KEGG   DISEASE: Pancreatic lipase deficiency
Entry
H02330                      Disease                                

Name
Pancreatic lipase deficiency
Description
Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. It has been reported that PNLIP mutations are causative for the phenotype.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H02330  Pancreatic lipase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C62  Disorders of lipid absorption or transport
     H02330  Pancreatic lipase deficiency
Pathway
hsa04977 Vitamin digestion and absorption   
hsa04972 Pancreatic secretion   
hsa00561 Glycerolipid metabolism   
hsa04975 Fat digestion and absorption   
Gene
PNLIP [HSA:5406] [KO:K14073]
Other DBs
ICD-11: 5C62
ICD-10: K90.3
OMIM: 614338
Reference
  Authors
Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A
  Title
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
  Journal
J Lipid Res 55:307-12 (2014)
DOI:10.1194/jlr.P041103
Reference
PMID:6153713
  Authors
Figarella C, De Caro A, Leupold D, Poley JR
  Title
Congenital pancreatic lipase deficiency.
  Journal
J Pediatr 96:412-6 (1980)
DOI:10.1016/s0022-3476(80)80683-4
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