KEGG   DISEASE: Combined lipase deficiency
Entry
H01101                      Disease                                
Name
Combined lipase deficiency
Description
Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in lipase maturation factor 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase.
Category
Inherited metabolic disorder
Brite
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
     H01101  Combined lipase deficiency
Gene
LMF1 [HSA:64788] [KO:K23555]
Other DBs
ICD-11: 5C80
ICD-10: E78.9
MeSH: C535904
OMIM: 246650
Reference
PMID:17994020
  Authors
Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH
  Title
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
  Journal
Nat Genet 39:1483-7 (2007)
DOI:10.1038/ng.2007.24
Reference
PMID:22063272
  Authors
Peterfy M
  Title
Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism.
  Journal
Biochim Biophys Acta 1821:790-4 (2012)
DOI:10.1016/j.bbalip.2011.10.006
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