MCID: ART035
MIFTS: 38

Arterial Calcification of Infancy

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Arterial Calcification of Infancy

MalaCards integrated aliases for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 12 77 54 30 6 45 15 74
Generalized Arterial Calcification of Infancy 12 25 26 60 38
Idiopathic Infantile Arterial Calcification 12 25 54 26 60
Occlusive Infantile Arteriopathy 54 26 60
Iiac 25 54 26
Idiopathic Obliterative Arteriopathy 26 60
Infantile Arteriosclerosis 12 60
Gaci 25 26
Diffuse Arterial Calcifying Elastopathy of Infancy 26
Generalized Arterial Calcification in Infancy 54
Medial Coronary Sclerosis of Infancy 26
Arteriopathia Calcificans Infantum 26
Infantile Calcifying Arteriopathy 26

Characteristics:

Orphanet epidemiological data:

60
generalized arterial calcification of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050644
KEGG 38 H01002
MeSH 45 C537440
MESH via Orphanet 46 C537440
ICD10 via Orphanet 35 Q28.8
UMLS via Orphanet 75 C0264955 C1859727
Orphanet 60 ORPHA51608
UMLS 74 C1859727

Summaries for Arterial Calcification of Infancy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 51608Disease definitionA rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.EpidemiologyApproximately 300 cases have been reported worldwide in the medical literature. Based on carrier frequency of the recognized pathogenic variants, the worldwide prevalence is estimated at 1/566,000.Clinical descriptionDisease onset is either early (in utero to within the first week of life) or late (median age three months). Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. Additional findings can include extravascular calcifications (particularly periarticular), typical skin and retinal manifestations of pseudoxanthoma elasticum, hearing loss, and development of rickets after infancy. Pathologically, the condition is characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima, which causes luminal narrowing.EtiologyCausal mutations have been identified in the genesENPP1 (chromosome 6q23.2) and ABCC6 (chromosome 16.13.11) respectively encoding ectonucleotide pyrophosphatase/ phosphodiesterase 1 and multidrug resistance-associated protein 6, a transmembrane protein belonging to the family of ATP-binding cassette (ABC) transport proteins. Pathological variants lead to aberrant tissue mineralization, and the subsequent luminal narrowing invariably leads to coronary arterial occlusion and myocardial ischemia or stenoses of different arteries leading to end-organ damage. ENPP1 mutations also cause autosomal recessive hypophosphatemic rickets, which is associated with longer survival.Diagnostic methodsDiagnosis of is made by the combination of clinical, imaging or histopathological findings, together with genetic results. The preferred imaging modality to assess calcifications extension is whole-body computed tomography combined with CT angiography.Differential diagnosisDifferential diagnosis includes endocardial fibroelastosis, myocardititis, storage disorders, infarction, anomalous insertion of the coronary arteries, cardiac anomalies, metastatic calcification due to renal disease, hypervitaminosis D, infections, and non-immune fetal hydrops, Takayasu arteriitis.Antenatal diagnosisAntenatal diagnosis has been reported, with findings of arterial calcifications, hydrops, abnormal cardiac contractility, and hyperechoic kidneys. The diagnosis is essential for genetic counseling, and for screening of siblings at risk for developing the disease.Genetic counselingThe pattern of inheritance is autosomal recessive. The sibling-recurrence risk is 25%. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known.Management and treatmentUse of bisphosphonates appears to significantly increase survival. Standard anti-hypertensive therapy is warranted for hypertension. Aspirin therapy is warranted in those with severe coronary stenosis who are at increased risk for coronary thrombosis. Anti-hypertensive therapy is warranted for hypertension. Treatment of hypophosphatemic rickets involves calcitriol and oral phosphate supplements. It seems prudent to avoid the use of warfarin if possible. Where endotracheal intubation is required, lateral cervical spine x-ray is recommended to evaluate for cervical spine fusion, and thereby avoid secondary complications.PrognosisPrognosis is poor; most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months. Nevertheless, long-term survival into the second and third decade has been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Arterial Calcification of Infancy, also known as generalized arterial calcification of infancy, is related to pseudoxanthoma elasticum and rickets. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are Purine metabolism and Starch and sucrose metabolism. Affiliated tissues include skin, heart and testes, and related phenotypes are Decreased melanin production and cardiovascular system

Disease Ontology : 12 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 : 77 Generalized arterial calcification of infancy (GACI) is an extremely rare, usually fatal genetic... more...

GeneReviews: NBK253403

Related Diseases for Arterial Calcification of Infancy

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.3 ABCC6 ENPP1
2 rickets 29.9 ENPP1 FGF23 PHEX
3 hypophosphatemic rickets, x-linked recessive 29.9 ENPP1 FGF23 PHEX
4 autosomal recessive hypophosphatemic rickets 29.7 ENPP1 FGF23 PHEX
5 hypophosphatemia 29.7 ENPP1 FGF23 PHEX
6 arterial calcification, generalized, of infancy, 2 12.3
7 arterial calcification, generalized, of infancy, 1 12.2
8 calcification of joints and arteries 11.2
9 monckeberg arteriosclerosis 11.2
10 brittle bone disorder 10.5
11 col1a1/2-related osteogenesis imperfecta 10.5
12 opsismodysplasia 10.1 FGF23 PHEX
13 enthesopathy 10.1 FGF23 PHEX
14 arteriosclerosis 10.1
15 oncogenic osteomalacia 10.1 FGF23 PHEX
16 hypophosphatasia 10.1 ENPP1 PHEX
17 osteomalacia 10.1 FGF23 PHEX
18 pulmonary hypertension 10.1
19 hypophosphatemic rickets, x-linked dominant 10.1 FGF23 PHEX
20 familial tumoral calcinosis 10.1 FGF23 PHEX
21 hypophosphatemic rickets, autosomal dominant 10.1 FGF23 PHEX
22 hypercementosis 10.1
23 phosphorus metabolism disease 10.1 FGF23 PHEX
24 hepatic infarction 10.0 FGD1 PHEX
25 mineral metabolism disease 10.0 FGF23 PHEX
26 hyperphosphatemia 10.0 FGF23 PHEX
27 calciphylaxis 10.0 FGF23 NT5E
28 bone remodeling disease 10.0 FGF23 PHEX
29 lymphatic malformation 7 10.0
30 ischemia 10.0
31 chronic intestinal vascular insufficiency 10.0
32 fetal edema 10.0
33 hydrops fetalis 10.0
34 hypophosphatemic rickets with hypercalciuria, hereditary 9.9 ENPP1 FGF23 PHEX
35 calcinosis 9.9 ENPP1 FGF23 PHEX
36 urinary system disease 9.9 ACE FGF23
37 hypophosphatemic rickets, autosomal recessive, 2 9.9
38 peritonitis 9.9
39 hyperparathyroidism 9.8 FGF23 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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased melanin production GR00056-A 8.62 FGF23 NT5E

MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ABCC6 ACE ENPP1 FGF23 NT5E PHEX
2 renal/urinary system MP:0005367 9.1 ABCC6 ACE ENPP1 FGF23 NT5E PHEX

Drugs & Therapeutics for Arterial Calcification of Infancy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
2 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534

Search NIH Clinical Center for Arterial Calcification of Infancy

Cochrane evidence based reviews: arterial calcification of infancy

Genetic Tests for Arterial Calcification of Infancy

Genetic tests related to Arterial Calcification of Infancy:

# Genetic test Affiliating Genes
1 Arterial Calcification of Infancy 30 ENPP1

Anatomical Context for Arterial Calcification of Infancy

MalaCards organs/tissues related to Arterial Calcification of Infancy:

42
Skin, Heart, Testes, Kidney, Bone

Publications for Arterial Calcification of Infancy

Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 75)
# Title Authors Year
1
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. ( 29976176 )
2018
2
Coronary pathology of inherited generalized arterial calcification of infancy: a case report. ( 30005391 )
2018
3
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy. ( 30158213 )
2018
4
ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP. ( 30369595 )
2018
5
Magnesium and anti-phosphate treatment with bisphosphonates for Generalised Arterial Calcification of Infancy: a case report ( 30525344 )
2018
6
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. ( 28402956 )
2017
7
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
8
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
9
A case of idiopathic arterial calcification of infancy diagnosed at autopsy. ( 27727415 )
2016
10
Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. ( 27863377 )
2016
11
Two newborn babies with generalized arterial calcification of infancy, two new mutations. ( 28276217 )
2016
12
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. ( 24420383 )
2015
13
Effects of etidronate on the Enpp1⁻/⁻ mouse model of generalized arterial calcification of infancy. ( 25975272 )
2015
14
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. ( 26165490 )
2015
15
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. ( 26624227 )
2015
16
Idiopathic Arterial Calcification of Infancy: Case Report. ( 27252793 )
2015
17
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. ( 24008425 )
2014
18
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). ( 24906371 )
2014
19
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. ( 25367056 )
2014
20
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
21
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. ( 22705125 )
2013
22
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. ( 22972716 )
2013
23
Generalized arterial calcification of infancy. ( 23245193 )
2013
24
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. ( 23798568 )
2013
25
Idiopathic arterial calcification of infancy-- peritoneal dialysis for treatment of hypertension. ( 23883336 )
2013
26
Molecular diagnosis of generalized arterial calcification of infancy (GACI). ( 22629037 )
2012
27
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. ( 23269929 )
2012
28
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. ( 22209248 )
2012
29
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
30
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. ( 21932012 )
2011
31
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. ( 23430823 )
2011
32
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. ( 20034067 )
2010
33
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. ( 20137773 )
2010
34
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. ( 19206175 )
2009
35
Generalized arterial calcification of infancy: treatment with bisphosphonates. ( 19229237 )
2009
36
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. ( 19452427 )
2009
37
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. ( 19479833 )
2009
38
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
39
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. ( 18482240 )
2008
40
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. ( 18842162 )
2008
41
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. ( 20016754 )
2008
42
Generalized arterial calcification of infancy: two siblings with prolonged survival. ( 16315058 )
2006
43
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). ( 15605415 )
2005
44
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. ( 15940697 )
2005
45
New findings in idiopathic arterial calcification of infancy detected by MDCT. ( 16037532 )
2005
46
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. ( 15131931 )
2004
47
Idiopathic arterial calcification of infancy - a case report. ( 22368635 )
2004
48
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. ( 12881724 )
2003
49
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. ( 11178681 )
2001
50
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. ( 11159191 )
2001

Variations for Arterial Calcification of Infancy

ClinVar genetic disease variations for Arterial Calcification of Infancy:

6 (show top 50) (show all 273)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NM_006208.3(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh37 Chromosome 6, 132211550: 132211550
2 ENPP1 NM_006208.3(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh38 Chromosome 6, 131890410: 131890410
3 ENPP1 NM_006208.3(ENPP1): c.2320C> T (p.Arg774Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28933977 GRCh37 Chromosome 6, 132206079: 132206079
4 ENPP1 NM_006208.3(ENPP1): c.2320C> T (p.Arg774Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28933977 GRCh38 Chromosome 6, 131884939: 131884939
5 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic rs1554203715 GRCh37 Chromosome 6, 132185692: 132185702
6 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic rs1554203715 GRCh38 Chromosome 6, 131864552: 131864562
7 ENPP1 NM_006208.3(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh37 Chromosome 6, 132198145: 132198145
8 ENPP1 NM_006208.3(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh38 Chromosome 6, 131877005: 131877005
9 ENPP1 NM_006208.3(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh37 Chromosome 6, 132172368: 132172368
10 ENPP1 NM_006208.3(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh38 Chromosome 6, 131851228: 131851228
11 ENPP1 NM_006208.3(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh37 Chromosome 6, 132212694: 132212694
12 ENPP1 NM_006208.3(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh38 Chromosome 6, 131891554: 131891554
13 ENPP1 NM_006208.3(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh37 Chromosome 6, 132182844: 132182844
14 ENPP1 NM_006208.3(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh38 Chromosome 6, 131861704: 131861704
15 ENPP1 NM_006208.3(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh37 Chromosome 6, 132186026: 132186026
16 ENPP1 NM_006208.3(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh38 Chromosome 6, 131864886: 131864886
17 ENPP1 NM_006208.3(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
18 ENPP1 NM_006208.3(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh38 Chromosome 6, 131860388: 131860388
19 ENPP1 NM_006208.3(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh37 Chromosome 6, 132179875: 132179875
20 ENPP1 NM_006208.3(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh38 Chromosome 6, 131858735: 131858735
21 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
22 ENPP1 NM_006208.3(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh37 Chromosome 6, 132179888: 132179888
23 ENPP1 NM_006208.3(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 GRCh37 Chromosome 6, 132181644: 132181644
24 ENPP1 NM_006208.3(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 GRCh38 Chromosome 6, 131860504: 131860504
25 ENPP1 NM_006208.3(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh37 Chromosome 6, 132195454: 132195454
26 ENPP1 NM_006208.3(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh38 Chromosome 6, 131874314: 131874314
27 ENPP1 NM_006208.3(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh38 Chromosome 6, 131858748: 131858748
28 ENPP1 NM_006208.3(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Benign/Likely benign rs79079368 GRCh38 Chromosome 6, 131877099: 131877099
29 ENPP1 NM_006208.3(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Benign/Likely benign rs79079368 GRCh37 Chromosome 6, 132198239: 132198239
30 ENPP1 NM_006208.3(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Benign/Likely benign rs115371819 GRCh38 Chromosome 6, 131879936: 131879936
31 ENPP1 NM_006208.3(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Benign/Likely benign rs115371819 GRCh37 Chromosome 6, 132201076: 132201076
32 ENPP1 NM_006208.3(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh37 Chromosome 6, 132211530: 132211530
33 ENPP1 NM_006208.3(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh38 Chromosome 6, 131890390: 131890390
34 ENPP1 NM_006208.3(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh37 Chromosome 6, 132198164: 132198164
35 ENPP1 NM_006208.3(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh38 Chromosome 6, 131877024: 131877024
36 ENPP1 NM_006208.3(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh37 Chromosome 6, 132206094: 132206094
37 ENPP1 NM_006208.3(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh38 Chromosome 6, 131884954: 131884954
38 ENPP1 NM_006208.3(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh37 Chromosome 6, 132129163: 132129163
39 ENPP1 NM_006208.3(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh38 Chromosome 6, 131808023: 131808023
40 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh37 Chromosome 6, 132168996: 132168997
41 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh38 Chromosome 6, 131847856: 131847857
42 ENPP1 NM_006208.3(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh37 Chromosome 6, 132168997: 132168998
43 ENPP1 NM_006208.3(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh38 Chromosome 6, 131847857: 131847858
44 ENPP1 NM_006208.3(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh37 Chromosome 6, 132168998: 132168998
45 ENPP1 NM_006208.3(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh38 Chromosome 6, 131847858: 131847858
46 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169029: 132169034
47 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847889: 131847894
48 ENPP1 NM_006208.3(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh38 Chromosome 6, 131860393: 131860393
49 ENPP1 NM_006208.3(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh37 Chromosome 6, 132181533: 132181533
50 ENPP1 NM_006208.3(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh38 Chromosome 6, 131869413: 131869413

Expression for Arterial Calcification of Infancy

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

Pathways for Arterial Calcification of Infancy

Pathways related to Arterial Calcification of Infancy according to KEGG:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Starch and sucrose metabolism hsa00500
3 Riboflavin metabolism hsa00740
4 Nicotinate and nicotinamide metabolism hsa00760
5 Pantothenate and CoA biosynthesis hsa00770
6 Metabolic pathways hsa01100

GO Terms for Arterial Calcification of Infancy

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

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 9.4 ENPP1 PHEX
2 regulation of bone mineralization GO:0030500 9.37 ENPP1 FGF23
3 phosphate-containing compound metabolic process GO:0006796 9.32 ENPP1 FGF23
4 cellular response to vitamin D GO:0071305 9.26 FGF23 PHEX
5 cellular response to parathyroid hormone stimulus GO:0071374 9.16 FGF23 PHEX
6 cellular phosphate ion homeostasis GO:0030643 8.96 ENPP1 FGF23
7 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX

Molecular functions related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.1 ACE ENPP1 FGD1 NT5E PHEX SUOX

Sources for Arterial Calcification of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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