Trait: familial lipoprotein lipase deficiency

Trait Information
Identifier MONDO_0009387
Description Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.
Trait category
Other trait
Synonyms 15 synonyms
  • Burger-Grutz syndrome
  • LPL deficiency
  • endogenous hypertriglyceridaemia
  • familial chylomicronemia syndrome
  • familial fat-induced hypertriglyceridemia
  • familial hyperchylomicronemia
  • familial lipoprotein lipase deficiency (disorder) [ambiguous]
  • familial lipoprotein lipase deficiency with type I phenotype
  • high density lipoprotein cholesterol level QTL 11
  • hyperchylomicronemia
  • hyperlipoproteinemia type I
  • hyperlipoproteinemia, type 1
  • hyperlipoproteinemia, type I
  • lipoprotein lipase deficiency, familial
  • type I hyperlipoproteinemia

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018806
(TPMI_272.12_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hyperglyceridemia familial lipoprotein lipase deficiency 26
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018806/ScoringFiles/PGS018806.txt.gz
PGS018807
(TPMI_272.12_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hyperglyceridemia familial lipoprotein lipase deficiency 939,771
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018807/ScoringFiles/PGS018807.txt.gz
PGS018808
(TPMI_272.12_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hyperglyceridemia familial lipoprotein lipase deficiency 509,844
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018808/ScoringFiles/PGS018808.txt.gz
PGS018809
(TPMI_272.12_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hyperglyceridemia familial lipoprotein lipase deficiency 983,736
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018809/ScoringFiles/PGS018809.txt.gz
PGS018810
(TPMI_272.12_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hyperglyceridemia familial lipoprotein lipase deficiency 26,876
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018810/ScoringFiles/PGS018810.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM036988 PGS018806
(TPMI_272.12_Lassosum2)
 PSS012694|
East Asian Ancestry|
12,025 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hyperglyceridemia — AUROC: 0.75986 R²: 0.03891 sex, age, array, PCs 1-10 —
PPM036989 PGS018807
(TPMI_272.12_LDpred2)
 PSS012693|
East Asian Ancestry|
12,025 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hyperglyceridemia — AUROC: 0.77316 R²: 0.04188 sex, age, array, PCs 1-10 —
PPM036990 PGS018808
(TPMI_272.12_MegaPRS)
 PSS012695|
East Asian Ancestry|
12,025 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hyperglyceridemia — AUROC: 0.73637 R²: 0.03131 sex, age, array, PCs 1-10 —
PPM036991 PGS018809
(TPMI_272.12_PRS-CS)
 PSS012696|
East Asian Ancestry|
12,025 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hyperglyceridemia — AUROC: 0.77433 R²: 0.04135 sex, age, array, PCs 1-10 —
PPM036992 PGS018810
(TPMI_272.12_SBayesR)
 PSS012697|
East Asian Ancestry|
12,025 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hyperglyceridemia — AUROC: 0.76801 R²: 0.04021 sex, age, array, PCs 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012693 272.1,E78.1 —
[
  • 148 cases
  • , 11,877 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012694 272.1,E78.1 —
[
  • 148 cases
  • , 11,877 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012695 272.1,E78.1 —
[
  • 148 cases
  • , 11,877 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012696 272.1,E78.1 —
[
  • 148 cases
  • , 11,877 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012697 272.1,E78.1 —
[
  • 148 cases
  • , 11,877 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —