GACI1
MCID: ART106
MIFTS: 37

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 13
Idiopathic Infantile Arterial Calcification 57 75
Vascular Calcification 44 73
Gaci1 57 75
Gaci 57 75
Iiac 57 75
Calcification, Arterial, Generalized, Infancy, Type 1 40
Idiopathic Infantile Arterial Calcification; Iiac 57
Arterial Calcification of Infancy, Generalized, 1 75
Generalized Arterial Calcification of Infancy 75
Arterial Calcification, Idiopathic Infantile 57
Arteriopathy, Occlusive Infantile 57
Arterial Calcification of Infancy 73
Occlusive Infantile Arteriopathy 75

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:



Summaries for Arterial Calcification, Generalized, of Infancy, 1

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).

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). Affiliated tissues include heart, skin and kidney, and related phenotypes are hypertension and short stature

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 : 75 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 : 76 Generalized Arterial Calcification of Infancy (GACI) also known as Idiopathic Infantile Arterial... 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 76)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 12.0
2 pseudoxanthoma elasticum 11.4
3 arterial calcification, generalized, of infancy, 2 11.1
4 monckeberg arteriosclerosis 11.0
5 calcification of joints and arteries 11.0
6 chronic kidney failure 10.4
7 kidney disease 10.4
8 uremia 10.2
9 hyperphosphatemia 10.2
10 pulmonary hypertension 10.1
11 calciphylaxis 10.1
12 hypophosphatemic rickets, x-linked recessive 10.0
13 rickets 10.0
14 hypercementosis 10.0
15 renal osteodystrophy 10.0
16 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
17 ischemia 9.9
18 chronic intestinal vascular insufficiency 9.9
19 fetal edema 9.9
20 hydrops fetalis 9.9
21 hypercholesterolemia, familial 9.9
22 end stage renal failure 9.9
23 secondary hyperparathyroidism of renal origin 9.9
24 hyperparathyroidism 9.9
25 arteriosclerosis 9.9
26 hypophosphatemia 9.9
27 autosomal recessive hypophosphatemic rickets 9.9
28 peritonitis 9.9
29 osteoporosis 9.9
30 vascular disease 9.9
31 aging 9.8
32 diabetes mellitus 9.8
33 metabolic acidosis 9.8
34 bone disease 9.8
35 hypoparathyroidism 9.8
36 chondrocalcinosis 9.8
37 calcinosis 9.8
38 osteoporotic fracture 9.8
39 spondyloarthropathy 1 9.6
40 arteries, anomalies of 9.6
41 fish-eye disease 9.6
42 systemic lupus erythematosus 9.6
43 hutchinson-gilford progeria syndrome 9.6
44 rheumatoid arthritis 9.6
45 alkaptonuria 9.6
46 diabetes mellitus, insulin-dependent 9.6
47 myocardial infarction 9.6
48 pseudopseudohypoparathyroidism 9.6
49 muscle hypertrophy 9.6
50 peripheral vascular disease 9.6

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

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

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

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

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

Search Clinical Trials , 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
Heart, Skin, Kidney, Bone

Publications for Arterial Calcification, Generalized, of Infancy, 1

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

(show all 42)
# Title Authors Year
1
Idiopathic infantile arterial calcification: a case report of successful extracorporeal membrane oxygenation support. ( 28085170 )
2017
2
Prenatal diagnosis of idiopathic infantile arterial calcification without fetal hydrops. ( 27928837 )
2017
3
[Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification]. ( 27029882 )
2016
4
A case of antenatal diagnosis and postnatal characteristics of ─▒diopathic ─▒nfantile arterial calcification (IIAC and prenatal diagnosis). ( 27019311 )
2016
5
A rare cause of death in infancy: idiopathic infantile arterial calcification. ( 26591630 )
2015
6
Idiopathic infantile arterial calcification: a possible cause of refractory cardiopulmonary failure in infancy. ( 24660083 )
2014
7
The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification. ( 23855924 )
2013
8
Idiopathic infantile arterial calcification in a 12-year-old girl presenting as chronic mesenteric ischemia: imaging findings and angioplasty results. ( 21394437 )
2011
9
Idiopathic infantile arterial calcification: prenatal diagnosis and postnatal presentation. ( 20420290 )
2010
10
Idiopathic infantile arterial calcification with thrombotic microangiopathy--a unique case. ( 21043566 )
2010
11
Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood. ( 21151691 )
2010
12
Radiographic and pathologic evaluation of idiopathic infantile arterial calcification. ( 20093882 )
2010
13
Two cases of idiopathic infantile arterial calcification. ( 20500438 )
2010
14
Successful congenital heart surgery for a toddler with idiopathic infantile arterial calcification. ( 20552183 )
2010
15
Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis. ( 19813208 )
2009
16
Idiopathic infantile arterial calcification: a case report of prenatal and postnatal echocardiographic diagnosis. ( 19490013 )
2009
17
Idiopathic infantile arterial calcification: the spectrum of clinical presentations. ( 17990935 )
2008
18
Idiopathic infantile arterial calcification: case report. ( 18511897 )
2008
19
Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. ( 16649023 )
2006
20
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. ( 16573612 )
2006
21
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. ( 16369898 )
2006
22
Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography. ( 16429273 )
2006
23
Idiopathic infantile arterial calcification presenting as fatal hypertensive cardiomyopathy. ( 17056867 )
2006
24
Idiopathic infantile arterial calcification and persistent pulmonary hypertension. ( 15838744 )
2005
25
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. ( 12881724 )
2003
26
Idiopathic infantile arterial calcification: sonographic findings. ( 14595743 )
2003
27
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. ( 11159191 )
2001
28
Image in cardiovascular medicine. Prenatal diagnosis of idiopathic infantile arterial calcification. ( 11208697 )
2001
29
Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. ( 11083387 )
2000
30
Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. ( 7885787 )
1994
31
Pediatric case of the day. Idiopathic infantile arterial calcification (IIAC). ( 8066280 )
1994
32
Idiopathic infantile arterial calcification. ( 2025549 )
1991
33
In utero appearance of idiopathic infantile arterial calcification: ultrasound study of a 28-week fetus. ( 12797061 )
1991
34
Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. ( 2118367 )
1990
35
Idiopathic infantile arterial calcification. In utero diagnosis. ( 2204719 )
1990
36
Idiopathic infantile arterial calcification: unusual features. ( 2251001 )
1990
37
Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. ( 2707283 )
1989
38
Idiopathic infantile arterial calcification: a case report and review of the literature. ( 6468446 )
1984
39
Idiopathic infantile arterial calcification with survival to adult life. ( 6473121 )
1984
40
Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. ( 416189 )
1978
41
Idiopathic infantile arterial calcification: roentgen diagnosis of a rare cause of coronary artery occlusion. ( 4779072 )
1973
42
Idiopathic infantile arterial calcification--a misnomer? ( 4196111 )
1970

Variations for Arterial Calcification, Generalized, of Infancy, 1

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

75 (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

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

6 (show top 50) (show all 273)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh37 Chromosome 6, 132211550: 132211550
2 ENPP1 NM_006208.2(ENPP1): c.2677G> T (p.Glu893Ter) single nucleotide variant Pathogenic rs121918023 GRCh38 Chromosome 6, 131890410: 131890410
3 ENPP1 NM_006208.2(ENPP1): c.2320C> T (p.Arg774Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28933977 GRCh37 Chromosome 6, 132206079: 132206079
4 ENPP1 NM_006208.2(ENPP1): c.2320C> T (p.Arg774Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28933977 GRCh38 Chromosome 6, 131884939: 131884939
5 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh37 Chromosome 6, 132185692: 132185702
6 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh38 Chromosome 6, 131864552: 131864562
7 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh37 Chromosome 6, 132198145: 132198145
8 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh38 Chromosome 6, 131877005: 131877005
9 ENPP1 NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh37 Chromosome 6, 132172368: 132172368
10 ENPP1 NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh38 Chromosome 6, 131851228: 131851228
11 ENPP1 NM_006208.2(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh37 Chromosome 6, 132212694: 132212694
12 ENPP1 NM_006208.2(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh38 Chromosome 6, 131891554: 131891554
13 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh37 Chromosome 6, 132182844: 132182844
14 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh38 Chromosome 6, 131861704: 131861704
15 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh37 Chromosome 6, 132186026: 132186026
16 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh38 Chromosome 6, 131864886: 131864886
17 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
18 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh38 Chromosome 6, 131860388: 131860388
19 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh37 Chromosome 6, 132179875: 132179875
20 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh38 Chromosome 6, 131858735: 131858735
21 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
22 ENPP1 NM_006208.2(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 GRCh37 Chromosome 6, 132181644: 132181644
23 ENPP1 NM_006208.2(ENPP1): c.913C> A (p.Pro305Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs374270497 GRCh38 Chromosome 6, 131860504: 131860504
24 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh37 Chromosome 6, 132195454: 132195454
25 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh38 Chromosome 6, 131874314: 131874314
26 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh38 Chromosome 6, 131858748: 131858748
27 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh37 Chromosome 6, 132179888: 132179888
28 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh38 Chromosome 6, 131877099: 131877099
29 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh37 Chromosome 6, 132198239: 132198239
30 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh38 Chromosome 6, 131879936: 131879936
31 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh37 Chromosome 6, 132201076: 132201076
32 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh37 Chromosome 6, 132211530: 132211530
33 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh38 Chromosome 6, 131890390: 131890390
34 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh37 Chromosome 6, 132198164: 132198164
35 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh38 Chromosome 6, 131877024: 131877024
36 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh37 Chromosome 6, 132206094: 132206094
37 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh38 Chromosome 6, 131884954: 131884954
38 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh37 Chromosome 6, 132129163: 132129163
39 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh38 Chromosome 6, 131808023: 131808023
40 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh37 Chromosome 6, 132168996: 132168997
41 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh38 Chromosome 6, 131847856: 131847857
42 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh37 Chromosome 6, 132168997: 132168998
43 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh38 Chromosome 6, 131847857: 131847858
44 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh37 Chromosome 6, 132168998: 132168998
45 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh38 Chromosome 6, 131847858: 131847858
46 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169029: 132169034
47 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847889: 131847894
48 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh37 Chromosome 6, 132181533: 132181533
49 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh38 Chromosome 6, 131860393: 131860393
50 ENPP1 NM_006208.2(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh37 Chromosome 6, 132190553: 132190553

Expression for Arterial Calcification, Generalized, of Infancy, 1

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Sources for Arterial Calcification, Generalized, of Infancy, 1

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