GACI
MCID: ART035
MIFTS: 45

Arterial Calcification of Infancy (GACI)

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

Aliases & Classifications for Arterial Calcification of Infancy

MalaCards integrated aliases for Arterial Calcification of Infancy:

Name: Arterial Calcification of Infancy 12 74 52 43 15 71
Idiopathic Infantile Arterial Calcification 12 24 52 25 58
Generalized Arterial Calcification of Infancy 12 24 25 58
Occlusive Infantile Arteriopathy 52 25 58
Iiac 24 52 25
Idiopathic Obliterative Arteriopathy 25 58
Infantile Arteriosclerosis 12 58
Gaci 24 25
Diffuse Arterial Calcifying Elastopathy of Infancy 25
Generalized Arterial Calcification in Infancy 52
Coronary Sclerosis, Medial, of Infancy 6
Medial Coronary Sclerosis of Infancy 25
Arteriopathia Calcificans Infantum 25
Infantile Calcifying Arteriopathy 25

Characteristics:

Orphanet epidemiological data:

58
generalized arterial calcification of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases


External Ids:

Disease Ontology 12 DOID:0050644
MeSH 43 C537440
MESH via Orphanet 44 C537440
ICD10 via Orphanet 33 Q28.8
UMLS via Orphanet 72 C0264955 C1859727
Orphanet 58 ORPHA51608
UMLS 71 C1859727

Summaries for Arterial Calcification of Infancy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 51608 Definition A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension . Epidemiology Approximately 300 cases have been reported worldwide in the medical literature. The prevalence is unknown; however, based on carrier frequency of the recognized pathogenic variants, the frequency of 1/566,000 has been suggested. Clinical description Disease onset is either early (in utero to within the first week of life) or late (median age three months). Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. Additional findings can include extravascular calcifications (particularly periarticular), typical skin and retinal manifestations of pseudoxanthoma elasticum, hearing loss , and development of rickets after infancy. Pathologically, the condition is characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima, which causes luminal narrowing. Etiology Causal mutations have been identified in the genes ENPP1 (chromosome 6q23.2) and ABCC6 (chromosome 16p13.11) respectively encoding ectonucleotide pyrophosphatase/ phosphodiesterase 1 and multidrug resistance-associated protein 6, a transmembrane protein belonging to the family of ATP-binding cassette (ABC) transport proteins. Pathological variants lead to aberrant tissue mineralization, and the subsequent luminal narrowing invariably leads to coronary arterial occlusion and myocardial ischemia or stenoses of different arteries leading to end-organ damage. ENPP1 mutations also cause autosomal recessive hypophosphatemic rickets, which is associated with longer survival. Diagnostic methods Diagnosis of is made by the combination of clinical, imaging or histopathological findings, together with genetic results. The preferred imaging modality to assess calcifications extension is whole-body computed tomography combined with CT angiography . Differential diagnosis Differential diagnosis includes endocardial fibroelastosis, myocardititis, storage disorders, infarction, anomalous insertion of the coronary arteries, cardiac anomalies, metastatic calcification due to renal disease , hypervitaminosis D, infections, and non-immune fetal hydrops, Takayasu arteriitis. Antenatal diagnosis Antenatal diagnosis has been reported, with findings of arterial calcifications, hydrops, abnormal cardiac contractility, and hyperechoic kidneys. The diagnosis is essential for genetic counseling , and for screening of siblings at risk for developing the disease. Genetic counseling The pattern of inheritance is autosomal recessive. The sibling-recurrence risk is 25%. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known. Management and treatment Use of bisphosphonates appears to significantly increase survival. Standard anti-hypertensive therapy is warranted for hypertension. Aspirin therapy is warranted in those with severe coronary stenosis who are at increased risk for coronary thrombosis. Anti-hypertensive therapy is warranted for hypertension. Treatment of hypophosphatemic rickets involves calcitriol and oral phosphate supplements. It seems prudent to avoid the use of warfarin if possible. Where endotracheal intubation is required, lateral cervical spine x-ray is recommended to evaluate for cervical spine fusion, and thereby avoid secondary complications. Prognosis Prognosis is poor; most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months. Nevertheless, long-term survival into the second and third decade has been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Arterial Calcification of Infancy, also known as idiopathic infantile arterial calcification, is related to calcification of joints and arteries and hypercementosis. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are NAD metabolism and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include heart, skin and eye, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.

Genetics Home Reference : 25 Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly). People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets). Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination. As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.

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

GeneReviews: NBK253403

Related Diseases for Arterial Calcification of Infancy

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 calcification of joints and arteries 31.0 NT5E MGP GGCX ENPP1 ARSJ ANKH
2 hypercementosis 30.4 SPTA1 PHOSPHO1 ENPP1
3 ankylosis 30.4 SLC20A2 ENPP1 ANKH
4 brittle bone disorder 30.3 SPTA1 SPP1 PHEX NT5E ALPL
5 hypophosphatemic rickets, x-linked recessive 30.3 SLC34A3 PHEX FGF23 ENPP1 DMP1
6 arteriosclerosis 29.7 SPP1 MGP KL ACE
7 pseudoxanthoma elasticum 29.6 SPP1 MGP GGCX ENPP1 ANKH ALPL
8 hypervitaminosis d 29.5 KL GALNT3 FGF23
9 angioid streaks 29.4 MGP GGCX GALNT3 ENPP1 ABCC6
10 calciphylaxis 29.4 SPP1 NT5E MGP FGF23 AHSG
11 rickets 29.0 SPP1 SLC34A3 PHEX KL FGF23 ENPP1
12 nephrocalcinosis 29.0 SPTA1 SPP1 SLC34A3 PHEX FGF23 ALPL
13 hypophosphatemia 28.8 SPP1 SLC34A3 PHEX KL FGF23 ENPP1
14 chronic kidney disease 28.6 SPP1 MGP KL FGF23 ENPP1 AHSG
15 hypophosphatasia 28.6 SPTA1 SPP1 PHOSPHO1 PHEX FGF23 ENPP1
16 autosomal recessive hypophosphatemic rickets 28.2 SPP1 SLC34A3 PHEX KL GALNT3 FGF23
17 hypophosphatemic rickets, x-linked dominant 28.0 SPP1 SLC34A3 PHEX KL GALNT3 FGF23
18 calcinosis 27.6 SPP1 PHEX MGP KL GALNT3 FGF23
19 arterial calcification, generalized, of infancy, 1 12.5
20 arterial calcification, generalized, of infancy, 2 12.4
21 cystic fibrosis 10.5
22 autosomal recessive disease 10.4
23 opsismodysplasia 10.4 PHEX FGF23
24 raine syndrome 10.3 FGF23 DMP1
25 oncogenic osteomalacia 10.3 PHEX FGF23 DMP1
26 microcephaly and chorioretinopathy 1 10.3 FGF23 ALPL
27 blount's disease 10.3 SLC34A3 FGF23
28 dental pulp necrosis 10.2 NT5E DMP1
29 vitamin k deficiency bleeding 10.2 MGP GGCX
30 dentin dysplasia, type ii 10.2 SPP1 DMP1
31 craniometaphyseal dysplasia, autosomal dominant 10.2 ENPP1 ANKH ALPL
32 fanconi syndrome 10.1 SLC34A3 PHEX FGF23
33 parathyroid gland disease 10.1 PHEX KL FGF23
34 kidney hypertrophy 10.1 KL ACE
35 hypophosphatasia, infantile 10.1 SPTA1 ENPP1 ALPL
36 secondary hyperparathyroidism 10.1 PHEX KL FGF23
37 hyperparathyroidism 10.1 PHEX KL FGF23
38 hydrops fetalis, nonimmune 10.0
39 respiratory failure 10.0
40 hemopericardium 10.0
41 pericardial effusion 10.0
42 thrombocytopenia 10.0
43 congestive heart failure 10.0
44 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.0 SLC34A3 KL FGF23
45 hyperlipoproteinemia, type v 10.0 KL FGF23
46 inflammatory bowel disease 14 10.0 SPP1 NT5E
47 craniosynostosis 10.0 PHEX ENPP1 ANKH ALPL
48 atrial standstill 1 10.0
49 cardiac arrest 10.0
50 pulmonary edema 10.0

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



Diseases related to Arterial Calcification of Infancy

Symptoms & Phenotypes for Arterial Calcification of Infancy

GenomeRNAi Phenotypes related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 GGCX SLC34A3
2 Decreased viability GR00249-S 9.6 ALPL ANKH ENPP1 SPP1
3 Decreased viability GR00381-A-1 9.6 MGP NT5E SLC34A3
4 Decreased viability GR00381-A-2 9.6 MGP
5 Decreased viability GR00381-A-3 9.6 MGP
6 Decreased viability GR00386-A-1 9.6 ALPL ANKH KL SLC20A2 SLC34A3 SPTA1
7 Decreased viability GR00402-S-2 9.6 ABCC6 ENPP1

MGI Mouse Phenotypes related to Arterial Calcification of Infancy:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.5 ABCC6 ACE AHSG ALPL ANKH DMP1
2 homeostasis/metabolism MP:0005376 10.47 ABCC6 ACE AHSG ALPL ANKH DMP1
3 cardiovascular system MP:0005385 10.46 ABCC6 ACE ALPL ANKH DMP1 ENPP1
4 hematopoietic system MP:0005397 10.32 ACE ALPL ANKH DMP1 FGF23 GALNT3
5 behavior/neurological MP:0005386 10.31 ACE ALPL ANKH ENPP1 KL NT5E
6 craniofacial MP:0005382 10.29 ABCC6 ALPL ANKH DMP1 ENPP1 GALNT3
7 immune system MP:0005387 10.26 ACE ALPL ANKH DMP1 ENPP1 FGF23
8 mortality/aging MP:0010768 10.18 ACE ALPL ANKH ENPP1 FGF23 GGCX
9 limbs/digits/tail MP:0005371 10.13 AHSG ALPL ANKH DMP1 ENPP1 FGF23
10 adipose tissue MP:0005375 10.12 ACE ALPL ENPP1 GGCX KL PHEX
11 digestive/alimentary MP:0005381 10.08 ALPL FGF23 GALNT3 KL PHEX SLC34A3
12 renal/urinary system MP:0005367 10.07 ABCC6 ACE DMP1 ENPP1 FGF23 GALNT3
13 integument MP:0010771 10.06 ABCC6 ENPP1 FGF23 GALNT3 KL NT5E
14 liver/biliary system MP:0005370 9.95 ACE ENPP1 KL PHEX SLC20A2 SPP1
15 muscle MP:0005369 9.92 AHSG ALPL ANKH ENPP1 GALNT3 KL
16 reproductive system MP:0005389 9.85 ACE ALPL ANKH DMP1 FGF23 GALNT3
17 skeleton MP:0005390 9.53 AHSG ALPL ANKH DMP1 ENPP1 FGF23
18 respiratory system MP:0005388 9.5 ALPL ANKH FGF23 KL MGP SPP1

Drugs & Therapeutics for Arterial Calcification of Infancy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Recruiting NCT03758534
2 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
3 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 Recruiting NCT04372446
4 Comparative Assessment of Catheter and Thoracoscopic Approaches in Patients With Persistent and Long-standing Persistent Atrial Fibrillation Recruiting NCT04237389

Search NIH Clinical Center for Arterial Calcification of Infancy

Cochrane evidence based reviews: arterial calcification of infancy

Genetic Tests for Arterial Calcification of Infancy

Anatomical Context for Arterial Calcification of Infancy

MalaCards organs/tissues related to Arterial Calcification of Infancy:

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

Publications for Arterial Calcification of Infancy

Articles related to Arterial Calcification of Infancy:

(show top 50) (show all 224)
# Title Authors PMID Year
1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 24 6 61
22209248 2012
2
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 24 6 61
20137773 2010
3
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 6 61 24
20034067 2010
4
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. 24 6 61
19206175 2009
5
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. 24 6 61
20016754 2008
6
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. 24 6 61
16573612 2006
7
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 61 6 24
15940697 2005
8
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). 61 24 6
15605415 2005
9
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 24 6 61
12881724 2003
10
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. 61 24 6
11159191 2001
11
Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. 61 6 24
8960499 1997
12
Generalized Arterial Calcification of Infancy 6 61
25392903 2014
13
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 6
28102862 2017
14
[GACI syndrome: a case report with a neonatal beginning]. 61 24
24768072 2014
15
Hearing loss is part of the clinical picture of ENPP1 loss of function mutation. 61 24
24216977 2014
16
The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification. 61 24
23855924 2013
17
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. 24 61
22972716 2013
18
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. 61 24
22229486 2012
19
Molecular diagnosis of generalized arterial calcification of infancy (GACI). 24 61
22629037 2012
20
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. 24 61
23269929 2012
21
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. 61 24
21932012 2011
22
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. 61 24
23430823 2011
23
Idiopathic infantile arterial calcification with thrombotic microangiopathy--a unique case. 24 61
21043566 2010
24
Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis. 61 24
19813208 2009
25
Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. 61 24
19452427 2009
26
Generalized arterial calcification of infancy: treatment with bisphosphonates. 24 61
19229237 2009
27
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 6
18800149 2009
28
The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy. 61 24
18842162 2008
29
Anesthetic management of a patient with idiopathic arterial calcification of infancy and fused cervical spine. 24 61
18482240 2008
30
Idiopathic infantile arterial calcification: the spectrum of clinical presentations. 61 24
17990935 2008
31
Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. 61 24
16649023 2006
32
Generalized arterial calcification of infancy: two siblings with prolonged survival. 24 61
16315058 2006
33
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 6
16541094 2006
34
Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography. 61 24
16429273 2006
35
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 6
16086317 2005
36
New findings in idiopathic arterial calcification of infancy detected by MDCT. 61 24
16037532 2005
37
Idiopathic infantile arterial calcification and persistent pulmonary hypertension. 24 61
15838744 2005
38
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 6
12714611 2003
39
Pulmonary arterial and intracranial calcification in the recipient of a twin-twin transfusion. 24 61
15773456 2002
40
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. 6
12384774 2002
41
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. 6
12176944 2002
42
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. 6
11179012 2001
43
Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. 61 24
11178681 2001
44
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 6
11439001 2001
45
Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. 61 24
11083387 2000
46
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 6
10811882 2000
47
Idiopathic arterial calcification of infancy: sonographic and magnetic resonance findings with pathologic correlation. 61 24
9545482 1998
48
Aorto-pulmonary calcification: an unusual manifestation of idiopathic calcification of infancy evident antenatally. 61 24
7724139 1995
49
Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. 61 24
7885787 1994
50
Idiopathic arterial calcification of infancy and pyrophosphate deficiency. 61 24
8391568 1993

Variations for Arterial Calcification of Infancy

ClinVar genetic disease variations for Arterial Calcification of Infancy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ENPP1 NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter)SNV Pathogenic 692042 6:132185688-132185688 6:131864548-131864548
2 ENPP1 NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)SNV Pathogenic 13591 rs121918025 6:132182844-132182844 6:131861704-131861704

Expression for Arterial Calcification of Infancy

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

Pathways for Arterial Calcification of Infancy

Pathways related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 NT5E ENPP1 ALPL
2 11.36 SLC34A3 KL FGF23
3 10.74 SPP1 MGP ENPP1 ALPL
4 10.51 MGP ALPL
5 10.13 MGP GGCX

GO Terms for Arterial Calcification of Infancy

Cellular components related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 SPP1 SLC20A2 NT5E MGP KL GALNT3
2 extracellular region GO:0005576 9.96 SPP1 MGP KL FGF23 ENPP1 DMP1
3 endoplasmic reticulum lumen GO:0005788 9.55 SPP1 FGF23 DMP1 ARSJ AHSG
4 extracellular matrix GO:0031012 9.35 PHOSPHO1 MGP DMP1 ALPL AHSG
5 extracellular membrane-bounded organelle GO:0065010 8.62 PHOSPHO1 ALPL

Biological processes related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.88 SPP1 FGF23 DMP1 AHSG
2 cellular protein metabolic process GO:0044267 9.83 SPP1 FGF23 DMP1 AHSG
3 skeletal system development GO:0001501 9.78 PHEX ANKH ALPL AHSG
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 KL GALNT3 FGF23
5 ossification GO:0001503 9.71 SPP1 MGP DMP1 AHSG
6 phosphate-containing compound metabolic process GO:0006796 9.57 FGF23 ENPP1
7 phosphate ion transmembrane transport GO:0035435 9.56 SLC20A2 ANKH
8 cellular response to vitamin D GO:0071305 9.55 PHEX FGF23
9 response to vitamin D GO:0033280 9.54 SPP1 PHEX ALPL
10 cellular response to parathyroid hormone stimulus GO:0071374 9.51 PHEX FGF23
11 negative regulation of bone mineralization GO:0030502 9.5 FGF23 ENPP1 AHSG
12 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.49 KL FGF23
13 response to sodium phosphate GO:1904383 9.46 PHEX FGF23
14 inorganic diphosphate transport GO:0030505 9.43 ENPP1 ANKH
15 phosphate ion transport GO:0006817 9.43 SLC34A3 SLC20A2 ANKH
16 biomineral tissue development GO:0031214 9.35 SPP1 PHEX ENPP1 DMP1 ALPL
17 cellular phosphate ion homeostasis GO:0030643 9.33 SLC34A3 FGF23 ENPP1
18 regulation of bone mineralization GO:0030500 9.1 PHOSPHO1 MGP FGF23 ENPP1 ANKH AHSG

Molecular functions related to Arterial Calcification of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 PHOSPHO1 PHEX NT5E KL ENPP1 ARSJ
2 fibroblast growth factor receptor binding GO:0005104 9.32 KL FGF23
3 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC20A2
4 pyrophosphatase activity GO:0016462 9.16 PHOSPHO1 ALPL
5 inorganic phosphate transmembrane transporter activity GO:0005315 8.62 SLC20A2 ANKH

Sources for Arterial Calcification of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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