MCID: ATR064
MIFTS: 17

Atrioventricular Septal Defect 3

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrioventricular Septal Defect 3

MalaCards integrated aliases for Atrioventricular Septal Defect 3:

Name: Atrioventricular Septal Defect 3 57 75 13 73
Avsd3 57 75
Septal Defect, Atrioventricular, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant with variable expression and incomplete penetrance


HPO:

32
atrioventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrioventricular Septal Defect 3

UniProtKB/Swiss-Prot : 75 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 cyanosis and congestive heart failure

Description from OMIM: 600309

Related Diseases for Atrioventricular Septal Defect 3

Symptoms & Phenotypes for Atrioventricular Septal Defect 3

Symptoms via clinical synopsis from OMIM:

57
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
Lung:
pulmonary hypertension

Lab:
superior axis and first-degree heart block on ekg
chararacteristic 4-chamber echocardiogram

Skin:
cyanosis

Misc:
characteristic feature of down syndrome


Clinical features from OMIM:

600309

Human phenotypes related to Atrioventricular Septal Defect 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 congestive heart failure 32 HP:0001635
3 pulmonary arterial hypertension 32 HP:0002092
4 primum atrial septal defect 32 HP:0010445
5 inlet ventricular septal defect 32 HP:0011622
6 first degree atrioventricular block 32 HP:0011705

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:

41
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_000165.4(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120
2 GJA1 NM_000165.4(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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