GACI
MCID: ART035
MIFTS: 47

Arterial Calcification of Infancy (GACI) malady

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

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Disease Ontology:8 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.

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 and 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...

Descriptions from OMIM:46 614473,208000

GeneReviews summary for gaci

Aliases & Classifications for Arterial Calcification of Infancy

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Arterial Calcification of Infancy, Aliases & Descriptions:

Name: Arterial Calcification of Infancy 8 42 22 62
Generalized Arterial Calcification of Infancy 8 19 10
Generalized Arterial Calcification in Infancy 42 20 62
Idiopathic Infantile Arterial Calcification 8 19 42
Iiac 19 42 62
 
Arterial Calcification, Generalized, of Infancy 62
Occlusive Infantile Arteriopathy 42
Infantile Arteriosclerosis 8
Gaci 19


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050644

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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Clinical features from OMIM:

614473,208000

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:

32
Heart, Testes

Animal Models for Arterial Calcification of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

36
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
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. (25367056)
2014
2
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
3
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
4
Generalized arterial calcification of infancy. (23245193)
2013
5
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
6
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
7
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
8
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
9
Molecular diagnosis of generalized arterial calcification of infancy (GACI). (22629037)
2012
10
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
11
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (23430823)
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
id Gene Name Type Significance SNP ID Assembly Location
1ENPP1NM_006208.2(ENPP1): c.797G> T (p.Gly266Val)single nucleotide variantPathogenicrs121908248GRCh37Chr 6, 132181528: 132181528

Expression for genes affiliated with Arterial Calcification of Infancy

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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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Compounds related to Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metformin44 50 1111.7ACE, ENPP1
2hydroxyapatite449.6FGF23, ENPP1
3phosphorus449.3FGF23, PHEX
41,25 dihydroxy vitamin d3449.1PHEX, FGF23
5lipid449.1ACE, ABCC6, ENPP1
6calcitriol44 61 24 1111.8FGF23, PHEX
7sodium44 249.7ACE, PHEX, SLC20A2
8calcium44 50 24 1111.1PHEX, 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/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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Sources for Arterial Calcification of Infancy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet