Lipase Deficiency, Combined (CLD)

Alias:
Familial Lipase Maturation Factor 1 Deficiency
Familial Lmf1 Deficiency
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency
Combined Lipase Deficiency
Lipase Deficiency Combined
Lpl and Htgl Deficiency
Lpl and Hl Deficiency
Cld
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipase Deficiency, Combined, also known as familial lipase maturation factor 1 deficiency, is related to hypertriglyceridemia 1 and hypolipoproteinemia. An important gene associated with Lipase Deficiency, Combined is LMF1 (Lipase Maturation Factor 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Plasma lipoprotein assembly, remodeling, and clearance. Affiliated tissues include liver and endothelial, and related phenotypes are type ii diabetes mellitus and hypertriglyceridemia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
11
58
6

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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