MCID: ATR047
MIFTS: 18

Atrioventricular Septal Defect 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrioventricular Septal Defect 2

MalaCards integrated aliases for Atrioventricular Septal Defect 2:

Name: Atrioventricular Septal Defect 2 57 75 29 6
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 57 13 6
Avsd2 57 75
Atrioventricular Septal Defect, Susceptibility to, 2 57
Septal Defect, Atrioventricular, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
genetic heterogeneity (see )


HPO:

32
atrioventricular septal defect 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 606217
MeSH 44 D004694

Summaries for Atrioventricular Septal Defect 2

UniProtKB/Swiss-Prot : 75 Atrioventricular septal defect 2: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

MalaCards based summary : Atrioventricular Septal Defect 2, is also known as atrioventricular septal defect, partial, with heterotaxy syndrome. An important gene associated with Atrioventricular Septal Defect 2 is CRELD1 (Cysteine Rich With EGF Like Domains 1). Affiliated tissues include heart, and related phenotypes are dextrocardia and right aortic arch with mirror image branching

Description from OMIM: 606217

Related Diseases for Atrioventricular Septal Defect 2

Symptoms & Phenotypes for Atrioventricular Septal Defect 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrioventricular septal defect, partial
dextrocardia
pulmonary atresia

Cardiovascular Vascular:
right aortic arch
aorta arises from right ventricle


Clinical features from OMIM:

606217

Human phenotypes related to Atrioventricular Septal Defect 2:

32
# Description HPO Frequency HPO Source Accession
1 dextrocardia 32 HP:0001651
2 right aortic arch with mirror image branching 32 HP:0002627
3 pulmonary artery atresia 32 HP:0004935
4 atrioventricular canal defect 32 HP:0006695

Drugs & Therapeutics for Atrioventricular Septal Defect 2

Search Clinical Trials , NIH Clinical Center for Atrioventricular Septal Defect 2

Genetic Tests for Atrioventricular Septal Defect 2

Genetic tests related to Atrioventricular Septal Defect 2:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 2 29 CRELD1

Anatomical Context for Atrioventricular Septal Defect 2

MalaCards organs/tissues related to Atrioventricular Septal Defect 2:

41
Heart

Publications for Atrioventricular Septal Defect 2

Variations for Atrioventricular Septal Defect 2

UniProtKB/Swiss-Prot genetic disease variations for Atrioventricular Septal Defect 2:

75
# Symbol AA change Variation ID SNP ID
1 CRELD1 p.Arg107His VAR_023764 rs28941780
2 CRELD1 p.Pro162Ala VAR_023765 rs121912626
3 CRELD1 p.Thr311Ile VAR_023766 rs28942092
4 CRELD1 p.Arg329Cys VAR_023767 rs28942091

ClinVar genetic disease variations for Atrioventricular Septal Defect 2:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRELD1 NM_001031717.3(CRELD1): c.484C> G (p.Pro162Ala) single nucleotide variant risk factor rs121912626 GRCh37 Chromosome 3, 9982557: 9982557
2 CRELD1 NM_001031717.3(CRELD1): c.484C> G (p.Pro162Ala) single nucleotide variant risk factor rs121912626 GRCh38 Chromosome 3, 9940873: 9940873
3 CRELD1 NM_001077415.2(CRELD1): c.1240G> A (p.Glu414Lys) single nucleotide variant risk factor rs121912627 GRCh37 Chromosome 3, 9986240: 9986240
4 CRELD1 NM_001077415.2(CRELD1): c.1240G> A (p.Glu414Lys) single nucleotide variant risk factor rs121912627 GRCh38 Chromosome 3, 9944556: 9944556
5 CRELD1 NM_001031717.3(CRELD1): c.383C> G (p.Pro128Arg) single nucleotide variant Benign rs2302787 GRCh37 Chromosome 3, 9979713: 9979713
6 CRELD1 NM_001031717.3(CRELD1): c.383C> G (p.Pro128Arg) single nucleotide variant Benign rs2302787 GRCh38 Chromosome 3, 9938029: 9938029
7 CRELD1 NM_001031717.3(CRELD1): c.575G> A (p.Cys192Tyr) single nucleotide variant Uncertain significance rs201866563 GRCh37 Chromosome 3, 9982648: 9982648
8 CRELD1 NM_001031717.3(CRELD1): c.575G> A (p.Cys192Tyr) single nucleotide variant Uncertain significance rs201866563 GRCh38 Chromosome 3, 9940964: 9940964
9 CRELD1 NM_001031717.3(CRELD1): c.369-3C> T single nucleotide variant Likely benign rs200797264 GRCh37 Chromosome 3, 9979696: 9979696
10 CRELD1 NM_001031717.3(CRELD1): c.369-3C> T single nucleotide variant Likely benign rs200797264 GRCh38 Chromosome 3, 9938012: 9938012
11 CRELD1 NM_001031717.3(CRELD1): c.616G> A (p.Ala206Thr) single nucleotide variant Benign rs200024536 GRCh37 Chromosome 3, 9982689: 9982689
12 CRELD1 NM_001031717.3(CRELD1): c.616G> A (p.Ala206Thr) single nucleotide variant Benign rs200024536 GRCh38 Chromosome 3, 9941005: 9941005
13 CRELD1 NM_001031717.3(CRELD1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs920334740 GRCh37 Chromosome 3, 9985660: 9985660
14 CRELD1 NM_001031717.3(CRELD1): c.1123A> G (p.Thr375Ala) single nucleotide variant Uncertain significance rs920334740 GRCh38 Chromosome 3, 9943976: 9943976
15 CRELD1 NM_001031717.3(CRELD1): c.1148G> C (p.Arg383Thr) single nucleotide variant Uncertain significance rs748476213 GRCh37 Chromosome 3, 9985685: 9985685
16 CRELD1 NM_001031717.3(CRELD1): c.1148G> C (p.Arg383Thr) single nucleotide variant Uncertain significance rs748476213 GRCh38 Chromosome 3, 9944001: 9944001
17 CRELD1 NM_001031717.3(CRELD1): c.1213C> G (p.Gln405Glu) single nucleotide variant Likely benign rs41276501 GRCh37 Chromosome 3, 9985750: 9985750
18 CRELD1 NM_001031717.3(CRELD1): c.1213C> G (p.Gln405Glu) single nucleotide variant Likely benign rs41276501 GRCh38 Chromosome 3, 9944066: 9944066
19 CRELD1 NM_001031717.3(CRELD1): c.266G> A (p.Arg89His) single nucleotide variant Uncertain significance rs760693953 GRCh38 Chromosome 3, 9937570: 9937570
20 CRELD1 NM_001031717.3(CRELD1): c.266G> A (p.Arg89His) single nucleotide variant Uncertain significance rs760693953 GRCh37 Chromosome 3, 9979254: 9979254
21 CRELD1 NM_001031717.3(CRELD1): c.523C> T (p.Arg175Ter) single nucleotide variant Uncertain significance rs774018674 GRCh38 Chromosome 3, 9940912: 9940912
22 CRELD1 NM_001031717.3(CRELD1): c.523C> T (p.Arg175Ter) single nucleotide variant Uncertain significance rs774018674 GRCh37 Chromosome 3, 9982596: 9982596
23 CRELD1 NM_001031717.3(CRELD1): c.1050T> G (p.Gly350=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 9943903: 9943903
24 CRELD1 NM_001031717.3(CRELD1): c.1050T> G (p.Gly350=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 9985587: 9985587
25 CRELD1 NM_001031717.3(CRELD1): c.524G> A (p.Arg175Gln) single nucleotide variant Uncertain significance rs759093681 GRCh37 Chromosome 3, 9982597: 9982597
26 CRELD1 NM_001031717.3(CRELD1): c.524G> A (p.Arg175Gln) single nucleotide variant Uncertain significance rs759093681 GRCh38 Chromosome 3, 9940913: 9940913
27 CRELD1 NM_001031717.3(CRELD1): c.1160C> T (p.Thr387Ile) single nucleotide variant Benign rs139717648 GRCh37 Chromosome 3, 9985697: 9985697
28 CRELD1 NM_001031717.3(CRELD1): c.1160C> T (p.Thr387Ile) single nucleotide variant Benign rs139717648 GRCh38 Chromosome 3, 9944013: 9944013

Expression for Atrioventricular Septal Defect 2

Search GEO for disease gene expression data for Atrioventricular Septal Defect 2.

Pathways for Atrioventricular Septal Defect 2

GO Terms for Atrioventricular Septal Defect 2

Sources for Atrioventricular Septal Defect 2

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74 UMLS via Orphanet
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