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LPL

lipoprotein lipase

HCNC Approved Symbol
LPL (HGNC:6677)
Genomic Coordinates
8:19,939,253 - 19,967,259 (8p21.3)
Synonyms
LIPD
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
[High density lipoprotein cholesterol level QTL 11]
238600AR
Combined hyperlipidemia, familial
144250AD
Lipoprotein lipase deficiency
238600AR

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the LPL gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypertriglyceridemia
 7 (100.0%)
Hyperlipidemia
 2 (28.6%)
Hyperchylomicronemia
 2 (28.6%)
Lipemia retinalis
 
1 (14.3%)
Premature birth
 
1 (14.3%)