AVSD2
MCID: ATR047
MIFTS: 26

Atrioventricular Septal Defect 2 (AVSD2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Atrioventricular Septal Defect 2

MalaCards integrated aliases for Atrioventricular Septal Defect 2:

Name: Atrioventricular Septal Defect 2 57 72 29 6
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 57 29 13 6
Avsd2 57 72
Atrioventricular Septal Defect, Susceptibility to, 2 57
Septal Defect, Atrioventricular, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
genetic heterogeneity (see )

Inheritance:
autosomal dominant


HPO:

31
atrioventricular septal defect 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 606217
OMIM Phenotypic Series 57 PS606215
MeSH 44 D004694

Summaries for Atrioventricular Septal Defect 2

UniProtKB/Swiss-Prot : 72 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, also known as atrioventricular septal defect, partial, with heterotaxy syndrome, is related to chromosome 3pter-p25 deletion syndrome and heart septal defect. 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 atrioventricular canal defect

More information from OMIM: 606217 PS606215

Related Diseases for Atrioventricular Septal Defect 2

Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5
Intermediate Atrioventricular Septal Defect

Diseases related to Atrioventricular Septal Defect 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 3pter-p25 deletion syndrome 9.9
2 heart septal defect 9.9

Symptoms & Phenotypes for Atrioventricular Septal Defect 2

Human phenotypes related to Atrioventricular Septal Defect 2:

31
# Description HPO Frequency HPO Source Accession
1 dextrocardia 31 HP:0001651
2 atrioventricular canal defect 31 HP:0006695
3 pulmonary artery atresia 31 HP:0004935
4 right aortic arch with mirror image branching 31 HP:0002627

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
dextrocardia
pulmonary atresia
atrioventricular septal defect, partial

Cardiovascular Vascular:
right aortic arch
aorta arises from right ventricle

Clinical features from OMIM®:

606217 (Updated 20-May-2021)

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
2 Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 29

Anatomical Context for Atrioventricular Septal Defect 2

MalaCards organs/tissues related to Atrioventricular Septal Defect 2:

40
Heart

Publications for Atrioventricular Septal Defect 2

Articles related to Atrioventricular Septal Defect 2:

(show all 17)
# Title Authors PMID Year
1
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 6 57
23040494 2012
2
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). 6 57
15857420 2005
3
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. 6 57
12632326 2003
4
Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling. 6
24697899 2014
5
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. 6
17036335 2006
6
Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants. 57
14699608 2004
7
Detailed mapping of a congenital heart disease gene in chromosome 3p25. 57
10922384 2000
8
Genetic aspects of atrioventricular septal defects. 6
11376440 2000
9
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. 57
8933338 1996
10
Molecular genetic analysis of the 3p- syndrome. 57
7951234 1994
11
Outcomes of Supra-annular Mechanical Atrioventricular Valve Replacement with Polytetrafluoroethylene Graft in Infants and Children. 61
31894395 2020
12
Symptomatic partial and transitional atrioventricular septal defect repaired in infancy. 61
29288192 2018
13
Outcome analysis of major cardiac operations in low weight neonates. 61
15223425 2004
14
Remote control of pulmonary blood flow: initial clinical experience. 61
14688686 2003
15
Prenatal diagnosis of cardiosplenic syndromes: a 10-year experience. 61
14618656 2003
16
Reverse subclavian flap repair of hypoplastic transverse aorta in infancy. 61
11383795 2001
17
Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. 61
2757447 1989

Variations for Atrioventricular Septal Defect 2

ClinVar genetic disease variations for Atrioventricular Septal Defect 2:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRELD1 NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) SNV Pathogenic 3429 rs28941780 GRCh37: 3:9979308-9979308
GRCh38: 3:9937624-9937624
2 CRELD1 NM_001077415.3(CRELD1):c.820_821TG[1] (p.Ala275fs) Microsatellite Likely pathogenic 633463 rs1575650682 GRCh37: 3:9984763-9984764
GRCh38: 3:9943079-9943080
3 CRELD1 NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile) SNV risk factor 3428 rs28942092 GRCh37: 3:9985083-9985083
GRCh38: 3:9943399-9943399
4 CRELD1 NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala) SNV risk factor 3430 rs121912626 GRCh37: 3:9982557-9982557
GRCh38: 3:9940873-9940873
5 CRELD1 NM_001077415.3(CRELD1):c.1240G>A (p.Glu414Lys) SNV risk factor 3431 rs121912627 GRCh37: 3:9986240-9986240
GRCh38: 3:9944556-9944556
6 CRELD1 NM_001077415.3(CRELD1):c.1049-364G>C SNV Uncertain significance 407065 rs748476213 GRCh37: 3:9985685-9985685
GRCh38: 3:9944001-9944001
7 CRELD1 NM_001077415.3(CRELD1):c.1049-389A>G SNV Uncertain significance 407064 rs920334740 GRCh37: 3:9985660-9985660
GRCh38: 3:9943976-9943976
8 CRELD1 NM_001077415.3(CRELD1):c.266G>A (p.Arg89His) SNV Uncertain significance 465834 rs760693953 GRCh37: 3:9979254-9979254
GRCh38: 3:9937570-9937570
9 CRELD1 NM_001077415.3(CRELD1):c.523C>T (p.Arg175Ter) SNV Uncertain significance 465835 rs774018674 GRCh37: 3:9982596-9982596
GRCh38: 3:9940912-9940912
10 CRELD1 NM_001077415.3(CRELD1):c.846G>T (p.Met282Ile) SNV Uncertain significance 643428 rs1230049119 GRCh37: 3:9984789-9984789
GRCh38: 3:9943105-9943105
11 CRELD1 NM_001077415.3(CRELD1):c.635C>T (p.Ser212Leu) SNV Uncertain significance 647903 rs138336691 GRCh37: 3:9982708-9982708
GRCh38: 3:9941024-9941024
12 CRELD1 NM_001077415.3(CRELD1):c.524G>A (p.Arg175Gln) SNV Uncertain significance 534231 rs759093681 GRCh37: 3:9982597-9982597
GRCh38: 3:9940913-9940913
13 CRELD1 NM_001077415.3(CRELD1):c.935_936del (p.Glu312fs) Microsatellite Uncertain significance 954306 GRCh37: 3:9985084-9985085
GRCh38: 3:9943400-9943401
14 CRELD1 NM_001077415.3(CRELD1):c.1049-323G>A SNV Uncertain significance 1002300 GRCh37: 3:9985726-9985726
GRCh38: 3:9944042-9944042
15 overlap with 7 genes NC_000003.11:g.(?_9976103)_(10191669_?)del Deletion Uncertain significance 1007012 GRCh37: 3:9976103-10191669
GRCh38:
16 CRELD1 NM_001077415.3(CRELD1):c.1048+417_1048+418del Deletion Uncertain significance 861074 GRCh37: 3:9985616-9985617
GRCh38: 3:9943932-9943933
17 CRELD1 NM_001077415.3(CRELD1):c.806A>G (p.Tyr269Cys) SNV Uncertain significance 951797 GRCh37: 3:9984569-9984569
GRCh38: 3:9942885-9942885
18 CRELD1 NM_001077415.3(CRELD1):c.460C>T (p.Pro154Ser) SNV Uncertain significance 956320 GRCh37: 3:9979790-9979790
GRCh38: 3:9938106-9938106
19 CRELD1 NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) SNV Uncertain significance 238218 rs201866563 GRCh37: 3:9982648-9982648
GRCh38: 3:9940964-9940964
20 CRELD1 NM_001077415.3(CRELD1):c.796dup (p.Glu266fs) Duplication Uncertain significance 841606 GRCh37: 3:9984558-9984559
GRCh38: 3:9942874-9942875
21 CRELD1 NM_001077415.3(CRELD1):c.95C>T (p.Ser32Phe) SNV Uncertain significance 849743 GRCh37: 3:9976217-9976217
GRCh38: 3:9934533-9934533
22 CRELD1 NM_001077415.3(CRELD1):c.959del (p.Gln320fs) Deletion Uncertain significance 546928 rs759473511 GRCh37: 3:9985110-9985110
GRCh38: 3:9943426-9943426
23 CRELD1 NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn) SNV Uncertain significance 984431 GRCh37: 3:9982883-9982883
GRCh38: 3:9941199-9941199
24 overlap with 15 genes NC_000003.12:g.(?_9701780)_(9944589_?)dup Duplication Uncertain significance 830761 GRCh37: 3:9743464-9986273
GRCh38:
25 CRELD1 NM_001077415.3(CRELD1):c.658C>T (p.Arg220Ter) SNV Uncertain significance 930822 GRCh37: 3:9982815-9982815
GRCh38: 3:9941131-9941131
26 CRELD1 NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys) SNV Likely benign 3427 rs28942091 GRCh37: 3:9985136-9985136
GRCh38: 3:9943452-9943452
27 CRELD1 NM_001077415.3(CRELD1):c.666A>G (p.Ser222=) SNV Likely benign 730776 rs1234487889 GRCh37: 3:9982823-9982823
GRCh38: 3:9941139-9941139
28 CRELD1 NM_001077415.3(CRELD1):c.369-3C>T SNV Likely benign 414253 rs200797264 GRCh37: 3:9979696-9979696
GRCh38: 3:9938012-9938012
29 CRELD1 NM_001077415.3(CRELD1):c.1049-299C>G SNV Likely benign 465833 rs41276501 GRCh37: 3:9985750-9985750
GRCh38: 3:9944066-9944066
30 CRELD1 NM_001077415.3(CRELD1):c.1048+388T>G SNV Likely benign 465832 rs1438320553 GRCh37: 3:9985587-9985587
GRCh38: 3:9943903-9943903
31 CRELD1 NM_001077415.3(CRELD1):c.383C>G (p.Pro128Arg) SNV Benign 238217 rs2302787 GRCh37: 3:9979713-9979713
GRCh38: 3:9938029-9938029
32 CRELD1 NM_001077415.3(CRELD1):c.1049-352C>T SNV Benign 534232 rs139717648 GRCh37: 3:9985697-9985697
GRCh38: 3:9944013-9944013
33 CRELD1 NM_001077415.3(CRELD1):c.616G>A (p.Ala206Thr) SNV Benign 414254 rs200024536 GRCh37: 3:9982689-9982689
GRCh38: 3:9941005-9941005
34 CRELD1 NM_001077415.3(CRELD1):c.257+10T>G SNV Benign 700432 rs146680338 GRCh37: 3:9976611-9976611
GRCh38: 3:9934927-9934927
35 CRELD1 NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) SNV Benign 3429 rs28941780 GRCh37: 3:9979308-9979308
GRCh38: 3:9937624-9937624
36 CRELD1 NM_001077415.3(CRELD1):c.945G>A (p.Pro315=) SNV Benign 137029 rs76764016 GRCh37: 3:9985096-9985096
GRCh38: 3:9943412-9943412
37 CRELD1 NM_001077415.3(CRELD1):c.37= (p.Met13=) SNV Benign 137033 rs279552 GRCh37: 3:9976159-9976159
GRCh38: 3:9934475-9934475
38 CRELD1 NM_001077415.3(CRELD1):c.1049-376T>C SNV Benign 137031 rs73118372 GRCh37: 3:9985673-9985673
GRCh38: 3:9943989-9943989
39 CRELD1 NM_001077415.3(CRELD1):c.912C>T (p.Leu304=) SNV Benign 137034 rs79223485 GRCh37: 3:9984855-9984855
GRCh38: 3:9943171-9943171

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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