MCID: ART035
MIFTS: 38

Arterial Calcification of Infancy

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arterial Calcification of Infancy

MalaCards integrated aliases for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 12 72 49 28 14 69
Generalized Arterial Calcification of Infancy 12 23 24 55 36
Idiopathic Infantile Arterial Calcification 12 23 49 24 55
Occlusive Infantile Arteriopathy 49 24 55
Iiac 23 49 24
Idiopathic Obliterative Arteriopathy 24 55
Infantile Arteriosclerosis 12 55
Gaci 23 24
Diffuse Arterial Calcifying Elastopathy of Infancy 24
Generalized Arterial Calcification in Infancy 49
Medial Coronary Sclerosis of Infancy 24
Arteriopathia Calcificans Infantum 24
Infantile Calcifying Arteriopathy 24

Characteristics:

Orphanet epidemiological data:

55
generalized arterial calcification of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050644
Orphanet 55 ORPHA51608
MESH via Orphanet 42 C537440
UMLS via Orphanet 70 C1859727 C0264955
ICD10 via Orphanet 33 Q28.8
KEGG 36 H01002
UMLS 69 C1859727

Summaries for Arterial Calcification of Infancy

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 51608Disease definitionIdiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.EpidemiologyApproximately 100 cases have been reported worldwide, with the majority of patients being Caucasians. The disease most commonly occurs in infants less than six months of age.Clinical descriptionSevere systemic hypertension, cardiomyopathy, and congestive heart failure are frequent complications. Associated anomalies are rare, and include non-specified cardiac anomalies, hydronephrosis, polycystic kidneys, trisomy 17 and 18. Pathologically, the condition is characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima, which causes luminal narrowing. The arterial lesions are widespread, but the resultant luminal narrowing invariably leads to coronary arterial occlusion and myocardial ischemia.EtiologyThe etiology is not completely understood. There is evidence of familial clusters. Recently, the disease has been found with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1.Diagnostic methodsClinical diagnosis is feasible with radiologic studies, including angiography, or computerized tomographic scans of arteries of the head, neck, and extremities.Differential diagnosisDifferential diagnosis includes endocardial fibroelastosis, myocardititis, storage disorders, infarction, anomalous insertion of the coronary arteries, cardiac anomalies, metastatic calcification due to renal disease, hypervitaminosis D, and infections. The disease should also be added to the list of differential diagnoses for non-immune fetal hydrops.Antenatal diagnosisAntenatal diagnosis has been reported, with findings of arterial calcifications, hydrops, abnormal cardiac contractility, and hyperechoic kidneys. The diagnosis is essential for genetic counseling, and for screening of siblings at risk for developing the disease.Genetic counselingAs an autosomal recessive inheritance is suggested, consanguinity increases the risk of developing the disease.Management and treatmentThere is no specific treatment for this disease.PrognosisPrognosis is poor. Most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months.Visit the Orphanet disease page for more resources. Last updated: 4/2/2007

MalaCards based summary : Arterial Calcification of Infancy, also known as generalized arterial calcification of infancy, is related to pseudoxanthoma elasticum and hypophosphatemic rickets, x-linked recessive. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are Purine metabolism and Starch and sucrose metabolism. Affiliated tissues include heart, skin and kidney, and related phenotypes are Decreased melanin production and cardiovascular system

Disease Ontology : 12 A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.

Genetics Home Reference : 24 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. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly).

Wikipedia : 72 Generalized Arterial Calcification of Infancy (GACI) also known as Idiopathic Infantile Arterial... more...

GeneReviews: NBK253403

Related Diseases for Arterial Calcification of Infancy

Diseases related to Arterial Calcification of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.1 ABCC6 ENPP1
2 hypophosphatemic rickets, x-linked recessive 29.6 ENPP1 FGF23 PHEX
3 rickets 29.6 ENPP1 FGF23 PHEX
4 autosomal recessive hypophosphatemic rickets 29.4 ENPP1 FGF23 PHEX
5 hypophosphatemia 29.4 ENPP1 FGF23 PHEX
6 arterial calcification, generalized, of infancy, 1 12.1
7 arterial calcification, generalized, of infancy, 2 11.9
8 calcification of joints and arteries 11.0
9 hypophosphatasia 10.1 ENPP1 PHEX
10 angioid streaks 10.1 ABCC6 GALNT3
11 opsismodysplasia 10.1 FGF23 PHEX
12 enthesopathy 10.1 FGF23 PHEX
13 optic disk drusen 10.1 ABCC6 GALNT3
14 oncogenic osteomalacia 10.1 FGF23 PHEX
15 hypervitaminosis d 10.1 FGF23 GALNT3
16 hypophosphatemic rickets, x-linked dominant 10.0 FGF23 PHEX
17 tumoral calcinosis, hyperphosphatemic, familial 10.0 FGF23 GALNT3
18 bone remodeling disease 10.0 FGF23 PHEX
19 hyperphosphatemia 10.0 FGF23 GALNT3
20 osteomalacia 9.9 FGF23 PHEX
21 lacrimoauriculodentodigital syndrome 9.9 FGF23 GALNT3
22 peritonitis 9.9
23 hyperostosis 9.9 FGF23 GALNT3
24 calciphylaxis 9.8 FGF23 NT5E
25 familial tumoral calcinosis 9.8 FGF23 GALNT3 PHEX
26 hypophosphatemic rickets, autosomal dominant 9.7 FGF23 GALNT3 PHEX
27 phosphorus metabolism disease 9.7 FGF23 GALNT3 PHEX
28 polykaryocytosis inducer 9.7
29 cervicitis 9.7
30 urinary system disease 9.7 ACE FGF23
31 mineral metabolism disease 9.7 FGF23 GALNT3 PHEX
32 hyperparathyroidism 9.6 FGF23 PHEX
33 hypophosphatemic rickets with hypercalciuria, hereditary 9.5 ENPP1 FGF23 GALNT3 PHEX
34 calcinosis 9.5 ENPP1 FGF23 GALNT3 PHEX

Graphical network of the top 20 diseases related to Arterial Calcification of Infancy:



Diseases related to Arterial Calcification of Infancy

Symptoms & Phenotypes for Arterial Calcification of Infancy

GenomeRNAi Phenotypes related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased melanin production GR00056-A 8.62 FGF23 NT5E

MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E
2 homeostasis/metabolism MP:0005376 9.5 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E
3 renal/urinary system MP:0005367 9.17 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E

Drugs & Therapeutics for Arterial Calcification of Infancy

Search Clinical Trials , NIH Clinical Center for Arterial Calcification of Infancy

Genetic Tests for Arterial Calcification of Infancy

Genetic tests related to Arterial Calcification of Infancy:

# Genetic test Affiliating Genes
1 Arterial Calcification of Infancy 28 ENPP1

Anatomical Context for Arterial Calcification of Infancy

MalaCards organs/tissues related to Arterial Calcification of Infancy:

38
Heart, Skin, Kidney, Bone, Testes

Publications for Arterial Calcification of Infancy

Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 70)
# Title Authors Year
1
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. ( 28402956 )
2017
2
A case of idiopathic arterial calcification of infancy diagnosed at autopsy. ( 27727415 )
2016
3
Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy. ( 26763447 )
2016
4
Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. ( 27863377 )
2016
5
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
6
Two newborn babies with generalized arterial calcification of infancy, two new mutations. ( 28276217 )
2016
7
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. ( 26624227 )
2015
8
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. ( 25975272 )
2015
9
Idiopathic Arterial Calcification of Infancy: Case Report. ( 27252793 )
2015
10
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. ( 26165490 )
2015
11
Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy. ( 26418675 )
2015
12
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. ( 24420383 )
2014
13
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
14
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). ( 24906371 )
2014
15
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. ( 25367056 )
2014
16
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. ( 24008425 )
2013
17
Generalized arterial calcification of infancy. ( 23245193 )
2013
18
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. ( 22705125 )
2013
19
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. ( 23798568 )
2013
20
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. ( 22972716 )
2013
21
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. ( 23883336 )
2013
22
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. ( 22209248 )
2012
23
Molecular diagnosis of generalized arterial calcification of infancy (GACI). ( 22629037 )
2012
24
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. ( 22229486 )
2012
25
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. ( 23269929 )
2012
26
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. ( 23430823 )
2011
27
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. ( 21932012 )
2011
28
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. ( 20137773 )
2010
29
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. ( 20034067 )
2010
30
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. ( 19206175 )
2009
31
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
32
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. ( 19452427 )
2009
33
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. ( 19479833 )
2009
34
Generalized arterial calcification of infancy: treatment with bisphosphonates. ( 19229237 )
2009
35
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. ( 20016754 )
2008
36
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. ( 18482240 )
2008
37
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. ( 18842162 )
2008
38
Generalized arterial calcification of infancy: two siblings with prolonged survival. ( 16315058 )
2006
39
New findings in idiopathic arterial calcification of infancy detected by MDCT. ( 16037532 )
2005
40
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. ( 15940697 )
2005
41
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). ( 15605415 )
2005
42
Idiopathic arterial calcification of infancy - a case report. ( 22368635 )
2004
43
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. ( 15131931 )
2004
44
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. ( 11178681 )
2001
45
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. ( 9545482 )
1998
46
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. ( 8960499 )
1997
47
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. ( 9213337 )
1997
48
Pathological case of the month. Idiopathic arterial calcification of infancy. ( 8541993 )
1996
49
Idiopathic arterial calcification of infancy: a case report. ( 7658182 )
1995
50
Idiopathic arterial calcification of infancy: genetic studies. ( 8496778 )
1993

Variations for Arterial Calcification of Infancy

ClinVar genetic disease variations for Arterial Calcification of Infancy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh37 Chromosome 6, 132211550: 132211550
2 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh37 Chromosome 6, 132185692: 132185702
3 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh37 Chromosome 6, 132198145: 132198145
4 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh37 Chromosome 6, 132182844: 132182844
5 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh37 Chromosome 6, 132186026: 132186026
6 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
7 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh37 Chromosome 6, 132179875: 132179875
8 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
9 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh37 Chromosome 6, 132195454: 132195454
10 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh38 Chromosome 6, 131858748: 131858748

Expression for Arterial Calcification of Infancy

Search GEO for disease gene expression data for Arterial Calcification of Infancy.

Pathways for Arterial Calcification of Infancy

Pathways related to Arterial Calcification of Infancy according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Starch and sucrose metabolism hsa00500
3 Riboflavin metabolism hsa00740
4 Nicotinate and nicotinamide metabolism hsa00760
5 Pantothenate and CoA biosynthesis hsa00770
6 Metabolic pathways hsa01100

Pathways related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.39 FGF23 GALNT3

GO Terms for Arterial Calcification of Infancy

Biological processes related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGF23 GALNT3
2 biomineral tissue development GO:0031214 9.4 ENPP1 PHEX
3 regulation of bone mineralization GO:0030500 9.37 ENPP1 FGF23
4 phosphate-containing compound metabolic process GO:0006796 9.32 ENPP1 FGF23
5 cellular response to vitamin D GO:0071305 9.26 FGF23 PHEX
6 cellular phosphate ion homeostasis GO:0030643 9.16 ENPP1 FGF23
7 cellular response to parathyroid hormone stimulus GO:0071374 8.96 FGF23 PHEX
8 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX

Sources for Arterial Calcification of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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