LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Recurrent abdominal pain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2585575
Disease: Recurrent abdominal pain
Recurrent abdominal pain 		0.010 GeneticVariation phenotype BEFREE Lipoprotein lipase (LPL) deficiency, caused by mutations in the LPL gene, is a rare autosomal recessive disorder manifesting in early childhood with recurrent abdominal pain, hepatosplenomegaly, acute pancreatitis, lipaemia retinalis and eruptive xanthomas. 25863041 2014