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:

(showing 39, show less)
# 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 (showing 1, show less)
# 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 (showing 2, show less)
# 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:

(showing 2, show less)
# 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:

(showing 75, show less)
# 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
51
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. ( 9545482 )
1998
52
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. ( 8960499 )
1997
53
Test and teach. Number eighty three: Part 1. Idiopathic arterial calcification of infancy. ( 9213337 )
1997
54
Pathological case of the month. Idiopathic arterial calcification of infancy. ( 8541993 )
1996
55
Idiopathic arterial calcification of infancy: a case report. ( 7658182 )
1995
56
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. ( 8391568 )
1993
57
Idiopathic arterial calcification of infancy: genetic studies. ( 8496778 )
1993
58
Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant. ( 1447660 )
1992
59
Idiopathic arterial calcification of infancy. ( 2007222 )
1991
60
Idiopathic arterial calcification of infancy: a case with prolonged survival. ( 2400650 )
1990
61
Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters. ( 3219207 )
1988
62
Sonographic recognition of idiopathic arterial calcification of infancy. ( 3510511 )
1986
63
Idiopathic arterial calcification of infancy. ( 3699816 )
1986
64
Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. ( 3839656 )
1985
65
Arteritis or idiopathic arterial calcification of infancy. ( 4054901 )
1985
66
Hypertension as the major problem of idiopathic arterial calcification of infancy. ( 6502343 )
1984
67
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. ( 6747757 )
1984
68
Generalized arterial calcification of infancy in twins. ( 7139116 )
1982
69
Idiopathic arterial calcification of infancy. ( 482993 )
1979
70
Idiopathic arterial calcification of infancy. ( 521302 )
1979
71
Idiopathic arterial calcification of infancy without intimal proliferation. ( 827091 )
1976
72
Idiopathic arterial calcification of infancy: a clinicopathologic study. ( 1101174 )
1975
73
Generalised arterial calcification of infancy. ( 5551335 )
1971
74
Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. ( 13661108 )
1959
75
Generalized arterial calcification of infancy. ( 13396267 )
1957

Variations for Arterial Calcification of Infancy

ClinVar genetic disease variations for Arterial Calcification of Infancy:

6 (showing 273, show less)
# 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
51 ENPP1 NM_006208.3(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh37 Chromosome 6, 132190553: 132190553
52 ENPP1 NM_006208.3(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh38 Chromosome 6, 131880023: 131880023
53 ENPP1 NM_006208.3(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh37 Chromosome 6, 132201163: 132201163
54 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh38 Chromosome 6, 131882334: 131882334
55 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh37 Chromosome 6, 132203474: 132203474
56 ENPP1 NM_006208.3(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh38 Chromosome 6, 131882487: 131882487
57 ENPP1 NM_006208.3(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh37 Chromosome 6, 132203627: 132203627
58 ENPP1 NM_006208.3(ENPP1): c.2661A> G (p.Ala887=) single nucleotide variant Likely benign rs1804025 GRCh38 Chromosome 6, 131890394: 131890394
59 ENPP1 NM_006208.3(ENPP1): c.2661A> G (p.Ala887=) single nucleotide variant Likely benign rs1804025 GRCh37 Chromosome 6, 132211534: 132211534
60 ENPP1 NM_006208.3(ENPP1): c.2757A> T (p.Pro919=) single nucleotide variant Uncertain significance rs73541508 GRCh38 Chromosome 6, 131890490: 131890490
61 ENPP1 NM_006208.3(ENPP1): c.2757A> T (p.Pro919=) single nucleotide variant Uncertain significance rs73541508 GRCh37 Chromosome 6, 132211630: 132211630
62 ENPP1 NM_006208.3(ENPP1): c.*121G> C single nucleotide variant Likely benign rs11964389 GRCh38 Chromosome 6, 131890632: 131890632
63 ENPP1 NM_006208.3(ENPP1): c.*121G> C single nucleotide variant Likely benign rs11964389 GRCh37 Chromosome 6, 132211772: 132211772
64 ENPP1 NM_006208.3(ENPP1): c.*459G> T single nucleotide variant Uncertain significance rs886061068 GRCh37 Chromosome 6, 132212110: 132212110
65 ENPP1 NM_006208.3(ENPP1): c.*459G> T single nucleotide variant Uncertain significance rs886061068 GRCh38 Chromosome 6, 131890970: 131890970
66 ENPP1 NM_006208.3(ENPP1): c.*1091A> C single nucleotide variant Benign rs7754586 GRCh37 Chromosome 6, 132212742: 132212742
67 ENPP1 NM_006208.3(ENPP1): c.*1091A> C single nucleotide variant Benign rs7754586 GRCh38 Chromosome 6, 131891602: 131891602
68 ENPP1 NM_006208.3(ENPP1): c.*1122A> G single nucleotide variant Uncertain significance rs148507889 GRCh37 Chromosome 6, 132212773: 132212773
69 ENPP1 NM_006208.3(ENPP1): c.*1122A> G single nucleotide variant Uncertain significance rs148507889 GRCh38 Chromosome 6, 131891633: 131891633
70 ENPP1 NM_006208.3(ENPP1): c.*1137T> C single nucleotide variant Benign rs11154648 GRCh37 Chromosome 6, 132212788: 132212788
71 ENPP1 NM_006208.3(ENPP1): c.*1137T> C single nucleotide variant Benign rs11154648 GRCh38 Chromosome 6, 131891648: 131891648
72 ENPP1 NM_006208.3(ENPP1): c.*1960C> T single nucleotide variant Uncertain significance rs538657283 GRCh38 Chromosome 6, 131892471: 131892471
73 ENPP1 NM_006208.3(ENPP1): c.*1960C> T single nucleotide variant Uncertain significance rs538657283 GRCh37 Chromosome 6, 132213611: 132213611
74 ENPP1 NM_006208.3(ENPP1): c.*2129T> C single nucleotide variant Uncertain significance rs886061075 GRCh38 Chromosome 6, 131892640: 131892640
75 ENPP1 NM_006208.3(ENPP1): c.*2129T> C single nucleotide variant Uncertain significance rs886061075 GRCh37 Chromosome 6, 132213780: 132213780
76 ENPP1 NM_006208.3(ENPP1): c.*3176T> A single nucleotide variant Likely benign rs114333444 GRCh37 Chromosome 6, 132214827: 132214827
77 ENPP1 NM_006208.3(ENPP1): c.*3176T> A single nucleotide variant Likely benign rs114333444 GRCh38 Chromosome 6, 131893687: 131893687
78 ENPP1 NM_006208.3(ENPP1): c.*3594C> T single nucleotide variant Likely benign rs140569538 GRCh37 Chromosome 6, 132215245: 132215245
79 ENPP1 NM_006208.3(ENPP1): c.*3594C> T single nucleotide variant Likely benign rs140569538 GRCh38 Chromosome 6, 131894105: 131894105
80 ENPP1 NM_006208.3(ENPP1): c.*3625G> A single nucleotide variant Likely benign rs150482147 GRCh37 Chromosome 6, 132215276: 132215276
81 ENPP1 NM_006208.3(ENPP1): c.*3625G> A single nucleotide variant Likely benign rs150482147 GRCh38 Chromosome 6, 131894136: 131894136
82 ENPP1 NM_006208.3(ENPP1): c.*3724C> T single nucleotide variant Benign rs2327154 GRCh37 Chromosome 6, 132215375: 132215375
83 ENPP1 NM_006208.3(ENPP1): c.*3724C> T single nucleotide variant Benign rs2327154 GRCh38 Chromosome 6, 131894235: 131894235
84 ENPP1 NM_006208.3(ENPP1): c.*3784T> C single nucleotide variant Likely benign rs116417632 GRCh37 Chromosome 6, 132215435: 132215435
85 ENPP1 NM_006208.3(ENPP1): c.*3784T> C single nucleotide variant Likely benign rs116417632 GRCh38 Chromosome 6, 131894295: 131894295
86 ENPP1 NM_006208.3(ENPP1): c.*3837T> C single nucleotide variant Benign rs55725924 GRCh37 Chromosome 6, 132215488: 132215488
87 ENPP1 NM_006208.3(ENPP1): c.*3837T> C single nucleotide variant Benign rs55725924 GRCh38 Chromosome 6, 131894348: 131894348
88 ENPP1 NM_006208.3(ENPP1): c.165G> A (p.Val55=) single nucleotide variant Uncertain significance rs768034745 GRCh37 Chromosome 6, 132129340: 132129340
89 ENPP1 NM_006208.3(ENPP1): c.165G> A (p.Val55=) single nucleotide variant Uncertain significance rs768034745 GRCh38 Chromosome 6, 131808200: 131808200
90 ENPP1 NM_006208.3(ENPP1): c.313+9G> T single nucleotide variant Benign rs7773477 GRCh37 Chromosome 6, 132168997: 132168997
91 ENPP1 NM_006208.3(ENPP1): c.313+9G> T single nucleotide variant Benign rs7773477 GRCh38 Chromosome 6, 131847857: 131847857
92 ENPP1 NM_006208.3(ENPP1): c.1296G> C (p.Lys432Asn) single nucleotide variant Uncertain significance rs886061066 GRCh38 Chromosome 6, 131869380: 131869380
93 ENPP1 NM_006208.3(ENPP1): c.1296G> C (p.Lys432Asn) single nucleotide variant Uncertain significance rs886061066 GRCh37 Chromosome 6, 132190520: 132190520
94 ENPP1 NM_006208.3(ENPP1): c.2106T> C (p.Ser702=) single nucleotide variant Likely benign rs7750837 GRCh38 Chromosome 6, 131882350: 131882350
95 ENPP1 NM_006208.3(ENPP1): c.2106T> C (p.Ser702=) single nucleotide variant Likely benign rs7750837 GRCh37 Chromosome 6, 132203490: 132203490
96 ENPP1 NM_006208.3(ENPP1): c.2236A> C (p.Asn746His) single nucleotide variant Uncertain significance rs144099489 GRCh38 Chromosome 6, 131883699: 131883699
97 ENPP1 NM_006208.3(ENPP1): c.2236A> C (p.Asn746His) single nucleotide variant Uncertain significance rs144099489 GRCh37 Chromosome 6, 132204839: 132204839
98 ENPP1 NM_006208.3(ENPP1): c.*96C> T single nucleotide variant Uncertain significance rs147396850 GRCh38 Chromosome 6, 131890607: 131890607
99 ENPP1 NM_006208.3(ENPP1): c.*96C> T single nucleotide variant Uncertain significance rs147396850 GRCh37 Chromosome 6, 132211747: 132211747
100 ENPP1 NM_006208.3(ENPP1): c.*637A> C single nucleotide variant Uncertain significance rs552323303 GRCh37 Chromosome 6, 132212288: 132212288
101 ENPP1 NM_006208.3(ENPP1): c.*637A> C single nucleotide variant Uncertain significance rs552323303 GRCh38 Chromosome 6, 131891148: 131891148
102 ENPP1 NM_006208.3(ENPP1): c.*699T> A single nucleotide variant Benign rs34142005 GRCh37 Chromosome 6, 132212350: 132212350
103 ENPP1 NM_006208.3(ENPP1): c.*699T> A single nucleotide variant Benign rs34142005 GRCh38 Chromosome 6, 131891210: 131891210
104 ENPP1 NM_006208.3(ENPP1): c.*735A> G single nucleotide variant Likely benign rs12212882 GRCh37 Chromosome 6, 132212386: 132212386
105 ENPP1 NM_006208.3(ENPP1): c.*735A> G single nucleotide variant Likely benign rs12212882 GRCh38 Chromosome 6, 131891246: 131891246
106 ENPP1 NM_006208.3(ENPP1): c.*772A> G single nucleotide variant Uncertain significance rs34608785 GRCh37 Chromosome 6, 132212423: 132212423
107 ENPP1 NM_006208.3(ENPP1): c.*772A> G single nucleotide variant Uncertain significance rs34608785 GRCh38 Chromosome 6, 131891283: 131891283
108 ENPP1 NM_006208.3(ENPP1): c.*910C> G single nucleotide variant Uncertain significance rs180843359 GRCh37 Chromosome 6, 132212561: 132212561
109 ENPP1 NM_006208.3(ENPP1): c.*910C> G single nucleotide variant Uncertain significance rs180843359 GRCh38 Chromosome 6, 131891421: 131891421
110 ENPP1 NM_006208.3(ENPP1): c.*1101G> T single nucleotide variant Benign rs11154647 GRCh37 Chromosome 6, 132212752: 132212752
111 ENPP1 NM_006208.3(ENPP1): c.*1101G> T single nucleotide variant Benign rs11154647 GRCh38 Chromosome 6, 131891612: 131891612
112 ENPP1 NM_006208.3(ENPP1): c.*1157C> T single nucleotide variant Benign rs7754859 GRCh37 Chromosome 6, 132212808: 132212808
113 ENPP1 NM_006208.3(ENPP1): c.*1157C> T single nucleotide variant Benign rs7754859 GRCh38 Chromosome 6, 131891668: 131891668
114 ENPP1 NM_006208.3(ENPP1): c.*1240T> C single nucleotide variant Uncertain significance rs758925757 GRCh38 Chromosome 6, 131891751: 131891751
115 ENPP1 NM_006208.3(ENPP1): c.*1240T> C single nucleotide variant Uncertain significance rs758925757 GRCh37 Chromosome 6, 132212891: 132212891
116 ENPP1 NM_006208.3(ENPP1): c.*1348T> C single nucleotide variant Likely benign rs9483349 GRCh38 Chromosome 6, 131891859: 131891859
117 ENPP1 NM_006208.3(ENPP1): c.*1348T> C single nucleotide variant Likely benign rs9483349 GRCh37 Chromosome 6, 132212999: 132212999
118 ENPP1 NM_006208.3(ENPP1): c.*1539A> G single nucleotide variant Benign rs9493121 GRCh38 Chromosome 6, 131892050: 131892050
119 ENPP1 NM_006208.3(ENPP1): c.*1539A> G single nucleotide variant Benign rs9493121 GRCh37 Chromosome 6, 132213190: 132213190
120 ENPP1 NM_006208.3(ENPP1): c.*1559G> T single nucleotide variant Likely benign rs551333973 GRCh38 Chromosome 6, 131892070: 131892070
121 ENPP1 NM_006208.3(ENPP1): c.*1559G> T single nucleotide variant Likely benign rs551333973 GRCh37 Chromosome 6, 132213210: 132213210
122 ENPP1 NM_006208.3(ENPP1): c.*1670T> C single nucleotide variant Likely benign rs9493122 GRCh38 Chromosome 6, 131892181: 131892181
123 ENPP1 NM_006208.3(ENPP1): c.*1670T> C single nucleotide variant Likely benign rs9493122 GRCh37 Chromosome 6, 132213321: 132213321
124 ENPP1 NM_006208.3(ENPP1): c.*1795A> T single nucleotide variant Uncertain significance rs886061074 GRCh38 Chromosome 6, 131892306: 131892306
125 ENPP1 NM_006208.3(ENPP1): c.*1795A> T single nucleotide variant Uncertain significance rs886061074 GRCh37 Chromosome 6, 132213446: 132213446
126 ENPP1 NM_006208.3(ENPP1): c.*1972G> C single nucleotide variant Benign rs1931006 GRCh38 Chromosome 6, 131892483: 131892483
127 ENPP1 NM_006208.3(ENPP1): c.*1972G> C single nucleotide variant Benign rs1931006 GRCh37 Chromosome 6, 132213623: 132213623
128 ENPP1 NM_006208.3(ENPP1): c.*2301A> G single nucleotide variant Likely benign rs115728089 GRCh38 Chromosome 6, 131892812: 131892812
129 ENPP1 NM_006208.3(ENPP1): c.*2301A> G single nucleotide variant Likely benign rs115728089 GRCh37 Chromosome 6, 132213952: 132213952
130 ENPP1 NM_006208.3(ENPP1): c.*3163C> T single nucleotide variant Likely benign rs55670720 GRCh37 Chromosome 6, 132214814: 132214814
131 ENPP1 NM_006208.3(ENPP1): c.*3163C> T single nucleotide variant Likely benign rs55670720 GRCh38 Chromosome 6, 131893674: 131893674
132 ENPP1 NM_006208.3(ENPP1): c.*3450T> C single nucleotide variant Uncertain significance rs886061081 GRCh37 Chromosome 6, 132215101: 132215101
133 ENPP1 NM_006208.3(ENPP1): c.*3450T> C single nucleotide variant Uncertain significance rs886061081 GRCh38 Chromosome 6, 131893961: 131893961
134 ENPP1 NM_006208.2(ENPP1): c.*3468delT deletion Uncertain significance rs564304453 GRCh37 Chromosome 6, 132215119: 132215119
135 ENPP1 NM_006208.2(ENPP1): c.*3468delT deletion Uncertain significance rs564304453 GRCh38 Chromosome 6, 131893979: 131893979
136 ENPP1 NM_006208.3(ENPP1): c.*3838G> A single nucleotide variant Likely benign rs59958908 GRCh38 Chromosome 6, 131894349: 131894349
137 ENPP1 NM_006208.3(ENPP1): c.*3838G> A single nucleotide variant Likely benign rs59958908 GRCh37 Chromosome 6, 132215489: 132215489
138 ENPP1 NM_006208.3(ENPP1): c.*4248G> A single nucleotide variant Likely benign rs150587148 GRCh38 Chromosome 6, 131894759: 131894759
139 ENPP1 NM_006208.3(ENPP1): c.*4248G> A single nucleotide variant Likely benign rs150587148 GRCh37 Chromosome 6, 132215899: 132215899
140 ENPP1 NM_006208.3(ENPP1): c.*4571G> C single nucleotide variant Likely benign rs574559068 GRCh38 Chromosome 6, 131895082: 131895082
141 ENPP1 NM_006208.3(ENPP1): c.*4571G> C single nucleotide variant Likely benign rs574559068 GRCh37 Chromosome 6, 132216222: 132216222
142 ENPP1 NM_006208.3(ENPP1): c.154C> T (p.Pro52Ser) single nucleotide variant Uncertain significance rs754866098 GRCh37 Chromosome 6, 132129329: 132129329
143 ENPP1 NM_006208.3(ENPP1): c.154C> T (p.Pro52Ser) single nucleotide variant Uncertain significance rs754866098 GRCh38 Chromosome 6, 131808189: 131808189
144 ENPP1 NM_006208.3(ENPP1): c.313+41_313+46dup duplication Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169029: 132169034
145 ENPP1 NM_006208.3(ENPP1): c.313+41_313+46dup duplication Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847889: 131847894
146 ENPP1 NM_006208.2(ENPP1): c.313+45_313+46delGT deletion Benign rs59956343 GRCh37 Chromosome 6, 132169033: 132169034
147 ENPP1 NM_006208.2(ENPP1): c.313+45_313+46delGT deletion Benign rs59956343 GRCh38 Chromosome 6, 131847893: 131847894
148 ENPP1 NM_006208.3(ENPP1): c.1798T> C (p.Tyr600His) single nucleotide variant Uncertain significance rs199890118 GRCh38 Chromosome 6, 131877066: 131877066
149 ENPP1 NM_006208.3(ENPP1): c.1798T> C (p.Tyr600His) single nucleotide variant Uncertain significance rs199890118 GRCh37 Chromosome 6, 132198206: 132198206
150 ENPP1 NM_006208.3(ENPP1): c.1946-14T> C single nucleotide variant Uncertain significance rs886061067 GRCh38 Chromosome 6, 131879866: 131879866
151 ENPP1 NM_006208.3(ENPP1): c.1946-14T> C single nucleotide variant Uncertain significance rs886061067 GRCh37 Chromosome 6, 132201006: 132201006
152 ENPP1 NM_006208.2(ENPP1): c.2101-10delC deletion Likely benign rs200562612 GRCh38 Chromosome 6, 131882335: 131882335
153 ENPP1 NM_006208.2(ENPP1): c.2101-10delC deletion Likely benign rs200562612 GRCh37 Chromosome 6, 132203475: 132203475
154 ENPP1 NM_006208.3(ENPP1): c.*38G> A single nucleotide variant Uncertain significance rs191654371 GRCh38 Chromosome 6, 131890549: 131890549
155 ENPP1 NM_006208.3(ENPP1): c.*38G> A single nucleotide variant Uncertain significance rs191654371 GRCh37 Chromosome 6, 132211689: 132211689
156 ENPP1 NM_006208.3(ENPP1): c.*457T> A single nucleotide variant Benign rs1044582 GRCh37 Chromosome 6, 132212108: 132212108
157 ENPP1 NM_006208.3(ENPP1): c.*457T> A single nucleotide variant Benign rs1044582 GRCh38 Chromosome 6, 131890968: 131890968
158 ENPP1 NM_006208.3(ENPP1): c.*467A> C single nucleotide variant Uncertain significance rs866470811 GRCh37 Chromosome 6, 132212118: 132212118
159 ENPP1 NM_006208.3(ENPP1): c.*467A> C single nucleotide variant Uncertain significance rs866470811 GRCh38 Chromosome 6, 131890978: 131890978
160 ENPP1 NM_006208.3(ENPP1): c.*563G> A single nucleotide variant Benign rs1044586 GRCh37 Chromosome 6, 132212214: 132212214
161 ENPP1 NM_006208.3(ENPP1): c.*563G> A single nucleotide variant Benign rs1044586 GRCh38 Chromosome 6, 131891074: 131891074
162 ENPP1 NM_006208.3(ENPP1): c.*888C> T single nucleotide variant Uncertain significance rs886061069 GRCh37 Chromosome 6, 132212539: 132212539
163 ENPP1 NM_006208.3(ENPP1): c.*888C> T single nucleotide variant Uncertain significance rs886061069 GRCh38 Chromosome 6, 131891399: 131891399
164 ENPP1 NM_006208.3(ENPP1): c.*1236G> T single nucleotide variant Benign rs11154649 GRCh38 Chromosome 6, 131891747: 131891747
165 ENPP1 NM_006208.3(ENPP1): c.*1236G> T single nucleotide variant Benign rs11154649 GRCh37 Chromosome 6, 132212887: 132212887
166 ENPP1 NM_006208.2(ENPP1): c.*1236_*1238delGCT deletion Uncertain significance rs138970138 GRCh38 Chromosome 6, 131891747: 131891749
167 ENPP1 NM_006208.2(ENPP1): c.*1236_*1238delGCT deletion Uncertain significance rs138970138 GRCh37 Chromosome 6, 132212887: 132212889
168 ENPP1 NM_006208.2(ENPP1): c.*1257delC deletion Uncertain significance rs886061072 GRCh38 Chromosome 6, 131891768: 131891768
169 ENPP1 NM_006208.2(ENPP1): c.*1257delC deletion Uncertain significance rs886061072 GRCh37 Chromosome 6, 132212908: 132212908
170 ENPP1 NM_006208.3(ENPP1): c.*1290T> A single nucleotide variant Uncertain significance rs886061073 GRCh38 Chromosome 6, 131891801: 131891801
171 ENPP1 NM_006208.3(ENPP1): c.*1290T> A single nucleotide variant Uncertain significance rs886061073 GRCh37 Chromosome 6, 132212941: 132212941
172 ENPP1 NM_006208.3(ENPP1): c.*2130C> T single nucleotide variant Uncertain significance rs886061076 GRCh38 Chromosome 6, 131892641: 131892641
173 ENPP1 NM_006208.3(ENPP1): c.*2130C> T single nucleotide variant Uncertain significance rs886061076 GRCh37 Chromosome 6, 132213781: 132213781
174 ENPP1 NM_006208.3(ENPP1): c.*2282G> A single nucleotide variant Likely benign rs73778612 GRCh38 Chromosome 6, 131892793: 131892793
175 ENPP1 NM_006208.3(ENPP1): c.*2282G> A single nucleotide variant Likely benign rs73778612 GRCh37 Chromosome 6, 132213933: 132213933
176 ENPP1 NM_006208.3(ENPP1): c.*2737C> T single nucleotide variant Likely benign rs545095322 GRCh37 Chromosome 6, 132214388: 132214388
177 ENPP1 NM_006208.3(ENPP1): c.*2737C> T single nucleotide variant Likely benign rs545095322 GRCh38 Chromosome 6, 131893248: 131893248
178 ENPP1 NM_006208.2(ENPP1): c.*2835_*2837delCAT deletion Likely benign rs143885750 GRCh37 Chromosome 6, 132214486: 132214488
179 ENPP1 NM_006208.2(ENPP1): c.*2835_*2837delCAT deletion Likely benign rs143885750 GRCh38 Chromosome 6, 131893346: 131893348
180 ENPP1 NM_006208.3(ENPP1): c.*2900G> T single nucleotide variant Likely benign rs78495668 GRCh37 Chromosome 6, 132214551: 132214551
181 ENPP1 NM_006208.3(ENPP1): c.*2900G> T single nucleotide variant Likely benign rs78495668 GRCh38 Chromosome 6, 131893411: 131893411
182 ENPP1 NM_006208.3(ENPP1): c.*3126C> T single nucleotide variant Uncertain significance rs886061078 GRCh37 Chromosome 6, 132214777: 132214777
183 ENPP1 NM_006208.3(ENPP1): c.*3126C> T single nucleotide variant Uncertain significance rs886061078 GRCh38 Chromosome 6, 131893637: 131893637
184 ENPP1 NM_006208.3(ENPP1): c.*3252_*3256dup duplication Likely benign rs3035998 GRCh37 Chromosome 6, 132214903: 132214907
185 ENPP1 NM_006208.3(ENPP1): c.*3252_*3256dup duplication Likely benign rs3035998 GRCh38 Chromosome 6, 131893763: 131893767
186 ENPP1 NM_006208.3(ENPP1): c.*3511T> C single nucleotide variant Benign rs9483350 GRCh37 Chromosome 6, 132215162: 132215162
187 ENPP1 NM_006208.3(ENPP1): c.*3511T> C single nucleotide variant Benign rs9483350 GRCh38 Chromosome 6, 131894022: 131894022
188 ENPP1 NM_006208.3(ENPP1): c.*3615dup duplication Benign rs112718541 GRCh37 Chromosome 6, 132215266: 132215266
189 ENPP1 NM_006208.3(ENPP1): c.*3615dup duplication Benign rs112718541 GRCh38 Chromosome 6, 131894126: 131894126
190 ENPP1 NM_006208.3(ENPP1): c.*3706G> A single nucleotide variant Likely benign rs12205225 GRCh37 Chromosome 6, 132215357: 132215357
191 ENPP1 NM_006208.3(ENPP1): c.*3706G> A single nucleotide variant Likely benign rs12205225 GRCh38 Chromosome 6, 131894217: 131894217
192 ENPP1 NM_006208.3(ENPP1): c.*4346T> A single nucleotide variant Uncertain significance rs374532158 GRCh38 Chromosome 6, 131894857: 131894857
193 ENPP1 NM_006208.3(ENPP1): c.*4346T> A single nucleotide variant Uncertain significance rs374532158 GRCh37 Chromosome 6, 132215997: 132215997
194 ENPP1 NM_006208.3(ENPP1): c.*4636C> T single nucleotide variant Benign rs11963615 GRCh38 Chromosome 6, 131895147: 131895147
195 ENPP1 NM_006208.3(ENPP1): c.*4636C> T single nucleotide variant Benign rs11963615 GRCh37 Chromosome 6, 132216287: 132216287
196 ENPP1 NM_006208.3(ENPP1): c.*4641A> G single nucleotide variant Likely benign rs545401301 GRCh38 Chromosome 6, 131895152: 131895152
197 ENPP1 NM_006208.3(ENPP1): c.*4641A> G single nucleotide variant Likely benign rs545401301 GRCh37 Chromosome 6, 132216292: 132216292
198 ENPP1 NM_006208.3(ENPP1): c.21G> T (p.Ala7=) single nucleotide variant Uncertain significance rs886061063 GRCh37 Chromosome 6, 132129196: 132129196
199 ENPP1 NM_006208.3(ENPP1): c.21G> T (p.Ala7=) single nucleotide variant Uncertain significance rs886061063 GRCh38 Chromosome 6, 131808056: 131808056
200 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTTGTGT insertion Uncertain significance rs879243445 GRCh37 Chromosome 6, 132168996: 132168997
201 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTTGTGT insertion Uncertain significance rs879243445 GRCh38 Chromosome 6, 131847856: 131847857
202 ENPP1 NM_006208.2(ENPP1): c.313+43_313+46delGTGT deletion Conflicting interpretations of pathogenicity rs59956343 GRCh38 Chromosome 6, 131847891: 131847894
203 ENPP1 NM_006208.2(ENPP1): c.313+43_313+46delGTGT deletion Conflicting interpretations of pathogenicity rs59956343 GRCh37 Chromosome 6, 132169031: 132169034
204 ENPP1 NM_006208.3(ENPP1): c.313+45_313+46dup duplication Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169033: 132169034
205 ENPP1 NM_006208.3(ENPP1): c.313+45_313+46dup duplication Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847893: 131847894
206 ENPP1 NM_006208.3(ENPP1): c.332G> A (p.Arg111His) single nucleotide variant Uncertain significance rs749866787 GRCh38 Chromosome 6, 131850008: 131850008
207 ENPP1 NM_006208.3(ENPP1): c.332G> A (p.Arg111His) single nucleotide variant Uncertain significance rs749866787 GRCh37 Chromosome 6, 132171148: 132171148
208 ENPP1 NM_006208.3(ENPP1): c.1317A> G (p.Lys439=) single nucleotide variant Likely benign rs9483347 GRCh38 Chromosome 6, 131869401: 131869401
209 ENPP1 NM_006208.3(ENPP1): c.1317A> G (p.Lys439=) single nucleotide variant Likely benign rs9483347 GRCh37 Chromosome 6, 132190541: 132190541
210 ENPP1 NM_006208.3(ENPP1): c.1540T> C (p.Leu514=) single nucleotide variant Uncertain significance rs536023117 GRCh38 Chromosome 6, 131873025: 131873025
211 ENPP1 NM_006208.3(ENPP1): c.1540T> C (p.Leu514=) single nucleotide variant Uncertain significance rs536023117 GRCh37 Chromosome 6, 132194165: 132194165
212 ENPP1 NM_006208.3(ENPP1): c.1566-14T> C single nucleotide variant Likely benign rs75272847 GRCh38 Chromosome 6, 131874254: 131874254
213 ENPP1 NM_006208.3(ENPP1): c.1566-14T> C single nucleotide variant Likely benign rs75272847 GRCh37 Chromosome 6, 132195394: 132195394
214 ENPP1 NM_006208.3(ENPP1): c.2124C> A (p.Phe708Leu) single nucleotide variant Likely benign rs140521704 GRCh38 Chromosome 6, 131882368: 131882368
215 ENPP1 NM_006208.3(ENPP1): c.2124C> A (p.Phe708Leu) single nucleotide variant Likely benign rs140521704 GRCh37 Chromosome 6, 132203508: 132203508
216 ENPP1 NM_006208.3(ENPP1): c.*112G> A single nucleotide variant Benign rs1044548 GRCh38 Chromosome 6, 131890623: 131890623
217 ENPP1 NM_006208.3(ENPP1): c.*112G> A single nucleotide variant Benign rs1044548 GRCh37 Chromosome 6, 132211763: 132211763
218 ENPP1 NM_006208.3(ENPP1): c.*163C> T single nucleotide variant Benign rs1044558 GRCh38 Chromosome 6, 131890674: 131890674
219 ENPP1 NM_006208.3(ENPP1): c.*163C> T single nucleotide variant Benign rs1044558 GRCh37 Chromosome 6, 132211814: 132211814
220 ENPP1 NM_006208.3(ENPP1): c.*389G> A single nucleotide variant Benign rs553 GRCh37 Chromosome 6, 132212040: 132212040
221 ENPP1 NM_006208.3(ENPP1): c.*389G> A single nucleotide variant Benign rs553 GRCh38 Chromosome 6, 131890900: 131890900
222 ENPP1 NM_006208.3(ENPP1): c.*485C> A single nucleotide variant Uncertain significance rs563326994 GRCh37 Chromosome 6, 132212136: 132212136
223 ENPP1 NM_006208.3(ENPP1): c.*485C> A single nucleotide variant Uncertain significance rs563326994 GRCh38 Chromosome 6, 131890996: 131890996
224 ENPP1 NM_006208.3(ENPP1): c.*536T> C single nucleotide variant Uncertain significance rs184796209 GRCh37 Chromosome 6, 132212187: 132212187
225 ENPP1 NM_006208.3(ENPP1): c.*536T> C single nucleotide variant Uncertain significance rs184796209 GRCh38 Chromosome 6, 131891047: 131891047
226 ENPP1 NM_006208.3(ENPP1): c.*698_*699insA insertion Benign rs113083049 GRCh37 Chromosome 6, 132212349: 132212350
227 ENPP1 NM_006208.3(ENPP1): c.*698_*699insA insertion Benign rs113083049 GRCh38 Chromosome 6, 131891209: 131891210
228 ENPP1 NM_006208.3(ENPP1): c.*772A> T single nucleotide variant Benign rs34608785 GRCh37 Chromosome 6, 132212423: 132212423
229 ENPP1 NM_006208.3(ENPP1): c.*772A> T single nucleotide variant Benign rs34608785 GRCh38 Chromosome 6, 131891283: 131891283
230 ENPP1 NM_006208.3(ENPP1): c.*777C> T single nucleotide variant Benign rs34836463 GRCh37 Chromosome 6, 132212428: 132212428
231 ENPP1 NM_006208.3(ENPP1): c.*777C> T single nucleotide variant Benign rs34836463 GRCh38 Chromosome 6, 131891288: 131891288
232 ENPP1 NM_006208.3(ENPP1): c.*1038T> A single nucleotide variant Uncertain significance rs79214335 GRCh37 Chromosome 6, 132212689: 132212689
233 ENPP1 NM_006208.3(ENPP1): c.*1038T> A single nucleotide variant Uncertain significance rs79214335 GRCh38 Chromosome 6, 131891549: 131891549
234 ENPP1 NM_006208.3(ENPP1): c.*1221A> G single nucleotide variant Uncertain significance rs537272519 GRCh38 Chromosome 6, 131891732: 131891732
235 ENPP1 NM_006208.3(ENPP1): c.*1221A> G single nucleotide variant Uncertain significance rs537272519 GRCh37 Chromosome 6, 132212872: 132212872
236 ENPP1 NM_006208.3(ENPP1): c.*1256dup duplication Uncertain significance rs34545497 GRCh38 Chromosome 6, 131891767: 131891767
237 ENPP1 NM_006208.3(ENPP1): c.*1256dup duplication Uncertain significance rs34545497 GRCh37 Chromosome 6, 132212907: 132212907
238 ENPP1 NM_006208.3(ENPP1): c.*1299C> T single nucleotide variant Likely benign rs11965061 GRCh38 Chromosome 6, 131891810: 131891810
239 ENPP1 NM_006208.3(ENPP1): c.*1299C> T single nucleotide variant Likely benign rs11965061 GRCh37 Chromosome 6, 132212950: 132212950
240 ENPP1 NM_006208.3(ENPP1): c.*1350G> A single nucleotide variant Benign rs9493120 GRCh38 Chromosome 6, 131891861: 131891861
241 ENPP1 NM_006208.3(ENPP1): c.*1350G> A single nucleotide variant Benign rs9493120 GRCh37 Chromosome 6, 132213001: 132213001
242 ENPP1 NM_006208.3(ENPP1): c.*1499C> T single nucleotide variant Uncertain significance rs541116091 GRCh38 Chromosome 6, 131892010: 131892010
243 ENPP1 NM_006208.3(ENPP1): c.*1499C> T single nucleotide variant Uncertain significance rs541116091 GRCh37 Chromosome 6, 132213150: 132213150
244 ENPP1 NM_006208.3(ENPP1): c.*2036A> G single nucleotide variant Likely benign rs73778611 GRCh38 Chromosome 6, 131892547: 131892547
245 ENPP1 NM_006208.3(ENPP1): c.*2036A> G single nucleotide variant Likely benign rs73778611 GRCh37 Chromosome 6, 132213687: 132213687
246 ENPP1 NM_006208.3(ENPP1): c.*2076C> T single nucleotide variant Uncertain significance rs117531639 GRCh38 Chromosome 6, 131892587: 131892587
247 ENPP1 NM_006208.3(ENPP1): c.*2076C> T single nucleotide variant Uncertain significance rs117531639 GRCh37 Chromosome 6, 132213727: 132213727
248 ENPP1 NM_006208.3(ENPP1): c.*2342G> T single nucleotide variant Uncertain significance rs570500845 GRCh37 Chromosome 6, 132213993: 132213993
249 ENPP1 NM_006208.3(ENPP1): c.*2342G> T single nucleotide variant Uncertain significance rs570500845 GRCh38 Chromosome 6, 131892853: 131892853
250 ENPP1 NM_006208.3(ENPP1): c.*2698G> A single nucleotide variant Uncertain significance rs146550172 GRCh37 Chromosome 6, 132214349: 132214349
251 ENPP1 NM_006208.3(ENPP1): c.*2698G> A single nucleotide variant Uncertain significance rs146550172 GRCh38 Chromosome 6, 131893209: 131893209
252 ENPP1 NM_006208.3(ENPP1): c.*3017C> T single nucleotide variant Likely benign rs1931009 GRCh37 Chromosome 6, 132214668: 132214668
253 ENPP1 NM_006208.3(ENPP1): c.*3017C> T single nucleotide variant Likely benign rs1931009 GRCh38 Chromosome 6, 131893528: 131893528
254 ENPP1 NM_006208.3(ENPP1): c.*3271C> G single nucleotide variant Likely benign rs1510 GRCh37 Chromosome 6, 132214922: 132214922
255 ENPP1 NM_006208.3(ENPP1): c.*3271C> G single nucleotide variant Likely benign rs1510 GRCh38 Chromosome 6, 131893782: 131893782
256 ENPP1 NM_006208.3(ENPP1): c.*3528C> T single nucleotide variant Uncertain significance rs557822175 GRCh37 Chromosome 6, 132215179: 132215179
257 ENPP1 NM_006208.3(ENPP1): c.*3528C> T single nucleotide variant Uncertain significance rs557822175 GRCh38 Chromosome 6, 131894039: 131894039
258 ENPP1 NM_006208.3(ENPP1): c.*4015G> A single nucleotide variant Uncertain significance rs531152298 GRCh38 Chromosome 6, 131894526: 131894526
259 ENPP1 NM_006208.3(ENPP1): c.*4015G> A single nucleotide variant Uncertain significance rs531152298 GRCh37 Chromosome 6, 132215666: 132215666
260 ENPP1 NM_006208.3(ENPP1): c.*4586G> A single nucleotide variant Uncertain significance rs886061083 GRCh38 Chromosome 6, 131895097: 131895097
261 ENPP1 NM_006208.3(ENPP1): c.*4586G> A single nucleotide variant Uncertain significance rs886061083 GRCh37 Chromosome 6, 132216237: 132216237
262 ENPP1 NM_006208.3(ENPP1): c.-24G> C single nucleotide variant Likely benign rs1800948 GRCh38 Chromosome 6, 131808012: 131808012
263 ENPP1 NM_006208.3(ENPP1): c.-24G> C single nucleotide variant Likely benign rs1800948 GRCh37 Chromosome 6, 132129152: 132129152
264 ENPP1 NM_006208.2(ENPP1): c.288delG (p.Leu97Terfs) deletion Pathogenic rs1554278189 GRCh37 Chromosome 6, 132168963: 132168963
265 ENPP1 NM_006208.2(ENPP1): c.288delG (p.Leu97Terfs) deletion Pathogenic rs1554278189 GRCh38 Chromosome 6, 131847823: 131847823
266 ENPP1 NM_006208.3(ENPP1): c.323G> T (p.Cys108Phe) single nucleotide variant Likely pathogenic rs763922486 GRCh37 Chromosome 6, 132171139: 132171139
267 ENPP1 NM_006208.3(ENPP1): c.323G> T (p.Cys108Phe) single nucleotide variant Likely pathogenic rs763922486 GRCh38 Chromosome 6, 131849999: 131849999
268 ENPP1 NM_006208.3(ENPP1): c.1441C> T (p.Arg481Trp) single nucleotide variant Pathogenic rs373044722 GRCh38 Chromosome 6, 131872926: 131872926
269 ENPP1 NM_006208.3(ENPP1): c.1441C> T (p.Arg481Trp) single nucleotide variant Pathogenic rs373044722 GRCh37 Chromosome 6, 132194066: 132194066
270 ENPP1 NM_006208.3(ENPP1): c.2330A> G (p.His777Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 132206089: 132206089
271 ENPP1 NM_006208.3(ENPP1): c.2330A> G (p.His777Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 131884949: 131884949
272 ENPP1 NM_006208.3(ENPP1): c.1652A> G (p.Tyr551Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 132196932: 132196932
273 ENPP1 NM_006208.3(ENPP1): c.1652A> G (p.Tyr551Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 131875792: 131875792

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 (showing 6, show less)
# 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:

(showing 7, show less)
# 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:

(showing 1, show less)
# 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
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50 NCI
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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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