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CalcinosisVascular CalcificationVascular DiseasesCalcification, Physiologicalpha-2-HS-GlycoproteinAortic DiseasesOsteoprotegerinArteriesKidney Failure, ChronicPhosphatesRenal DialysisPhosphorusTomography, X-Ray ComputedHyperphosphatemiaPyrophosphatasesExtracellular Matrix ProteinsAortaPseudoxanthoma ElasticumMuscle, Smooth, VascularOsteopontinAtherosclerosisMyocytes, Smooth MuscleCalcium-Binding ProteinsCoronary Artery DiseaseAlkaline PhosphataseOsteoblastsXeromammographyCalciumUremiaBone Morphogenetic Protein 2Monckeberg Medial Calcific SclerosisCalcium CarbonateOsteocalcinPhosphoric Diester HydrolasesPhosphorus Metabolism DisordersPeripheral Arterial DiseaseHydrops FetalisRisk FactorsDiphosphatesRenal OsteodystrophyTunica MediaHeart Valve DiseasesArteriosclerosisBreast DiseasesRenal Insufficiency, ChronicKidney DiseasesAnkle Brachial IndexOsteogenesisCore Binding Factor Alpha 1 SubunitHyperparathyroidism, SecondaryIdiopathic Pulmonary FibrosisSialoglycoproteinsBone Diseases, EndocrineMineralsCardiovascular DiseasesSeverity of Illness IndexBone DensityCells, CulturedDisease Models, AnimalCalciphylaxisSodium-Phosphate Cotransporter Proteins, Type IIIDental Pulp CalcificationThiosulfatesAorta, AbdominalBlood VesselsPolyethylenesChronic DiseaseTomography, Spiral ComputedPolyaminesVitamin DChi-Square DistributionAngiographyPrevalenceMammographyParathyroid HormonePlaque, AtheroscleroticLower ExtremityPredictive Value of TestsAortic ValveAorta, ThoracicEtidronic AcidBone and BonesRisk AssessmentRANK LigandBreastGlycerophosphatesErgocalciferolsCalcium PhosphatesDisease ProgressionLogistic ModelsArterial Occlusive DiseasesBiological MarkersScoliosisOsteoporosisPhenotypeVitamin KMice, KnockoutBone DiseasesBasal Ganglia DiseasesCalcitriol
Infantile arterial calcificationGACIInfancyWallsDisorder
Infantile arterial calcification2
  • Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder, characterized by wide spread calcifications in arterial walls, leading to vaso-occlusive ischaemia of multiple organs. (nih.gov)
  • A diagnosis of Idiopathic infantile arterial calcification was made and a trial of Editronate therapy was given without success. (nih.gov)
GACI5
  • Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. (medlineplus.gov)
  • People with GACI may also have calcification in other organs and tissues, particularly around the joints. (medlineplus.gov)
  • Mutations in the ENPP1 gene are thought to result in reduced availability of pyrophosphate, leading to excessive calcification in the body and causing the signs and symptoms of GACI. (medlineplus.gov)
  • Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). (nih.gov)
  • The diagnosis of GACI is established in a proband with cardiovascular symptoms during infancy associated with widespread arterial calcification on imaging (once secondary causes have been ruled out) and biallelic pathogenic variants in ENPP1 or ABCC6 identified on molecular genetic testing . (nih.gov)
Infancy1
  • Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. (nih.gov)
Walls1
  • This calcification often occurs along with thickening of the lining of the arterial walls (the intima). (medlineplus.gov)
Disorder1
  • IIAC is a rare disorder, it should be considered whenever a neonate presents with unexplainable cardiac failure, PPHN, echogenic vessels on X-ray/ultrasound and, or concentric hypertrophic ventricles on ECHO. (nih.gov)