AVSD3
MCID: ATR064
MIFTS: 17

Atrioventricular Septal Defect 3 (AVSD3)

Categories: Cardiovascular 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 58 76 13 74
Avsd3 58 76
Septal Defect, Atrioventricular, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant with variable expression and incomplete penetrance


HPO:

33
atrioventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrioventricular Septal Defect 3

UniProtKB/Swiss-Prot : 76 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 pulmonary arterial hypertension

Description from OMIM: 600309

Related Diseases for Atrioventricular Septal Defect 3

Symptoms & Phenotypes for Atrioventricular Septal Defect 3

Human phenotypes related to Atrioventricular Septal Defect 3:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 pulmonary arterial hypertension 33 HP:0002092
3 congestive heart failure 33 HP:0001635
4 first degree atrioventricular block 33 HP:0011705
5 cyanosis 33 HP:0000961
6 primum atrial septal defect 33 HP:0010445
7 inlet ventricular septal defect 33 HP:0011622
8 midsystolic murmur 33 HP:0031665

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Atrioventricular Septal Defect 3

MalaCards organs/tissues related to Atrioventricular Septal Defect 3:

42
Heart

Publications for Atrioventricular Septal Defect 3

Variations for Atrioventricular Septal Defect 3

ClinVar genetic disease variations for Atrioventricular Septal Defect 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.5(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh37 Chromosome 6, 121769078: 121769078
2 GJA1 NM_000165.5(GJA1): c.1085G> A (p.Arg362Gln) single nucleotide variant Uncertain significance rs2227885 GRCh38 Chromosome 6, 121447932: 121447932
3 GJA1 NM_000165.5(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120
4 GJA1 NM_000165.5(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh38 Chromosome 6, 121447974: 121447974

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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