MCID: GNR001
MIFTS: 30

Generalized Arterial Calcification of Infancy malady

Summaries for Generalized Arterial Calcification of Infancy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Idiopathic Infantile Arterial Calcification (IIAC) also known as Arterial Calcification of Infancy,... more...

MalaCards: Generalized Arterial Calcification of Infancy, also known as arterial calcification, generalized, of infancy, is related to pseudoxanthoma elasticum and hypophosphatemia. An important gene associated with Generalized Arterial Calcification of Infancy is ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1). The compounds metformin and hydroxyapatite have been mentioned in the context of this disorder. Related mouse phenotypes are other and renal/urinary system.

Description from OMIM:46 208000

Aliases & Classifications for Generalized Arterial Calcification of Infancy

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8Disease Ontology, 60UMLS, 46OMIM
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Aliases & Descriptions:

generalized arterial calcification of infancy 8
arterial calcification, generalized, of infancy 60
idiopathic infantile arterial calcification 8


External Ids:

Disease Ontology8 DOID:0050644
OMIM46 208000

Related Diseases for Generalized Arterial Calcification of Infancy

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



Diseases related to generalized arterial calcification of infancy

Clinical Features for Generalized Arterial Calcification of Infancy

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46OMIM
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Clinical features from OMIM:

208000

Drugs & Therapeutics for Generalized Arterial Calcification of Infancy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Generalized Arterial Calcification of Infancy

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Anatomical Context for Generalized Arterial Calcification of Infancy

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Animal Models for Generalized Arterial Calcification of Infancy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Generalized Arterial Calcification of Infancy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.9ABCC6, ENPP1, PHEX
2MP:00053678.0ACE, PHEX, FGF23, ABCC6
3MP:00053907.9PHEX, ENPP1, SLC20A2, FGF23
4MP:00053787.7FGF23, PHEX, SLC20A2, ACE, ENPP1
5MP:00053767.3SLC20A2, PHEX, FGF23, ABCC6, ACE, ENPP1

Publications for Generalized Arterial Calcification of Infancy

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50PubMed
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Articles related to Generalized Arterial Calcification of Infancy:

(show all 24)
idTitleAuthorsYear
1
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. (24420383)
2014
2
Generalized arterial calcification of infancy. (23245193)
2013
3
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
4
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
5
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. (22972716)
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
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. (23269929)
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
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
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. (19452427)
2009
18
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. (20016754)
2008
19
Generalized arterial calcification of infancy: two siblings with prolonged survival. (16315058)
2006
20
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
21
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
22
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. (6747757)
1984
23
Generalized arterial calcification of infancy in twins. (7139116)
1982
24
Generalized arterial calcification of infancy. (13396267)
1957

Genetic Variations for Generalized Arterial Calcification of Infancy

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Expression for genes affiliated with Generalized Arterial Calcification of Infancy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Generalized Arterial Calcification of Infancy

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Pathways for genes affiliated with Generalized Arterial Calcification of Infancy

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Compounds for genes affiliated with Generalized Arterial Calcification of Infancy

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Generalized Arterial Calcification of Infancy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metformin44 49 1111.6ACE, ENPP1
2hydroxyapatite449.2ENPP1, FGF23
3phosphorus449.1FGF23, PHEX
41,25 dihydroxy vitamin d3449.0FGF23, PHEX
5sodium44 249.6ACE, SLC20A2, PHEX
6calcium44 49 11 2410.7ENPP1, ACE, FGF23, PHEX, S100A11

GO Terms for genes affiliated with Generalized Arterial Calcification of Infancy

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16Gene Ontology
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Biological processes related to Generalized Arterial Calcification of Infancy according to GeneCards/GeneDecks:

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

Products for genes affiliated with Generalized Arterial Calcification of Infancy

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Sources for Generalized 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet