01
APOA5
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
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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.
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Related Targets
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