Descriptors Found: 1
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Descriptor English:   Hyperlipoproteinemia Type III 
Descriptor Spanish:   Hiperlipoproteinemia Tipo III 
Descriptor Portuguese:   Hiperlipoproteinemia Tipo III 
Synonyms English:   Broad Beta Disease
Broad-beta Hyperlipoproteinemia
Dysbetalipoproteinemia, Familial
Familial Dysbetalipoproteinemia
Familial Hypercholesterolemia with Hyperlipemia
Hyperlipoproteinemia, Broad beta
Hyperlipoproteinemia, Broad-beta
Hyperlipoproteinemia, Type III
Hyperlipoproteinemias, Type III
Type III Hyperlipoproteinemia
Type III Hyperlipoproteinemias  
Tree Number:   C16.320.565.398.483
Definition English:   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. 
History Note English:   80 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   7133 
Unique Identifier:   D006952 

Occurrence in VHL: