Disease: Arterial calcification of infancy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. 29976176 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE Bisphosphonate treatment has been described to improve survival in ENPP1-positive GACI patients, but few studies have described bisphosphonate treatment in ABCC6-positive patients. 30206659 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy. 30158213 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP. 30369595 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease MGD Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. 28592560 2017
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease MGD The Enpp1asj mutant mouse provides a new animal model for studying tympanosclerotic otitis and otitis media with effusion, and also provides a specific model for the hearing loss recently reported to be associated with human ENPP1 mutations causing generalized arterial calcification of infancy and hypophosphatemic rickets. 27959908 2016
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE In humans, variants in ENPP1 are associated with generalized arterial calcification of infancy, an autosomal-recessive condition causing premature onset of arterial calcification and intimal proliferation resulting in stenoses. 27467858 2016
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. 25741938 2015
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. 26624227 2015
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease MGD Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. 25479107 2014
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease MGD Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. 23798568 2013
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Sequencing of ENPP1 disclosed a homozygous missense mutation, p.Y513C, associated with generalized arterial calcification of infancy. 22229486 2012
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 20137773 2010
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1. 19521093 2009
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE A phosphate-poor diet markedly increases survival of NPP1 null mice, a model of generalized arterial calcification of infancy. 20016754 2008
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. 17848394 2008
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 CausalMutation disease CLINVAR Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 20016754 2008
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 12881724 2003
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease CTD_human