Hyperlipoproteinemia Type III [hyperlipoproteinemie typ III]

topical
19
Terms

autozomálně recesivní hypercholesterolemie
autozomální recesivní hypercholesterolemie
dysbetalipoproteinemie
familiární dysbetalipoproteinemie
hyperlipoproteinémie typ III

 

Autosomal Recessive Hypercholesterolemia
Broad Beta Disease
Dysbetalipoproteinemia
Dysbetalipoproteinemia, Familial
Familial Dysbetalipoproteinemia
Familial Hypercholesterolemia with Hyperlipemia
Hypercholesterolemia, Autosomal Recessive
Hyperlipoproteinemia, Broad-beta
Hyperlipoproteinemia, Type III

Persistent link   https://www.medvik.cz/link/D006952
Definition

An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.

DUI
D006952 MeSH Browser
CUI
M0010834
Previous indexing
Hyperlipidemia/familial & genetic (1966-1979)
History note
1980; for AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA use HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA 2022
Public note
1980; for AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA see HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA 2022

C Diseases
C16.320.565.398.224 Barth Syndrome 6
C16.320.565.398.465 Hyperlipoproteinemia Type I 21
C16.320.565.398.481 Hyperlipoproteinemia Type II 455
C16.320.565.398.483 Hyperlipoproteinemia Type III 19
C16.320.565.398.487 Hyperlipoproteinemia Type IV 14
C16.320.565.398.493 Hyperlipoproteinemia Type V 6
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome 30
C18.452 Metabolic Diseases 1 196
C18.452.584.500 Dyslipidemias 1 634
C18.452.584.500.500 Hyperlipidemias 1 238
C18.452.584.500.500.644 Hyperlipoproteinemias 771
C18.452.584.500.500.644.237 Hyperlipoproteinemia Type I 21
C18.452.584.500.500.644.475 Hyperlipoproteinemia Type II 455
C18.452.584.500.500.644.485 Hyperlipoproteinemia Type III 19
C18.452.584.500.500.644.490 Hyperlipoproteinemia Type IV 14
C18.452.584.500.500.644.495 Hyperlipoproteinemia Type V 6
C18.452.584.563.224 Barth Syndrome 6
C18.452.584.563.465 Hyperlipoproteinemia Type I 21
C18.452.584.563.481 Hyperlipoproteinemia Type II 455
C18.452.584.563.483 Hyperlipoproteinemia Type III 19
C18.452.584.563.487 Hyperlipoproteinemia Type IV 14
C18.452.584.563.493 Hyperlipoproteinemia Type V 6
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.798 Lipodystrophy, Familial Partial 1
C18.452.584.563.824 Shwachman-Diamond Syndrome 2
C18.452.584.563.850 Smith-Lemli-Opitz Syndrome 30
C18.452.648.398.224 Barth Syndrome 6
C18.452.648.398.465 Hyperlipoproteinemia Type I 21
C18.452.648.398.481 Hyperlipoproteinemia Type II 455
C18.452.648.398.483 Hyperlipoproteinemia Type III 19
C18.452.648.398.487 Hyperlipoproteinemia Type IV 14
C18.452.648.398.493 Hyperlipoproteinemia Type V 6
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome 30