GACI
MCID: ART035
MIFTS: 44

Arterial Calcification of Infancy (GACI)

Categories: Blood diseases, Cardiovascular diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arterial Calcification of Infancy

MalaCards integrated aliases for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 12 75 53 29 6 44 15 72
Idiopathic Infantile Arterial Calcification 12 24 53 25 59
Generalized Arterial Calcification of Infancy 12 24 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:



External Ids:

Disease Ontology 12 DOID:0050644
MeSH 44 C537440
MESH via Orphanet 45 C537440
ICD10 via Orphanet 34 Q28.8
UMLS via Orphanet 73 C0264955 C1859727
Orphanet 59 ORPHA51608
UMLS 72 C1859727

Summaries for Arterial Calcification of Infancy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 51608DefinitionA 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. The prevalence is unknown; however, based on carrier frequency of the recognized pathogenic variants, the frequency of 1/566,000 has been suggested.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 genes ENPP1 (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 idiopathic infantile arterial calcification, is related to pseudoxanthoma elasticum and rickets. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). Affiliated tissues include heart, skin and bone, 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). People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets). Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination. As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.

Wikipedia : 75 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 top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.4 ENPP1 ABCC6
2 rickets 30.3 PHEX FGF23 ENPP1
3 hypophosphatemia 30.1 PHEX FGF23 ENPP1
4 hypophosphatasia 30.1 PHEX ENPP1
5 hypophosphatemic rickets, x-linked recessive 30.0 PHEX FGF23 ENPP1
6 hypophosphatemic rickets, x-linked dominant 30.0 PHEX FGF23
7 calciphylaxis 29.8 NT5E FGF23
8 calcinosis 29.8 PHEX FGF23 ENPP1
9 autosomal recessive hypophosphatemic rickets 29.7 PHEX FGF23 ENPP1
10 arterial calcification, generalized, of infancy, 1 12.5
11 arterial calcification, generalized, of infancy, 2 12.4
12 calcification of joints and arteries 11.3
13 brittle bone disorder 10.7
14 col1a1/2-related osteogenesis imperfecta 10.7
15 cystic fibrosis 10.5
16 autosomal recessive disease 10.4
17 opsismodysplasia 10.2 PHEX FGF23
18 enthesopathy 10.2 PHEX FGF23
19 oncogenic osteomalacia 10.2 PHEX FGF23
20 osteomalacia 10.2 PHEX FGF23
21 familial tumoral calcinosis 10.2 PHEX FGF23
22 hypercementosis 10.2
23 ankylosis 10.2
24 hypophosphatemic rickets, autosomal dominant 10.1 PHEX FGF23
25 arteriosclerosis 10.1
26 phosphorus metabolism disease 10.1 PHEX FGF23
27 hepatic infarction 10.1 PHEX FGD1
28 mineral metabolism disease 10.1 PHEX FGF23
29 bone remodeling disease 10.0 PHEX FGF23
30 respiratory failure 10.0
31 hemopericardium 10.0
32 pericardial effusion 10.0
33 nephrocalcinosis 10.0
34 congestive heart failure 10.0
35 fetal edema 10.0
36 hydrops fetalis 10.0
37 hyperphosphatemia 10.0 PHEX FGF23
38 atrial standstill 1 10.0
39 cardiac arrest 10.0
40 pulmonary edema 10.0
41 gastroenteritis 10.0
42 aortic aneurysm 10.0
43 chronic intestinal vascular insufficiency 10.0
44 aortic coarctation 10.0
45 cerebral atrophy 10.0
46 posttransplant acute limbic encephalitis 10.0
47 thrombotic microangiopathy 10.0
48 hypophosphatemic rickets with hypercalciuria, hereditary 9.9 PHEX FGF23 ENPP1
49 rhizomelic chondrodysplasia punctata, type 1 9.9
50 chromosomal triplication 9.9

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:

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 9.43 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 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Recruiting NCT03758534
2 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

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 29 ENPP1

Anatomical Context for Arterial Calcification of Infancy

MalaCards organs/tissues related to Arterial Calcification of Infancy:

41
Heart, Skin, Bone, Testes, Eye, Kidney, Liver

Publications for Arterial Calcification of Infancy

Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 217)
# Title Authors PMID Year
1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 38 4 71
22209248 2012
2
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 38 4 71
20137773 2010
3
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 38 4 71
20034067 2010
4
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. 38 4 71
19206175 2009
5
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 38 4 71
20016754 2008
6
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. 38 4 71
16573612 2006
7
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 38 4 71
15940697 2005
8
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 38 4 71
15605415 2005
9
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 38 4 71
12881724 2003
10
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. 38 4 71
11159191 2001
11
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. 38 4 71
8960499 1997
12
Generalized Arterial Calcification of Infancy 38 71
25392903 2014
13
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 71
28102862 2017
14
[GACI syndrome: a case report with a neonatal beginning]. 38 4
24768072 2014
15
Hearing loss is part of the clinical picture of ENPP1 loss of function mutation. 38 4
24216977 2014
16
The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification. 38 4
23855924 2013
17
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. 38 4
22972716 2013
18
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. 38 4
22229486 2012
19
Molecular diagnosis of generalized arterial calcification of infancy (GACI). 38 4
22629037 2012
20
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. 38 4
23269929 2012
21
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. 38 4
21932012 2011
22
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. 38 4
23430823 2011
23
Idiopathic infantile arterial calcification with thrombotic microangiopathy--a unique case. 38 4
21043566 2010
24
Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis. 38 4
19813208 2009
25
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. 38 4
19452427 2009
26
Generalized arterial calcification of infancy: treatment with bisphosphonates. 38 4
19229237 2009
27
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 71
18800149 2009
28
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. 38 4
18842162 2008
29
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. 38 4
18482240 2008
30
Idiopathic infantile arterial calcification: the spectrum of clinical presentations. 38 4
17990935 2008
31
Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. 38 4
16649023 2006
32
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 71
16541094 2006
33
Generalized arterial calcification of infancy: two siblings with prolonged survival. 38 4
16315058 2006
34
Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography. 38 4
16429273 2006
35
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 71
16086317 2005
36
New findings in idiopathic arterial calcification of infancy detected by MDCT. 38 4
16037532 2005
37
Idiopathic infantile arterial calcification and persistent pulmonary hypertension. 38 4
15838744 2005
38
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 71
12714611 2003
39
Pulmonary arterial and intracranial calcification in the recipient of a twin-twin transfusion. 38 4
15773456 2002
40
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. 71
12384774 2002
41
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. 71
12176944 2002
42
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. 71
11179012 2001
43
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. 38 4
11178681 2001
44
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 71
11439001 2001
45
Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. 38 4
11083387 2000
46
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 71
10811882 2000
47
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. 38 4
9545482 1998
48
Aorto-pulmonary calcification: an unusual manifestation of idiopathic calcification of infancy evident antenatally. 38 4
7724139 1995
49
Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. 38 4
7885787 1994
50
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. 38 4
8391568 1993

Variations for Arterial Calcification of Infancy

ClinVar genetic disease variations for Arterial Calcification of Infancy:

6 (show top 50) (show all 137)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ENPP1 NM_006208.3(ENPP1): c.1072_1082del (p.Gln358fs) deletion Pathogenic rs1554203715 6:132185692-132185702 6:131864552-131864562
2 ENPP1 NM_006208.3(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 6:132198145-132198145 6:131877005-131877005
3 ENPP1 NM_006208.3(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 6:132182844-132182844 6:131861704-131861704
4 ENPP1 NM_006208.3(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 6:132186026-132186026 6:131864886-131864886
5 ENPP1 NM_006208.3(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 6:132181528-132181528 6:131860388-131860388
6 ENPP1 NM_006208.3(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 6:132179875-132179875 6:131858735-131858735
7 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
8 ENPP1 NM_006208.3(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 6:132195454-132195454 6:131874314-131874314
9 ENPP1 NM_006208.3(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 6:132179888-132179888 6:131858748-131858748
10 ENPP1 NM_006208.3(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 6:132211550-132211550 6:131890410-131890410
11 ENPP1 NM_006208.3(ENPP1): c.1441C> T (p.Arg481Trp) single nucleotide variant Pathogenic/Likely pathogenic rs373044722 6:132194066-132194066 6:131872926-131872926
12 ENPP1 NM_006208.3(ENPP1): c.323G> T (p.Cys108Phe) single nucleotide variant Likely pathogenic rs763922486 6:132171139-132171139 6:131849999-131849999
13 ENPP1 NM_006208.3(ENPP1): c.1000C> G (p.Pro334Ala) single nucleotide variant Likely pathogenic 6:132182819-132182819 6:131861679-131861679
14 ENPP1 NM_006208.3(ENPP1): c.313+9GT[17] short repeat Conflicting interpretations of pathogenicity rs59956343 6:132169031-132169034 6:131847891-131847894
15 ENPP1 NM_006208.3(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 6:132181644-132181644 6:131860504-131860504
16 ENPP1 NM_006208.3(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 6:132211530-132211530 6:131890390-131890390
17 ENPP1 NM_006208.3(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 6:132129163-132129163 6:131808023-131808023
18 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 6:132168996-132168997 6:131847856-131847857
19 ENPP1 NM_006208.3(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 6:132168997-132168998 6:131847857-131847858
20 ENPP1 NM_006208.3(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 6:132168998-132168998 6:131847858-131847858
21 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 6:132169029-132169034 6:131847889-131847894
22 ENPP1 NM_006208.3(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 6:132181533-132181533 6:131860393-131860393
23 ENPP1 NM_006208.3(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 6:132198164-132198164 6:131877024-131877024
24 ENPP1 NM_006208.3(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 6:132201163-132201163 6:131880023-131880023
25 ENPP1 NM_006208.3(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 6:132203627-132203627 6:131882487-131882487
26 ENPP1 NM_006208.3(ENPP1): c.2757A> T (p.Pro919=) single nucleotide variant Uncertain significance rs73541508 6:132211630-132211630 6:131890490-131890490
27 ENPP1 NM_006208.3(ENPP1): c.*459G> T single nucleotide variant Uncertain significance rs886061068 6:132212110-132212110 6:131890970-131890970
28 ENPP1 NM_006208.3(ENPP1): c.1652A> G (p.Tyr551Cys) single nucleotide variant Uncertain significance 6:132196932-132196932 6:131875792-131875792
29 ENPP1 NM_006208.3(ENPP1): c.2330A> G (p.His777Arg) single nucleotide variant Uncertain significance 6:132206089-132206089 6:131884949-131884949
30 ENPP1 NM_006208.3(ENPP1): c.*1960C> T single nucleotide variant Uncertain significance rs538657283 6:132213611-132213611 6:131892471-131892471
31 ENPP1 NM_006208.3(ENPP1): c.*2129T> C single nucleotide variant Uncertain significance rs886061075 6:132213780-132213780 6:131892640-131892640
32 ENPP1 NM_006208.3(ENPP1): c.*1122A> G single nucleotide variant Uncertain significance rs148507889 6:132212773-132212773 6:131891633-131891633
33 ENPP1 NM_006208.3(ENPP1): c.165G> A (p.Val55=) single nucleotide variant Uncertain significance rs768034745 6:132129340-132129340 6:131808200-131808200
34 ENPP1 NM_006208.3(ENPP1): c.1296G> C (p.Lys432Asn) single nucleotide variant Uncertain significance rs886061066 6:132190520-132190520 6:131869380-131869380
35 ENPP1 NM_006208.3(ENPP1): c.2236A> C (p.Asn746His) single nucleotide variant Uncertain significance rs144099489 6:132204839-132204839 6:131883699-131883699
36 ENPP1 NM_006208.3(ENPP1): c.*96C> T single nucleotide variant Uncertain significance rs147396850 6:132211747-132211747 6:131890607-131890607
37 ENPP1 NM_006208.3(ENPP1): c.*637A> C single nucleotide variant Uncertain significance rs552323303 6:132212288-132212288 6:131891148-131891148
38 ENPP1 NM_006208.3(ENPP1): c.*772A> G single nucleotide variant Uncertain significance rs34608785 6:132212423-132212423 6:131891283-131891283
39 ENPP1 NM_006208.3(ENPP1): c.*910C> G single nucleotide variant Uncertain significance rs180843359 6:132212561-132212561 6:131891421-131891421
40 ENPP1 NM_006208.3(ENPP1): c.*1240T> C single nucleotide variant Uncertain significance rs758925757 6:132212891-132212891 6:131891751-131891751
41 ENPP1 NM_006208.3(ENPP1): c.*1795A> T single nucleotide variant Uncertain significance rs886061074 6:132213446-132213446 6:131892306-131892306
42 ENPP1 NM_006208.3(ENPP1): c.*3450T> C single nucleotide variant Uncertain significance rs886061081 6:132215101-132215101 6:131893961-131893961
43 ENPP1 NM_006208.3(ENPP1): c.*3468del deletion Uncertain significance rs564304453 6:132215119-132215119 6:131893979-131893979
44 ENPP1 NM_006208.3(ENPP1): c.313+45_313+46dup duplication Uncertain significance rs59956343 6:132169033-132169034 6:131847893-131847894
45 ENPP1 NM_006208.3(ENPP1): c.332G> A (p.Arg111His) single nucleotide variant Uncertain significance rs749866787 6:132171148-132171148 6:131850008-131850008
46 ENPP1 NM_006208.3(ENPP1): c.*4346T> A single nucleotide variant Uncertain significance rs374532158 6:132215997-132215997 6:131894857-131894857
47 ENPP1 NM_006208.3(ENPP1): c.21G> T (p.Ala7=) single nucleotide variant Uncertain significance rs886061063 6:132129196-132129196 6:131808056-131808056
48 ENPP1 NM_006208.3(ENPP1): c.313+8_313+9insTTGTGT insertion Uncertain significance rs879243445 6:132168996-132168997 6:131847856-131847857
49 ENPP1 NM_006208.3(ENPP1): c.*3126C> T single nucleotide variant Uncertain significance rs886061078 6:132214777-132214777 6:131893637-131893637
50 ENPP1 NM_006208.3(ENPP1): c.*888C> T single nucleotide variant Uncertain significance rs886061069 6:132212539-132212539 6:131891399-131891399

Expression for Arterial Calcification of Infancy

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

Pathways for Arterial Calcification of Infancy

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 PHEX ENPP1
2 regulation of bone mineralization GO:0030500 9.37 FGF23 ENPP1
3 phosphate-containing compound metabolic process GO:0006796 9.32 FGF23 ENPP1
4 cellular response to vitamin D GO:0071305 9.26 PHEX FGF23
5 cellular response to parathyroid hormone stimulus GO:0071374 9.16 PHEX FGF23
6 cellular phosphate ion homeostasis GO:0030643 8.96 FGF23 ENPP1
7 response to sodium phosphate GO:1904383 8.62 PHEX FGF23

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 SUOX PHEX NT5E FGD1 ENPP1 ACE

Sources for Arterial Calcification of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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