Hyperlipoproteinemia, Type I (HLPP1)

Alias:
Familial Chylomicronemia Syndrome
Lipoprotein Lipase Deficiency
Hyperlipemia, Idiopathic, Burger-Grutz Type
Hyperlipemia, Essential Familial
Hyperchylomicronemia, Familial
Hyperlipoproteinemia, Type Ia
Chylomicronemia, Familial
Lipase D Deficiency
Lipd Deficiency
Lpl Deficiency
High Density Lipoprotein Cholesterol Level Qtl 11
Familial Hyperchylomicronemia Syndrome
Hyperlipoproteinemia Type I
Hyperlipoproteinemia 1
Lipoprotein Lipase
Hlpp1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperlipoproteinemia, Type I, also known as familial chylomicronemia syndrome, is related to apolipoprotein c-ii deficiency and lipase deficiency, combined. An important gene associated with Hyperlipoproteinemia, Type I 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 liver, and related phenotypes are hypertriglyceridemia and hyperlipidemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/1000000
17
155
102

Medical Symptom

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

Gene & Mutation

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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
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