ASD6
MCID: ATR034
MIFTS: 24

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 58 12 76 30 13 6 74
Asd6 58 12 76
Atrial Heart Septal Defect 6 12 15
Septal Defect, Atrial, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial septal defect 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110111
OMIM 58 613087
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C2751315
UMLS 74 C2751315

Summaries for Atrial Septal Defect 6

UniProtKB/Swiss-Prot : 76 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 atrial heart septal defect. An important gene associated with Atrial Septal Defect 6 is TLL1 (Tolloid Like 1). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. 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.

Description from OMIM: 613087

Related Diseases for Atrial Septal Defect 6

Diseases in the Atrial Septal Defect 3 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
Atrial Septal Defect 4 Atrial Septal Defect 5
Atrial Septal Defect 6 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 atrial heart septal defect 10.0

Symptoms & Phenotypes for Atrial Septal Defect 6

Human phenotypes related to Atrial Septal Defect 6:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 bradycardia 33 occasional (7.5%) HP:0001662
3 atrial septal defect 33 HP:0001631

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Atrial Septal Defect 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 CHRD TLL1

Drugs & Therapeutics for Atrial Septal Defect 6

Drugs for Atrial Septal Defect 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Participation-based Intervention on Community Participation and Parent Empowerment for Children With ASD Enrolling by invitation NCT03721913 Not Applicable

Search 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 30 TLL1

Anatomical Context for Atrial Septal Defect 6

MalaCards organs/tissues related to Atrial Septal Defect 6:

42
Heart

Publications for Atrial Septal Defect 6

Articles related to Atrial Septal Defect 6:

# Title Authors Year
1
Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6. ( 30538173 )
2019

Variations for Atrial Septal Defect 6

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

76
# 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

ClinVar genetic disease variations for Atrial Septal Defect 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TLL1 NM_012464.4(TLL1): c.544A> C (p.Met182Leu) single nucleotide variant Pathogenic rs137852951 GRCh37 Chromosome 4, 166916242: 166916242
2 TLL1 NM_012464.4(TLL1): c.544A> C (p.Met182Leu) single nucleotide variant Pathogenic rs137852951 GRCh38 Chromosome 4, 165995090: 165995090
3 TLL1 NM_012464.4(TLL1): c.713T> C (p.Val238Ala) single nucleotide variant Pathogenic rs137852952 GRCh37 Chromosome 4, 166924623: 166924623
4 TLL1 NM_012464.4(TLL1): c.713T> C (p.Val238Ala) single nucleotide variant Pathogenic rs137852952 GRCh38 Chromosome 4, 166003471: 166003471
5 TLL1 NM_012464.4(TLL1): c.1885A> G (p.Ile629Val) single nucleotide variant Pathogenic rs137852953 GRCh37 Chromosome 4, 166981218: 166981218
6 TLL1 NM_012464.4(TLL1): c.1885A> G (p.Ile629Val) single nucleotide variant Pathogenic rs137852953 GRCh38 Chromosome 4, 166060066: 166060066

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

Biological processes related to Atrial Septal Defect 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.96 CHRD TLL1
2 skeletal system development GO:0001501 8.62 CHRD TLL1

Sources for Atrial Septal Defect 6

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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