{"orpha":14,"name":"Abetalipoproteinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bassen-Kornzweig disease"],"definition":"A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-14/","orphanet_url":"https://www.orpha.net/en/disease/detail/14","names":{"fr":{"name":"Abêtalipoprotéinémie","synonyms":["Maladie de Bassen-Kornzweig"],"definition":"L'abêtalipoprotéinémie / hypobêtalipoprotéinémie sévère précoce est une forme sévère d'hypobêtalipoprotéinémie familiale (HBLF) caractérisée par une baisse permanente, sous le seuil du 5ème percentile de la population, du taux d'apolipoprotéine B (ApoB) et de cholestérol LDL et par un retard de croissance, une malabsorption, une hépatomégalie et des manifestations neurologiques ou neuromusculaires."},"de":{"name":"Abetalipoproteinämie","synonyms":["Bassen-Kornzweig-Krankheit","Bassen-Kornzweig-Syndrom"],"definition":"Die Abetalipoproteinämie oder homozygote Familiäre Hypobetalipoproteinämie (ABL/HoFHBL) ist eine schwere Form der Familiären Hypobetalipoproteinämie und gekennzeichnet durch dauerhaft niedrige Spiegel (unterhalb der 5. Perzentile) von Apolipoprotein B und LDL-Cholesterin, durch verzögertes Wachstum, Malabsorption, Hepatomegalie und neurologische und neuromuskuläre Störungen."},"es":{"name":"Abetalipoproteinemia","synonyms":["Enfermedad de Bassen-Kornzweig"],"definition":"Es una forma grave de hipobetalipoproteinemia familiar (HBLF) caracterizada por niveles bajos permanentes (por debajo del quinto percentil) de apolipoproteína B (ApoB) y de colesterol LDL, y por un retraso en el crecimiento, malabsorción, hepatomegalia y manifestaciones neuromusculares y neurológicas."},"it":{"name":"Abetalipoproteinemia","synonyms":["Malattia di Bassen-Kornzweig"]},"nl":{"name":"Abètalipoproteïnemie","synonyms":["Ziekte van Bassen-Kornzweig"],"definition":"Een ernstige, familiale hypobètalipoproteïnemie, gekarakteriseerd door permanent lage gehaltes (onder het vijfde percentiel) van apolipoproteïne B en LDL-cholesterol, en door groeiachterstand, malabsorptie, hepatomegalie, en neurologische en neuromusculaire manifestaties."},"pt":{"name":"Abetalipoproteinemia","synonyms":["Acantocitose","Doença de Bassen-Kornzweig"],"definition":"Hipobetalipoproteinemia familiar grave caracterizada por níveis permanentemente baixos (abaixo do percentil 5) de apolipoproteína B e colesterol LDL e por atraso no crescimento, má absorção, hepatomegalia e manifestações neurológicas e neuromusculares."},"pl":{"name":"Abetalipoproteinemia","synonyms":["Choroba Bassena i Kornzweiga","Homozygotyczna rodzinna hipobetalipoproteinemia"]},"cs":{"name":"Abetalipoproteinemie","synonyms":["Homozygotní familiární hypobetalipoproteinémie","Bassenův-Kornzweigův syndrom","Bassen-Kornzweigův syndrom"]},"uk":{"name":"Абеталіпопротеїнемія","synonyms":["Хвороба Бассена-Корнцвейга","Гомозиготна сімейна гіпобеталіпопротеїнемія"],"definition":"A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations."},"zh":{"name":"无β脂蛋白血症","synonyms":["纯合子性家族性β-脂蛋白过少血症"]},"tr":{"name":"Abetalipoproteinemi","synonyms":["Bassen-Kornzweig hastalığı","Homozigot ailesel hipobetalipoproteinemi"]}},"xrefs":[{"source":"OMIM","code":"200100","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C81.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1117838449"},{"source":"MONDO","code":"0008692","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0000744","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083851","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":98366,"name":"Constitutional hemolytic anemia due to acanthocytosis","classifications":[156,194]},{"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]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTTP","name":"microsomal triglyceride transfer protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22378282[PMID]_24288038[PMID]_23556456[PMID]","hgnc":"7467","ensembl":"ENSG00000138823","omim":"157147","loci":["4q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30358967[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"30358967[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-24","source":"30358967[PMID]_30398540[PMID]_24288038[PMID]_21827896[PMID]","terms":[{"hpo":"HP:0025201","label":"Abnormal circulating apolipoprotein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001927","label":"Acanthocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003563","label":"Decreased LDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003146","label":"Hypocholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012153","label":"Hypotriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004905","label":"Low levels of vitamin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025022","label":"Decreased erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null}]}}