PAPPA2, pappalysin 2, 60676

N. diseases: 28; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 AlteredExpression phenotype BEFREE This is the first study to show increased pregnancy-associated plasma protein-A2 levels in gestational diabetes. 31340069 2020
CUI: C0747845
Disease: early pregnancy
early pregnancy 		0.010 Biomarker phenotype BEFREE Pregnancy-associated plasma protein-A2 also shows promise as a pre-screening biomarker with the potential to reduce the need for performing oral glucose tolerance tests in early pregnancy. 31340069 2020
CUI: C0341862
Disease: Hypothalamic amenorrhea
Hypothalamic amenorrhea 		0.010 Biomarker disease BEFREE IGF-binding proteins (IGFBPs) and related proteases (total and intact IGFBP 3 and IGFBP 4, total IGFBP 5, PAPPA, PAPPA2 and Stanniocalcin-2), during acute (short-term fasting in healthy subjects) and chronic (women with hypothalamic amenorrhea [HA] due to excessive exercise) energy deprivation and whether metreleptin administration, in replacement, supraphysiologic or pharmacologic levels, may mediate any changes of circulating levels of the above molecules in healthy individuals and in women with hypothalamic amenorrhea. 31103608 2019
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.010 Biomarker disease BEFREE In humans, case reports of mutations in the genes affecting the GH-IGF axis and growth (GH, GHRH, GH-R, STAT5b, IGF-I, IGF-II, IGF-1R, PAPPA2) are also characterized by delayed pubertal onset and micropenis. 30840065 2019
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 Biomarker disease BEFREE In humans, case reports of mutations in the genes affecting the GH-IGF axis and growth (GH, GHRH, GH-R, STAT5b, IGF-I, IGF-II, IGF-1R, PAPPA2) are also characterized by delayed pubertal onset and micropenis. 30840065 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.010 Biomarker disease BEFREE Although the present results indicate that the PAPP-A2, PAPP-A, XKR4, MBL-1 and ESRRG genes influence sexual precocity in Nellore heifers, further studies are needed to evaluate their possible use in breeding programs. 29293544 2018
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.010 Biomarker phenotype BEFREE Although the present results indicate that the PAPP-A2, PAPP-A, XKR4, MBL-1 and ESRRG genes influence sexual precocity in Nellore heifers, further studies are needed to evaluate their possible use in breeding programs. 29293544 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE There was a significant interaction between PAPP-A and PAPP-A2 on the mortality due to infection of HD patients (p=0.008). 28854436 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 Biomarker disease BEFREE There was a significant interaction between PAPP-A and PAPP-A2 on the mortality due to infection of HD patients (p=0.008). 28854436 2017
CUI: C0151864
Disease: Disorder of pregnancy
Disorder of pregnancy 		0.010 Biomarker group BEFREE Together, our data suggest that PAPPA2 may be upregulated in severe pre-eclampsia and, functionally, this may be mediated via increased placental hypoxia known to occur with this pregnancy disorder. 23484525 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE We demonstrate that the ATM gene and the PAPPA2 gene could be identified as cancer prognosis related genes. 24069199 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE We demonstrate that the ATM gene and the PAPPA2 gene could be identified as cancer prognosis related genes. 24069199 2013
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.020 Biomarker phenotype BEFREE PAPP-A2 deficiency does not exacerbate the phenotype of a mouse model of intrauterine growth restriction. 29895300 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.020 AlteredExpression phenotype BEFREE The findings suggest a possible pathophysiological link between the development of FGR and the expression of PAPPA, PAPPA2 and PLAC-1. 29532882 2018
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.020 AlteredExpression disease BEFREE There is some evidence that PAPPA2 mRNA and protein are increased in association with pre-eclampsia. 23484525 2014
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.020 AlteredExpression disease BEFREE Maternal serum concentrations of PAPP-A2 but not PAPP-A were also significantly elevated in pre-eclampsia as compared with uncomplicated pregnancy. mRNA levels of IGFBP5, a specific substrate for PAPP-A2 protease activity, were also significantly increased, suggesting a potential role for IGFBP5 in fetal and placental growth suppression during pre-eclampsia. 18805800 2008
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.030 Biomarker disease BEFREE Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis: Understanding the concept of "low IGF-I availability". 29653372 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.030 GeneticVariation disease BEFREE In collaboration with a group in Madrid, we reported the first human cases carrying mutations in the PAPPA2 gene who presented with short stature, elevated total IGF-1, IGFBP-3, IGFBP-5 and ALS, but low free IGF-1. 29280739 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.030 GeneticVariation disease BEFREE Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. 26902202 2016
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.040 Biomarker disease BEFREE The PAPP-A2 and IGF pathway-associated proteins may also be involved in the development of the rat's hip joint, which bring the foundation for further revealing the pathogenic mechanism of DDH. 30915115 2019
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.040 Biomarker disease BEFREE The aim of this study was to investigate the insulin-like growth factor (IGF) expression and collagen synthesis as well as cartilage proliferation-related proteins in the case of abnormal expression of Pappa2 in mice to research the relationship between PAPP-A2 and the pathological changes of DDH. 31168749 2019
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.040 Biomarker disease BEFREE The association between PAPPA2 and DDH should be evaluated by additional studies. 24672801 2014
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.040 GeneticVariation disease BEFREE To further evaluate this possible association, in the present study, we examined the genetic association of rs726252 in PAPPA2 gene with sporadic DDH in Han Chinese population using case-control study, including 310 patients with sporadic DDH and 487 control subjects, and found a significant association between PAPPA2 and DDH. 22037112 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE Mutations in the pregnancy-associated plasma protein A2 (PAPP-A2) gene have recently been shown to cause postnatal growth failure in two prepubertal patients from a non-consanguineous Spanish family due to the resulting decrease in IGF1 bioavailability. 30119035 2019
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE Mutations in the pregnancy-associated plasma protein A2 (PAPP-A2) gene have recently been shown to cause postnatal growth failure in two prepubertal patients from a non-consanguineous Spanish family due to the resulting decrease in IGF1 bioavailability. 30119035 2019