| Entry |
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| Name |
Hepatic lipase deficiency |
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| Description |
Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease.
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| Category |
Endocrine and metabolic disease
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H02329 Hepatic lipase deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C80 Hyperlipoproteinaemia
H02329 Hepatic lipase deficiency
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| Pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G |
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| Title |
Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. |
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| Journal |
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| Reference |
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| Authors |
Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B |
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| Title |
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. |
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| Journal |
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| LinkDB |
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