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: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.020 Biomarker group BEFREE Wolman disease is a lethal lysosomal storage disease due to deficiency of lysosomal acid lipase (LAL). 11177564 2001
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.020 GeneticVariation group BEFREE Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). 28659158 2017
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation disease CLINVAR Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321 2011
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 AlteredExpression disease BEFREE With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). 29339442 2018
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		0.600 AlteredExpression disease BEFREE With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). 29339442 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE When the combination of the resistin SNP with each of b3AR, PDE3B and LAL SNPs was assessed, no association with type 2 diabetes was evident. 12965109 2003
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.100 Biomarker disease BEFREE We used the data from the China Health and Retirement Longitudinal Study (CHARLS, 2013) (n = 10,935) This included data on financial transfers from all non-co-resident children to their parents, and the individual scores on depressive symptoms as measured by the 10-item Center for Epidemiologic Studies-Depression Scale (CESD-10). 30012123 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease BEFREE We used the data from the China Health and Retirement Longitudinal Study (CHARLS, 2013) (n = 10,935) This included data on financial transfers from all non-co-resident children to their parents, and the individual scores on depressive symptoms as measured by the 10-item Center for Epidemiologic Studies-Depression Scale (CESD-10). 30012123 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 Biomarker phenotype BEFREE We used the data from the China Health and Retirement Longitudinal Study (CHARLS, 2013) (n = 10,935) This included data on financial transfers from all non-co-resident children to their parents, and the individual scores on depressive symptoms as measured by the 10-item Center for Epidemiologic Studies-Depression Scale (CESD-10). 30012123 2018
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.050 Biomarker phenotype BEFREE We used the data from the China Health and Retirement Longitudinal Study (CHARLS, 2013) (n = 10,935) This included data on financial transfers from all non-co-resident children to their parents, and the individual scores on depressive symptoms as measured by the 10-item Center for Epidemiologic Studies-Depression Scale (CESD-10). 30012123 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.100 Biomarker disease BEFREE We used the CESD-10 to measure depression and the PedsQL to measure psychosocial functioning, and used multilevel structural equation modeling to test hypotheses. 30656489 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease BEFREE We used the CESD-10 to measure depression and the PedsQL to measure psychosocial functioning, and used multilevel structural equation modeling to test hypotheses. 30656489 2020
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 Biomarker phenotype BEFREE We used the CESD-10 to measure depression and the PedsQL to measure psychosocial functioning, and used multilevel structural equation modeling to test hypotheses. 30656489 2020
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: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.040 Biomarker disease BEFREE We sequenced LDLR, APOB, PCSK9, LDLRAP1, APOE, LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH. 31809983 2020
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.030 Biomarker disease BEFREE We sequenced LDLR, APOB, PCSK9, LDLRAP1, APOE, LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH. 31809983 2020
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 Biomarker disease BEFREE We provide evidence that the strikingly more severe course of Wolman disease is caused by genetic defects of LAL that leave no residual enzyme activity. 8617513 1996
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.020 Biomarker disease BEFREE We performed viral typing by SFP(10)-LIPA on a consecutive series of 1,323 women undergoing colposcopy, 69% of whom had cervical biopsy, and correlated CIN severity with the type and number of HPVs. 19235847 2009
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 AlteredExpression disease BEFREE We investigated LAL activity in a cohort of patients with liver cirrhosis. 28396038 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.100 AlteredExpression disease BEFREE We investigate the association between spleen dimensions and LAL activity in non-alcoholic fatty liver disease (NAFLD) patients, in whom a reduced LAL activity has been reported. 28900817 2017
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation disease BEFREE We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant. 31004967 2019
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		0.600 GeneticVariation disease BEFREE We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant. 31004967 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE We identified a cluster of polymorphisms in APOE, SOAT1, APOE 5'-untranslated region, OLR1, CYP46A1, LPL, LIPA, and APOA4 conferring significant (p = .0002) susceptibility for Alzheimer's disease. 16013913 2005
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.040 AlteredExpression group BEFREE We found a progressive reduction of LAL activity according to liver disease severity. 31392821 2019
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic 		0.050 AlteredExpression disease BEFREE We found a marked reduction of LAL activity in patients with cryptogenic cirrhosis compared to the other known aetiologies. 28396038 2017