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MCID: ART035
MIFTS: 38

Arterial Calcification of Infancy

Categories: Rare diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Arterial Calcification of Infancy

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MalaCards integrated aliases for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 12 76 53 29 6 15 73
Generalized Arterial Calcification of Infancy 12 24 25 59 37
Idiopathic Infantile Arterial Calcification 12 24 53 25 59
Occlusive Infantile Arteriopathy 53 25 59
Iiac 24 53 25
Idiopathic Obliterative Arteriopathy 25 59
Infantile Arteriosclerosis 12 59
Gaci 24 25
Diffuse Arterial Calcifying Elastopathy of Infancy 25
Generalized Arterial Calcification in Infancy 53
Medial Coronary Sclerosis of Infancy 25
Arteriopathia Calcificans Infantum 25
Infantile Calcifying Arteriopathy 25

Characteristics:

Orphanet epidemiological data:

59
generalized arterial calcification of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare circulatory system diseases


External Ids:

Disease Ontology 12 DOID:0050644
Orphanet 59 ORPHA51608
MESH via Orphanet 45 C537440
UMLS via Orphanet 74 C0264955 C1859727
ICD10 via Orphanet 34 Q28.8
KEGG 37 H01002
UMLS 73 C1859727
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Summaries for Arterial Calcification of Infancy

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 51608Disease definitionIdiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.EpidemiologyApproximately 100 cases have been reported worldwide, with the majority of patients being Caucasians. The disease most commonly occurs in infants less than six months of age.Clinical descriptionSevere systemic hypertension, cardiomyopathy, and congestive heart failure are frequent complications. Associated anomalies are rare, and include non-specified cardiac anomalies, hydronephrosis, polycystic kidneys, trisomy 17 and 18. 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. The arterial lesions are widespread, but the resultant luminal narrowing invariably leads to coronary arterial occlusion and myocardial ischemia.EtiologyThe etiology is not completely understood. There is evidence of familial clusters. Recently, the disease has been found with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1.Diagnostic methodsClinical diagnosis is feasible with radiologic studies, including angiography, or computerized tomographic scans of arteries of the head, neck, and extremities.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, and infections. The disease should also be added to the list of differential diagnoses for non-immune fetal hydrops.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 counselingAs an autosomal recessive inheritance is suggested, consanguinity increases the risk of developing the disease.Management and treatmentThere is no specific treatment for this disease.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.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 hypophosphatemic rickets, x-linked recessive. 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 heart, skin and kidney, 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.

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).

Wikipedia : 76 Generalized Arterial Calcification of Infancy (GACI) also known as Idiopathic Infantile Arterial... more...

GeneReviews: NBK253403
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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 36)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.2 ABCC6 ENPP1
2 hypophosphatemic rickets, x-linked recessive 29.5 ENPP1 FGF23 PHEX
3 rickets 29.4 ENPP1 FGF23 PHEX
4 autosomal recessive hypophosphatemic rickets 29.3 ENPP1 FGF23 PHEX
5 hypophosphatemia 29.2 ENPP1 FGF23 PHEX
6 arterial calcification, generalized, of infancy, 1 11.9
7 arterial calcification, generalized, of infancy, 2 11.9
8 calcification of joints and arteries 11.0
9 monckeberg arteriosclerosis 11.0
10 hypophosphatasia 10.2 ENPP1 PHEX
11 angioid streaks 10.2 ABCC6 GALNT3
12 opsismodysplasia 10.2 FGF23 PHEX
13 optic disk drusen 10.2 ABCC6 GALNT3
14 enthesopathy 10.1 FGF23 PHEX
15 oncogenic osteomalacia 10.1 FGF23 PHEX
16 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1 FGF23 GALNT3
17 hypervitaminosis d 10.1 FGF23 GALNT3
18 hypophosphatemic rickets, x-linked dominant 10.1 FGF23 PHEX
19 bone remodeling disease 10.0 FGF23 PHEX
20 osteomalacia 10.0 FGF23 PHEX
21 lacrimoauriculodentodigital syndrome 10.0 FGF23 GALNT3
22 polycystic kidney disease 1 with or without polycystic liver disease 9.9 ACE ENPP1
23 peritonitis 9.9
24 hyperostosis 9.8 FGF23 GALNT3
25 cervicitis 9.7
26 calciphylaxis 9.7 FGF23 NT5E
27 hyperparathyroidism 9.7 FGF23 PHEX
28 urinary system disease 9.7 ACE FGF23
29 familial tumoral calcinosis 9.6 FGF23 GALNT3 PHEX
30 hypophosphatemic rickets, autosomal dominant 9.6 FGF23 GALNT3 PHEX
31 phosphorus metabolism disease 9.6 FGF23 GALNT3 PHEX
32 mineral metabolism disease 9.6 FGF23 GALNT3 PHEX
33 hyperphosphatemia 9.6 FGF23 GALNT3 PHEX
34 autosomal dominant polycystic kidney disease 9.2 ACE FGF23
35 hypophosphatemic rickets with hypercalciuria, hereditary 9.2 ENPP1 FGF23 GALNT3 PHEX
36 calcinosis 9.2 ENPP1 FGF23 GALNT3 PHEX

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



Diseases related to Arterial Calcification of Infancy
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Symptoms & Phenotypes for Arterial Calcification of Infancy

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E
2 homeostasis/metabolism MP:0005376 9.5 ABCC6 ACE ENPP1 FGF23 GALNT3 NT5E
3 renal/urinary system MP:0005367 9.17 ACE ENPP1 FGF23 GALNT3 NT5E PHEX
Sources

Drugs & Therapeutics for Arterial Calcification of Infancy

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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

Search NIH Clinical Center for Arterial Calcification of Infancy

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Genetic Tests for Arterial Calcification of Infancy

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Genetic tests related to Arterial Calcification of Infancy:

# Genetic test Affiliating Genes
1 Arterial Calcification of Infancy 29 ENPP1
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Anatomical Context for Arterial Calcification of Infancy

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MalaCards organs/tissues related to Arterial Calcification of Infancy:

41
Heart, Skin, Kidney, Bone, Testes
Sources

Publications for Arterial Calcification of Infancy

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Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 71)
# Title Authors Year
1
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. ( 29976176 )
2018
2
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. ( 28402956 )
2017
3
Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. ( 27863377 )
2016
4
A case of idiopathic arterial calcification of infancy diagnosed at autopsy. ( 27727415 )
2016
5
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
6
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
7
Two newborn babies with generalized arterial calcification of infancy, two new mutations. ( 28276217 )
2016
8
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
9
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. ( 26624227 )
2015
10
Generalized arterial calcification of infancy--Findings at post-mortem computed tomography and autopsy. ( 26165490 )
2015
11
Effects of etidronate on the Enpp1a8>/a8> mouse model of generalized arterial calcification of infancy. ( 25975272 )
2015
12
Idiopathic Arterial Calcification of Infancy: Case Report. ( 27252793 )
2015
13
Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. ( 24420383 )
2014
14
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
15
Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE). ( 24906371 )
2014
16
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy. ( 25367056 )
2014
17
Bisphosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy. ( 22705125 )
2013
18
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. ( 24008425 )
2013
19
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. ( 23798568 )
2013
20
Idiopathic arterial calcification of infancy- peritoneal dialysis for treatment of hypertension. ( 23883336 )
2013
21
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. ( 22972716 )
2013
22
Generalized arterial calcification of infancy. ( 23245193 )
2013
23
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. ( 22209248 )
2012
24
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
25
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. ( 23269929 )
2012
26
Molecular diagnosis of generalized arterial calcification of infancy (GACI). ( 22629037 )
2012
27
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. ( 21932012 )
2011
28
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. ( 23430823 )
2011
29
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. ( 20137773 )
2010
30
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. ( 20034067 )
2010
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
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. ( 19206175 )
2009
34
Generalized arterial calcification of infancy: treatment with bisphosphonates. ( 19229237 )
2009
35
Clinical images: Joint involvement in idiopathic arterial calcification of infancy. ( 19479833 )
2009
36
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. ( 18842162 )
2008
37
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. ( 20016754 )
2008
38
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. ( 18482240 )
2008
39
Generalized arterial calcification of infancy: two siblings with prolonged survival. ( 16315058 )
2006
40
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. ( 15940697 )
2005
41
New findings in idiopathic arterial calcification of infancy detected by MDCT. ( 16037532 )
2005
42
The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). ( 15605415 )
2005
43
Idiopathic arterial calcification of infancy - a case report. ( 22368635 )
2004
44
The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. ( 15131931 )
2004
45
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. ( 11178681 )
2001
46
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. ( 9545482 )
1998
47
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. ( 8960499 )
1997
48
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. ( 9213337 )
1997
49
Pathological case of the month. Idiopathic arterial calcification of infancy. ( 8541993 )
1996
50
Idiopathic arterial calcification of infancy: a case report. ( 7658182 )
1995
Sources

Variations for Arterial Calcification of Infancy

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ClinVar genetic disease variations for Arterial Calcification of Infancy:

6
(show top 50) (show all 257)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh37 Chromosome 6, 132211550: 132211550
2 ENPP1 NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh38 Chromosome 6, 131890410: 131890410
3 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh37 Chromosome 6, 132185692: 132185702
4 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh38 Chromosome 6, 131864552: 131864562
5 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh37 Chromosome 6, 132198145: 132198145
6 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh38 Chromosome 6, 131877005: 131877005
7 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh37 Chromosome 6, 132182844: 132182844
8 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh38 Chromosome 6, 131861704: 131861704
9 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh37 Chromosome 6, 132186026: 132186026
10 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh38 Chromosome 6, 131864886: 131864886
11 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
12 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh38 Chromosome 6, 131860388: 131860388
13 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh37 Chromosome 6, 132179875: 132179875
14 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh38 Chromosome 6, 131858735: 131858735
15 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
16 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh37 Chromosome 6, 132195454: 132195454
17 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh38 Chromosome 6, 131874314: 131874314
18 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh38 Chromosome 6, 131858748: 131858748
19 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh37 Chromosome 6, 132179888: 132179888
20 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh38 Chromosome 6, 131877099: 131877099
21 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh37 Chromosome 6, 132198239: 132198239
22 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh38 Chromosome 6, 131879936: 131879936
23 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh37 Chromosome 6, 132201076: 132201076
24 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh37 Chromosome 6, 132211530: 132211530
25 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh38 Chromosome 6, 131890390: 131890390
26 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh37 Chromosome 6, 132198164: 132198164
27 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh38 Chromosome 6, 131877024: 131877024
28 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh37 Chromosome 6, 132206094: 132206094
29 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh38 Chromosome 6, 131884954: 131884954
30 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh37 Chromosome 6, 132129163: 132129163
31 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh38 Chromosome 6, 131808023: 131808023
32 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh37 Chromosome 6, 132168996: 132168997
33 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh38 Chromosome 6, 131847856: 131847857
34 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh37 Chromosome 6, 132168997: 132168998
35 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh38 Chromosome 6, 131847857: 131847858
36 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh37 Chromosome 6, 132168998: 132168998
37 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh38 Chromosome 6, 131847858: 131847858
38 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169029: 132169034
39 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847889: 131847894
40 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh37 Chromosome 6, 132181533: 132181533
41 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh38 Chromosome 6, 131860393: 131860393
42 ENPP1 NM_006208.2(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh37 Chromosome 6, 132190553: 132190553
43 ENPP1 NM_006208.2(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh38 Chromosome 6, 131869413: 131869413
44 ENPP1 NM_006208.2(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh37 Chromosome 6, 132201163: 132201163
45 ENPP1 NM_006208.2(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh38 Chromosome 6, 131880023: 131880023
46 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh37 Chromosome 6, 132203474: 132203474
47 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh38 Chromosome 6, 131882334: 131882334
48 ENPP1 NM_006208.2(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh38 Chromosome 6, 131882487: 131882487
49 ENPP1 NM_006208.2(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh37 Chromosome 6, 132203627: 132203627
50 ENPP1 NM_006208.2(ENPP1): c.2661A> G (p.Ala887=) single nucleotide variant Likely benign rs1804025 GRCh38 Chromosome 6, 131890394: 131890394
Sources

Expression for Arterial Calcification of Infancy

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

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Pathways related to Arterial Calcification of Infancy according to KEGG:

37
# 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

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

# Super pathways Score Top Affiliating Genes
1
FGFR3 mutant receptor activation 66
Show member pathways
 10.39 FGF23 GALNT3
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GO Terms for Arterial Calcification of Infancy

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGF23 GALNT3
2 biomineral tissue development GO:0031214 9.4 ENPP1 PHEX
3 phosphate-containing compound metabolic process GO:0006796 9.37 ENPP1 FGF23
4 regulation of bone mineralization GO:0030500 9.32 ENPP1 FGF23
5 cellular response to vitamin D GO:0071305 9.26 FGF23 PHEX
6 cellular response to parathyroid hormone stimulus GO:0071374 9.16 FGF23 PHEX
7 cellular phosphate ion homeostasis GO:0030643 8.96 ENPP1 FGF23
8 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX
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Sources for Arterial Calcification of Infancy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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