GACI2
MCID: ART102
MIFTS: 23

Arterial Calcification, Generalized, of Infancy, 2 (GACI2)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Arterial Calcification, Generalized, of Infancy, 2

MalaCards integrated aliases for Arterial Calcification, Generalized, of Infancy, 2:

Name: Arterial Calcification, Generalized, of Infancy, 2 58 13 74
Generalized Arterial Calcification of Infancy 2 30 6
Gaci2 58 76
Calcification, Arterial, Generalized, of Infancy, Type 2 41
Arterial Calcification of Infancy, Generalized, 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)


HPO:

33
arterial calcification, generalized, of infancy, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arterial Calcification, Generalized, of Infancy, 2

OMIM : 58 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). For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (208000). Pseudoxanthoma elasticum (PXE; 264800) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012). (614473)

MalaCards based summary : Arterial Calcification, Generalized, of Infancy, 2, also known as generalized arterial calcification of infancy 2, is related to pseudoxanthoma elasticum. An important gene associated with Arterial Calcification, Generalized, of Infancy, 2 is ABCC6 (ATP Binding Cassette Subfamily C Member 6). Affiliated tissues include heart, and related phenotypes are hypertension and myocardial infarction

UniProtKB/Swiss-Prot : 76 Arterial calcification of infancy, generalized, 2: 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, 2

Diseases in the Arterial Calcification, Generalized, of Infancy, 1 family:

Arterial Calcification, Generalized, of Infancy, 2

Diseases related to Arterial Calcification, Generalized, of Infancy, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 11.2

Symptoms & Phenotypes for Arterial Calcification, Generalized, of Infancy, 2

Human phenotypes related to Arterial Calcification, Generalized, of Infancy, 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 occasional (7.5%) HP:0000822
2 myocardial infarction 33 occasional (7.5%) HP:0001658
3 nephrocalcinosis 33 occasional (7.5%) HP:0000121
4 hypophosphatemic rickets 33 occasional (7.5%) HP:0004912
5 congestive heart failure 33 HP:0001635
6 coronary artery calcification 33 HP:0001717

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
coronary artery calcification
heart failure
cardiac dysfunction
myocardial infarction (in some patients)

Skeletal Limbs:
hypophosphatemic rickets (in some patients)

Genitourinary Kidneys:
nephrocalcinosis (in some patients)
calcification of renal arteries
tubular calcification (in some patients)

Cardiovascular Vascular:
hypertension (in some patients)
generalized calcification of arteries, including aorta and intraparenchymal arteries

Metabolic Features:
hypophosphatemic rickets (in some patients)

Clinical features from OMIM:

614473

Drugs & Therapeutics for Arterial Calcification, Generalized, of Infancy, 2

Search Clinical Trials , NIH Clinical Center for Arterial Calcification, Generalized, of Infancy, 2

Genetic Tests for Arterial Calcification, Generalized, of Infancy, 2

Genetic tests related to Arterial Calcification, Generalized, of Infancy, 2:

# Genetic test Affiliating Genes
1 Generalized Arterial Calcification of Infancy 2 30 ABCC6

Anatomical Context for Arterial Calcification, Generalized, of Infancy, 2

MalaCards organs/tissues related to Arterial Calcification, Generalized, of Infancy, 2:

42
Heart

Publications for Arterial Calcification, Generalized, of Infancy, 2

Articles related to Arterial Calcification, Generalized, of Infancy, 2:

(show all 13)
# Title Authors Year
1
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. ( 28102862 )
2017
2
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. ( 22209248 )
2012
3
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. ( 20034067 )
2010
4
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. ( 18800149 )
2009
5
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. ( 16541094 )
2006
6
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. ( 16573612 )
2006
7
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. ( 16086317 )
2005
8
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. ( 12714611 )
2003
9
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. ( 12384774 )
2002
10
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. ( 12176944 )
2002
11
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. ( 11179012 )
2001
12
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. ( 11439001 )
2001
13
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. ( 10811882 )
2000

Variations for Arterial Calcification, Generalized, of Infancy, 2

UniProtKB/Swiss-Prot genetic disease variations for Arterial Calcification, Generalized, of Infancy, 2:

76
# Symbol AA change Variation ID SNP ID
1 ABCC6 p.Arg1314Trp VAR_011495 rs63750759
2 ABCC6 p.Leu355Arg VAR_067846 rs72653758
3 ABCC6 p.Arg391Gly VAR_067850 rs72653762
4 ABCC6 p.Ser590Phe VAR_067860 rs537233133
5 ABCC6 p.Arg1114Cys VAR_067890 rs63749794
6 ABCC6 p.Arg1221His VAR_067897 rs63751001

ClinVar genetic disease variations for Arterial Calcification, Generalized, of Infancy, 2:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
2 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
3 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh37 Chromosome 16, 16267140: 16267140
4 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh38 Chromosome 16, 16173283: 16173283
5 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh37 Chromosome 16, 16248831: 16248831
6 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh38 Chromosome 16, 16154974: 16154974
7 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh37 Chromosome 16, 16256944: 16256944
8 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh38 Chromosome 16, 16163087: 16163087
9 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh37 Chromosome 16, 16251667: 16251667
10 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh38 Chromosome 16, 16157810: 16157810
11 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh37 Chromosome 16, 16248867: 16248867
12 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh38 Chromosome 16, 16155010: 16155010
13 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh37 Chromosome 16, 16272776: 16272776
14 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh38 Chromosome 16, 16178919: 16178919
15 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh37 Chromosome 16, 16244622: 16244622
16 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh38 Chromosome 16, 16150765: 16150765
17 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
18 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247
19 ABCC6 NM_001171.5(ABCC6): c.450dupC (p.Ala151Argfs) duplication Pathogenic rs387906860 GRCh37 Chromosome 16, 16313435: 16313435
20 ABCC6 NM_001171.5(ABCC6): c.450dupC (p.Ala151Argfs) duplication Pathogenic rs387906860 GRCh38 Chromosome 16, 16219578: 16219578
21 ABCC6 NM_001171.5(ABCC6): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs72653772 GRCh37 Chromosome 16, 16284103: 16284103
22 ABCC6 NM_001171.5(ABCC6): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs72653772 GRCh38 Chromosome 16, 16190246: 16190246
23 ABCC6 NM_001171.5(ABCC6): c.1424A> T (p.His475Leu) single nucleotide variant Uncertain significance rs151187637 GRCh37 Chromosome 16, 16286694: 16286694
24 ABCC6 NM_001171.5(ABCC6): c.1424A> T (p.His475Leu) single nucleotide variant Uncertain significance rs151187637 GRCh38 Chromosome 16, 16192837: 16192837

Expression for Arterial Calcification, Generalized, of Infancy, 2

Search GEO for disease gene expression data for Arterial Calcification, Generalized, of Infancy, 2.

Pathways for Arterial Calcification, Generalized, of Infancy, 2

GO Terms for Arterial Calcification, Generalized, of Infancy, 2

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