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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 Biomarker disease BEFREE 131 cervical biopsies, including 8 cases with no lesion and a negative hrHPV test result (control group), 19 low-grade (L)SIL/CIN1, 30 HSIL/CIN2, 60 HSIL/CIN3, and 14 CC were prospectively collected. hrHPV was detected and genotyped using the polymerase chain reaction (PCR)-based technique SPF10 HPV LIPA. 31067838 2019
CUI: C0085632
Disease: Apathy
Apathy
0.010 Biomarker phenotype BEFREE Using a 2 × 2 MANOVA with depression (CESD ≥ 16) and apathy (AES ≥ 34) as the independent variables and cognitive performance (i.e., verbal acquisition, short-term free recall, and long-term free recall) as the dependent variables, we found a main effect for apathy (F[3,134] = 2.98, p = .034), such that apathetic stroke patients (n = 24) performed significantly worse on verbal acquisition (F[1,136] = 6.44; p = .012), short-term free recall (F[1,136] = 7.86; p = .006), and long-term free recall (F[1,136] = 8.37; p = .004) than nonapathetic stroke patients (n = 116). 29788381 2019
CUI: C0153446
Disease: Malignant neoplasm of anus
Malignant neoplasm of anus
0.010 Biomarker disease BEFREE A retrospective study carried out over a 10-year period, using clinical and molecular data, with PCR analysis and reverse hybridization (INNO-LIPA kit), in anal cancers. 31641354 2019
CUI: C0279637
Disease: Anal carcinoma
Anal carcinoma
0.010 Biomarker disease BEFREE A retrospective study carried out over a 10-year period, using clinical and molecular data, with PCR analysis and reverse hybridization (INNO-LIPA kit), in anal cancers. 31641354 2019
CUI: C0279672
Disease: Cervical Adenocarcinoma
Cervical Adenocarcinoma
0.010 Biomarker disease BEFREE A total of 718 paraffin-embedded ADC specimens were collected in China and tested for HPV genotypes using SPF10-INNO-LIPA. 31347710 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE 131 cervical biopsies, including 8 cases with no lesion and a negative hrHPV test result (control group), 19 low-grade (L)SIL/CIN1, 30 HSIL/CIN2, 60 HSIL/CIN3, and 14 CC were prospectively collected. hrHPV was detected and genotyped using the polymerase chain reaction (PCR)-based technique SPF10 HPV LIPA. 31067838 2019
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.010 AlteredExpression disease BEFREE Patients with NAFLD show a significant, progressive reduction of LAL activity from simple steatosis to non-alcoholic steatohepatitis and cryptogenic cirrhosis. 31435171 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 Biomarker disease BEFREE 131 cervical biopsies, including 8 cases with no lesion and a negative hrHPV test result (control group), 19 low-grade (L)SIL/CIN1, 30 HSIL/CIN2, 60 HSIL/CIN3, and 14 CC were prospectively collected. hrHPV was detected and genotyped using the polymerase chain reaction (PCR)-based technique SPF10 HPV LIPA. 31067838 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 AlteredExpression disease BEFREE The value of LAL activity progressively decreased from healthy subjects to NAFL/NASH patients to CC (P < .001). 31392821 2019
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 GeneticVariation disease BEFREE Participants with complete data on religiosity (i.e., religious affiliation, frequency of attending religious activities and importance of religion), depression (assessed with the CESD-10), and trait anxiety (assessed with the STAI-10) were included in the present study. 29415030 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 GeneticVariation group BEFREE Participants with complete data on religiosity (i.e., religious affiliation, frequency of attending religious activities and importance of religion), depression (assessed with the CESD-10), and trait anxiety (assessed with the STAI-10) were included in the present study. 29415030 2018
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy
0.010 AlteredExpression disease BEFREE Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: karyomegalic interstitial nephritis; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule tumor. 30277423 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 AlteredExpression disease BEFREE LAL was up-regulated in ccRCC tissue.Tissue microarray analysis revealed higher levels of LAL in advanced grades of ccRCC, and high LAL expression indicated lower patient survival. 29569766 2018
INTERSTITIAL NEPHRITIS, KARYOMEGALIC
0.010 Biomarker disease BEFREE Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: karyomegalic interstitial nephritis; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule tumor. 30277423 2018
CUI: C4049993
Disease: Aristolochic Acid Nephropathy
Aristolochic Acid Nephropathy
0.010 AlteredExpression disease BEFREE Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: karyomegalic interstitial nephritis; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule tumor. 30277423 2018
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE Of note, lysosomal acid lipase (LAL) deficiency facilitates melanoma growth and metastasis. 28924047 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.010 AlteredExpression disease BEFREE LAL activity is also correlated with platelet and white blood cell count, suggesting an analytic interference of portal-hypertension-induced pancytopenia on DBS-determined LAL activity. 28587063 2017
CUI: C0030848
Disease: Peyronie Disease
Peyronie Disease
0.010 Biomarker disease BEFREE Two senior surgeons (GH, LAL) describe their surgical technique in detail, and provide important aspects and tips one has to be aware of when performing a grafting technique in patients with PD. 28904897 2017
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.010 Biomarker group BEFREE LAL-D should be considered in the differential diagnosis of healthy weight children and young adults with unexplained hepatic transaminase elevation accompanied by an elevated LDL-C level (>160 mg/dL) and low HDL-C level (<35 mg/dL) that is not caused by monogenic and polygenic lipid disorders or secondary factors. 28197978 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 Biomarker disease BEFREE Our data suggest that LDAH is not a major cholesterol ester hydrolase, and an alternative metabolic function may be responsible for its possible effect on development of prostate cancer. 27836991 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 Biomarker disease BEFREE Our data suggest that LDAH is not a major cholesterol ester hydrolase, and an alternative metabolic function may be responsible for its possible effect on development of prostate cancer. 27836991 2017
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 GeneticVariation disease BEFREE Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. 28958330 2017
Arteriosclerotic cardiovascular disease, NOS
0.010 Biomarker disease BEFREE LAL-D is characterized by accelerated atherosclerotic cardiovascular disease (ASCVD) and hepatic microvesicular or mixed steatosis, leading to inflammation, fibrosis, cirrhosis and liver failure. 28197978 2017
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia
0.010 GeneticVariation disease BEFREE An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene. 28538091 2017
CUI: C4732730
Disease: Blood spots
Blood spots
0.010 Biomarker disease BEFREE Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. 28532785 2017