute pancreatitis, abdominale pijn, misselijkheid, vermoeidheid, diarree, hepatosplenomegalie, eruptieve xanthomen, lipemia retinalis, en niet-gedijen. Kinderen kunnen asymptomatisch zijn met latere aanvang van symptomen. De aandoening is niet geassocieerd met ernstige atherosclerose."},"pt":{"name":"Hiperquilomicronemia familiar","definition":"Hiperlipidemia genética rara caracterizada por aumento excessivo dos níveis plasmáticos de triglicéridos devido à acumulação de quilomícrons, que se manifesta bioquimicamente como hipertrigliceridemia grave. As manifestações clínicas incluem episódios recorrentes de pancreatite aguda, dor abdominal, náusea, fadiga, diarreia, hepatoesplenomegalia, xantomas eruptivos, lipemia retinalis e atraso de crescimento. As crianças podem ser assintomáticas com início tardio dos sintomas. A doença não se associa a aterosclerose grave."},"pl":{"name":"Rodzinny zespół chylomikronemii"},"cs":{"name":"Familiární chylomikronémie"},"uk":{"name":"Синдром сімейної хіломікронемії","definition":"A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis."},"zh":{"name":"家族性乳糜微粒血症综合征"},"tr":{"name":"ailesel şilomikronemi sendromu"}},"xrefs":[{"source":"OMIM","code":"118830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"144650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"145750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"207750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"238600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615947","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C80.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5442313","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6414","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":411,"name":"Hyperlipoproteinemia type 1","status":"inactive"},{"type":"Referred to","orpha":70470,"name":"OBSOLETE: Hyperlipoproteinemia type 5","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181422,"name":"Rare hyperlipidemia","classifications":[150,156,193]}],"children":[{"orpha":535458,"name":"Familial GPIHBP1 deficiency","type":"Etiological subtype"},{"orpha":530849,"name":"Familial apolipoprotein A5 deficiency","type":"Etiological subtype"},{"orpha":309020,"name":"Familial apolipoprotein C-II deficiency","type":"Etiological subtype"},{"orpha":535453,"name":"Familial lipase maturation factor 1 deficiency","type":"Etiological subtype"},{"orpha":309015,"name":"Familial lipoprotein lipase deficiency","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"APOC2","name":"apolipoprotein C2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24589565[PMID]","hgnc":"609","ensembl":"ENSG00000234906","omim":"608083","loci":["19q13.32"],"via":{"orpha":309020,"name":"Familial apolipoprotein C-II deficiency"}},{"symbol":"LPL","name":"lipoprotein lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24589565[PMID]","hgnc":"6677","ensembl":"ENSG00000175445","omim":"609708","loci":["8p21.3"],"via":{"orpha":309015,"name":"Familial lipoprotein lipase deficiency"}},{"symbol":"APOA5","name":"apolipoprotein A5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"17288","ensembl":"ENSG00000110243","omim":"606368","loci":["11q23.3"],"via":{"orpha":530849,"name":"Familial apolipoprotein A5 deficiency"}},{"symbol":"GPIHBP1","name":"glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"24945","ensembl":"ENSG00000277494","omim":"612757","loci":["8q24.3"],"via":{"orpha":535458,"name":"Familial GPIHBP1 deficiency"}},{"symbol":"LMF1","name":"lipase maturation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25732519[PMID]_29980054[PMID]","hgnc":"14154","ensembl":"ENSG00000103227","omim":"611761","loci":["16p13.3"],"via":{"orpha":535453,"name":"Familial lipase maturation factor 1 deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"United States","status":"Validated","source":"15758547[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.97,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-27","source":"27998715[PMID]_2648155[PMID]_16174715[PMID]_3887163[PMID]_20301485[PMID]_26892137[PMID]_12387965[PMID]_10342813[PMID]_9091793[PMID]_26825936[PMID]","terms":[{"hpo":"HP:0012238","label":"Hyperchylomicronemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001735","label":"Acute pancreatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000660","label":"Lipemia retinalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100027","label":"Recurrent pancreatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001013","label":"Eruptive xanthomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009789","label":"Perianal abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004416","label":"Precocious atherosclerosis","frequency":"Excluded (0%)","criteria":null}]}}