APCS, amyloid P component, serum, 325

N. diseases: 141; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.100 GeneticVariation group BEFREE Epstein-Barr virus (EBV) infection was significantly more common in SAP-deficient 10/13 (76.9%) than XIAP-deficient 2/7 (28.6%) patients, as was hypogammaglobulinemia (10/13 (76.9%) vs. 1/7 (14.3%)). 31754776 2020
X-Linked Lymphoproliferative Disorder
0.100 GeneticVariation disease BEFREE HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH. 31754776 2020
Lymphoproliferative Syndrome, X-Linked, 2
0.050 Biomarker disease BEFREE We identified 13 and 7 patients with SAP and XIAP deficiency, respectively, in our center. 31754776 2020
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic
0.040 Biomarker disease BEFREE One XIAP- and three SAP-deficient patients died, while 3/7(42.9%) and 4/13(30.8%), respectively, developed hemophagocytic lymphohistiocytosis (HLH). 31754776 2020
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.040 Biomarker disease BEFREE Significantly reduced levels of switched memory B cells were observed in six SAP-deficient patients with persistent hypogammaglobulinemia. 31754776 2020
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.010 Biomarker disease BEFREE Moreover, the SAP-drug group had better efficacy on promoting tubular cell proliferation and dedifferentiation than SAP or Free-drug alone, and thus reduced chronic renal fibrosis in I/R mice. 31843715 2020
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
0.010 Biomarker disease BEFREE Moreover, the SAP-drug group had better efficacy on promoting tubular cell proliferation and dedifferentiation than SAP or Free-drug alone, and thus reduced chronic renal fibrosis in I/R mice. 31843715 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 Biomarker disease BEFREE Reduced XRCC6 activity and function may be relevant to ASD etiology due to XRCC6's role in nonhomologous DNA repair and interactions of the C-terminal SAP domain with DEAF1, a nuclear transcriptional regulator that is important during embryonic development. 31827253 2020
X-Linked Lymphoproliferative Disorder
0.100 GeneticVariation disease BEFREE Defective signaling via 2B4 due to mutations in signaling adaptor SAP contributes to X-linked lymphoproliferative Disease (XLP). 30347240 2019
X-Linked Lymphoproliferative Disorder
0.100 Biomarker disease BEFREE Furthermore, SAP deficiency causes X-linked lymphoproliferative disease with multiple immune defects including a lack of circulating NKT cells. 31293596 2019
X-Linked Lymphoproliferative Disorder
0.100 GeneticVariation disease BEFREE In human patients with X-linked lymphoproliferative (XLP) disease, which is caused by SAP mutations, SFRs alternatively bind other inhibitory SH2 domain-containing molecules to suppress immune cell activation and development. 30911116 2019
CUI: C0340288
Disease: Stable angina
Stable angina
0.060 GeneticVariation disease BEFREE Groups were divided as follows: normal coronary artery (control group), nonobstructive coronary atherosclerosis (<50% stenosis in all coronary vessels, NOCA group), stable angina (SAP group), and acute coronary syndrome (ACS group). 31275446 2019
CUI: C0340288
Disease: Stable angina
Stable angina
0.060 GeneticVariation disease BEFREE The patients were divided in 4 groups: patients without coronary artery disease (control group), patients with stable angina pectoris (SAP group), patients with non-ST-segment elevation acute coronary syndrome (NSTE-ACS group), and patients with ST-segment elevation acute myocardial infarction group (STEMI group). 30898992 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.040 Biomarker disease BEFREE We aimed to evaluate whether early (first 48 h) hyperchloremia and/or the change of serum chloride concentration are associated with acute kidney injury (AKI) in patients with moderately severe and severe acute pancreatitis (MSAP and SAP). 30473463 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.040 Biomarker disease BEFREE Amelioration of both experimental AP and SAP by CB0313.1 indicated a non-model-specific effect. 31034143 2019
ST segment elevation myocardial infarction
0.030 Biomarker disease BEFREE RESULTS Our results found the protein levels of Syk and inflammatory factors expression in the NSTE-ACS and STEMI groups were higher than those in the SAP and control groups. 30898992 2019
ST segment elevation myocardial infarction
0.030 GeneticVariation disease BEFREE Patients with STEMI (20 ND, 13 T2D) and 3 control groups (non-STEMI [14 ND, 13 T2D], stable angina pectoris [SAP] [8 ND, 10 T2D] patients and healthy subjects) (n = 25) were studied. 30084185 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.030 Biomarker disease BEFREE <i>In vitro</i>-differentiated human CD163<sup>+</sup> and CD204<sup>+</sup> macrophages both secreted TGF-β1; however, the novel IPF drug pentraxin 2/serum amyloid protein could suppress secretion only by CD204<sup>+</sup> macrophages. 31656675 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.030 Biomarker disease BEFREE Long-term treatment with recombinant human pentraxin 2 protein in patients with idiopathic pulmonary fibrosis: an open-label extension study. 31122893 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.020 AlteredExpression group BEFREE Although high APP levels have been broadly associated with bacterial infections, there is a growing body of evidence revealing increased PTX, CRP and SAP expression upon viral infection. 31323216 2019
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.020 Biomarker phenotype BEFREE Three proteins; afamin, serum amyloid P-component and vitronectin could be further confirmed as predictors of GDM in a validation set. 30917176 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 GeneticVariation disease BEFREE We aimed to evaluate whether early (first 48 h) hyperchloremia and/or the change of serum chloride concentration are associated with acute kidney injury (AKI) in patients with moderately severe and severe acute pancreatitis (MSAP and SAP). 30473463 2019
Delirium, Dementia, Amnestic, Cognitive Disorders
0.010 Biomarker group BEFREE In conclusion, the CATB/SAPC complex represents a novel target against HIV-associated neurocognitive disorders. 31142756 2019
CUI: C0042164
Disease: Uveitis
Uveitis
0.010 Biomarker disease BEFREE A three-analyte biosignature (Apo-A1, SAP and CRP) separated the herpetic group from other groups with AUC = 0.79 (95% CI: 0.65-0.93).<i>Conclusion</i>: We have identified candidate biomarkers with potential to differentiate between herpetic, syphilitic and other causes of uveitis. 31697216 2019
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia
0.010 Biomarker disease BEFREE We aimed to evaluate whether early (first 48 h) hyperchloremia and/or the change of serum chloride concentration are associated with acute kidney injury (AKI) in patients with moderately severe and severe acute pancreatitis (MSAP and SAP). 30473463 2019