PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE We performed adipose tissue mRNA expression of proteins involved in triglyceride hydrolysis and correlated their weight loss induced alterations with systemic parameters associated with cardiovascular disease risk. mRNA transcripts of adipose triglyceride lipase (ATGL), hormone-sensitive lipase (HSL), and lipid droplet proteins comparative gene identification 58 (CGI-58) and perilipin increased significantly after weight loss (p < 0.05 for all). 26663986 2015
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		0.010 Biomarker group BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE The expression of PLIN1 (p < 0.001), FABP4 (p = 0.029), CPT-1A (p = 0.001), ACOX-1 (p < 0.001), and FASN (p < 0.001) differed significantly among these tumor subtypes. 25751270 2015
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Immunohistochemical staining for lipid metabolism-related proteins [fatty acid synthase (FASN), hormone-sensitive lipase (HSL), carnitine palmitoyltransferase IA (CPT-1A), acyl-CoA oxidase 1 (ACOX1), fatty acid binding protein 4 (FABP4,) and perilipin 1 (PLIN1)] was performed using a tissue microarray of 149 cases of metastatic breast cancer (bone metastasis = 39, brain metastasis = 37, liver metastasis = 21, and lung metastasis = 52). 26334757 2015
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		0.010 Biomarker disease BEFREE Immunohistochemical staining for lipid metabolism-related proteins [fatty acid synthase (FASN), hormone-sensitive lipase (HSL), carnitine palmitoyltransferase IA (CPT-1A), acyl-CoA oxidase 1 (ACOX1), fatty acid binding protein 4 (FABP4,) and perilipin 1 (PLIN1)] was performed using a tissue microarray of 149 cases of metastatic breast cancer (bone metastasis = 39, brain metastasis = 37, liver metastasis = 21, and lung metastasis = 52). 26334757 2015
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 Biomarker disease BEFREE Immunohistochemical staining for lipid metabolism-related proteins [fatty acid synthase (FASN), hormone-sensitive lipase (HSL), carnitine palmitoyltransferase IA (CPT-1A), acyl-CoA oxidase 1 (ACOX1), fatty acid binding protein 4 (FABP4,) and perilipin 1 (PLIN1)] was performed using a tissue microarray of 149 cases of metastatic breast cancer (bone metastasis = 39, brain metastasis = 37, liver metastasis = 21, and lung metastasis = 52). 26334757 2015
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		0.010 Biomarker disease BEFREE PPARγ, C/EBPα, adipophilin, and perilipin were found in each type of LS. 25650275 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		0.010 Biomarker disease BEFREE PPARγ, C/EBPα, adipophilin, and perilipin were found in each type of LS. 25650275 2015
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.010 Biomarker disease BEFREE In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS). 24152769 2014
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 AlteredExpression phenotype BEFREE The expression of Perilipin 1 and CGI-58 mRNA was increased and GS02 not altered in GDM. 25118138 2014
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		0.010 GeneticVariation disease BEFREE The sequences of CGI-58, the gene responsible for Chanarin-Dorfman syndrome (CDS), another multisystem triglyceride storage disease, and of two genes encoding lipid droplets-associated proteins, perilipin A and adipophilin, were normal. 20471263 2010
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 AlteredExpression phenotype BEFREE Perilipin overexpression in adipose tissue protects against HFD-induced adipocyte hypertrophy, obesity, and glucose intolerance. 19797618 2010
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE The human perilipin gene (PLIN) is located to 15q26.1, near the susceptibility loci for obesity, and insulin-dependent diabetes mellitus, and hypertriglyceridemia. 18777456 2008
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 Biomarker disease BEFREE ADRP and perilipin localized to the phagosomal membrane, which contains M. leprae in skin biopsy specimens of lepromatous leprosy. 19054096 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 GeneticVariation group BEFREE No association of the PLIN variants with stroke (P>0.05) or with stroke subtypes (P>0.05) was found in the first study. 18174481 2008
CUI: C0079102
Disease: Cerebral Thrombosis
Cerebral Thrombosis 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0795687
Disease: Cerebral arterial thrombosis
Cerebral arterial thrombosis 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 GeneticVariation disease BEFREE No association of PLIN polymorphisms with hemorrhagic and ischemic stroke. 18174481 2008
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 AlteredExpression disease BEFREE We sought to determine the effects of severe obesity and depot [omental (Om) vs. subcutaneous (Sc)] on perilipin expression in the adipose tissue of individuals. 12917496 2003
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general population. 31504636 2019
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		0.020 Biomarker group BEFREE All other types of soft tissue sarcomas were negative for perilipin 1. 31125552 2019