MCID: ATR071
MIFTS: 15

Atrioventricular Septal Defect 5

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Atrioventricular Septal Defect 5

MalaCards integrated aliases for Atrioventricular Septal Defect 5:

Name: Atrioventricular Septal Defect 5 53 71 28 13 69
Avsd5 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
atrioventricular septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614474
MedGen 39 C3280939
MeSH 41 D004694
SNOMED-CT via HPO 65 263681008 15459006 94706008
UMLS 69 C3280939

Summaries for Atrioventricular Septal Defect 5

OMIM : 53 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215). (614474)

MalaCards based summary : Atrioventricular Septal Defect 5, is also known as avsd5, and has symptoms including atrioventricular canal defect and muscular ventricular septal defect. An important gene associated with Atrioventricular Septal Defect 5 is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 Atrioventricular septal defect 5: 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.

Related Diseases for Atrioventricular Septal Defect 5

Symptoms & Phenotypes for Atrioventricular Septal Defect 5

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
atrioventricular septal defect, unbalanced
hypoplastic left ventricle
ventricular septal defect, muscular


Clinical features from OMIM:

614474

Human phenotypes related to Atrioventricular Septal Defect 5:

31
# Description HPO Frequency HPO Source Accession
1 atrioventricular canal defect 31 HP:0006695
2 muscular ventricular septal defect 31 HP:0011623

Drugs & Therapeutics for Atrioventricular Septal Defect 5

Search Clinical Trials , NIH Clinical Center for Atrioventricular Septal Defect 5

Genetic Tests for Atrioventricular Septal Defect 5

Genetic tests related to Atrioventricular Septal Defect 5:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 5 28 GATA6

Anatomical Context for Atrioventricular Septal Defect 5

MalaCards organs/tissues related to Atrioventricular Septal Defect 5:

38
Heart

Publications for Atrioventricular Septal Defect 5

Variations for Atrioventricular Septal Defect 5

UniProtKB/Swiss-Prot genetic disease variations for Atrioventricular Septal Defect 5:

71
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Ala178Val VAR_067381 rs387906815

ClinVar genetic disease variations for Atrioventricular Septal Defect 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.533C> T (p.Ala178Val) single nucleotide variant Pathogenic rs387906815 GRCh37 Chromosome 18, 19751638: 19751638

Expression for Atrioventricular Septal Defect 5

Search GEO for disease gene expression data for Atrioventricular Septal Defect 5.

Pathways for Atrioventricular Septal Defect 5

GO Terms for Atrioventricular Septal Defect 5

Sources for Atrioventricular Septal Defect 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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