AVSD3
MCID: ATR064
MIFTS: 22

Atrioventricular Septal Defect 3 (AVSD3)

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

Aliases & Classifications for Atrioventricular Septal Defect 3

MalaCards integrated aliases for Atrioventricular Septal Defect 3:

Name: Atrioventricular Septal Defect 3 57 72 29 13 6 70
Avsd3 57 72
Septal Defect, Atrioventricular, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant with variable expression and incomplete penetrance


HPO:

31
atrioventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600309
OMIM Phenotypic Series 57 PS606215
MeSH 44 D004694
UMLS 70 C3275750

Summaries for Atrioventricular Septal Defect 3

UniProtKB/Swiss-Prot : 72 Atrioventricular septal defect 3: 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 3, is also known as avsd3. An important gene associated with Atrioventricular Septal Defect 3 is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include heart, and related phenotypes are hypertension and congestive heart failure

More information from OMIM: 600309 PS606215

Related Diseases for Atrioventricular Septal Defect 3

Symptoms & Phenotypes for Atrioventricular Septal Defect 3

Human phenotypes related to Atrioventricular Septal Defect 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 congestive heart failure 31 HP:0001635
3 pulmonary arterial hypertension 31 HP:0002092
4 cyanosis 31 HP:0000961
5 first degree atrioventricular block 31 HP:0011705
6 primum atrial septal defect 31 HP:0010445
7 inlet ventricular septal defect 31 HP:0011622
8 midsystolic murmur 31 HP:0031665

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
cyanosis

Cardiac:
atrioventricular septal defect (avsd)
ostium primum atrial septal defect
ventricular septum inlet defect
tricuspid and mitral valves are replaced by a single inlet valve
congestive failure
more
Lab:
superior axis and first-degree heart block on ekg
chararacteristic 4-chamber echocardiogram

Lung:
pulmonary hypertension

Misc:
characteristic feature of down syndrome

Clinical features from OMIM®:

600309 (Updated 20-May-2021)

Drugs & Therapeutics for Atrioventricular Septal Defect 3

Search Clinical Trials , NIH Clinical Center for Atrioventricular Septal Defect 3

Genetic Tests for Atrioventricular Septal Defect 3

Genetic tests related to Atrioventricular Septal Defect 3:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 3 29 GJA1

Anatomical Context for Atrioventricular Septal Defect 3

MalaCards organs/tissues related to Atrioventricular Septal Defect 3:

40
Heart

Publications for Atrioventricular Septal Defect 3

Articles related to Atrioventricular Septal Defect 3:

# Title Authors PMID Year
1
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). 57 6
11470490 2001
2
[Role of the Ross-procedure in the management of congenital heart defects]. 61
23376689 2013
3
De Vega tricuspid annuloplasty for tricuspid regurgitation in children. 61
11603458 2001
4
Life-threatening effects of discontinuing inhaled nitric oxide in children. 61
9475312 1997
5
Does an additional source of pulmonary blood flow alter outcome after a bidirectional cavopulmonary shunt? 61
7586416 1995
6
Importance of spontaneous closure of the ventricular part in atrioventricular septal defect. 61
1593750 1992

Variations for Atrioventricular Septal Defect 3

ClinVar genetic disease variations for Atrioventricular Septal Defect 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) SNV Pathogenic 16990 rs2227885 GRCh37: 6:121769078-121769078
GRCh38: 6:121447932-121447932
2 GJA1 NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) SNV Pathogenic 16991 rs104893965 GRCh37: 6:121769120-121769120
GRCh38: 6:121447974-121447974
3 GJA1 NM_000165.5(GJA1):c.486G>C (p.Lys162Asn) SNV Likely pathogenic 374189 rs1057518960 GRCh37: 6:121768479-121768479
GRCh38: 6:121447333-121447333
4 GJA1 NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet) Deletion Likely pathogenic 931993 GRCh37: 6:121768389-121768391
GRCh38: 6:121447243-121447245
5 GJA1 NM_000165.5(GJA1):c.433G>A (p.Val145Met) SNV Uncertain significance 1034095 GRCh37: 6:121768426-121768426
GRCh38: 6:121447280-121447280
6 GJA1 NM_000165.5(GJA1):c.962G>T (p.Gly321Val) SNV Uncertain significance 931473 GRCh37: 6:121768955-121768955
GRCh38: 6:121447809-121447809

Expression for Atrioventricular Septal Defect 3

Search GEO for disease gene expression data for Atrioventricular Septal Defect 3.

Pathways for Atrioventricular Septal Defect 3

GO Terms for Atrioventricular Septal Defect 3

Sources for Atrioventricular Septal Defect 3

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
Content
Loading form....