MCID: ATR034
MIFTS: 20

Atrial Septal Defect 6

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atrial Septal Defect 6

MalaCards integrated aliases for Atrial Septal Defect 6:

Name: Atrial Septal Defect 6 57 12 75 29 13 6 73
Asd6 57 12 75
Atrial Heart Septal Defect 6 12 15
Septal Defect, Atrial, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613087
Disease Ontology 12 DOID:0110111
ICD10 33 Q21.1
MedGen 42 C2751315
MeSH 44 D006344
UMLS 73 C2751315

Summaries for Atrial Septal Defect 6

UniProtKB/Swiss-Prot : 75 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, is also known as asd6. An important gene associated with Atrial Septal Defect 6 is TLL1 (Tolloid Like 1). Affiliated tissues include heart, and related phenotypes are atrial septal defect 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

Symptoms & Phenotypes for Atrial Septal Defect 6

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

613087

Human phenotypes related to Atrial Septal Defect 6:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 bradycardia 32 occasional (7.5%) HP:0001662
3 atrial fibrillation 32 occasional (7.5%) HP:0005110

MGI Mouse Phenotypes related to Atrial Septal Defect 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.96 INS TLL1
2 liver/biliary system MP:0005370 8.62 INS TLL1

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:

41
Heart

Publications for Atrial Septal Defect 6

Variations for Atrial Septal Defect 6

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

75
# 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

Sources for Atrial Septal Defect 6

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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