MCID: ART035
MIFTS: 39

Arterial Calcification of Infancy malady

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arterial Calcification of Infancy

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050644
Orphanet51 51608
UMLS via Orphanet66 C0264955, C1859727
ICD10 via Orphanet28 Q28.8
MESH via Orphanet37 C537440
UMLS65 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 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), and among its related pathways are Endochondral Ossification and NAD metabolism. Affiliated tissues include heart, skin and thyroid, and related mouse phenotypes are renal/urinary system 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.

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 top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1arterial calcification, generalized, of infancy, 212.2
2arterial calcification, generalized, of infancy, 112.1
3calcification of joints and arteries10.4
4adult respiratory distress syndrome10.3
5lissencephaly 410.3ABCC6, ENPP1
6ovarian cancer10.2
7hypoxia10.2
8autosomal recessive cerebellar ataxia10.2ENPP1, FGF23
9proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2ENPP1, FGF23
10primary bacterial infectious disease10.1ENPP1, FGF23
11systemic lupus erythematosus10.1
12lung cancer10.1
13hepatocellular carcinoma10.1
14obesity10.1
15achondroplasia10.1
16beckwith-wiedemann syndrome10.1
17pleuropulmonary blastoma10.1
18prolidase deficiency10.1
19thrombocytopenia10.1
20lymphoma10.1
21blastoma10.1
22endocarditis10.1
23western equine encephalitis10.1
24kyasanur forest disease10.1
25cardiac tamponade10.1
26trigeminal neuralgia10.1
27quadriplegia10.1
28tuberous sclerosis10.1
29pericarditis10.1
30arteriosclerosis10.1
31splenic abscess10.1
32astrocytoma10.1
33acanthosis nigricans10.1
34cerebritis10.1
35aortic aneurysm10.1
36subependymal giant cell astrocytoma10.1
37thyroiditis10.1
38abdominal aortic aneurysm10.1
39herpes zoster10.1
40neurofibromatosis10.1
41lupus erythematosus10.1
42encephalitis10.1
43chronic graft versus host disease10.1
44gigantism10.1
45heparin-induced thrombocytopenia10.1
46herpes zoster ophthalmicus10.1
47pulmonary atresia with intact ventricular septum10.1
48aneurysm10.1
49skin sarcoidosis10.0ABCC6, GALNT3
50ossifying fibroma10.0ACE, FGF23

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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Anatomical Context for Arterial Calcification of Infancy

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MalaCards organs/tissues related to Arterial Calcification of Infancy:

33
Heart, Skin, Thyroid, Liver, Neutrophil, Endothelial, B cells

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:00053676.7ABCC6, ACE, ENPP1, FGF23, GALNT3, MGP
2MP:00053856.7ABCC6, ACE, ENPP1, FGF23, GALNT3, MGP
3MP:00053766.4ABCC6, ACE, ENPP1, FGF23, GALNT3, MGP

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
Adult-onset central nervous system hemophagocytic lymphohistiocytosis: a case report. (26467435)
2015
2
Reduction of experimental cerebral malaria and its related proinflammatory responses by the novel liposome-based I^-methasone nanodrug. (25126550)
2014
3
Consistency of the key genotypes of Orientia tsutsugamushi in scrub typhus patients, rodents, and chiggers from a new endemic focus of northern China. (23760611)
2013
4
Managing comorbid complications in patients with common variable immunodeficiency. (24267402)
2013
5
Selective endoscopic treatment of the non-refluxing contralateral ureter prevents new contralateral vesicoureteral reflux. (22177779)
2013
6
Human rhinovirus, wheezing illness, and the primary prevention of childhood asthma. (24289772)
2013
7
Cervical intramedullary conglomerate tuberculomas with tuberculous meningitis--rapid response to medical therapy. (22824668)
2012
8
Headache after substance abuse: a diagnostic dilemma. (22245279)
2012
9
Microvascular decompression for trigeminal neuralgia. (20653391)
2011
10
Decreased active, total and altered active to total ghrelin ratio in normal weight women with the more severe form of polycystic ovary syndrome. (20096985)
2010
11
Effects of cefaclor on gastric emptying and cholecystokinin release in healthy humans. (19914303)
2010
12
Correlation of vascular endothelial growth factor with chemokines in the vitreous in diabetic retinopathy. (20142713)
2010
13
Cardiovascular control during sleep in infants: Implications for Sudden Infant Death Syndrome. (20609624)
2010
14
A multi-centre dose-escalation and pharmacokinetic study of diflomotecan in patients with advanced malignancy. (18654747)
2009
15
Juvenile conjunctival nevus: clinicopathologic analysis of 33 cases. (18300811)
2008
16
Association of hyperhomocysteinemia and folate deficiency with colon tumors in patients with inflammatory bowel disease. (17941074)
2008
17
Elevated expression of the miR-17-92 polycistron and miR-21 in hepadnavirus-associated hepatocellular carcinoma contributes to the malignant phenotype. (18688024)
2008
18
The tetraspanin CD63 is involved in granule targeting of neutrophil elastase. (18669870)
2008
19
Gene symbol: ABCA4. Disease: Macular dystrophy. (20960628)
2008
20
Complex effects of IL1A polymorphism and calpain inhibitors on interleukin 1 alpha (IL-1 alpha) mRNA levels and secretion of IL-1 alpha protein. (18498295)
2008
21
Influence of the Angiotensin II type I receptor gene 1166A > C polymorphism on BP and aortic pulse wave velocity among Malays. (17227479)
2007
22
Thymic stromal lymphopoietin transgenic mice develop cryoglobulinemia and hepatitis with similarities to human hepatitis C liver disease. (17322382)
2007
23
Function and subcellular location of Ro52beta. (16403452)
2006
24
Ursodeoxycholic acid treatment in isolated chronic graft-vs.-host disease of the liver. (16313328)
2005
25
Evaluation of immunochemiluminometric assays for the measurement of insulin and C-peptide using the ADVIA Centaur. (15074471)
2004
26
The effects of hormones of the hypothalamo-hypophyseal-adrenal, renin-angiotensin, and thyroid hormone systems on the formation of dyscirculatory encephalopathy. (15686140)
2004
27
Association of renal adenocarcinoma and BK virus nephropathy post transplantation. (14986088)
2004
28
Increased expression of 19-kD interacting protein-3-like protein and the relationship to apoptosis in the lung of rats with severe acute pancreatitis. (14530762)
2003
29
Metabolic findings after colocystoplasty in children. (12946764)
2003
30
Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25). (12095151)
2002
31
Progesterone receptors are expressed with higher frequency by optic nerve sheath meningiomas. (11846045)
2002
32
Cockayne syndrome. (12583487)
2002
33
Increased expression and redistribution of the antiapoptotic molecule Bcl-xL in Parkinson's disease. (12079401)
2002
34
Localization of the thyroid peroxidase autoantibody immunodominant region to a junctional region containing portions of the domains homologous to complement control protein and myeloperoxidase. (12167622)
2002
35
Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation. (11346656)
2001
36
Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney. (10987279)
2000
37
Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. (9527442)
1998
38
99mTc-sestamibi is a substrate for P-glycoprotein and the multidrug resistance-associated protein. (9472628)
1998
39
Differential role of specific PKC isoforms in the proliferation of glial cells and the expression of the astrocytic markers GFAP and glutamine synthetase. (9602083)
1998
40
Cells transformed by ODC, c-Ha-ras and v-src exhibit MAP kinase/Erk-independent constitutive phosphorylation of Sos, Raf and c-Jun activation domain, and reduced PDGF receptor expression. (9365242)
1997
41
Diagnostic value of CD44 splice variants in urine exfoliated cells of bladder cancer]. (10678025)
1997
42
Esophageal candidiasis in patients infected with the human immunodeficiency virus. A decision analysis to assess cost-effectiveness of alternative management strategies. (7993154)
1994
43
Congenital heart malformation in Yunis-VarA^n syndrome. (8411078)
1993
44
Unusual charge configurations in transcription factors of the basic RNA polymerase II initiation complex. (8516305)
1993
45
Methods for measuring plasma hemoglobin in micromolar concentration compared. (1733585)
1992
46
Footprinting studies of DNA-sequence recognition by nogalamycin. (1396706)
1992
47
Molecular cloning and characterization of ovine IL-1 alpha and IL-1 beta. (1769692)
1991
48
Gastric adenocarcinoma or linitis plastica in a dog. (4486933)
1973
49
Severe vinblastine-induced leukopenia during late pregnancy with delivery of a normal infant. (5673176)
1968
50
Pyridoxine deficiency in dogs as affected by level of dietary protein. (20996496)
1946

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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GO Terms for genes affiliated with Arterial Calcification of Infancy

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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