Familial type 3 hyperlipoproteinemia

Synonyms

Apolipoprotein e, deficiency or defect of; BROAD-BETALIPOPROTEINEMIA; Broad beta disease; 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

Modes of inheritance

Autosomal dominant 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.

(Orphanet)
Non-Mendelian inheritance

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.

(Orphanet)