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 50 29 14 69
Idiopathic Infantile Arterial Calcification 12 23 50 25 56
Generalized Arterial Calcification of Infancy 12 23 25 56
Occlusive Infantile Arteriopathy 50 25 56
Iiac 23 50 25
Idiopathic Obliterative Arteriopathy 25 56
Infantile Arteriosclerosis 12 56
Gaci 23 25
Diffuse Arterial Calcifying Elastopathy of Infancy 25
Generalized Arterial Calcification in Infancy 50
Medial Coronary Sclerosis of Infancy 25
Arteriopathia Calcificans Infantum 25
Infantile Calcifying Arteriopathy 25

Characteristics:

Orphanet epidemiological data:

56
generalized arterial calcification of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050644
Orphanet 56 ORPHA51608
MESH via Orphanet 43 C537440
UMLS via Orphanet 70 C1859727 C0264955
ICD10 via Orphanet 34 Q28.8

Summaries for Arterial Calcification of Infancy

NIH Rare Diseases : 50 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 idiopathic infantile arterial calcification, is related to arterial calcification, generalized, of infancy, 2 and arterial calcification, generalized, of infancy, 1. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways is Signaling by activated point mutants of FGFR3. Affiliated tissues include heart, skin and kidney, and related phenotypes are Decreased melanin production and cardiovascular system

Genetics Home Reference : 25 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).

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.

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 40)
id Related Disease Score Top Affiliating Genes
1 arterial calcification, generalized, of infancy, 2 11.8
2 arterial calcification, generalized, of infancy, 1 11.7
3 calcification of joints and arteries 10.9
4 uveoparotid fever 10.2 ABCC6 GALNT3
5 jacobsen syndrome 10.2 FGF23 PHEX
6 drug dependence 10.2 FGF23 GALNT3
7 acute frontal sinusitis 10.2 ENPP1 PHEX
8 maxillary sinus cancer 10.2 ABCC6 GALNT3
9 ophn1 syndrome 10.2 FGF23 PHEX
10 acute maxillary sinusitis 10.2 FGF23 PHEX
11 donnai-barrow syndrome 10.1 FGF23 GALNT3
12 coffin-lowry syndrome 10.1 FGF23 PHEX
13 loeys-dietz syndrome 10.1 FGF23 GALNT3
14 pseudoxanthoma elasticum 10.1
15 thanatophoric dysplasia, type ii 10.1 FGF23 GALNT3
16 bone deterioration disease 10.0 FGF23 PHEX
17 mild pre-eclampsia 10.0 FGF23 PHEX
18 pseudoxanthoma elasticum, forme fruste 10.0 ABCC6 ENPP1
19 post-traumatic stress disorder 9.9 FGF23 GALNT3
20 histiocytoid hemangioma 9.9 FGF23 NT5E
21 spastic ataxia 9.9 ENPP1 FGF23 PHEX
22 cervix uteri carcinoma in situ 9.9 ACE ENPP1
23 prostate cancer, hereditary, x-linked 2 9.9 ENPP1 FGF23 PHEX
24 commensal bacterial infectious disease 9.8 ENPP1 FGF23 PHEX
25 protein-losing enteropathy 9.8 ENPP1 FGF23 PHEX
26 peritonitis 9.8
27 hypophosphatemic rickets 9.8
28 rickets 9.8
29 calcinosis 9.8 ACE FGF23
30 fatal infantile encephalomyopathy 9.7 FGF23 GALNT3 PHEX
31 peroxisome biogenesis disorder 2a 9.7 FGF23 GALNT3 PHEX
32 gastric antral vascular ectasia 9.7 FGF23 GALNT3 PHEX
33 astrakhan spotted fever 9.7 FGF23 GALNT3 PHEX
34 hypophosphatemia 9.7
35 autosomal recessive hypophosphatemic rickets 9.7
36 cervicitis 9.7
37 subserous uterine fibroid 9.6 FGF23 PHEX
38 charcot-marie-tooth disease, type 4k 9.4 ENPP1 FGF23 GALNT3 PHEX
39 childhood absence epilepsy 9.4 ENPP1 FGF23 GALNT3 PHEX
40 atelosteogenesis 7.5 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E

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:

26
id 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:

44
id 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:

id Genetic test Affiliating Genes
1 Arterial Calcification of Infancy 29

Anatomical Context for Arterial Calcification of Infancy

MalaCards organs/tissues related to Arterial Calcification of Infancy:

39
Heart, Skin, Kidney, Bone, Testes

Publications for Arterial Calcification of Infancy

Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 70)
id 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
Idiopathic Arterial Calcification of Infancy: Case Report. ( 27252793 )
2015
8
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. ( 26165490 )
2015
9
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
10
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. ( 25975272 )
2015
11
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. ( 26624227 )
2015
12
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). ( 24906371 )
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
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. ( 24420383 )
2014
15
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. ( 25367056 )
2014
16
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. ( 23798568 )
2013
17
Generalized arterial calcification of infancy. ( 23245193 )
2013
18
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. ( 23883336 )
2013
19
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. ( 22972716 )
2013
20
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. ( 22705125 )
2013
21
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. ( 24008425 )
2013
22
Molecular diagnosis of generalized arterial calcification of infancy (GACI). ( 22629037 )
2012
23
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. ( 23269929 )
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 can be caused by mutations in either ENPP1 or ABCC6. ( 22209248 )
2012
26
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. ( 21932012 )
2011
27
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. ( 23430823 )
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
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
31
Generalized arterial calcification of infancy: treatment with bisphosphonates. ( 19229237 )
2009
32
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. ( 19479833 )
2009
33
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. ( 19452427 )
2009
34
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. ( 19206175 )
2009
35
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. ( 18482240 )
2008
36
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. ( 18842162 )
2008
37
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. ( 20016754 )
2008
38
Generalized arterial calcification of infancy: two siblings with prolonged survival. ( 16315058 )
2006
39
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). ( 15605415 )
2005
40
New findings in idiopathic arterial calcification of infancy detected by MDCT. ( 16037532 )
2005
41
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. ( 15940697 )
2005
42
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. ( 15131931 )
2004
43
Idiopathic arterial calcification of infancy - a case report. ( 22368635 )
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
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. ( 9213337 )
1997
47
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. ( 8960499 )
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 (show all 11)
id 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 ENPP1, 11-BP DEL, NT1072 deletion Pathogenic
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 ENPP1, IVS7, G-A, +1 single nucleotide variant Pathogenic
11 ENPP1 ENPP1, GLY586ARG undetermined variant Pathogenic

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 GeneCards Suite gene sharing:

id 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:

id 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 phosphate-containing compound metabolic process GO:0006796 9.37 ENPP1 FGF23
4 regulation of bone mineralization GO:0030500 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....