{"orpha":71,"name":"Chylomicron retention disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anderson disease","CMRD","CRD"],"definition":"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71/","orphanet_url":"https://www.orpha.net/en/disease/detail/71","names":{"fr":{"name":"Maladie de rétention des chylomicrons","synonyms":["CMRD","CRD","MRC","Maladie d'Anderson"],"definition":"La maladie de rétention des chylomicrons (MRC) est un type d'hypocholestérolémie familiale caractérisée par une malnutrition, un retard de croissance, un déficit en vitamine E et des complications hépatiques, neurologiques et ophtalmologiques."},"de":{"name":"Chylomikronen-Retentions-Krankheit","synonyms":["Anderson-Krankheit","CMRD","CRD"],"definition":"Die Chylomikronen-Retentions-Krankheit (CRD) ist eine Form von familiärer Hypocholesterolämie und gekennzeichnet durch schlechten Ernährungsstatus, Gedeihstörung, verzögertes Wachstum, Vitamin E-Mangel und Komplikationen vonseiten der Leber, des Nervensystems und der Augen."},"es":{"name":"Enfermedad de retención de quilomicrones","synonyms":["CMRD","CRD","Enfermedad de Anderson"],"definition":"La enfermedad de retención de quilomicrones (ERC) es un tipo de hipocolesterolemia familiar caracterizada por malnutrición, retraso de desarrollo y crecimiento, déficit de vitamina E y complicaciones oftalmológicas, neurológicas y hepáticas."},"it":{"name":"Malattia da ritenzione dei chilomicroni","synonyms":["CMRD","CRD","Malattia di Anderson"]},"nl":{"name":"Chylomicronretentieziekte","synonyms":["CMRD","CRD","Ziekte van Anderson"],"definition":"Chylomicronretentieziekte (CRD) is een type van familiale hypocholesterolemie, gekarakteriseerd door malnutritie, groeifalen, vitamine E-deficiëntie, en hepatische, neurologische en oftalmologische complicaties."},"pt":{"name":"Doença de retenção dos quilomicrons","definition":"A doença de retenção de quilomícrons (CRD) é um tipo de hipocolesterolemia familiar caracterizada por má-nutrição, atraso de crescimento estaturo-ponderal, deficiência de vitamina E e complicações hepáticas, neurológicas e oftalmológicas."},"pl":{"name":"Zespół chylomikronemii","synonyms":["Choroba Andersona","CMRD","CRD"]},"cs":{"name":"Choroba z retence chylomikronů","synonyms":["Andersenova nemoc","CMRD","CRD"]},"uk":{"name":"Хвороба затримки хіломікронів","synonyms":["Хвороба Андерсона","CMRD","CRD"],"definition":"Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications."},"zh":{"name":"乳糜微粒潴留病","synonyms":["Anderson病"]},"tr":{"name":"Şilomikron tutulumu hastalığı","synonyms":["CRD","CMRD","Anderson hastalığı"]}},"xrefs":[{"source":"OMIM","code":"246700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C81.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1447416932"},{"source":"MONDO","code":"0009528","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795956","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":363306,"name":"Genetic intestinal disease due to fat malabsorption","classifications":[156]},{"orpha":31154,"name":"Hypobetalipoproteinemia","classifications":[150,156,193]},{"orpha":104005,"name":"Intestinal disease due to fat malabsorption","classifications":[152]}],"children":[],"genes":[{"symbol":"SAR1B","name":"secretion associated Ras related GTPase 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21235735[PMID]_18786134[PMID]","hgnc":"10535","ensembl":"ENSG00000152700","omim":"607690","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-09","source":"20920215[PMID]_24560855[PMID]_2426307[PMID]","terms":[{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003146","label":"Hypocholesterolemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100508","label":"Abnormality of vitamin metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006565","label":"Increased hepatocellular lipid droplets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001927","label":"Acanthocytosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Excluded (0%)","criteria":null}]}}