GACI2
MCID: ART102
MIFTS: 25

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 56 13 71
Generalized Arterial Calcification of Infancy 2 29 6
Gaci2 56 73
Calcification, Arterial, Generalized, of Infancy, Type 2 39
Arterial Calcification of Infancy, Generalized, 2 73

Characteristics:

OMIM:

56
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:

31
arterial calcification, generalized, of infancy, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614473
OMIM Phenotypic Series 56 PS208000
MeSH 43 D061205
UMLS 71 C3276161

Summaries for Arterial Calcification, Generalized, of Infancy, 2

OMIM : 56 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 : 73 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 11.3

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 myocardial infarction 31 occasional (7.5%) HP:0001658
3 nephrocalcinosis 31 occasional (7.5%) HP:0000121
4 hypophosphatemic rickets 31 occasional (7.5%) HP:0004912
5 congestive heart failure 31 HP:0001635
6 coronary artery calcification 31 HP:0001717

Symptoms via clinical synopsis from OMIM:

56
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 29 ABCC6

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

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

40
Heart

Publications for Arterial Calcification, Generalized, of Infancy, 2

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

(show all 16)
# Title Authors PMID Year
1
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 6 56
22209248 2012
2
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 6 56
20034067 2010
3
Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. 6 56
16573612 2006
4
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 6
28102862 2017
5
Generalized Arterial Calcification of Infancy 6
25392903 2014
6
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 6
18800149 2009
7
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 6
16541094 2006
8
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 6
16086317 2005
9
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. 56
15940697 2005
10
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 56
12881724 2003
11
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 6
12714611 2003
12
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. 6
12384774 2002
13
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. 6
12176944 2002
14
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
15
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 6
11439001 2001
16
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 6
10811882 2000

Variations for Arterial Calcification, Generalized, of Infancy, 2

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

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter)SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
2 ABCC6 NM_001171.5(ABCC6):c.2787+1G>TSNV Pathogenic 6560 rs72664209 16:16267140-16267140 16:16173283-16173283
3 ABCC6 NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp)SNV Pathogenic 6564 rs63750759 16:16248831-16248831 16:16154974-16154974
4 ABCC6 NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp)SNV Pathogenic 6571 rs28939701 16:16256944-16256944 16:16163087-16163087
5 ABCC6 NM_001171.5(ABCC6):c.3736-1G>ASNV Pathogenic 6574 rs63750273 16:16251667-16251667 16:16157810-16157810
6 ABCC6 NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg)SNV Pathogenic 6579 rs63749856 16:16248867-16248867 16:16155010-16155010
7 ABCC6 NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln)SNV Pathogenic 30337 rs67561842 16:16272776-16272776 16:16178919-16178919
8 ABCC6 NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys)SNV Pathogenic 30338 rs387906859 16:16244622-16244622 16:16150765-16150765
9 ABCC6 NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter)SNV Pathogenic 30339 rs72650700 16:16284104-16284104 16:16190247-16190247
10 ABCC6 NM_001171.5(ABCC6):c.450dup (p.Ala151fs)duplication Pathogenic 30340 rs387906860 16:16313435-16313435 16:16219578-16219578
11 ABCC6 NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln)SNV Pathogenic 265018 rs72653772 16:16284103-16284103 16:16190246-16190246
12 ABCC6 NM_001171.5(ABCC6):c.1424A>T (p.His475Leu)SNV Uncertain significance 291095 rs151187637 16:16286694-16286694 16:16192837-16192837

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

73
# 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

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

Sources for Arterial Calcification, Generalized, of Infancy, 2

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