Familial Lipoprotein Lipase Deficiency

Alias:
Hyperlipoproteinemia Type I
Familial Lpl Deficiency
Familial Hyperlipoproteinemia Type I
Familial Hyperchylomicronemia
Hyperchylomicronemia
Lpl Deficiency
Familial Fat-Induced Hypertriglyceridemia
Fredrickson Type I Hyperlipoproteinemia
Lipoprotein Lipase Deficiency, Familial
Familial Hyperlipo-Proteinemia Type 1
Hypercholesterinaemic Xanthomatosis
Familial Chylomicronemia Syndrome
Endogenous Hypertriglyceridaemia
Hyperlipoproteinemia Type Ia
Fredrickson Type I Lipaemia
Mixed Hyperglyceridemia
Burger-Grutz Syndrome
Lipase D Deficiency
Lipd Deficiency
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Lipoprotein Lipase Deficiency, also known as hyperlipoproteinemia type i, is related to familial apolipoprotein c-ii deficiency and lipase deficiency, combined. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include pancreas and spleen, and related phenotypes are Increased free cholesterol and Increased LDL uptake
Related ID:
MESH:D008072

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Infant
1-9/1000000
15
150
111

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top