GACI
MCID: ART035
MIFTS: 37

Arterial Calcification of Infancy (GACI) malady

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arterial Calcification of Infancy

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 11 48 27 13 68
Idiopathic Infantile Arterial Calcification 11 23 48 25 54
Generalized Arterial Calcification of Infancy 11 23 25 54
Occlusive Infantile Arteriopathy 48 25 54
Iiac 23 48 25
Idiopathic Obliterative Arteriopathy 25 54
Infantile Arteriosclerosis 11 54
 
Gaci 23 25
Diffuse Arterial Calcifying Elastopathy of Infancy 25
Generalized Arterial Calcification in Infancy 48
Medial Coronary Sclerosis of Infancy 25
Arteriopathia Calcificans Infantum 25
Infantile Calcifying Arteriopathy 25

Characteristics:

Orphanet epidemiological data:

54
idiopathic infantile arterial calcification:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050644
Orphanet54 ORPHA51608
MESH via Orphanet40 C537440
UMLS via Orphanet69 C0264955, C1859727
ICD10 via Orphanet31 Q28.8

Summaries for Arterial Calcification of Infancy

About this section
Genetics Home Reference:25 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 ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). Affiliated tissues include skin, heart and bone, and related mouse phenotypes are Decreased melanin production and cardiovascular system.

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 for NBK253403

Related Diseases for Arterial Calcification of Infancy

About this section

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1arterial calcification, generalized, of infancy, 232.8ABCC6, ENPP1
2arterial calcification, generalized, of infancy, 111.8
3calcification of joints and arteries10.9
4desbuquois dysplasia 210.2ABCC6, ENPP1
5wiedemann-steiner syndrome10.1FGF23, PHEX
6lymphangioleiomyomatosis10.1FGF23, PHEX
7acute maxillary sinusitis10.1FGF23, PHEX
8opthalmoplegia mental retardation lingua scrotalis10.1FGF23, PHEX
9peroxisome biogenesis disorder 2b10.1FGF23, PHEX
10feigenbaum bergeron richardson syndrome10.1FGF23, PHEX
11maroteaux stanescu cousin syndrome10.1FGF23, PHEX
12coffin-lowry syndrome10.1FGF23, PHEX
13pseudoxanthoma elasticum10.1
14gastric antral vascular ectasia10.1FGF23, PHEX
15pre-eclampsia10.0FGF23, PHEX
16indian tick typhus10.0FGF23, PHEX
17ischemic bone disease10.0FGF23, PHEX
18gastrointestinal lymphoma10.0ACE, ENPP1
19x-linked hereditary ataxia10.0ENPP1, FGF23, PHEX
20prostate cancer, hereditary, x-linked 210.0ENPP1, FGF23, PHEX
21opportunistic bacterial infectious disease10.0ENPP1, FGF23, PHEX
22childhood absence epilepsy10.0ENPP1, FGF23, PHEX
23allergic urticaria10.0ENPP1, FGF23, PHEX
24subserous uterine fibroid9.9FGF23, PHEX
25chronic myocardial ischemia9.9ACE, FGF23
26lung giant cell carcinoma9.9ACE, ENPP1, FGF23
27calcinosis9.8ACE, FGF23
28hypophosphatemic rickets9.8
29rickets9.8
30peritonitis9.8
31cole disease9.7ABCC6, ENPP1, NT5E, SUOX
32hypophosphatemia9.7
33autosomal recessive hypophosphatemic rickets9.7
34cervicitis9.7
35familial atrial fibrillation9.1ABCC6, ACE, ENPP1, FGF23, NT5E, PHEX

Graphical network of the top 20 diseases related to Arterial Calcification of Infancy:



Diseases related to arterial calcification of infancy

Symptoms & Phenotypes for Arterial Calcification of Infancy

About this section

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00056-A10.0FGF23, NT5E

MGI Mouse Phenotypes related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6ABCC6, ACE, ENPP1, FGF23, NT5E
2MP:00053768.0ABCC6, ACE, ENPP1, FGF23, NT5E, PHEX
3MP:00053677.3ABCC6, ACE, ENPP1, FGF23, NT5E, PHEX

Drugs & Therapeutics for Arterial Calcification of Infancy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Arterial Calcification of Infancy

Genetic Tests for Arterial Calcification of Infancy

About this section

Genetic tests related to Arterial Calcification of Infancy:

id Genetic test Affiliating Genes
1 Arterial Calcification of Infancy27

Anatomical Context for Arterial Calcification of Infancy

About this section

MalaCards organs/tissues related to Arterial Calcification of Infancy:

36
Skin, Heart, Bone, Testes

Publications for Arterial Calcification of Infancy

About this section

Articles related to Arterial Calcification of Infancy:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. (26857895)
2016
2
Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. (27863377)
2016
3
A case of idiopathic arterial calcification of infancy diagnosed at autopsy. (27727415)
2016
4
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. (26763447)
2016
5
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
6
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. (26624227)
2015
7
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. (25975272)
2015
8
Idiopathic Arterial Calcification of Infancy: Case Report. (27252793)
2015
9
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. (26165490)
2015
10
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. (25367056)
2014
11
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
12
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). (24906371)
2014
13
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. (24420383)
2014
14
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. (22972716)
2013
15
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. (22705125)
2013
16
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. (23798568)
2013
17
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. (24008425)
2013
18
Generalized arterial calcification of infancy. (23245193)
2013
19
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. (23883336)
2013
20
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. (23269929)
2012
21
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
22
Molecular diagnosis of generalized arterial calcification of infancy (GACI). (22629037)
2012
23
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (22209248)
2012
24
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. (23430823)
2011
25
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. (21932012)
2011
26
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
27
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (20034067)
2010
28
Generalized arterial calcification of infancy: treatment with bisphosphonates. (19229237)
2009
29
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. (19206175)
2009
30
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. (19479833)
2009
31
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. (19452427)
2009
32
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
33
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. (20016754)
2008
34
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. (18842162)
2008
35
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. (18482240)
2008
36
Generalized arterial calcification of infancy: two siblings with prolonged survival. (16315058)
2006
37
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). (15605415)
2005
38
New findings in idiopathic arterial calcification of infancy detected by MDCT. (16037532)
2005
39
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. (15940697)
2005
40
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. (15131931)
2004
41
Idiopathic arterial calcification of infancy - a case report. (22368635)
2004
42
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. (11178681)
2001
43
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. (9545482)
1998
44
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. (8960499)
1997
45
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. (9213337)
1997
46
Pathological case of the month. Idiopathic arterial calcification of infancy. (8541993)
1996
47
Idiopathic arterial calcification of infancy: a case report. (7658182)
1995
48
Idiopathic arterial calcification of infancy: genetic studies. (8496778)
1993
49
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. (8391568)
1993
50
Generalized Arterial Calcification of Infancy (25392903)
1993

Variations for Arterial Calcification of Infancy

About this section

Expression for genes affiliated with Arterial Calcification of Infancy

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

Pathways for genes affiliated with Arterial Calcification of Infancy

About this section

GO Terms for genes affiliated with Arterial Calcification of Infancy

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:003064310.1ENPP1, FGF23
2biomineral tissue developmentGO:003121410.1ENPP1, PHEX
3phosphate-containing compound metabolic processGO:000679610.0ENPP1, FGF23
4cellular response to parathyroid hormone stimulusGO:007137410.0FGF23, PHEX
5cellular response to vitamin DGO:00713059.9FGF23, PHEX
6regulation of bone mineralizationGO:00305009.6ENPP1, FGF23
7response to sodium phosphateGO:19043839.5FGF23, PHEX

Sources for Arterial Calcification of Infancy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet