MCID: ART106
MIFTS: 31

Arterial Calcification, Generalized, of Infancy, 1

Categories: Genetic diseases, Cardiovascular 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

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)

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 and skin, and related phenotypes are hypertension and growth abnormality

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.

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 all 15)
# Related Disease Score Top Affiliating Genes
1 arterial calcification of infancy 11.9
2 pseudoxanthoma elasticum 11.2
3 arterial calcification, generalized, of infancy, 2 11.0
4 monckeberg arteriosclerosis 10.9
5 chronic kidney failure 10.3
6 kidney disease 10.3
7 uremia 10.1
8 hyperphosphatemia 10.1
9 calciphylaxis 9.9
10 renal osteodystrophy 9.9
11 hypercholesterolemia, familial 9.8
12 osteoporosis 9.8
13 aging 9.8
14 arteriosclerosis 9.8
15 vascular disease 9.7

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)

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)

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

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


Clinical features from OMIM:

208000

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

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839

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
Heart, Skin

Publications for Arterial Calcification, Generalized, of Infancy, 1

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

(show all 12)
# Title Authors Year
1
Idiopathic infantile arterial calcification: a case report of successful extracorporeal membrane oxygenation support. ( 28085170 )
2017
2
[Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification]. ( 27029882 )
2016
3
Idiopathic infantile arterial calcification: prenatal diagnosis and postnatal presentation. ( 20420290 )
2010
4
Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis. ( 19813208 )
2009
5
Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. ( 16649023 )
2006
6
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. ( 16573612 )
2006
7
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. ( 16369898 )
2006
8
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. ( 12881724 )
2003
9
Idiopathic infantile arterial calcification: sonographic findings. ( 14595743 )
2003
10
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. ( 11159191 )
2001
11
Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. ( 7885787 )
1994
12
Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. ( 2118367 )
1990

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
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
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 257)
# 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.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh37 Chromosome 6, 132185692: 132185702
4 ENPP1 NM_006208.2(ENPP1): c.1072_1082delCAGCTTCCTAA (p.Gln358Argfs) deletion Pathogenic GRCh38 Chromosome 6, 131864552: 131864562
5 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh37 Chromosome 6, 132198145: 132198145
6 ENPP1 NM_006208.2(ENPP1): c.1737G> C (p.Leu579Phe) single nucleotide variant Pathogenic rs121918024 GRCh38 Chromosome 6, 131877005: 131877005
7 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh37 Chromosome 6, 132182844: 132182844
8 ENPP1 NM_006208.2(ENPP1): c.1025G> T (p.Gly342Val) single nucleotide variant Pathogenic rs121918025 GRCh38 Chromosome 6, 131861704: 131861704
9 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh37 Chromosome 6, 132186026: 132186026
10 ENPP1 NM_006208.2(ENPP1): c.1112A> T (p.Tyr371Phe) single nucleotide variant Pathogenic rs121918026 GRCh38 Chromosome 6, 131864886: 131864886
11 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh37 Chromosome 6, 132181528: 132181528
12 ENPP1 NM_006208.2(ENPP1): c.797G> T (p.Gly266Val) single nucleotide variant Pathogenic rs121908248 GRCh38 Chromosome 6, 131860388: 131860388
13 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh37 Chromosome 6, 132179875: 132179875
14 ENPP1 NM_006208.2(ENPP1): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs267606784 GRCh38 Chromosome 6, 131858735: 131858735
15 ENPP1 ENPP1, 2-BP DEL, 878AA deletion Pathogenic
16 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh37 Chromosome 6, 132195454: 132195454
17 ENPP1 NM_006208.2(ENPP1): c.1612G> C (p.Asp538His) single nucleotide variant Pathogenic rs387906673 GRCh38 Chromosome 6, 131874314: 131874314
18 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh38 Chromosome 6, 131858748: 131858748
19 ENPP1 NM_006208.2(ENPP1): c.795+1G> A single nucleotide variant Pathogenic rs753851892 GRCh37 Chromosome 6, 132179888: 132179888
20 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh38 Chromosome 6, 131877099: 131877099
21 ENPP1 NM_006208.2(ENPP1): c.1831C> G (p.Leu611Val) single nucleotide variant Likely benign rs79079368 GRCh37 Chromosome 6, 132198239: 132198239
22 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh38 Chromosome 6, 131879936: 131879936
23 ENPP1 NM_006208.2(ENPP1): c.2002G> A (p.Glu668Lys) single nucleotide variant Likely benign rs115371819 GRCh37 Chromosome 6, 132201076: 132201076
24 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh37 Chromosome 6, 132211530: 132211530
25 ENPP1 NM_006208.2(ENPP1): c.2657G> C (p.Arg886Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs8192683 GRCh38 Chromosome 6, 131890390: 131890390
26 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh37 Chromosome 6, 132198164: 132198164
27 ENPP1 NM_006208.2(ENPP1): c.1756G> A (p.Gly586Arg) single nucleotide variant Uncertain significance rs777367269 GRCh38 Chromosome 6, 131877024: 131877024
28 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh37 Chromosome 6, 132206094: 132206094
29 ENPP1 NM_006208.2(ENPP1): c.2335A> C (p.Thr779Pro) single nucleotide variant Benign/Likely benign rs1805138 GRCh38 Chromosome 6, 131884954: 131884954
30 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh37 Chromosome 6, 132129163: 132129163
31 ENPP1 NM_006208.2(ENPP1): c.-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535293574 GRCh38 Chromosome 6, 131808023: 131808023
32 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh37 Chromosome 6, 132168996: 132168997
33 ENPP1 NM_006208.2(ENPP1): c.313+8_313+9insTT insertion Uncertain significance rs879243445 GRCh38 Chromosome 6, 131847856: 131847857
34 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh37 Chromosome 6, 132168997: 132168998
35 ENPP1 NM_006208.2(ENPP1): c.313+9_313+10insGGTG insertion Uncertain significance rs536901634 GRCh38 Chromosome 6, 131847857: 131847858
36 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh37 Chromosome 6, 132168998: 132168998
37 ENPP1 NM_006208.2(ENPP1): c.313+10T> G single nucleotide variant Uncertain significance rs202225018 GRCh38 Chromosome 6, 131847858: 131847858
38 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh37 Chromosome 6, 132169029: 132169034
39 ENPP1 NM_006208.2(ENPP1): c.313+41_313+46delGTGTGT deletion Uncertain significance rs59956343 GRCh38 Chromosome 6, 131847889: 131847894
40 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh37 Chromosome 6, 132181533: 132181533
41 ENPP1 NM_006208.2(ENPP1): c.802T> C (p.Tyr268His) single nucleotide variant Uncertain significance rs17847050 GRCh38 Chromosome 6, 131860393: 131860393
42 ENPP1 NM_006208.2(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh37 Chromosome 6, 132190553: 132190553
43 ENPP1 NM_006208.2(ENPP1): c.1329T> C (p.Asp443=) single nucleotide variant Likely benign rs113723070 GRCh38 Chromosome 6, 131869413: 131869413
44 ENPP1 NM_006208.2(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh37 Chromosome 6, 132201163: 132201163
45 ENPP1 NM_006208.2(ENPP1): c.2089G> A (p.Val697Met) single nucleotide variant Uncertain significance rs762065573 GRCh38 Chromosome 6, 131880023: 131880023
46 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh37 Chromosome 6, 132203474: 132203474
47 ENPP1 NM_006208.2(ENPP1): c.2101-11delT deletion Benign rs397832689 GRCh38 Chromosome 6, 131882334: 131882334
48 ENPP1 NM_006208.2(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh38 Chromosome 6, 131882487: 131882487
49 ENPP1 NM_006208.2(ENPP1): c.2230+13C> T single nucleotide variant Uncertain significance rs537428242 GRCh37 Chromosome 6, 132203627: 132203627
50 ENPP1 NM_006208.2(ENPP1): c.2661A> G (p.Ala887=) single nucleotide variant Likely benign rs1804025 GRCh38 Chromosome 6, 131890394: 131890394

Expression for Arterial Calcification, Generalized, of Infancy, 1

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Sources for Arterial Calcification, Generalized, of Infancy, 1

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