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Familial type 3 hyperlipoproteinemia

MedGen UID:
9364
•Concept ID:
C0020479
•
Disease or Syndrome
Synonyms: Apolipoprotein e, deficiency or defect of; Broad beta disease; Broad-betalipoproteinemia; Dysbetalipoproteinemia; Dysbetalipoproteinemia due to defect in apolipoprotein e-d; Familial dysbetalipoproteinemia; Familial hyperbeta- and prebetalipoproteinemia; Familial hypercholesterolemia with hyperlipemia; Floating-betalipoproteinemia; Hyperlipemia with familial hypercholesterolemic xanthomatosis; Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Remnant removal disease
SNOMED CT: Familial type 3 hyperlipoproteinemia (398796005); Familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia (398796005); Remnant hyperlipidemia (398796005); Remnant hyperlipoproteinemia (398796005); Dysbetalipoproteinemia (398796005); Primary dysbetalipoproteinemia (398796005); Carbohydrate induced hyperlipemia (398796005); Fredrickson type III hyperlipoproteinemia (398796005); Familial hypercholesterolemia with hyperlipemia (398796005); Floating beta disease (398796005); Broad beta disease (398796005); Apolipoprotein E deficiency (398796005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
 
Gene (location): APOE (19q13.32)
 
Monarch Initiative: MONDO:0018473
OMIM®: 617347
Orphanet: ORPHA412

Definition

Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE (summary by Blum, 2016). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial type 3 hyperlipoproteinemia in Orphanet.

Professional guidelines

PubMed

Treatment of chylomicronemia.
Navarro Hermoso A, Valdivielso P
Clin Investig Arterioscler 2021 May;33 Suppl 2:75-79. doi: 10.1016/j.arteri.2021.01.004. PMID: 34006359
Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment.
Gallo A, Béliard S, D'Erasmo L, Bruckert E
Curr Atheroscler Rep 2020 Aug 27;22(11):63. doi: 10.1007/s11883-020-00885-1. PMID: 32852651
Roundtable discussion: Familial chylomicronemia syndrome: Diagnosis and management.
Brown WV, Goldberg I, Duell B, Gaudet D
J Clin Lipidol 2018 Mar-Apr;12(2):254-263. Epub 2018 Mar 5 doi: 10.1016/j.jacl.2018.02.018. PMID: 29534878

Recent clinical studies

Etiology

Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows.
Schneider WJ, Kovanen PT, Brown MS, Goldstein JL, Utermann G, Weber W, Havel RJ, Kotite L, Kane JP, Innerarity TL, Mahley RW
J Clin Invest 1981 Oct;68(4):1075-85. doi: 10.1172/jci110330. PMID: 6270194Free PMC Article

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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