GACI1
MCID: ART106
MIFTS: 46

Arterial Calcification, Generalized, of Infancy, 1 (GACI1)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Arterial Calcification, Generalized, of Infancy, 1

MalaCards integrated aliases for Arterial Calcification, Generalized, of Infancy, 1:

Name: Arterial Calcification, Generalized, of Infancy, 1 56 29 13 6
Generalized Arterial Calcification of Infancy 73 36 29
Idiopathic Infantile Arterial Calcification 56 73
Vascular Calcification 43 71
Gaci1 56 73
Gaci 56 73
Iiac 56 73
Calcification, Arterial, Generalized, Infancy, Type 1 39
Idiopathic Infantile Arterial Calcification; Iiac 56
Arterial Calcification of Infancy, Generalized, 1 73
Arterial Calcification, Idiopathic Infantile 56
Arteriopathy, Occlusive Infantile 56
Arterial Calcification of Infancy 71
Occlusive Infantile Arteriopathy 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
most patients die in infancy
features of pseudoxanthoma elasticum seen in later childhood in some surviving patients


HPO:

31
arterial calcification, generalized, of infancy, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 208000
OMIM Phenotypic Series 56 PS208000
KEGG 36 H01002
MeSH 43 D061205
UMLS 71 C0342649 C1859727

Summaries for Arterial Calcification, Generalized, of Infancy, 1

KEGG : 36 Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating mutations in ENPP1 in about 75% of the cases. ENPP1 generates PPi that inhibits hydroxyapatite crystal growth.

MalaCards based summary : Arterial Calcification, Generalized, of Infancy, 1, also known as generalized arterial calcification of infancy, is related to arterial calcification of infancy and pseudoxanthoma elasticum. An important gene associated with Arterial Calcification, Generalized, of Infancy, 1 is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are Purine metabolism and Starch and sucrose metabolism. The drugs Ethanol and fluindione have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are short stature and hypophosphatemic rickets

OMIM : 56 Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). (208000)

UniProtKB/Swiss-Prot : 73 Arterial calcification of infancy, generalized, 1: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.

Wikipedia : 74 GACI - Pronounced... more...

Related Diseases for Arterial Calcification, Generalized, of Infancy, 1

Diseases in the Arterial Calcification, Generalized, of Infancy, 1 family:

Arterial Calcification, Generalized, of Infancy, 2

Diseases related to Arterial Calcification, Generalized, of Infancy, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 12.3
2 pseudoxanthoma elasticum 11.6
3 arterial calcification, generalized, of infancy, 2 11.3
4 calcification of joints and arteries 11.2
5 kidney disease 10.9
6 hyperphosphatemia 10.7
7 end stage renal disease 10.7
8 hyperparathyroidism 10.6
9 uremia 10.6
10 secondary hyperparathyroidism 10.5
11 atherosclerosis susceptibility 10.5
12 osteoporosis 10.4
13 bone mineral density quantitative trait locus 8 10.4
14 bone mineral density quantitative trait locus 15 10.4
15 arteriosclerosis 10.4
16 bone disease 10.4
17 lipid metabolism disorder 10.3
18 hypophosphatemic rickets, x-linked recessive 10.3
19 rickets 10.3
20 renal osteodystrophy 10.3
21 hydrops fetalis, nonimmune 10.3
22 peripheral vascular disease 10.2
23 hypercholesterolemia, familial, 1 10.2
24 vitamin k deficiency bleeding 10.2
25 diabetes mellitus 10.2
26 hypophosphatemia 10.2
27 autosomal recessive disease 10.2
28 hypercementosis 10.2
29 ankylosis 10.2
30 arteries, anomalies of 10.1
31 hyperlipoproteinemia, type iii 10.1
32 lipoprotein quantitative trait locus 10.1
33 pulmonary hypertension 10.1
34 hemopericardium 10.1
35 pericardial effusion 10.1
36 nephrocalcinosis 10.1
37 congestive heart failure 10.1
38 bone mineral density quantitative trait locus 3 10.1
39 microvascular complications of diabetes 3 10.1
40 microvascular complications of diabetes 4 10.1
41 microvascular complications of diabetes 6 10.1
42 microvascular complications of diabetes 7 10.1
43 metabolic acidosis 10.1
44 hyperglycemia 10.1
45 proteasome-associated autoinflammatory syndrome 1 10.1
46 peripheral artery disease 10.1
47 hutchinson-gilford progeria syndrome 10.0
48 aging 10.0
49 coronary heart disease 1 10.0
50 hypoparathyroidism 10.0

Graphical network of the top 20 diseases related to Arterial Calcification, Generalized, of Infancy, 1:



Diseases related to Arterial Calcification, Generalized, of Infancy, 1

Symptoms & Phenotypes for Arterial Calcification, Generalized, of Infancy, 1

Human phenotypes related to Arterial Calcification, Generalized, of Infancy, 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 hypophosphatemic rickets 31 occasional (7.5%) HP:0004912
3 periarticular calcification 31 occasional (7.5%) HP:0025477
4 congestive heart failure 31 HP:0001635
5 myocardial infarction 31 HP:0001658
6 hypertension 31 HP:0000822
7 arterial stenosis 31 HP:0100545
8 coronary artery calcification 31 HP:0001717
9 ankylosis 31 HP:0031013
10 growth abnormality 31 HP:0001507
11 generalized arterial calcification 31 HP:0004940

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
myocardial infarction
coronary artery calcification
heart failure
cardiac dysfunction

Head And Neck Teeth:
ankylosis
infraocclusion
overretained primary teeth
reduced tooth movement with orthodontic treatment
hypercementosis of cervical cementum
more
Head And Neck Ears:
deafness, conductive (in some patients)

Head And Neck Neck:
pseudoxanthomatous skin lesions (in some patients)

Abdomen External Features:
periumbilical pseudoxanthomatous skin lesions (in some patients)

Metabolic Features:
hypophosphatemia due to decreased renal tubular phosphate reabsorption

Cardiovascular Vascular:
hypertension
generalized calcification of arteries, including aorta and intraparenchymal arteries
arterial stenosis due to myointimal proliferation
panarteritis (rare)

Growth Height:
short stature (in some patients)

Head And Neck Eyes:
angioid retinal streaks (in some patients)

Skin Nails Hair Skin:
pseudoxanthomatous skin lesions (in some patients)

Skeletal:
periarticular calcification (in some patients)
hypophosphatemic rickets (in some patients)

Clinical features from OMIM:

208000

Drugs & Therapeutics for Arterial Calcification, Generalized, of Infancy, 1

Drugs for Arterial Calcification, Generalized, of Infancy, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2 fluindione Approved, Investigational Phase 4 957-56-2
3
Atorvastatin Approved Phase 4 134523-00-5 60823
4
Dalteparin Approved Phase 4 9005-49-6
5
Phenindione Approved, Investigational Phase 4 83-12-5 4760
6
tannic acid Approved Phase 4 1401-55-4
7
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
8
Apixaban Approved Phase 4 503612-47-3 10182969
9
Warfarin Approved Phase 4 81-81-2 6691 54678486
10
Rivaroxaban Approved Phase 4 366789-02-8
11
Calcium carbonate Approved, Investigational Phase 4 471-34-1
12
Calcium acetate Approved, Investigational Phase 4 62-54-4
13
Sevelamer Approved Phase 4 52757-95-6
14
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
15
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
16
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
18 Vasoconstrictor Agents Phase 4
19 Butylated Hydroxytoluene Phase 4
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
21 Anticholesteremic Agents Phase 4
22 Heparin, Low-Molecular-Weight Phase 4
23 Antivitamins K Phase 4
24 Hemodialysis Solutions Phase 4
25 Antioxidants Phase 4
26 Protective Agents Phase 4
27 Antithrombins Phase 4
28 Antithrombin III Phase 4
29 Hemostatics Phase 4
30 Serine Proteinase Inhibitors Phase 4
31 Factor Xa Inhibitors Phase 4
32
protease inhibitors Phase 4
33 HIV Protease Inhibitors Phase 4
34 Antifibrinolytic Agents Phase 4
35 Anticoagulants Phase 4
36 Coagulants Phase 4
37 retinol Phase 4
38 Retinol palmitate Phase 4
39 Antacids Phase 4
40 Anti-Ulcer Agents Phase 4
41 Gastrointestinal Agents Phase 4
42 Chelating Agents Phase 4
43
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
44
carbamide peroxide Approved Phase 3 124-43-6
45
Spironolactone Approved Phase 3 52-01-7, 1952-01-7 5833
46
Alendronate Approved Phase 2, Phase 3 66376-36-1, 121268-17-5 2088
47
Denosumab Approved Phase 2, Phase 3 615258-40-7
48
Cinacalcet Approved Phase 3 226256-56-0 156419
49
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
50
Calcitriol Approved, Nutraceutical Phase 2, Phase 3 32222-06-3 5280453 134070

Interventional clinical trials:

(show top 50) (show all 151)
# Name Status NCT ID Phase Drugs
1 Effects of Cholecalciferol on Osteoprotegerin Levels and Other Clinical Outcomes in Chronic Kidney Disease Patients on Peritoneal Dialysis: a Randomized Controlled Trial Unknown status NCT02598635 Phase 4 Cholecalciferol;Placebo
2 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4 Calcitriol;placebo
3 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
4 The Effect of Ferric Citrate on Inflammation and Lipid Levels in Patients on Hemodialysis Unknown status NCT02661295 Phase 4 Ferric Citrate
5 The Efficacy of Lescol XL(Fluvastatin Extended Release 80 mg) on Atherosclerosis Progression in Patients With Newly Diagnosed Coronary Heart Disease Unknown status NCT01681199 Phase 4 Fluvastatin extended release tablet
6 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
7 Can Alendronate Suppress Aortic and Coronary Artery Calcification and Improve Bone Mineral Density in Chronic Peritoneal Dialysis Patients? Unknown status NCT00299572 Phase 4 alendronate (Fosamax)
8 A Randomized Study to Evaluate the Effects of Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease (CKD) Receiving Hemodialysis Completed NCT00379899 Phase 4 cinacalcet
9 The Effect of Replacement of Vitamin K Antagonist by Rivaroxaban With or Without Vitamin K2 Supplementation on Vascular Calcifications in Chronic Hemodialysis Patients: A Randomized Controlled Trial Completed NCT02610933 Phase 4 rivaroxaban
10 Randomised Controlled Trial of the Effect of Alendronate on Vascular Calcification and Arterial Stiffness in Chronic Kidney Disease: A Pilot Study Completed NCT00395382 Phase 4 Alendronate;Placebo
11 Effect of Cinacalcet Treatment on Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
12 A Phase IV, Randomized, Single-center Study of the Effects of Calcitriol and Paricalcitol on Vascular Calcification in Chronic Kidney Disease Stages 3 and 4 Completed NCT00752102 Phase 4 Calcitriol (Rocaltrol®);Paricalcitol
13 Effect of Atorvastatin on Bone-vascular Axis Completed NCT02342015 Phase 4 Atorvastatin
14 Rivaroxaban Versus Warfarin in the Evaluation of Progression of Coronary Calcium Completed NCT02376010 Phase 4 rivaroxaban;Warfarin
15 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Completed NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
16 Effect of Lanthanum Carbonate and Sevelamer Hydrochloride on Gastrointestinal Calcium Absorption in Patients With Moderate to Advanced Chronic Kidney Disease Completed NCT03451019 Phase 4 Sevelamer Hydrochloride;Lanthanum Carbonate
17 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 in the Treatment of Chronic Kidney Disease Mineral and Bone Disease Completed NCT01633853 Phase 4 Vitamin D2;1,25(OH)2 Vit D3
18 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
19 Effect of Varied Dialysate Bicarbonate Levels on Phosphate and Potassium Removal: A Pilot Study Completed NCT01930370 Phase 4 Bicarbonate hemodialysis solution (low concentration);Bicarbonate hemodialysis solution (high concentration)
20 Sevelamer, Fetuin-A and Endothelial Dysfunction in CKD Completed NCT00486772 Phase 4 Sevelamer (Renagel), calcium acetate (Phos-ex)
21 Apixaban Versus Warfarin in the Evaluation of Progression of Atherosclerotic Calcification and Vulnerable Plaque Completed NCT02090075 Phase 4 apixaban;warfarin
22 Sevelamer, FGF-23 and Endothelial Dysfunction in CKD Completed NCT01135615 Phase 4 Sevelamer;calcium acetate
23 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
24 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients: A Randomized Controlled Trial Completed NCT03182699 Phase 4
25 REmoval of Free Light Chains in Hemodialysis Patients Without Multiple Myeloma. A Crossover COmpaRison of Three Different dialyzERs Completed NCT02950389 Phase 4
26 Effects of Melatonin on Progression of Coronary Artery Calcification Recruiting NCT03966235 Phase 4 Melatonin 3 mg;Placebo
27 The Effect of Replacement of Vitamin K Antagonist by Rivaroxaban With or Without Vitamin K2 Supplementation on Vascular Calcifications in Chronic Hemodialysis Patients: a Randomized Controlled Trial, Extension Study Active, not recruiting NCT03799822 Phase 4 Rivaroxaban 10 MG Oral Tablet;Vitamin K Antagonist - Drug
28 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Active, not recruiting NCT02999204 Phase 4 Vitamin D3
29 Lanthanum Carbonate Versus Calcium Carbonate for Vascular Abnormalities in Patients With Chronic Kidney Disease and Hyperphosphatemia Enrolling by invitation NCT02237534 Phase 4 Lanthanum carbonate;Calcium Carbonate
30 Effect of Paricalcitol Over Vessel Wall: Pleiotropic Analogues Vitamin D Effects Terminated NCT02372695 Phase 4 Paricalcitol
31 A Randomized Study on the Effects of Sevelamer Carbonate Versus Calcium Acetate on Biomarkers of Vascular Calcification, Inflammation, and Endothelial Dysfunction in Chronic Kidney Disease Stages 3 and 4 Terminated NCT01277497 Phase 4 Sevelamer carbonate;Calcium acetate
32 Mineral Metabolism and Vascular Effects of Vitamin D Therapy in Kidney Terminated NCT00646282 Phase 4 doxercalciferol
33 A Prospective, Randomized, Open-Label Trial Investigating the Effect of 1 Alpha Hydroxy Vitamin D2 on the Development of Coronary Calcification in New ESRD Patients Using the 1-84/7-84 PTH Ratio to Determine Dosing Withdrawn NCT00502268 Phase 4 Doxercalciferol administration;Doxercalciferol administered by 1-84-7-84
34 The Effect of Oral Magnesium Supplementation on Vascular Calcification in Chronic Kidney Disease - A Randomized Clinical Trial Unknown status NCT02542319 Phase 2, Phase 3
35 Effect of Non-calcium Phosphate Binders Versus Calcium Based Binders on Chronic Kidney Disease -Mineral and Bone Disorder in Children on Regular Hemodialysis Unknown status NCT03202407 Phase 3 Calcium acetate and sevelamer hydrochloride
36 A Prospective, Controlled, Randomized, Multicentric Study: Correction of Metabolic Acidosis With Use of Bicarbonate in Chronic Renal Insufficiency (CKD3b-4) Unknown status NCT01640119 Phase 3
37 Food Supplementation With Vitamin K2 to Activate MGP as an Endogenous Inhibitor of Vascular Calcification in Hemodialysis Patients Completed NCT01407601 Phase 3
38 Randomized Prospective Open Interventional Multi-centre Study on Finding the Optimal Dose of Vitamin K2 Supplements for Hemodialysis Patients Completed NCT01675206 Phase 3
39 The Use of Bisphosphonates to Prevent or Delay the Progression of Vascular Calcification in End-Stage Renal Disease: A Randomized Controlled Trial Completed NCT00687661 Phase 3 Bisphosphonate;Placebo
40 Effect of Spironolactone on the Progression of Coronary Calcification in Peritoneal Dialysis Patients Completed NCT03314493 Phase 3 Spironolactone 25Mg Tablet
41 Effect of Cholecalciferol on Hemodialysis Patients Completed NCT03602430 Phase 2, Phase 3 Cholecalciferol;Placebo
42 Effect of Vitamin K on Age-Related Bone Loss and Vascular Calcification Completed NCT00183001 Phase 3 Vitamin K
43 Outcome Study of Lanthanum Carbonate Compared With Calcium Carbonate on Cardiovascular Mortality and Morbidity in Patients With Chronic Kidney Disease on Hemodialysis (CKD5D) Completed NCT01578200 Phase 3 Lanthanum Carbonate;Calcium Carbonate
44 Atorvastatin Treatment to Attenuate the Progression of Cardiovascular Disease: Prospective, Randomized, Controlled Study Completed NCT00481364 Phase 3 atorvastatin;placebo
45 EPIC (Effect of PhosLo on Phosphorus Levels in Chronic Kidney Disease): A Prospective, Multicenter, Randomized, Double-Blinded, Placebo-Controlled, Parallel Arm, Study of PhosLo on Phosphorus Levels in Subjects With Chronic Kidney Disease Completed NCT00211978 Phase 3 calcium acetate;placebo
46 The Impact of Vitamin K2 and Inactive Vitamin D Supplementation on Vascular Calcification in Pediatric Patients on Regular Hemodialysis Recruiting NCT04145492 Phase 2, Phase 3 Vitamin K2;Cholecalciferol (inactive vitamin D);Vitamin K2 and Cholecalciferol
47 Evaluation of the Efficacy and Tolerability of Alendronate Versus Denosumab in Kidney Transplant Patients With Reduced Bone Mineral Density Recruiting NCT04169698 Phase 2, Phase 3 Denosumab 60 mg/ml [Prolia];Alendronate 70Mg Tab
48 Vitamin K1 to Slow Progression of Vascular Calcification in Hemodialysis Patients Active, not recruiting NCT01742273 Phase 3 Vitamin K1
49 Effect of Vitamin K2 (MK7) on Cardiovascular and Bone Disease in Dialysis Patients: A Prospective, Randomized Placebo-controlled Double Blind Trial Active, not recruiting NCT02976246 Phase 2, Phase 3
50 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet

Search NIH Clinical Center for Arterial Calcification, Generalized, of Infancy, 1

Cochrane evidence based reviews: vascular calcification

Genetic Tests for Arterial Calcification, Generalized, of Infancy, 1

Genetic tests related to Arterial Calcification, Generalized, of Infancy, 1:

# Genetic test Affiliating Genes
1 Arterial Calcification, Generalized, of Infancy, 1 29 ENPP1
2 Generalized Arterial Calcification of Infancy 29

Anatomical Context for Arterial Calcification, Generalized, of Infancy, 1

MalaCards organs/tissues related to Arterial Calcification, Generalized, of Infancy, 1:

40
Kidney, Bone, Heart, Endothelial, Skin, Testes, Liver

Publications for Arterial Calcification, Generalized, of Infancy, 1

Articles related to Arterial Calcification, Generalized, of Infancy, 1:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 6 56 61
22209248 2012
2
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 61 56 6
20137773 2010
3
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. 61 6 56
19206175 2009
4
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 61 56 6
20016754 2008
5
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 6 56 61
15940697 2005
6
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 6 56
12881724 2003
7
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. 56 6
11159191 2001
8
Hypercementosis Associated with ENPP1 Mutations and GACI. 56 61
29244957 2018
9
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. 61 56
26857895 2016
10
Generalized Arterial Calcification of Infancy 61 6
25392903 2014
11
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. 56 61
22229486 2012
12
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 61 6
15605415 2005
13
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. 61 56
6747757 1984
14
Generalized arterial calcification of infancy. 61 56
13396267 1957
15
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 56
9662402 1998
16
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. 6
8960499 1997
17
Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. 56
2118367 1990
18
Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. 56
2707283 1989
19
Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. 56
3839656 1985
20
Hypertension as the major problem of idiopathic arterial calcification of infancy. 56
6502343 1984
21
Idiopathic infantile arterial calcification: a case report and review of the literature. 56
6468446 1984
22
Idiopathic infantile arterial calcification with survival to adult life. 56
6473121 1984
23
Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. 56
416189 1978
24
Idiopathic arterial calcification in infancy. 56
4274089 1974
25
Idiopathic infantile arterial calcification--a misnomer? 56
4196111 1970
26
Arterial medial calcification of infancy in brothers. 56
5433908 1970
27
Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. 56
13661108 1959
28
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. 61
32172442 2020
29
Reversion of arterial calcification by elastin-targeted DTPA-HSA nanoparticles. 61
32151731 2020
30
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. 61
31826312 2020
31
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 61
31843680 2020
32
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. 61
31805212 2020
33
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate. 61
31646622 2019
34
Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report 61
30525344 2019
35
Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders. 61
30639429 2019
36
No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia. 61
30825650 2019
37
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development. 61
30414410 2019
38
Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation. 61
30206659 2018
39
ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP. 61
30369595 2018
40
ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy. 61
30158213 2018
41
Coronary pathology of inherited generalized arterial calcification of infancy: a case report. 61
30005391 2018
42
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. 61
29976176 2018
43
Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ). 61
30112102 2018
44
Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet. 61
30713844 2018
45
Oral administration of pyrophosphate inhibits connective tissue calcification. 61
28701330 2017
46
[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review]. 61
29141319 2017
47
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. 61
28585220 2017
48
Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice. 61
28416300 2017
49
Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. 61
28402956 2017
50
Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016. 61
28340679 2017

Variations for Arterial Calcification, Generalized, of Infancy, 1

ClinVar genetic disease variations for Arterial Calcification, Generalized, of Infancy, 1:

6 (show top 50) (show all 211) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ENPP1 NM_006208.3(ENPP1):c.2101-2A>TSNV Pathogenic 807411 6:132203483-132203483 6:131882343-131882343
2 ENPP1 NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs)deletion Pathogenic 13587 rs1554203715 6:132185691-132185701 6:131864551-131864561
3 ENPP1 NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)SNV Pathogenic 13588 rs121918024 6:132198145-132198145 6:131877005-131877005
4 ENPP1 NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)SNV Pathogenic 13591 rs121918025 6:132182844-132182844 6:131861704-131861704
5 ENPP1 NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe)SNV Pathogenic 13592 rs121918026 6:132186026-132186026 6:131864886-131864886
6 ENPP1 NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)SNV Pathogenic 13594 rs121908248 6:132181528-132181528 6:131860388-131860388
7 ENPP1 NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)SNV Pathogenic 13597 rs267606784 6:132179875-132179875 6:131858735-131858735
8 ENPP1 ENPP1, 2-BP DEL, 878AAdeletion Pathogenic 13598
9 ENPP1 NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)SNV Pathogenic 29843 rs387906673 6:132195454-132195454 6:131874314-131874314
10 ENPP1 NM_006208.3(ENPP1):c.795+1G>ASNV Pathogenic 29844 rs753851892 6:132179888-132179888 6:131858748-131858748
11 ENPP1 NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)SNV Pathogenic 13585 rs121918023 6:132211550-132211550 6:131890410-131890410
12 ENPP1 NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn)SNV Likely pathogenic 870410 6:132198177-132198177 6:131877037-131877037
13 ENPP1 NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)SNV Likely pathogenic 870422 6:132206135-132206135 6:131884995-131884995
14 ENPP1 NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)SNV Likely pathogenic 547984 rs763922486 6:132171139-132171139 6:131849999-131849999
15 ENPP1 NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala)SNV Likely pathogenic 634992 rs1562523328 6:132182819-132182819 6:131861679-131861679
16 ENPP1 NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)SNV Conflicting interpretations of pathogenicity 788102 6:132207719-132207719 6:131886579-131886579
17 ENPP1 NM_006208.3(ENPP1):c.522C>T (p.Gly174=)SNV Conflicting interpretations of pathogenicity 722482 6:132172373-132172373 6:131851233-131851233
18 ENPP1 NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=)SNV Conflicting interpretations of pathogenicity 732180 6:132196933-132196933 6:131875793-131875793
19 ENPP1 NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)SNV Conflicting interpretations of pathogenicity 547983 rs373044722 6:132194066-132194066 6:131872926-131872926
20 ENPP1 NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)SNV Conflicting interpretations of pathogenicity 29842 rs374270497 6:132181644-132181644 6:131860504-131860504
21 ENPP1 NM_006208.3(ENPP1):c.-10C>TSNV Conflicting interpretations of pathogenicity 193334 rs750410843 6:132129166-132129166 6:131808026-131808026
22 ENPP1 NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)SNV Conflicting interpretations of pathogenicity 194855 rs548504035 6:132198199-132198199 6:131877059-131877059
23 ENPP1 NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)SNV Conflicting interpretations of pathogenicity 282087 rs777367269 6:132198164-132198164 6:131877024-131877024
24 ENPP1 NM_006208.3(ENPP1):c.-13G>ASNV Conflicting interpretations of pathogenicity 285777 rs535293574 6:132129163-132129163 6:131808023-131808023
25 ENPP1 NM_006208.3(ENPP1):c.313+9GT[16]short repeat Conflicting interpretations of pathogenicity 355334 rs59956343 6:132168997-132169002 6:131847857-131847862
26 ENPP1 NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)SNV Conflicting interpretations of pathogenicity 355354 rs73541508 6:132211630-132211630 6:131890490-131890490
27 ENPP1 NM_006208.3(ENPP1):c.313+9GT[17]short repeat Conflicting interpretations of pathogenicity 355333 rs59956343 6:132168997-132169000 6:131847857-131847860
28 ENPP1 NM_006208.3(ENPP1):c.313+9GT[20]short repeat Conflicting interpretations of pathogenicity 355328 rs59956343 6:132168996-132168997 6:131847856-131847857
29 ENPP1 NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)SNV Conflicting interpretations of pathogenicity 435061 rs200239821 6:132206095-132206095 6:131884955-131884955
30 ENPP1 NM_006208.3(ENPP1):c.*1499C>TSNV Uncertain significance 355392 rs541116091 6:132213150-132213150 6:131892010-131892010
31 ENPP1 NM_006208.3(ENPP1):c.*1221A>GSNV Uncertain significance 355382 rs537272519 6:132212872-132212872 6:131891732-131891732
32 ENPP1 NM_006208.3(ENPP1):c.*1256dupduplication Uncertain significance 355385 rs34545497 6:132212888-132212889 6:131891748-131891749
33 ENPP1 NM_006208.3(ENPP1):c.*2342G>TSNV Uncertain significance 355405 rs570500845 6:132213993-132213993 6:131892853-131892853
34 ENPP1 NM_006208.3(ENPP1):c.*4586G>ASNV Uncertain significance 355432 rs886061083 6:132216237-132216237 6:131895097-131895097
35 ENPP1 NM_006208.3(ENPP1):c.332G>A (p.Arg111His)SNV Uncertain significance 355337 rs749866787 6:132171148-132171148 6:131850008-131850008
36 ENPP1 NM_006208.3(ENPP1):c.*4346T>ASNV Uncertain significance 355430 rs374532158 6:132215997-132215997 6:131894857-131894857
37 ENPP1 NM_006208.3(ENPP1):c.21G>T (p.Ala7=)SNV Uncertain significance 355324 rs886061063 6:132129196-132129196 6:131808056-131808056
38 ENPP1 NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTinsertion Uncertain significance 355331 rs879243445 6:132168996-132168997 6:131847856-131847857
39 ENPP1 NM_006208.3(ENPP1):c.1540T>C (p.Leu514=)SNV Uncertain significance 355342 rs536023117 6:132194165-132194165 6:131873025-131873025
40 ENPP1 NM_006208.3(ENPP1):c.*485C>ASNV Uncertain significance 355364 rs563326994 6:132212136-132212136 6:131890996-131890996
41 ENPP1 NM_006208.3(ENPP1):c.*536T>CSNV Uncertain significance 355365 rs184796209 6:132212187-132212187 6:131891047-131891047
42 ENPP1 NM_006208.3(ENPP1):c.*38G>ASNV Uncertain significance 355355 rs191654371 6:132211689-132211689 6:131890549-131890549
43 ENPP1 NM_006208.3(ENPP1):c.*467A>CSNV Uncertain significance 355363 rs866470811 6:132212118-132212118 6:131890978-131890978
44 ENPP1 NM_006208.3(ENPP1):c.*1236_*1238deldeletion Uncertain significance 355383 rs138970138 6:132212886-132212888 6:131891746-131891748
45 ENPP1 NM_006208.3(ENPP1):c.*1257deldeletion Uncertain significance 355387 rs886061072 6:132212908-132212908 6:131891768-131891768
46 ENPP1 NM_006208.3(ENPP1):c.*1290T>ASNV Uncertain significance 355388 rs886061073 6:132212941-132212941 6:131891801-131891801
47 ENPP1 NM_006208.3(ENPP1):c.*2130C>TSNV Uncertain significance 355402 rs886061076 6:132213781-132213781 6:131892641-131892641
48 ENPP1 NM_006208.3(ENPP1):c.*888C>TSNV Uncertain significance 355374 rs886061069 6:132212539-132212539 6:131891399-131891399
49 ENPP1 NM_006208.3(ENPP1):c.*3126C>TSNV Uncertain significance 355411 rs886061078 6:132214777-132214777 6:131893637-131893637
50 ENPP1 NM_006208.3(ENPP1):c.2230+13C>TSNV Uncertain significance 355351 rs537428242 6:132203627-132203627 6:131882487-131882487

UniProtKB/Swiss-Prot genetic disease variations for Arterial Calcification, Generalized, of Infancy, 1:

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 ENPP1 p.Gly342Val VAR_037433 rs121918025
2 ENPP1 p.Pro305Thr VAR_067912 rs374270497
3 ENPP1 p.Asp538His VAR_067913 rs387906673
4 ENPP1 p.Gly586Arg VAR_067914 rs777367269
5 ENPP1 p.Cys126Arg VAR_077256
6 ENPP1 p.Cys195Arg VAR_077259 rs763457176
7 ENPP1 p.Cys195Ser VAR_077260
8 ENPP1 p.Asp218Val VAR_077262 rs123118287
9 ENPP1 p.Tyr301Cys VAR_077266
10 ENPP1 p.Arg456Gln VAR_077268 rs765071179
11 ENPP1 p.Tyr471Cys VAR_077269 rs148462924
12 ENPP1 p.His500Pro VAR_077271
13 ENPP1 p.Ser504Arg VAR_077272
14 ENPP1 p.Tyr513Cys VAR_077273 rs124392003
15 ENPP1 p.Tyr570Cys VAR_077274 rs140248167
16 ENPP1 p.Tyr659Cys VAR_077276 rs143393727
17 ENPP1 p.Cys726Arg VAR_077278
18 ENPP1 p.His777Arg VAR_077279 rs147346173
19 ENPP1 p.Asn792Ser VAR_077280 rs370184526
20 ENPP1 p.Asp804His VAR_077281
21 ENPP1 p.Arg888Trp VAR_077283 rs184483616

Expression for Arterial Calcification, Generalized, of Infancy, 1

Search GEO for disease gene expression data for Arterial Calcification, Generalized, of Infancy, 1.

Pathways for Arterial Calcification, Generalized, of Infancy, 1

Pathways related to Arterial Calcification, Generalized, of Infancy, 1 according to KEGG:

36
# 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, Generalized, of Infancy, 1

Sources for Arterial Calcification, Generalized, of Infancy, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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