MCID: ART035
MIFTS: 43

Arterial Calcification of Infancy malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Arterial Calcification of Infancy

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 22GTR, 60UMLS, 19GeneReviews, 21Genetics Home Reference, 47Orphanet, 11DISEASES, 20GeneTests, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Arterial Calcification of Infancy, Aliases & Descriptions:

Name: Arterial Calcification of Infancy 9 41 22 60
Generalized Arterial Calcification of Infancy 9 19 41 21 11 47
Idiopathic Infantile Arterial Calcification 9 19 41 21 47
Idiopathic Obliterative Arteriopathy 41 21 47
Occlusive Infantile Arteriopathy 41 21 47
Infantile Arteriosclerosis 9 41 47
Iiac 19 41 21
 
Generalized Arterial Calcification in Infancy 41 20
Gaci 19 21
Diffuse Arterial Calcifying Elastopathy of Infancy 21
Medial Coronary Sclerosis of Infancy 21
Arteriopathia Calcificans Infantum 21
Infantile Calcifying Arteriopathy 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
generalized arterial calcification of infancy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050644
Orphanet47 51608
MESH via Orphanet34 C537440
ICD10 via Orphanet26 Q28.8
UMLS via Orphanet61 C0264955, C1859727

Summaries for Arterial Calcification of Infancy

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Genetics Home Reference:21 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).

MalaCards based summary: 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 heart, skin and testes, and related mouse phenotypes are other and adipose tissue.

Disease Ontology:9 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.

Wikipedia:63 Idiopathic Infantile Arterial Calcification (IIAC) also known as Arterial Calcification of Infancy,... more...

GeneReviews summary for gaci

Related Diseases for Arterial Calcification of Infancy

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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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Drugs & Therapeutics for Arterial Calcification of Infancy

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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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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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MalaCards organs/tissues related to Arterial Calcification of Infancy:

31
Heart, Skin, Testes

Animal Models for Arterial Calcification of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

35
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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Articles related to Arterial Calcification of Infancy:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
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
2
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. (25367056)
2014
3
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
4
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
5
Generalized arterial calcification of infancy. (23245193)
2013
6
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
7
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
8
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
9
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
10
Molecular diagnosis of generalized arterial calcification of infancy (GACI). (22629037)
2012
11
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
12
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (20034067)
2010
13
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
14
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. (19206175)
2009
15
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. (19479833)
2009
16
Generalized arterial calcification of infancy: treatment with bisphosphonates. (19229237)
2009
17
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
18
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. (18842162)
2008
19
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. (18482240)
2008
20
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. (20016754)
2008
21
Generalized arterial calcification of infancy: two siblings with prolonged survival. (16315058)
2006
22
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
23
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
24
New findings in idiopathic arterial calcification of infancy detected by MDCT. (16037532)
2005
25
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. (15131931)
2004
26
Idiopathic arterial calcification of infancy - a case report. (22368635)
2004
27
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. (11178681)
2001
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
Generalized Arterial Calcification of Infancy (25392903)
1993
35
Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant. (1447660)
1992
36
Idiopathic arterial calcification of infancy. (2007222)
1991
37
Idiopathic arterial calcification of infancy: a case with prolonged survival. (2400650)
1990
38
Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters. (3219207)
1988
39
Idiopathic arterial calcification of infancy. (3699816)
1986
40
Sonographic recognition of idiopathic arterial calcification of infancy. (3510511)
1986
41
Arteritis or idiopathic arterial calcification of infancy. (4054901)
1985
42
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. (6747757)
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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Clinvar genetic disease variations for Arterial Calcification of Infancy:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1ENPP1NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter)single nucleotide variantPathogenicrs121918023GRCh37Chr 6, 132211550: 132211550
2ENPP1ENPP1, 11-BP DEL, NT1072deletionPathogenic
3ENPP1NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe)single nucleotide variantPathogenicrs121918024GRCh37Chr 6, 132198145: 132198145
4ENPP1NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val)single nucleotide variantPathogenicrs121918025GRCh37Chr 6, 132182844: 132182844
5ENPP1NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe)single nucleotide variantPathogenicrs121918026GRCh37Chr 6, 132186026: 132186026
6ENPP1NM_006208.2(ENPP1): c.797G> T (p.Gly266Val)single nucleotide variantPathogenicrs121908248GRCh37Chr 6, 132181528: 132181528
7ENPP1NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter)single nucleotide variantPathogenicrs267606784GRCh37Chr 6, 132179875: 132179875
8ENPP1ENPP1, 2-BP DEL, 878AAdeletionPathogenic
9ENPP1NM_006208.2(ENPP1): c.913C> A (p.Pro305Thr)single nucleotide variantPathogenicrs374270497GRCh37Chr 6, 132181644: 132181644
10ENPP1NM_006208.2(ENPP1): c.1612G> C (p.Asp538His)single nucleotide variantPathogenicrs387906673GRCh37Chr 6, 132195454: 132195454
11ENPP1ENPP1, IVS7, G-A, +1single nucleotide variantPathogenic
12ENPP1ENPP1, GLY586ARGundetermined variantPathogenic
13ABCC6NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln)single nucleotide variantPathogenicrs67561842GRCh37Chr 16, 16272776: 16272776
14ABCC6NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys)single nucleotide variantPathogenicrs387906859GRCh37Chr 16, 16244622: 16244622
15ABCC6NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter)single nucleotide variantPathogenicrs72650700GRCh37Chr 16, 16284104: 16284104
16ABCC6NM_001171.5(ABCC6): c.450dupC (p.Ala151Argfs)duplicationPathogenicrs387906860GRCh37Chr 16, 16313434: 16313435
17ABCC6NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72653706GRCh37Chr 16, 16256935: 16256935
18ABCC6NM_001171.5(ABCC6): c.2787+1G> Tsingle nucleotide variantPathogenicrs72664209GRCh37Chr 16, 16267140: 16267140
19ABCC6NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp)single nucleotide variantPathogenicrs63750759GRCh37Chr 16, 16248831: 16248831
20ABCC6NM_001171.5(ABCC6): c.3736-1G> Asingle nucleotide variantPathogenicrs63750273GRCh37Chr 16, 16251667: 16251667

Expression for genes affiliated with Arterial Calcification of Infancy

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

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

idCompoundScoreTop Affiliating Genes
1metformin43 49 1211.7ACE, ENPP1
2hydroxyapatite439.6FGF23, ENPP1
3phosphorus439.3FGF23, PHEX
41,25 dihydroxy vitamin d3439.1PHEX, FGF23
5lipid439.1ACE, ABCC6, ENPP1
6calcitriol43 59 24 1211.8FGF23, PHEX
7sodium43 249.7ACE, PHEX, SLC20A2
8calcium43 49 24 1211.1PHEX, ENPP1, ACE, FGF23

GO Terms for genes affiliated with Arterial Calcification of Infancy

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

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.5ENPP1, ABCC6
2extracellular spaceGO:00056158.7ACE, ENPP1, FGF23
3integral component of plasma membraneGO:00058878.6SLC20A2, PHEX, ENPP1
4plasma membraneGO:00058867.6ACE, ABCC6, SLC20A2, PHEX, ENPP1

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

idNameGO IDScoreTop Affiliating Genes
1phosphate-containing compound metabolic processGO:00067969.5FGF23, ENPP1
2cellular phosphate ion homeostasisGO:00306439.2FGF23, ENPP1

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

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:00082708.7PHEX, ENPP1, ACE

Products for genes affiliated with Arterial Calcification of Infancy

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Sources for Arterial Calcification of Infancy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet