GACI1
MCID: ART106
MIFTS: 48

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 57 29 13 6
Idiopathic Infantile Arterial Calcification 57 72
Vascular Calcification 44 70
Gaci1 57 72
Gaci 57 72
Iiac 57 72
Calcification, Arterial, Generalized, Infancy, Type 1 39
Idiopathic Infantile Arterial Calcification; Iiac 57
Arterial Calcification of Infancy, Generalized, 1 72
Generalized Arterial Calcification of Infancy 72
Arterial Calcification, Idiopathic Infantile 57
Arteriopathy, Occlusive Infantile 57
Arterial Calcification of Infancy 70
Occlusive Infantile Arteriopathy 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 208000
OMIM Phenotypic Series 57 PS208000
MeSH 44 D061205
UMLS 70 C0342649 C1859727

Summaries for Arterial Calcification, Generalized, of Infancy, 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Arterial Calcification, Generalized, of Infancy, 1, also known as idiopathic infantile arterial calcification, 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). The drugs Rivaroxaban and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and smooth muscle, and related phenotypes are short stature and hypophosphatemic rickets

UniProtKB/Swiss-Prot : 72 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.

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 11.6
2 pseudoxanthoma elasticum 11.0
3 chronic kidney disease 11.0
4 arterial calcification, generalized, of infancy, 2 11.0
5 kidney disease 10.9
6 calcification of joints and arteries 10.9
7 hyperphosphatemia 10.8
8 end stage renal disease 10.8
9 hyperparathyroidism 10.7
10 uremia 10.6
11 secondary hyperparathyroidism 10.6
12 atherosclerosis susceptibility 10.6
13 arteriosclerosis 10.5
14 bone disease 10.5
15 lipid metabolism disorder 10.4
16 osteoporosis 10.4
17 bone mineral density quantitative trait locus 8 10.4
18 bone mineral density quantitative trait locus 15 10.4
19 renal osteodystrophy 10.4
20 vitamin k deficiency bleeding 10.4
21 hydrops fetalis, nonimmune 10.3
22 lymphatic malformation 7 10.3
23 congestive heart failure 10.3
24 peripheral vascular disease 10.3
25 hypercholesterolemia, familial, 1 10.3
26 diabetes mellitus 10.3
27 nephrocalcinosis 10.3
28 pulmonary hypertension 10.2
29 hemopericardium 10.2
30 pericardial effusion 10.2
31 arteries, anomalies of 10.2
32 microvascular complications of diabetes 3 10.2
33 microvascular complications of diabetes 4 10.2
34 microvascular complications of diabetes 6 10.2
35 microvascular complications of diabetes 7 10.2
36 lipoprotein quantitative trait locus 10.2
37 proteasome-associated autoinflammatory syndrome 1 10.1
38 bone mineral density quantitative trait locus 3 10.1
39 hyperglycemia 10.1
40 hypophosphatemic rickets, x-linked recessive 10.1
41 rickets 10.1
42 pseudoxanthoma elasticum, forme fruste 10.1
43 endocardial fibroelastosis 10.1
44 hypophosphatemic rickets, x-linked dominant 10.1
45 angioid streaks 10.1
46 bone resorption disease 10.1
47 synostosis 10.1
48 osteopetrosis 10.1
49 hypophosphatasia 10.1
50 vascular disease 10.1

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 hypertension 31 HP:0000822
5 congestive heart failure 31 HP:0001635
6 myocardial infarction 31 HP:0001658
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®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
hypertension
generalized calcification of arteries, including aorta and intraparenchymal arteries
arterial stenosis due to myointimal proliferation
panarteritis (rare)

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 Heart:
myocardial infarction
coronary artery calcification
heart failure
cardiac dysfunction

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 (Updated 20-May-2021)

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 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivaroxaban Approved Phase 4 366789-02-8
2
Warfarin Approved Phase 4 81-81-2 6691 54678486
3
Dalteparin Approved Phase 4 9005-49-6
4
Cinacalcet Approved Phase 4 226256-56-0 156419
5
fluindione Approved, Investigational Phase 4 957-56-2
6
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
7
Phenindione Approved, Investigational Phase 4 83-12-5 4760
8
Ethanol Approved Phase 4 64-17-5 702
9
Sevelamer Approved Phase 4 52757-95-6
10
Calcium acetate Approved, Investigational Phase 4 62-54-4
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
13 Pharmaceutical Solutions Phase 4
14 Micronutrients Phase 4
15 Trace Elements Phase 4
16 Serine Proteinase Inhibitors Phase 4
17 Nutrients Phase 4
18 Antithrombins Phase 4
19 Vitamins Phase 4
20 Factor Xa Inhibitors Phase 4
21 Antithrombin III Phase 4
22 HIV Protease Inhibitors Phase 4
23 Anticoagulants Phase 4
24
protease inhibitors Phase 4
25 Antioxidants Phase 4
26 Heparin, Low-Molecular-Weight Phase 4
27 Hormone Antagonists Phase 4
28 Calciferol Phase 4
29 Vasoconstrictor Agents Phase 4
30 Antivitamins K Phase 4
31 Butylated Hydroxytoluene Phase 4
32 Chelating Agents Phase 4
33 Hormones Phase 4
34 Calcium, Dietary Phase 4
35
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
36
Calcium Nutraceutical Phase 4 7440-70-2 271
37
Magnesium hydroxide Approved, Investigational Phase 2, Phase 3 1309-42-8
38
Calcium carbonate Approved, Investigational Phase 3 471-34-1
39
Atorvastatin Approved Phase 3 134523-00-5 60823
40
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
41
Vitamin K1 Approved, Investigational Phase 2, Phase 3 84-80-0 5284607
42
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
43
Menadione Approved, Nutraceutical Phase 2, Phase 3 58-27-5 4055
44
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
46
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
47 Menaquinone Investigational Phase 2, Phase 3 1182-68-9
48 Gastrointestinal Agents Phase 3
49 Antacids Phase 3
50 Anti-Ulcer Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 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)
2 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
3 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
4 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
5 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
6 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
7 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
8 Effect of Vitamin K2 Supplementation on Vascular Calcification in Hemodialysis Patients: a Controlled Randomized Trial. Completed NCT04539418 Phase 4 Vitamin K 2
9 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
10 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
11 The Effect of Oral Magnesium Supplementation on Vascular Calcification in Chronic Kidney Disease - A Randomized Clinical Trial Unknown status NCT02542319 Phase 2, Phase 3
12 Food Supplementation With Vitamin K2 to Activate MGP as an Endogenous Inhibitor of Vascular Calcification in Hemodialysis Patients Completed NCT01407601 Phase 3
13 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
14 Randomized Prospective Open Interventional Multi-centre Study on Finding the Optimal Dose of Vitamin K2 Supplements for Hemodialysis Patients Completed NCT01675206 Phase 3
15 Atorvastatin Treatment to Attenuate the Progression of Cardiovascular Disease: Prospective, Randomized, Controlled Study Completed NCT00481364 Phase 3 atorvastatin;placebo
16 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
17 Effect of Cholecalciferol on Hemodialysis Patients Completed NCT03602430 Phase 2, Phase 3 Cholecalciferol;Placebo
18 Effect of Spironolactone on the Progression of Coronary Calcification in Peritoneal Dialysis Patients Completed NCT03314493 Phase 3 Spironolactone 25Mg Tablet
19 Effect of Vitamin K on Age-Related Bone Loss and Vascular Calcification Completed NCT00183001 Phase 3 Vitamin K
20 Comparative Study Evaluating the Effect of the Administration of Vitamin K1 Versus Vitamin K2 on Vascular Calcification in Dialysis Patients Recruiting NCT04477811 Phase 2, Phase 3 Vitamin K1;Vitamin k2
21 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
22 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
23 Vitamin K1 to Slow Progression of Vascular Calcification in Hemodialysis Patients Terminated NCT01742273 Phase 3 Vitamin K1
24 Randomized Control Trial of Oral Alfacalcidol and Coronary Artery Calcification in Predialysis Chronic Kidney Disease Unknown status NCT01364688 Phase 2 oral alfacalcidol;no drug
25 The Treatment Effect of Intravenous Sodium Thiosulfate on Coronary Calcification in Patients on Hemodialysis Completed NCT00720772 Phase 2 25% intravenous (IV) sodium thiosulfate
26 A Double-blind, Randomised, Placebo-controlled Study to Assess the Effect of SNF472 on Progression of Cardiovascular Calcification on Top of Standard of Care in End-stage-renal-disease (ESRD) Patients on Hemodialysis (HD) Completed NCT02966028 Phase 2 SNF472;Placebo
27 The Effect of Etelcalcetide on Bone-tissue Properties and Calcification Propensity in End Stage Kidney Disease Recruiting NCT03960437 Phase 2 Etelcalcetide
28 Treatment to Reduce Vascular Calcification in Hemodialysis Patients Using Vitamin K (Trevasc-HDK): A Study Protocol for a Randomized Controlled Trial Active, not recruiting NCT02870829 Phase 2 menaquinone-7
29 A Comparative Trial of Calcitriol Versus Placebo for the Preservation of Bone Mass and Strength After Kidney Transplantation Active, not recruiting NCT02224144 Phase 2 Vitamin D3;Calcitriol;Placebo
30 Arterial Imaging of Inflammation and Resolution After Endovascular Surgery Completed NCT03590769 Phase 1 18F-FDG
31 Effects of UFH and LMWH on Osteoprotegerin and RANKL Plasma Levels in Hemodialysis Patients Unknown status NCT00669721 law molecular weigth heparin;unfractioned heparin
32 Aortic Calcification and Vitamin K Antagonists Unknown status NCT02823093
33 Comparison of Medical (Oral Cinacalcet) Therapy Versus Surgical Therapy (Total Parathyroidectomy) on Vascular/Valvular Calcification in Chronic Peritoneal Dialysis Patients With Secondary Hyperparathyroidism - A Pilot Study Unknown status NCT01447368 Cinacalcet
34 Molecular and Cellular Mechanism of Vascular Ageing in Chronic Kidney Disease: Role of Theranova Dialyzer on Mineral Metabolism Disorder, Oxidative Stress, and Vascular Calcification Unknown status NCT03169400
35 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Unknown status NCT03758534
36 Calcify2D: Assessment of Observer Variability of a New Software for the Quantitative Evaluation of Abdominal Aortic Calcifications, Vertebral Morphometry and Their Relationships in Fragile Patients, Compared to Current Visual Scoring Methods Unknown status NCT03839732
37 Effect of Phosphorus on Valvular and Vascular Calcification in ESRD Unknown status NCT03360331
38 Relation Between Plasma Concentration of Osteopontin Level and Vascular Calcification in Patients With Diabetic Nephropathy Unknown status NCT03820635
39 Sub-total Parathyroidectomy Reduces Vascular Calcification in Haemodialysis Patients Unknown status NCT01140490
40 Determinants of Vascular Calcification in Chronic Renal Failure : Impact of Pyrophosphate Levels After Renal Transplantation Unknown status NCT03462238
41 A Prospective Observational Study to Investigate the Natural History of Bone Histomorphometry and Vascular Calcification in Dialysis-dependent Patients Before and After Renal Transplantation. Unknown status NCT01886950
42 A Double Blind Randomized Placebo Controlled Trial of Maintenance of Normal Serum Phosphorus in Chronic Kidney Disease (CKD) Completed NCT00785629 Calcium acetate;Lanthanum Carbonate;Sevelamer Carbonate;Placebo
43 Arterial Stiffness and Decreased Bone Buffering Capacity in Hemodialysis Patients Completed NCT00485706
44 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
45 Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German Completed NCT04372446
46 Comparison of Vascular Calcification Between Kidney Transplant Recipients and Predialysis Chronic Kidney Disease and Its Association With Serum Magnesium Completed NCT01293786
47 Correlation of a-Klotho Levels With the Severity of Calcification in the Coronary Arteries and Aortic Valve in Patients With Chronic Kidney Disease Completed NCT03858413
48 Modulation of Vascular Calcification in Chronic Dialysis Patients Completed NCT03104166
49 Effect of Gemigliptin on Biomarkers of Kidney Injury and Vascular Calcification in Diabetic Nephropathy: A Randomized Controlled Trial Completed NCT04705506 Gemigliptin
50 Pilot Study to Investigate the Effects of Increased Dialysate Magnesium and Dialysate Bicarbonate on the Calcification Propensity of Serum Completed NCT02621762

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

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

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

40
Kidney, Bone, Smooth Muscle, Heart, Endothelial, Bone Marrow, Breast

Publications for Arterial Calcification, Generalized, of Infancy, 1

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

(show top 50) (show all 4441)
# Title Authors PMID Year
1
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. 6 57
31444901 2019
2
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 6 57
22209248 2012
3
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 6 57
20137773 2010
4
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. 6 57
19206175 2009
5
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 57 6
20016754 2008
6
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 6 57
15940697 2005
7
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 57 6
12881724 2003
8
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. 61 57
26857895 2016
9
Hypercementosis Associated with ENPP1 Mutations and GACI. 57
29244957 2018
10
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. 6
27467858 2016
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. 57
22229486 2012
12
Generalized arterial calcification of infancy: two siblings with prolonged survival. 6
16315058 2006
13
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 6
15605415 2005
14
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. 57
11159191 2001
15
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 57
9662402 1998
16
Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. 57
2118367 1990
17
Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. 57
2707283 1989
18
Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. 57
3839656 1985
19
Hypertension as the major problem of idiopathic arterial calcification of infancy. 57
6502343 1984
20
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. 57
6747757 1984
21
Idiopathic infantile arterial calcification: a case report and review of the literature. 57
6468446 1984
22
Idiopathic infantile arterial calcification with survival to adult life. 57
6473121 1984
23
Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. 57
416189 1978
24
Idiopathic arterial calcification in infancy. 57
4274089 1974
25
Idiopathic infantile arterial calcification--a misnomer? 57
4196111 1970
26
Arterial medial calcification of infancy in brothers. 57
5433908 1970
27
Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. 57
13661108 1959
28
Generalized arterial calcification of infancy. 57
13396267 1957
29
Histopathological assessment of radial artery calcification in patients with end-stage kidney disease. 61
33685341 2021
30
Adipokines in vascular calcification. 61
33476587 2021
31
Late-onset hypogonadism: Clinical evidence, biological aspects and evolutionary considerations. 61
33610812 2021
32
The Role of NLRP3 Inflammasome Activities in Bone Diseases and Vascular Calcification. 61
33215255 2021
33
Statin Effects on Vascular Calcification: Microarchitectural Changes in Aortic Calcium Deposits in Aged Hyperlipidemic Mice. 61
33472400 2021
34
DNA Damage Response, Runx2 (Runt-Related Transcription Factor 2), and Vascular Calcification. 61
33760633 2021
35
2-Oxothiazolidine-4-carboxylic acid inhibits vascular calcification via induction of glutathione synthesis. 61
32918744 2021
36
Abdominal aortic calcification is associated with decline in handgrip strength in the U.S. adult population ≥40 years of age. 61
33573921 2021
37
Could aortic arch calcification help in detection of hypertensive retinopathy? 61
33234808 2021
38
Nanoanalytical analysis of bisphosphonate-driven alterations of microcalcifications using a 3D hydrogel system and in vivo mouse model. 61
33795519 2021
39
Metformin attenuates hyperlipidaemia-associated vascular calcification through anti-ferroptotic effects. 61
33513420 2021
40
Vascular calcification and response to neoadjuvant therapy in locally advanced rectal cancer: an exploratory study. 61
33710416 2021
41
The CAD risk locus 9p21 increases the risk of vascular calcification in an iPSC-derived VSMC model. 61
33676559 2021
42
The receptor activator of nuclear factor κΒ ligand receptor leucine-rich repeat-containing G-protein-coupled receptor 4 contributes to parathyroid hormone-induced vascular calcification. 61
33367746 2021
43
The emerging role of iron in heart failure and vascular calcification in CKD. 61
33777358 2021
44
High-mobility group box-1 promotes vascular calcification in diabetic mice via endoplasmic reticulum stress. 61
33724642 2021
45
Chronic Kidney Disease-Induced Vascular Calcification Impairs Bone Metabolism. 61
33301619 2021
46
Inhibition of endoplasmic reticulum stress mediates the ameliorative effect of apelin on vascular calcification. 61
33279504 2021
47
A biomarker for vascular calcification: Shedding light on an unfinished story? 61
33751037 2021
48
Crosstalk between Renal and Vascular Calcium Signaling: The Link between Nephrolithiasis and Vascular Calcification. 61
33808324 2021
49
Vascular calcification: New insights into endothelial cells. 61
33189731 2021
50
The Effects of Warfarin and Direct Oral Anticoagulants on Systemic Vascular Calcification: A Review. 61
33807457 2021

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 217)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENPP1 NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter) SNV Pathogenic 692042 rs756541266 GRCh37: 6:132185688-132185688
GRCh38: 6:131864548-131864548
2 ENPP1 NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) SNV Pathogenic 13585 rs121918023 GRCh37: 6:132211550-132211550
GRCh38: 6:131890410-131890410
3 ENPP1 NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) Deletion Pathogenic 13587 rs1554203715 GRCh37: 6:132185691-132185701
GRCh38: 6:131864551-131864561
4 ENPP1 NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) SNV Pathogenic 13588 rs121918024 GRCh37: 6:132198145-132198145
GRCh38: 6:131877005-131877005
5 ENPP1 NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) SNV Pathogenic 13591 rs121918025 GRCh37: 6:132182844-132182844
GRCh38: 6:131861704-131861704
6 ENPP1 NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) SNV Pathogenic 13592 rs121918026 GRCh37: 6:132186026-132186026
GRCh38: 6:131864886-131864886
7 ENPP1 NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) SNV Pathogenic 13594 rs121908248 GRCh37: 6:132181528-132181528
GRCh38: 6:131860388-131860388
8 ENPP1 NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) SNV Pathogenic 13597 rs267606784 GRCh37: 6:132179875-132179875
GRCh38: 6:131858735-131858735
9 ENPP1 ENPP1, 2-BP DEL, 878AA Deletion Pathogenic 13598 GRCh37:
GRCh38:
10 ENPP1 NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) SNV Pathogenic 29843 rs387906673 GRCh37: 6:132195454-132195454
GRCh38: 6:131874314-131874314
11 ENPP1 NM_006208.3(ENPP1):c.795+1G>A SNV Pathogenic 29844 rs753851892 GRCh37: 6:132179888-132179888
GRCh38: 6:131858748-131858748
12 ENPP1 NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) SNV Pathogenic 282087 rs777367269 GRCh37: 6:132198164-132198164
GRCh38: 6:131877024-131877024
13 ENPP1 NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) SNV Pathogenic 547983 rs373044722 GRCh37: 6:132194066-132194066
GRCh38: 6:131872926-131872926
14 ENPP1 NM_006208.3(ENPP1):c.2101-2A>T SNV Pathogenic 807411 rs1585841844 GRCh37: 6:132203483-132203483
GRCh38: 6:131882343-131882343
15 ENPP1 NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) SNV Pathogenic 13591 rs121918025 GRCh37: 6:132182844-132182844
GRCh38: 6:131861704-131861704
16 ENPP1 NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg) SNV Pathogenic 988599 GRCh37: 6:132172407-132172407
GRCh38: 6:131851267-131851267
17 ENPP1 NM_006208.3(ENPP1):c.1006del (p.Ile336fs) Deletion Pathogenic 1034253 GRCh37: 6:132182825-132182825
GRCh38: 6:131861685-131861685
18 ENPP1 NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) SNV Pathogenic 29842 rs374270497 GRCh37: 6:132181644-132181644
GRCh38: 6:131860504-131860504
19 ENPP1 NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) SNV Pathogenic/Likely pathogenic 547983 rs373044722 GRCh37: 6:132194066-132194066
GRCh38: 6:131872926-131872926
20 ENPP1 NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) SNV Likely pathogenic 634992 rs1562523328 GRCh37: 6:132182819-132182819
GRCh38: 6:131861679-131861679
21 ENPP1 NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) SNV Likely pathogenic 547984 rs763922486 GRCh37: 6:132171139-132171139
GRCh38: 6:131849999-131849999
22 ENPP1 NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) SNV Likely pathogenic 870410 GRCh37: 6:132198177-132198177
GRCh38: 6:131877037-131877037
23 ENPP1 NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) SNV Likely pathogenic 870422 GRCh37: 6:132206135-132206135
GRCh38: 6:131884995-131884995
24 ENPP1 NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) SNV Conflicting interpretations of pathogenicity 788102 rs367759638 GRCh37: 6:132207719-132207719
GRCh38: 6:131886579-131886579
25 ENPP1 NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) SNV Uncertain significance 596161 rs140729669 GRCh37: 6:132211497-132211497
GRCh38: 6:131890357-131890357
26 ENPP1 NM_006208.3(ENPP1):c.*392G>A SNV Uncertain significance 904920 GRCh37: 6:132212043-132212043
GRCh38: 6:131890903-131890903
27 ENPP1 NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) SNV Uncertain significance 800816 rs751147622 GRCh37: 6:132185686-132185686
GRCh38: 6:131864546-131864546
28 ENPP1 NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) SNV Uncertain significance 904076 GRCh37: 6:132206139-132206139
GRCh38: 6:131884999-131884999
29 ENPP1 NM_006208.3(ENPP1):c.*128C>T SNV Uncertain significance 904142 GRCh37: 6:132211779-132211779
GRCh38: 6:131890639-131890639
30 ENPP1 NM_006208.3(ENPP1):c.*1618A>G SNV Uncertain significance 905122 GRCh37: 6:132213269-132213269
GRCh38: 6:131892129-131892129
31 ENPP1 NM_006208.3(ENPP1):c.*1716G>A SNV Uncertain significance 905123 GRCh37: 6:132213367-132213367
GRCh38: 6:131892227-131892227
32 ENPP1 NM_006208.3(ENPP1):c.*2543T>G SNV Uncertain significance 905182 GRCh37: 6:132214194-132214194
GRCh38: 6:131893054-131893054
33 ENPP1 NM_006208.3(ENPP1):c.*2564A>G SNV Uncertain significance 905183 GRCh37: 6:132214215-132214215
GRCh38: 6:131893075-131893075
34 ENPP1 NM_006208.3(ENPP1):c.*3600G>T SNV Uncertain significance 905237 GRCh37: 6:132215251-132215251
GRCh38: 6:131894111-131894111
35 ENPP1 NM_006208.3(ENPP1):c.*3602C>T SNV Uncertain significance 905238 GRCh37: 6:132215253-132215253
GRCh38: 6:131894113-131894113
36 ENPP1 NM_006208.3(ENPP1):c.*4047C>T SNV Uncertain significance 905295 GRCh37: 6:132215698-132215698
GRCh38: 6:131894558-131894558
37 ENPP1 NM_006208.3(ENPP1):c.*516T>C SNV Uncertain significance 906514 GRCh37: 6:132212167-132212167
GRCh38: 6:131891027-131891027
38 ENPP1 NM_006208.3(ENPP1):c.*848T>C SNV Uncertain significance 904978 GRCh37: 6:132212499-132212499
GRCh38: 6:131891359-131891359
39 ENPP1 NM_006208.3(ENPP1):c.*902G>A SNV Uncertain significance 906566 GRCh37: 6:132212553-132212553
GRCh38: 6:131891413-131891413
40 ENPP1 NM_006208.3(ENPP1):c.*1239T>C SNV Uncertain significance 906628 GRCh37: 6:132212890-132212890
GRCh38: 6:131891750-131891750
41 ENPP1 NM_006208.3(ENPP1):c.*1858C>G SNV Uncertain significance 906699 GRCh37: 6:132213509-132213509
GRCh38: 6:131892369-131892369
42 ENPP1 NM_006208.3(ENPP1):c.*1864T>C SNV Uncertain significance 906700 GRCh37: 6:132213515-132213515
GRCh38: 6:131892375-131892375
43 ENPP1 NM_006208.3(ENPP1):c.*1940T>G SNV Uncertain significance 906701 GRCh37: 6:132213591-132213591
GRCh38: 6:131892451-131892451
44 ENPP1 NM_006208.3(ENPP1):c.*3718C>T SNV Uncertain significance 906830 GRCh37: 6:132215369-132215369
GRCh38: 6:131894229-131894229
45 ENPP1 NM_006208.3(ENPP1):c.*4287G>A SNV Uncertain significance 905297 GRCh37: 6:132215938-132215938
GRCh38: 6:131894798-131894798
46 ENPP1 NM_006208.3(ENPP1):c.*4332C>T SNV Uncertain significance 906897 GRCh37: 6:132215983-132215983
GRCh38: 6:131894843-131894843
47 ENPP1 NM_006208.3(ENPP1):c.*4369C>T SNV Uncertain significance 906898 GRCh37: 6:132216020-132216020
GRCh38: 6:131894880-131894880
48 ENPP1 NM_006208.3(ENPP1):c.*4471C>T SNV Uncertain significance 906899 GRCh37: 6:132216122-132216122
GRCh38: 6:131894982-131894982
49 ENPP1 NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) SNV Uncertain significance 906279 GRCh37: 6:132129389-132129389
GRCh38: 6:131808249-131808249
50 ENPP1 NM_006208.3(ENPP1):c.313+11G>T SNV Uncertain significance 907283 GRCh37: 6:132168999-132168999
GRCh38: 6:131847859-131847859

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

72 (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

GO Terms for Arterial Calcification, Generalized, of Infancy, 1

Sources for Arterial Calcification, Generalized, of Infancy, 1

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