LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 AlteredExpression disease BEFREE LAL activity was measured on dried blood spot from 120 patients with hypercholesterolemia or mixed dyslipidemia and was negatively correlated to LDL-cholesterol levels. 31330253 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 GeneticVariation disease BEFREE LIPA (lysosomal acid lipase) mediates cholesteryl ester hydrolysis, and patients with rare loss-of-function mutations develop hypercholesterolemia and severe disease. 31645127 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 Biomarker disease BEFREE In mice, LIPA inhibition caused defective clearance of apoptotic lymphocytes and stressed erythrocytes by hepatic and splenic macrophages, culminating in splenomegaly and splenic iron accumulation under hypercholesterolemia. 29523554 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 GeneticVariation disease BEFREE We used exome sequencing to assess all protein-coding regions of the genome in 3 family members and identified a homozygous exon 8 splice junction mutation (c.894G>A, also known as E8SJM) in LIPA that segregated with the diagnosis of hypercholesterolemia. 24072694 2013
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.440 Biomarker disease HPO