MCID: ART035
MIFTS: 40

Arterial Calcification of Infancy malady

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arterial Calcification of Infancy

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 25GTR, 66UMLS, 22GeneReviews, 24Genetics Home Reference, 52Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 11 46 13 25 66
Idiopathic Infantile Arterial Calcification 11 22 46 24 52
Generalized Arterial Calcification of Infancy 11 22 24 52
Occlusive Infantile Arteriopathy 46 24 52
Iiac 22 46 24
Idiopathic Obliterative Arteriopathy 24 52
Infantile Arteriosclerosis 11 52
 
Gaci 22 24
Diffuse Arterial Calcifying Elastopathy of Infancy 24
Generalized Arterial Calcification in Infancy 46
Medial Coronary Sclerosis of Infancy 24
Arteriopathia Calcificans Infantum 24
Infantile Calcifying Arteriopathy 24

Characteristics:

Orphanet epidemiological data:

52
idiopathic infantile arterial calcification:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050644
Orphanet52 ORPHA51608
UMLS via Orphanet67 C0264955, C1859727
ICD10 via Orphanet29 Q28.8
MESH via Orphanet38 C537440

Summaries for Arterial Calcification of Infancy

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Genetics Home Reference:24 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 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 ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways are Signaling by activated point mutants of FGFR3 and NAD metabolism. Affiliated tissues include skin, heart and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Disease Ontology:11 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 summary for NBK253403

Related Diseases for Arterial Calcification of Infancy

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Diseases related to Arterial Calcification of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1arterial calcification, generalized, of infancy, 232.9ABCC6, ENPP1
2arterial calcification, generalized, of infancy, 111.7
3desbuquois dysplasia 210.5ABCC6, ENPP1
4cerebral sarcoidosis10.3ABCC6, GALNT3
5jacobsen syndrome10.2FGF23, PHEX
6substance dependence10.2FGF23, GALNT3
7onychotrichodysplasia and neutropenia10.2FGF23, PHEX
8hyperostosis10.2FGF23, PHEX
9tibial collateral ligament bursitis10.2ABCC6, GALNT3
10ochronosis10.2ENPP1, PHEX
11tumoral calcinosis, hyperphosphatemic, familial10.2FGF23, GALNT3
12capillariasis10.2FGF23, GALNT3
13pseudoxanthoma elasticum10.2
14brugada syndrome10.2FGF23, PHEX
1546 xy gonadal dysgenesis10.1ABCC6, PHEX
16mild pre-eclampsia10.1FGF23, GALNT3
17thanatophoric dysplasia, type ii10.1FGF23, GALNT3
18bone deterioration disease10.0FGF23, PHEX
19calcification of joints and arteries10.0
20leukodystrophy10.0FGF23, PHEX
21spastic ataxia10.0ENPP1, FGF23, PHEX
22prostate cancer, hereditary, x-linked 29.9ENPP1, FGF23, PHEX
23hypophosphatemic rickets9.9
24rickets9.9
25peritonitis9.9
26commensal bacterial infectious disease9.9ENPP1, FGF23, PHEX
27maxillary sinusitis9.9FGF23, GALNT3
28protein-losing enteropathy9.9ENPP1, FGF23, PHEX
29chronic myelomonocytic leukemia9.9ACE, FGF23
30familial wilms tumor 29.8FGF23, GALNT3, PHEX
31peroxisome biogenesis disorder 2a9.8FGF23, GALNT3, PHEX
32hypophosphatemia9.8
33autosomal recessive hypophosphatemic rickets9.8
34cervicitis9.8
35sensory peripheral neuropathy9.8FGF23, GALNT3, PHEX
36loeys-dietz syndrome9.8FGF23, GALNT3, PHEX
37astrakhan spotted fever9.8FGF23, GALNT3, PHEX
38mononeuritis9.7ACE, FGF23
39tuberous sclerosis-19.5ENPP1, FGF23, GALNT3, PHEX
40status epilepticus9.5ENPP1, FGF23, GALNT3, PHEX
41atelosteogenesis7.3ABCC6, 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 for Arterial Calcification of Infancy

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Drugs & Therapeutics for Arterial Calcification of Infancy

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Interventional clinical trials:

Search ClinicalTrials, 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 of Infancy25

Anatomical Context for Arterial Calcification of Infancy

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MalaCards organs/tissues related to Arterial Calcification of Infancy:

34
Skin, Heart, Bone, Testes

Animal Models for Arterial Calcification of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6ABCC6, ACE, ENPP1, FGF23, GALNT3, NT5E
2MP:00053767.2ABCC6, ACE, ENPP1, FGF23, GALNT3, NT5E
3MP:00053676.9ABCC6, ACE, ENPP1, FGF23, GALNT3, NT5E

Publications for Arterial Calcification of Infancy

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Articles related to Arterial Calcification of Infancy:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. (26857895)
2016
2
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. (26165490)
2015
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. (26418675)
2015
4
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. (26624227)
2015
5
Idiopathic Arterial Calcification of Infancy: Case Report. (27252793)
2015
6
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. (25975272)
2015
7
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
8
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. (25367056)
2014
9
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. (24420383)
2014
10
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
11
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
12
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. (22972716)
2013
13
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
14
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
15
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
16
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
17
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (23430823)
2011
18
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
19
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (20034067)
2010
20
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. (19479833)
2009
21
Generalized arterial calcification of infancy: treatment with bisphosphonates. (19229237)
2009
22
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. (19206175)
2009
23
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. (18842162)
2008
24
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. (18482240)
2008
25
Generalized arterial calcification of infancy: two siblings with prolonged survival. (16315058)
2006
26
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
27
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
28
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. (15131931)
2004
29
Idiopathic arterial calcification of infancy - a case report. (22368635)
2004
30
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. (11178681)
2001
31
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. (9545482)
1998
32
Pathological case of the month. Idiopathic arterial calcification of infancy. (8541993)
1996
33
Generalized Arterial Calcification of Infancy (25392903)
1993
34
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. (8391568)
1993
35
Idiopathic arterial calcification of infancy: genetic studies. (8496778)
1993
36
Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant. (1447660)
1992
37
Idiopathic arterial calcification of infancy. (2007222)
1991
38
Idiopathic arterial calcification of infancy: a case with prolonged survival. (2400650)
1990
39
Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters. (3219207)
1988
40
Idiopathic arterial calcification of infancy. (3699816)
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:

5
id Gene Variation 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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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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Pathways related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5FGF23, GALNT3
2
Show member pathways
9.5ENPP1, NT5E

GO Terms for genes affiliated with Arterial Calcification of Infancy

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

idNameGO IDScoreTop Affiliating Genes
1phosphate-containing compound metabolic processGO:000679610.0ENPP1, FGF23
2cellular phosphate ion homeostasisGO:00306439.9ENPP1, FGF23
3regulation of bone mineralizationGO:00305009.7ENPP1, FGF23
4fibroblast growth factor receptor signaling pathwayGO:00085439.4FGF23, GALNT3

Sources for Arterial Calcification of Infancy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet