KEGG   DISEASE: Hepatic lipase deficiency
Entry
H02329                      Disease                                

Name
Hepatic lipase deficiency
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.
Category
Endocrine and metabolic disease
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
Pathway
hsa04979  Cholesterol metabolism
hsa00561  Glycerolipid metabolism
Gene
LIPC [HSA:3990] [KO:K22283]
Other DBs
ICD-11: 5C80.Y
ICD-10: E78.4
MeSH: C535904
OMIM: 614025
Reference
PMID:6961921
  Authors
Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G
  Title
Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase.
  Journal
Atherosclerosis 45:161-79 (1982)
DOI:10.1016/0021-9150(82)90136-8
Reference
  Authors
Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B
  Title
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians.
  Journal
J Lipid Res 44:1508-14 (2003)
DOI:10.1194/jlr.M200479-JLR200
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