IIAC
MCID: ART035
MIFTS: 44

Arterial Calcification of Infancy (IIAC) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Arterial Calcification of Infancy

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A vascular disease that is characterized by generalised 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.

MalaCards: Arterial Calcification of Infancy, also known as generalized arterial calcification of infancy, is related to pseudoxanthoma elasticum and rickets. An important gene associated with Arterial Calcification of Infancy is ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1). The compounds metformin and hydroxyapatite have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are other and adipose tissue.

Wikipedia:65 Idiopathic Infantile Arterial Calcification (IIAC) also known as Arterial Calcification of Infancy,... more...

Description from OMIM:47 208000

Aliases & Classifications for Arterial Calcification of Infancy

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

arterial calcification of infancy 8 43 22
generalized arterial calcification of infancy 8 10
generalized arterial calcification in infancy 43 20
idiopathic infantile arterial calcification 8 43
occlusive infantile arteriopathy 43
iiac 43


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Disease Ontology8 DOID:0050644
OMIM47 208000

Related Diseases for Arterial Calcification of Infancy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Arterial Calcification of Infancy:



Diseases related to arterial calcification of infancy

Symptoms for Arterial Calcification of Infancy

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47OMIM
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Clinical features from OMIM:

208000

Drugs & Therapeutics for Arterial Calcification of Infancy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Arterial Calcification of Infancy

Search NIH Clinical Center for Arterial Calcification of Infancy

Genetic Tests for Arterial Calcification of Infancy

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20GeneTests, 22GTR
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Genetic tests related to Arterial Calcification of Infancy:

id Genetic test Affiliating Genes
1 Arterial Calcification, Generalized, of Infancy20 ENPP1
2 Arterial Calcification of Infancy22

Anatomical Context for Arterial Calcification of Infancy

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33MalaCards
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MalaCards organs/tissues related to Arterial Calcification of Infancy:

33
Testes

Animal Models for Arterial Calcification of Infancy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.9ABCC6, PHEX, ENPP1
2MP:00053758.6PHEX, ACE, ENPP1
3MP:00053858.3ABCC6, FGF23, ENPP1, ACE
4MP:00053878.2ENPP1, ACE, PHEX, FGF23
5MP:00053908.1SLC20A2, PHEX, ENPP1, FGF23
6MP:00053677.9FGF23, ABCC6, ACE, ENPP1, PHEX
7MP:00053787.6ACE, ENPP1, PHEX, SLC20A2, FGF23
8MP:00053767.3SLC20A2, PHEX, ENPP1, ABCC6, ACE, FGF23

Publications for Arterial Calcification of Infancy

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52PubMed
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Articles related to Arterial Calcification of Infancy:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
2
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
3
Generalized arterial calcification of infancy. (23245193)
2013
4
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
5
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
6
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
7
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
8
Molecular diagnosis of generalized arterial calcification of infancy (GACI). (22629037)
2012
9
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
10
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (23430823)
2011
11
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (20034067)
2010
12
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
13
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. (19206175)
2009
14
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. (19479833)
2009
15
Generalized arterial calcification of infancy: treatment with bisphosphonates. (19229237)
2009
16
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
17
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. (18842162)
2008
18
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. (18482240)
2008
19
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. (20016754)
2008
20
Generalized arterial calcification of infancy: two siblings with prolonged survival. (16315058)
2006
21
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
22
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
23
New findings in idiopathic arterial calcification of infancy detected by MDCT. (16037532)
2005
24
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. (15131931)
2004
25
Idiopathic arterial calcification of infancy - a case report. (22368635)
2004
26
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. (11178681)
2001
27
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. (9545482)
1998
28
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. (9213337)
1997
29
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. (8960499)
1997
30
Pathological case of the month. Idiopathic arterial calcification of infancy. (8541993)
1996
31
Idiopathic arterial calcification of infancy: a case report. (7658182)
1995
32
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. (8391568)
1993
33
Idiopathic arterial calcification of infancy: genetic studies. (8496778)
1993
34
Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant. (1447660)
1992
35
Idiopathic arterial calcification of infancy. (2007222)
1991
36
Idiopathic arterial calcification of infancy: a case with prolonged survival. (2400650)
1990
37
Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters. (3219207)
1988
38
Idiopathic arterial calcification of infancy. (3699816)
1986
39
Sonographic recognition of idiopathic arterial calcification of infancy. (3510511)
1986
40
Arteritis or idiopathic arterial calcification of infancy. (4054901)
1985
41
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. (6747757)
1984
42
Hypertension as the major problem of idiopathic arterial calcification of infancy. (6502343)
1984
43
Generalized arterial calcification of infancy in twins. (7139116)
1982
44
Idiopathic arterial calcification of infancy. (482993)
1979
45
Idiopathic arterial calcification of infancy. (521302)
1979
46
Idiopathic arterial calcification of infancy without intimal proliferation. (827091)
1976
47
Idiopathic arterial calcification of infancy: a clinicopathologic study. (1101174)
1975
48
Generalised arterial calcification of infancy. (5551335)
1971
49
Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. (13661108)
1959
50
Generalized arterial calcification of infancy. (13396267)
1957

Variations for Arterial Calcification of Infancy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Arterial Calcification of Infancy:

1
id Gene Name Type Significance SNP ID Assembly Location
1ENPP1NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter)single nucleotide variantPathogenicrs121918023GRCh37Chr 6, 132211550: 132211550
2ENPP1NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe)single nucleotide variantPathogenicrs121918024GRCh37Chr 6, 132198145: 132198145
3ENPP1NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val)single nucleotide variantPathogenicrs121918025GRCh37Chr 6, 132182844: 132182844
4ENPP1NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe)single nucleotide variantPathogenicrs121918026GRCh37Chr 6, 132186026: 132186026
5ENPP1NM_006208.2(ENPP1): c.797G> T (p.Gly266Val)single nucleotide variantPathogenicrs121908248GRCh37Chr 6, 132181528: 132181528
6ENPP1NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter)single nucleotide variantPathogenicrs267606784GRCh37Chr 6, 132179875: 132179875
7ENPP1NM_006208.2(ENPP1): c.913C> A (p.Pro305Thr)single nucleotide variantPathogenicrs374270497GRCh37Chr 6, 132181644: 132181644
8ENPP1NM_006208.2(ENPP1): c.1612G> C (p.Asp538His)single nucleotide variantPathogenicrs387906673GRCh37Chr 6, 132195454: 132195454

Expression for genes affiliated with Arterial Calcification of Infancy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arterial Calcification of Infancy

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Pathways for genes affiliated with Arterial Calcification of Infancy

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Compounds for genes affiliated with Arterial Calcification of Infancy

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metformin45 51 1111.7ACE, ENPP1
2hydroxyapatite459.6FGF23, ENPP1
3phosphorus459.3FGF23, PHEX
41,25 dihydroxy vitamin d3459.1PHEX, FGF23
5lipid459.1ACE, ABCC6, ENPP1
6calcitriol45 61 24 1111.8FGF23, PHEX
7sodium45 249.7ACE, PHEX, SLC20A2
8calcium45 51 24 1111.1PHEX, ENPP1, ACE, FGF23

GO Terms for genes affiliated with Arterial Calcification of Infancy

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16Gene Ontology
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Cellular components related to Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.5ENPP1, ABCC6
2extracellular spaceGO:0056158.7ACE, ENPP1, FGF23
3integral component of plasma membraneGO:0058878.6SLC20A2, PHEX, ENPP1
4plasma membraneGO:0058867.6ACE, ABCC6, SLC20A2, PHEX, ENPP1

Biological processes related to Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphate-containing compound metabolic processGO:0067969.5FGF23, ENPP1
2cellular phosphate ion homeostasisGO:0306439.2FGF23, ENPP1

Molecular functions related to Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:0082708.7PHEX, ENPP1, ACE

Products for genes affiliated with Arterial Calcification of Infancy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arterial Calcification of Infancy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet