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Core Information
Disease Name
Hyperlipoproteinemia, Type I
Standard Disease Name
hyperlipoproteinemia, type i
MeSH Tree
No data
ICD-10
E78.3
Identifiers
DO ID
No data
MeSH ID
D008072
OMIM ID
238600
UMLS ID
C0023817
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.|MSH2017_2016_08_12:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.|CSP2006:rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.