GACI1
MCID: ART106
MIFTS: 49

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

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare 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 13
Generalized Arterial Calcification of Infancy 74 37
Idiopathic Infantile Arterial Calcification 57 74
Vascular Calcification 44 72
Gaci1 57 74
Gaci 57 74
Iiac 57 74
Calcification, Arterial, Generalized, Infancy, Type 1 40
Idiopathic Infantile Arterial Calcification; Iiac 57
Arterial Calcification of Infancy, Generalized, 1 74
Arterial Calcification, Idiopathic Infantile 57
Arteriopathy, Occlusive Infantile 57
Arterial Calcification of Infancy 72
Occlusive Infantile Arteriopathy 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
arterial calcification, generalized, of infancy, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

KEGG 37 H01002
MeSH 44 D061205
UMLS 72 C0342649 C1859727

Summaries for Arterial Calcification, Generalized, of Infancy, 1

KEGG : 37
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 fluindione and Dalteparin 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

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)

UniProtKB/Swiss-Prot : 74 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 : 75 Generalized arterial calcification of infancy (GACI) is an extremely rare, usually fatal genetic... 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 221)
# 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 failure 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 bone disease 10.4
16 arteriosclerosis 10.4
17 lipid metabolism disorder 10.3
18 renal osteodystrophy 10.3
19 hypophosphatemic rickets, x-linked recessive 10.3
20 rickets 10.3
21 fetal edema 10.3
22 hydrops fetalis 10.3
23 peripheral vascular disease 10.2
24 hypercholesterolemia, familial, 1 10.2
25 vitamin k deficiency bleeding 10.2
26 hypophosphatemia 10.2
27 autosomal recessive disease 10.2
28 hypercementosis 10.2
29 ankylosis 10.2
30 hyperlipoproteinemia, type iii 10.1
31 coronary artery anomaly 10.1
32 diabetes mellitus 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 arteries, anomalies of 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 proteasome-associated autoinflammatory syndrome 1 10.1
45 bone mineral density quantitative trait locus 3 10.1
46 peripheral artery disease 10.1
47 hyperglycemia 10.1
48 aging 10.0
49 coronary heart disease 1 10.0
50 atrial fibrillation 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 hypophosphatemic rickets 32 occasional (7.5%) HP:0004912
3 periarticular calcification 32 occasional (7.5%) HP:0025477
4 hypertension 32 HP:0000822
5 myocardial infarction 32 HP:0001658
6 congestive heart failure 32 HP:0001635
7 arterial stenosis 32 HP:0100545
8 coronary artery calcification 32 HP:0001717
9 ankylosis 32 HP:0031013
10 growth abnormality 32 HP:0001507
11 generalized arterial calcification 32 HP:0004940

Symptoms via clinical synopsis from OMIM:

57
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

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 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 fluindione Approved, Investigational Phase 4 957-56-2
2
Dalteparin Approved Phase 4 9005-49-6
3
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
4
Ethanol Approved Phase 4 64-17-5 702
5
Atorvastatin Approved Phase 4 134523-00-5 60823
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
Phylloquinone Approved, Investigational Phase 4 84-80-0
10
Rivaroxaban Approved Phase 4 366789-02-8
11
Warfarin Approved Phase 4 81-81-2 6691 54678486
12
Calcium carbonate Approved, Investigational Phase 4 471-34-1
13
Sevelamer Approved Phase 4 52757-95-6
14
Calcium acetate Approved, Investigational Phase 4 62-54-4
15
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
16
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
17
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
18
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
20 Menaquinone Investigational Phase 4 1182-68-9
21 Hematinics Phase 4
22 Ferric Compounds Phase 4
23 Heparin, Low-Molecular-Weight Phase 4
24 Antivitamins K Phase 4
25 Dialysis Solutions Phase 4
26 Pharmaceutical Solutions Phase 4
27 Butylated Hydroxytoluene Phase 4
28 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
29 Anticholesteremic Agents Phase 4
30 Hemodialysis Solutions Phase 4
31 Antioxidants Phase 4
32 Protective Agents Phase 4
33 Central Nervous System Depressants Phase 4
34 Coagulants Phase 4
35 Antifibrinolytic Agents Phase 4
36 Vitamin K Phase 4
37 Hemostatics Phase 4
38 naphthoquinone Phase 4
39 Vitamin MK 7 Phase 4
40 Vitamin K 2 Phase 4
41 HIV Protease Inhibitors Phase 4
42
protease inhibitors Phase 4
43 Antithrombin III Phase 4
44 Serine Proteinase Inhibitors Phase 4
45 Factor Xa Inhibitors Phase 4
46 Anticoagulants Phase 4
47 Antithrombins Phase 4
48 Retinol palmitate Phase 4
49 retinol Phase 4
50 Gastrointestinal Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 138)
# 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 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
7 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
8 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)
9 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
10 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
11 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
12 Effect of Cinacalcet Treatment on Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
13 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
14 Effect of Atorvastatin on Bone-vascular Axis Completed NCT02342015 Phase 4 Atorvastatin
15 Rivaroxaban Versus Warfarin in the Evaluation of Progression of Coronary Calcium Completed NCT02376010 Phase 4 rivaroxaban;Warfarin
16 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
17 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
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 REmoval of Free Light Chains in Hemodialysis Patients Without Multiple Myeloma. A Crossover COmpaRison of Three Different dialyzERs Completed NCT02950389 Phase 4
25 Effects of Melatonin on Progression of Coronary Artery Calcification Recruiting NCT03966235 Phase 4 Melatonin 3 mg;Placebo
26 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Recruiting NCT02999204 Phase 4 Vitamin D3
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 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
29 Effect of Paricalcitol Over Vessel Wall: Pleiotropic Analogues Vitamin D Effects Terminated NCT02372695 Phase 4 Paricalcitol
30 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
31 Mineral Metabolism and Vascular Effects of Vitamin D Therapy in Kidney Terminated NCT00646282 Phase 4 doxercalciferol
32 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
33 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
34 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
35 Food Supplementation With Vitamin K2 to Activate MGP as an Endogenous Inhibitor of Vascular Calcification in Hemodialysis Patients Completed NCT01407601 Phase 3
36 Randomized Prospective Open Interventional Multi-centre Study on Finding the Optimal Dose of Vitamin K2 Supplements for Hemodialysis Patients Completed NCT01675206 Phase 3
37 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
38 Effect of Spironolactone on the Progression of Coronary Calcification in Peritoneal Dialysis Patients Completed NCT03314493 Phase 3 Spironolactone 25Mg Tablet
39 Effect of Cholecalciferol on Hemodialysis Patients Completed NCT03602430 Phase 2, Phase 3 Cholecalciferol;Placebo
40 Effect of Vitamin K on Age-Related Bone Loss and Vascular Calcification Completed NCT00183001 Phase 3 Vitamin K
41 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
42 Atorvastatin Treatment to Attenuate the Progression of Cardiovascular Disease: Prospective, Randomized, Controlled Study Completed NCT00481364 Phase 3 atorvastatin;placebo
43 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
44 The Effect of Oral Magnesium Supplementation on Vascular Calcification in Chronic Kidney Disease - A Randomized Clinical Trial Recruiting NCT02542319 Phase 2, Phase 3
45 Effect of Vitamin K2 (MK7) on Cardiovascular and Bone Disease in Dialysis Patients: A Prospective, Randomized Placebo-controlled Double Blind Trial Recruiting NCT02976246 Phase 2, Phase 3
46 Vitamin K1 to Slow Progression of Vascular Calcification in Hemodialysis Patients Active, not recruiting NCT01742273 Phase 3 Vitamin K1
47 Comparison of Nicotinamide and Sevelamer Hydrochloride on Phosphatemia Control on Chronic Hemodialysed Patients Terminated NCT01011699 Phase 3 nicotinamide;sevelamer;cinacalcet
48 Randomized Control Trial of Oral Alfacalcidol and Coronary Artery Calcification in Predialysis Chronic Kidney Disease Unknown status NCT01364688 Phase 2 oral alfacalcidol;no drug
49 Inhibit Progression of Coronary Artery Calcification With Vitamin K in HemoDialyis Patients: iPACKHD Study Unknown status NCT01528800 Phase 2 Vitamin K1;Chrystalline Lactose
50 The Treatment Effect of Intravenous Sodium Thiosulfate on Coronary Calcification in Patients on Hemodialysis Completed NCT00720772 Phase 2 25% intravenous (IV) sodium thiosulfate

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

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

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

41
Kidney, Bone, Smooth Muscle, Heart, Endothelial, Skin, Breast

Publications for Arterial Calcification, Generalized, of Infancy, 1

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

(show top 50) (show all 3811)
# Title Authors PMID Year
1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 8 71
22209248 2012
2
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 8 71
20137773 2010
3
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. 8 71
19206175 2009
4
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 8 71
20016754 2008
5
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 8 71
15940697 2005
6
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 8 71
12881724 2003
7
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. 8 71
11159191 2001
8
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. 38 8
26857895 2016
9
Hypercementosis Associated with ENPP1 Mutations and GACI. 8
29244957 2018
10
Generalized Arterial Calcification of Infancy 71
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. 8
22229486 2012
12
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 71
15605415 2005
13
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 8
9662402 1998
14
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. 71
8960499 1997
15
Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. 8
2118367 1990
16
Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. 8
2707283 1989
17
Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. 8
3839656 1985
18
Hypertension as the major problem of idiopathic arterial calcification of infancy. 8
6502343 1984
19
Idiopathic infantile arterial calcification: a case report and review of the literature. 8
6468446 1984
20
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. 8
6747757 1984
21
Idiopathic infantile arterial calcification with survival to adult life. 8
6473121 1984
22
Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. 8
416189 1978
23
Idiopathic arterial calcification in infancy. 8
4274089 1974
24
Idiopathic infantile arterial calcification--a misnomer? 8
4196111 1970
25
Arterial medial calcification of infancy in brothers. 8
5433908 1970
26
Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. 8
13661108 1959
27
Generalized arterial calcification of infancy. 8
13396267 1957
28
The effectiveness of cinacalcet: a randomized, open label study in chronic hemodialysis patients with severe secondary hyperparathyroidism. 38
31014177 2019
29
Osteogenic transdifferentiation of vascular smooth muscle cells isolated from spontaneously hypertensive rats and potential menaquinone-4 inhibiting effect. 38
30937905 2019
30
Label-free quantitative proteomics identifies Smarca4 is involved in vascular calcification. 38
30973285 2019
31
HIF-1α/PDK4/autophagy pathway protects against advanced glycation end-products induced vascular smooth muscle cell calcification. 38
31376939 2019
32
Exosomal Notch3 from high glucose-stimulated endothelial cells regulates vascular smooth muscle cells calcification/aging. 38
31220525 2019
33
The Role of Osteoprotegerin in Vascular Calcification and Bone Metabolism: The Basis for Developing New Therapeutics. 38
31197415 2019
34
Ginsenoside Rb1 inhibits vascular calcification as a selective androgen receptor modulator. 38
31319068 2019
35
Clinicopathologic Features and Calcium Deposition Patterns in Calciphylaxis: Comparison With Gangrene, Peripheral Artery Disease, Chronic Stasis, and Thrombotic Vasculopathy. 38
31192861 2019
36
Calcification biomarkers and vascular dysfunction in obesity and type 2 diabetes: influence of oral hypoglycemic agents. 38
31408377 2019
37
Impact of acetate- or citrate-acidified bicarbonate dialysate on ex vivo aorta wall calcification. 38
31388059 2019
38
The synergistic action of phosphate and interleukin-6 enhances senescence-associated calcification in vascular smooth muscle cells depending on p53. 38
31376399 2019
39
Reticulocalbin 2 enhances osteogenic differentiation of human vascular smooth muscle cells in diabetic conditions. 38
31401313 2019
40
The effect of menaquinone-7 supplementation on vascular calcification in patients with diabetes: a randomized, double-blind, placebo-controlled trial. 38
31387121 2019
41
The G-protein coupled receptor ChemR23 determines smooth muscle cell phenotypic switching to enhance high phosphate-induced vascular calcification. 38
30597013 2019
42
The effects of hyperuricemia on the differentiation and proliferation of osteoblasts and vascular smooth muscle cells are implicated in the elevated risk of osteopenia and vascular calcification in gout: An in vivo and in vitro analysis. 38
31407397 2019
43
Impact of C-reactive protein on osteo-/chondrogenic transdifferentiation and calcification of vascular smooth muscle cells. 38
31377747 2019
44
Micro RNA-192 Is Negatively Associated With Cardiovascular Events Among Wait-Listed Potential Kidney Transplant Recipients on Hemodialysis Over a 5-year Follow-up Period. 38
31399202 2019
45
Chronic kidney disease in the pathogenesis of acute ischemic stroke. 38
31366298 2019
46
Effect of spironolactone on the progression of coronary calcification in peritoneal dialysis patients: a pilot study. 38
31419271 2019
47
Improvement in wound healing, pain, and quality of life after 12 weeks of SNF472 treatment: a phase 2 open-label study of patients with calciphylaxis. 38
31401795 2019
48
Association of abdominal aortic calcification estimated by plain radiography with outcomes in hemodialysis patients: a six-year follow-up study. 38
31424612 2019
49
Sodium fluoride in cardiovascular disorders: A systematic review. 38
31388965 2019
50
Parathyroidectomy as a Cure for Calciphylaxis in a Non-Dialysis Chronic Kidney Disease Patient? 38
31395848 2019

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 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.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 6:132211530-132211530 6:131890390-131890390
16 ENPP1 NM_006208.3(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 6:132181644-132181644 6:131860504-131860504
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.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 6:132201163-132201163 6:131880023-131880023
24 ENPP1 NM_006208.3(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 6:132203627-132203627 6:131882487-131882487
25 ENPP1 NM_006208.3(ENPP1): c.2757A> T (p.Pro919=) single nucleotide variant Uncertain significance rs73541508 6:132211630-132211630 6:131890490-131890490
26 ENPP1 NM_006208.3(ENPP1): c.*459G> T single nucleotide variant Uncertain significance rs886061068 6:132212110-132212110 6:131890970-131890970
27 ENPP1 NM_006208.3(ENPP1): c.*1122A> G single nucleotide variant Uncertain significance rs148507889 6:132212773-132212773 6:131891633-131891633
28 ENPP1 NM_006208.3(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 6:132198164-132198164 6:131877024-131877024
29 ENPP1 NM_006208.3(ENPP1): c.1652A> G (p.Tyr551Cys) single nucleotide variant Uncertain significance 6:132196932-132196932 6:131875792-131875792
30 ENPP1 NM_006208.3(ENPP1): c.2330A> G (p.His777Arg) single nucleotide variant Uncertain significance 6:132206089-132206089 6:131884949-131884949
31 ENPP1 NM_006208.3(ENPP1): c.*1960C> T single nucleotide variant Uncertain significance rs538657283 6:132213611-132213611 6:131892471-131892471
32 ENPP1 NM_006208.3(ENPP1): c.*2129T> C single nucleotide variant Uncertain significance rs886061075 6:132213780-132213780 6:131892640-131892640
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.154C> T (p.Pro52Ser) single nucleotide variant Uncertain significance rs754866098 6:132129329-132129329 6:131808189-131808189
35 ENPP1 NM_006208.3(ENPP1): c.313+41_313+46dup duplication Uncertain significance rs59956343 6:132169029-132169034 6:131847889-131847894
36 ENPP1 NM_006208.3(ENPP1): c.1798T> C (p.Tyr600His) single nucleotide variant Uncertain significance rs199890118 6:132198206-132198206 6:131877066-131877066
37 ENPP1 NM_006208.3(ENPP1): c.1946-14T> C single nucleotide variant Uncertain significance rs886061067 6:132201006-132201006 6:131879866-131879866
38 ENPP1 NM_006208.3(ENPP1): c.*38G> A single nucleotide variant Uncertain significance rs191654371 6:132211689-132211689 6:131890549-131890549
39 ENPP1 NM_006208.3(ENPP1): c.*467A> C single nucleotide variant Uncertain significance rs866470811 6:132212118-132212118 6:131890978-131890978
40 ENPP1 NM_006208.3(ENPP1): c.*1236_*1238del deletion Uncertain significance rs138970138 6:132212887-132212889 6:131891747-131891749
41 ENPP1 NM_006208.3(ENPP1): c.*1257del deletion Uncertain significance rs886061072 6:132212908-132212908 6:131891768-131891768
42 ENPP1 NM_006208.3(ENPP1): c.*1290T> A single nucleotide variant Uncertain significance rs886061073 6:132212941-132212941 6:131891801-131891801
43 ENPP1 NM_006208.3(ENPP1): c.*2130C> T single nucleotide variant Uncertain significance rs886061076 6:132213781-132213781 6:131892641-131892641
44 ENPP1 NM_006208.3(ENPP1): c.*3126C> T single nucleotide variant Uncertain significance rs886061078 6:132214777-132214777 6:131893637-131893637
45 ENPP1 NM_006208.3(ENPP1): c.*888C> T single nucleotide variant Uncertain significance rs886061069 6:132212539-132212539 6:131891399-131891399
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.313+8_313+9insTTGTGT insertion Uncertain significance rs879243445 6:132168996-132168997 6:131847856-131847857
48 ENPP1 NM_006208.3(ENPP1): c.332G> A (p.Arg111His) single nucleotide variant Uncertain significance rs749866787 6:132171148-132171148 6:131850008-131850008
49 ENPP1 NM_006208.3(ENPP1): c.313+45_313+46dup duplication Uncertain significance rs59956343 6:132169033-132169034 6:131847893-131847894
50 ENPP1 NM_006208.3(ENPP1): c.1540T> C (p.Leu514=) single nucleotide variant Uncertain significance rs536023117 6:132194165-132194165 6:131873025-131873025

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

74 (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:

37
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Starch and sucrose metabolism hsa00500
3 Riboflavin metabolism hsa00740
4 Nicotinate and nicotinamide metabolism hsa00760
5 Pantothenate and CoA biosynthesis hsa00770
6 Metabolic pathways hsa01100

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 HGMD
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33 ICD10
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51 NDF-RT
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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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