AVSD5
MCID: ATR071
MIFTS: 19

Atrioventricular Septal Defect 5 (AVSD5) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrioventricular Septal Defect 5

Aliases & Descriptions for Atrioventricular Septal Defect 5:

Name: Atrioventricular Septal Defect 5 54 24 66 29 13 69
Avsd5 24 66

Characteristics:

HPO:

32
atrioventricular septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614474
MedGen 40 C3280939
MeSH 42 D004694

Summaries for Atrioventricular Septal Defect 5

OMIM : 54 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a... (614474) more...

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). The drugs Nitric Oxide and carnitine have been mentioned in the context of this disorder. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 66 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 by clinical synopsis from OMIM:

614474

Clinical features from OMIM:

614474

Human phenotypes related to Atrioventricular Septal Defect 5:

32
id Description HPO Frequency HPO Source Accession
1 atrioventricular canal defect 32 HP:0006695
2 muscular ventricular septal defect 32 HP:0011623

Drugs & Therapeutics for Atrioventricular Septal Defect 5

Drugs for Atrioventricular Septal Defect 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 1 10102-43-9 145068
2 carnitine Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
2 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
3 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
4 ADVANCE ASO AMPLATZERâ„¢ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351

Search NIH Clinical Center for Atrioventricular Septal Defect 5

Genetic Tests for Atrioventricular Septal Defect 5

Genetic tests related to Atrioventricular Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 5 29 24 GATA6

Anatomical Context for Atrioventricular Septal Defect 5

MalaCards organs/tissues related to Atrioventricular Septal Defect 5:

39
Heart

Publications for Atrioventricular Septal Defect 5

Variations for Atrioventricular Septal Defect 5

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

66
id Symbol AA change Variation ID SNP ID
1 GATA6 p.Ala178Val VAR_067381 rs387906815

ClinVar genetic disease variations for Atrioventricular Septal Defect 5:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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