MCID: ART035
MIFTS: 39

Arterial Calcification of Infancy malady

Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Arterial Calcification of Infancy

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 24GTR, 65UMLS, 21GeneReviews, 23Genetics Home Reference, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 10 45 12 24 65
Idiopathic Infantile Arterial Calcification 10 21 45 23 51
Generalized Arterial Calcification of Infancy 10 21 23 51
Occlusive Infantile Arteriopathy 45 23 51
Iiac 21 45 23
Idiopathic Obliterative Arteriopathy 23 51
Infantile Arteriosclerosis 10 51
 
Gaci 21 23
Diffuse Arterial Calcifying Elastopathy of Infancy 23
Generalized Arterial Calcification in Infancy 45
Medial Coronary Sclerosis of Infancy 23
Arteriopathia Calcificans Infantum 23
Infantile Calcifying Arteriopathy 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
idiopathic infantile arterial calcification:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0050644
Orphanet51 51608
ICD10 via Orphanet28 Q28.8
MESH via Orphanet37 C537440
UMLS via Orphanet66 C0264955, C1859727

Summaries for Arterial Calcification of Infancy

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Genetics Home Reference:23 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 pseudoxanthoma elasticum and arterial calcification, generalized, of infancy, 1. An important gene associated with Arterial Calcification of Infancy is ABCC6 (ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6), and among its related pathways is NAD metabolism. Affiliated tissues include skin, heart and testes, and related mouse phenotypes are other and cardiovascular system.

Disease Ontology:10 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:68 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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Diseases related to Arterial Calcification of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoxanthoma elasticum10.6
2arterial calcification, generalized, of infancy, 110.5
3arterial calcification, generalized, of infancy, 210.4
4peritonitis10.3
5hydrops fetalis10.3
6calcification of joints and arteries10.2
7hypophosphatemic rickets10.2
8rickets10.2
9hypophosphatemia10.2
10cervicitis10.2
11autosomal recessive hypophosphatemic rickets10.2
12type i ehlers-danlos syndrome10.1ABCC6, GALNT3
13hypervitaminosis a10.1FGF23, GALNT3
14cascade stomach10.1ABCC6, GALNT3
15tumoral calcinosis, hyperphosphatemic, familial10.1FGF23, GALNT3
16opsismodysplasia10.1FGF23, PHEX
17candidiasis10.1FGF23, GALNT3
18hypophosphatemic rickets, autosomal dominant10.0FGF23, PHEX
19intracranial liposarcoma10.0ENPP1, PHEX
20onychocytic matricoma10.0FGF23, PHEX
21loeys-dietz syndrome10.0FGF23, GALNT3
22entropion10.0FGF23, PHEX
23marcus gunn phenomenon10.0FGF23, PHEX
24ladd syndrome10.0FGF23, GALNT3
25pseudoxanthoma elasticum, forme fruste10.0ABCC6, ENPP1
26metaphyseal dysplasia10.0FGF23, PHEX
27hyperparathyroidism10.0FGF23, GALNT3
28neuroectodermal tumor10.0FGF23, PHEX
29chronic lymphocytic leukemia10.0ACE, FGF23
30urinary tract obstruction10.0ACE, FGF23
31idiopathic panuveitis9.9ENPP1, FGF23, PHEX
32proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis9.9ENPP1, FGF23, PHEX
33glycogen storage disease, type ixa19.9ENPP1, FGF23, PHEX
34pediatric intraocular retinoblastoma9.9ENPP1, FGF23, PHEX
35croup9.9ENPP1, FGF23, PHEX
36acquired polycythemia9.9ENPP1, FGF23, PHEX
37familial visceral myopathy with external ophthalmoplegia9.9FGF23, GALNT3, PHEX
38focal myositis9.9FGF23, GALNT3, PHEX
39hyperpituitarism9.8FGF23, PHEX
40physical disorder9.7ENPP1, FGF23, GALNT3, PHEX
41mite infestation9.7ENPP1, FGF23, GALNT3, PHEX
42calcium metabolism disease9.7ENPP1, FGF23, GALNT3, PHEX
43rh deficiency syndrome9.0ABCC6, 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 Infancy24

Anatomical Context for Arterial Calcification of Infancy

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MalaCards organs/tissues related to Arterial Calcification of Infancy:

33
Skin, Heart, Testes, Bone

Animal Models for Arterial Calcification of Infancy or affiliated genes

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MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.7ABCC6, ENPP1, GALNT3, PHEX
2MP:00053857.2ABCC6, ACE, ENPP1, FGF23, GALNT3, NT5E
3MP:00053676.8ABCC6, ACE, ENPP1, FGF23, GALNT3, NT5E
4MP:00053766.7ABCC6, 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 62)
idTitleAuthorsYear
1
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. (25975272)
2015
2
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. (26165490)
2015
3
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
4
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. (25367056)
2014
5
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
6
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
7
Generalized arterial calcification of infancy. (23245193)
2013
8
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
9
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
10
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
11
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
12
Molecular diagnosis of generalized arterial calcification of infancy (GACI). (22629037)
2012
13
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
14
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (23430823)
2011
15
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (20034067)
2010
16
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
17
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. (19206175)
2009
18
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. (19479833)
2009
19
Generalized arterial calcification of infancy: treatment with bisphosphonates. (19229237)
2009
20
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
21
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. (18842162)
2008
22
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. (18482240)
2008
23
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
24
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
25
New findings in idiopathic arterial calcification of infancy detected by MDCT. (16037532)
2005
26
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. (15131931)
2004
27
Idiopathic arterial calcification of infancy - a case report. (22368635)
2004
28
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. (11178681)
2001
29
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. (9213337)
1997
30
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. (8960499)
1997
31
Pathological case of the month. Idiopathic arterial calcification of infancy. (8541993)
1996
32
Idiopathic arterial calcification of infancy: a case report. (7658182)
1995
33
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. (8391568)
1993
34
Idiopathic arterial calcification of infancy: genetic studies. (8496778)
1993
35
Generalized Arterial Calcification of Infancy (25392903)
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
Sonographic recognition of idiopathic arterial calcification of infancy. (3510511)
1986
42
Arteritis or idiopathic arterial calcification of infancy. (4054901)
1985
43
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. (6747757)
1984
44
Generalized arterial calcification of infancy in twins. (7139116)
1982
45
Idiopathic arterial calcification of infancy. (482993)
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 (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, 16313435: 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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Pathways related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2ENPP1, 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
1regulation of bone mineralizationGO:00305009.6ENPP1, FGF23
2cellular phosphate ion homeostasisGO:00306439.5ENPP1, FGF23
3phosphate-containing compound metabolic processGO:00067969.3ENPP1, FGF23

Sources for Arterial Calcification of Infancy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet