ASD6
MCID: ATR034
MIFTS: 29

Atrial Septal Defect 6 (ASD6)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 6

MalaCards integrated aliases for Atrial Septal Defect 6:

Name: Atrial Septal Defect 6 57 12 72 29 13 6 70
Asd6 57 12 72
Atrial Heart Septal Defect 6 12 15
Septal Defect, Atrial, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110111
OMIM® 57 613087
OMIM Phenotypic Series 57 PS108800
MeSH 44 D006344
ICD10 32 Q21.1
MedGen 41 C2751315
UMLS 70 C2751315

Summaries for Atrial Septal Defect 6

UniProtKB/Swiss-Prot : 72 Atrial septal defect 6: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

MalaCards based summary : Atrial Septal Defect 6, also known as asd6, is related to heart septal defect and atrial heart septal defect. An important gene associated with Atrial Septal Defect 6 is TLL1 (Tolloid Like 1). Affiliated tissues include heart, and related phenotypes are atrial fibrillation and bradycardia

Disease Ontology : 12 An atrial heart septal defect type 6 that has material basis in heterozygous mutation in the TLL1 gene on chromosome 4q32.

More information from OMIM: 613087 PS108800

Related Diseases for Atrial Septal Defect 6

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 1 Atrial Septal Defect 4
Atrial Septal Defect 5 Atrial Septal Defect 6
Atrial Septal Defect 3 Atrial Septal Defect 8
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 heart septal defect 10.1
2 atrial heart septal defect 10.1
3 coffin-siris syndrome 6 10.0 CNTN6 CNTN5
4 chromosome 3pter-p25 deletion syndrome 9.9 CNTN6 CNTN5
5 interatrial communication 9.9 TLL1 TBX20
6 atrial septal defect 4 9.7 TNRC18 TLL1 TBX20 PROX2
7 atrial septal defect 5 9.5 TNRC18 TLL1 TBX20 PROX2 KLHDC10

Graphical network of the top 20 diseases related to Atrial Septal Defect 6:



Diseases related to Atrial Septal Defect 6

Symptoms & Phenotypes for Atrial Septal Defect 6

Human phenotypes related to Atrial Septal Defect 6:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 bradycardia 31 occasional (7.5%) HP:0001662
3 atrial septal defect 31 HP:0001631

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrial fibrillation (in some patients)
atrial septal defect, type i or ii
aneurysm of interatrial septum (in some patients)
bradycardia (in some patients)

Clinical features from OMIM®:

613087 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Atrial Septal Defect 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.28 LYPD3 STK16 TLL1 WDR33
2 Decreased viability after Maraba virus infection GR00252-A-2 9.28 LYPD3 TLL1
3 Decreased viability after Maraba virus infection GR00252-A-3 9.28 LYPD3 STK16 WDR33

Drugs & Therapeutics for Atrial Septal Defect 6

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 6

Genetic Tests for Atrial Septal Defect 6

Genetic tests related to Atrial Septal Defect 6:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 6 29 TLL1

Anatomical Context for Atrial Septal Defect 6

MalaCards organs/tissues related to Atrial Septal Defect 6:

40
Heart

Publications for Atrial Septal Defect 6

Articles related to Atrial Septal Defect 6:

# Title Authors PMID Year
1
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 6 57
18830233 2009
2
Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6. 61
30538173 2019
3
Doppler echocardiographic diagnosis of a rare pentalogy of fallot having penta-cardiac anomalies: a case report. 61
22461877 2009
4
Stereoscopic vision display technology in real-time three-dimensional echocardiography-guided intracardiac beating-heart surgery. 61
18544382 2008
5
Port-access cardiac surgery. Experience with 34 cases at Keio University Hospital. 61
11481838 2001
6
Glycogen aggregates in cardiac muscle cell: a cytopathological study on endomyocardial biopsies. 61
7165494 1982
7
Intracardiac flow dynamics with bi-directional ultrasonic pulsed Doppler technique. 61
141534 1977

Variations for Atrial Septal Defect 6

ClinVar genetic disease variations for Atrial Septal Defect 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TLL1 NM_012464.5(TLL1):c.1379-2A>G SNV Pathogenic 690359 rs1579663872 GRCh37: 4:166964424-166964424
GRCh38: 4:166043272-166043272
2 TLL1 NM_012464.5(TLL1):c.1885A>G (p.Ile629Val) SNV Pathogenic 4076 rs137852953 GRCh37: 4:166981218-166981218
GRCh38: 4:166060066-166060066
3 TLL1 NM_012464.5(TLL1):c.713T>C (p.Val238Ala) SNV Pathogenic 4075 rs137852952 GRCh37: 4:166924623-166924623
GRCh38: 4:166003471-166003471
4 TLL1 NM_012464.5(TLL1):c.544A>C (p.Met182Leu) SNV Pathogenic 4074 rs137852951 GRCh37: 4:166916242-166916242
GRCh38: 4:165995090-165995090

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 6:

72
# Symbol AA change Variation ID SNP ID
1 TLL1 p.Met182Leu VAR_062519 rs137852951
2 TLL1 p.Val238Ala VAR_062520 rs137852952
3 TLL1 p.Ile629Val VAR_062521 rs137852953

Expression for Atrial Septal Defect 6

Search GEO for disease gene expression data for Atrial Septal Defect 6.

Pathways for Atrial Septal Defect 6

GO Terms for Atrial Septal Defect 6

Cellular components related to Atrial Septal Defect 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 9.13 LYPD3 CNTN6 CNTN5
2 anchored component of presynaptic membrane GO:0099026 8.62 CNTN6 CNTN5

Sources for Atrial Septal Defect 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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