MCID: HRT036
MIFTS: 8

Heritable Thoracic Aortic Disease

Aliases & Classifications for Heritable Thoracic Aortic Disease

MalaCards integrated aliases for Heritable Thoracic Aortic Disease:

Name: Heritable Thoracic Aortic Disease 25 30 6

Summaries for Heritable Thoracic Aortic Disease

MalaCards based summary : Heritable Thoracic Aortic Disease is related to aortic disease and cardiac conduction defect. An important gene associated with Heritable Thoracic Aortic Disease is SMAD4 (SMAD Family Member 4). Affiliated tissues include heart.

GeneReviews: NBK1120

Related Diseases for Heritable Thoracic Aortic Disease

Diseases related to Heritable Thoracic Aortic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic disease 10.3
2 cardiac conduction defect 10.0
3 marfan syndrome 10.0
4 rere-related disorders 10.0

Symptoms & Phenotypes for Heritable Thoracic Aortic Disease

Drugs & Therapeutics for Heritable Thoracic Aortic Disease

Search Clinical Trials , NIH Clinical Center for Heritable Thoracic Aortic Disease

Genetic Tests for Heritable Thoracic Aortic Disease

Genetic tests related to Heritable Thoracic Aortic Disease:

# Genetic test Affiliating Genes
1 Heritable Thoracic Aortic Disease 30

Anatomical Context for Heritable Thoracic Aortic Disease

MalaCards organs/tissues related to Heritable Thoracic Aortic Disease:

42
Heart

Publications for Heritable Thoracic Aortic Disease

Articles related to Heritable Thoracic Aortic Disease:

# Title Authors Year
1
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. ( 29717556 )
2018
2
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants". ( 29961567 )
2018
3
Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there? ( 25218541 )
2014
4
Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? ( 20186673 )
2010

Variations for Heritable Thoracic Aortic Disease

ClinVar genetic disease variations for Heritable Thoracic Aortic Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD4 NM_005359.5(SMAD4): c.70A> G (p.Met24Val) single nucleotide variant Uncertain significance rs876659391 GRCh37 Chromosome 18, 48573486: 48573486
2 SMAD4 NM_005359.5(SMAD4): c.70A> G (p.Met24Val) single nucleotide variant Uncertain significance rs876659391 GRCh38 Chromosome 18, 51047116: 51047116
3 SMAD4 NM_005359.5(SMAD4): c.736C> A (p.Pro246Thr) single nucleotide variant Uncertain significance rs876659967 GRCh37 Chromosome 18, 48584563: 48584563
4 SMAD4 NM_005359.5(SMAD4): c.736C> A (p.Pro246Thr) single nucleotide variant Uncertain significance rs876659967 GRCh38 Chromosome 18, 51058193: 51058193
5 SMAD4 NM_005359.5(SMAD4): c.290G> T (p.Arg97Leu) single nucleotide variant Likely pathogenic rs1555685159 GRCh38 Chromosome 18, 51048726: 51048726
6 SMAD4 NM_005359.5(SMAD4): c.290G> T (p.Arg97Leu) single nucleotide variant Likely pathogenic rs1555685159 GRCh37 Chromosome 18, 48575096: 48575096

Expression for Heritable Thoracic Aortic Disease

Search GEO for disease gene expression data for Heritable Thoracic Aortic Disease.

Pathways for Heritable Thoracic Aortic Disease

GO Terms for Heritable Thoracic Aortic Disease

Sources for Heritable Thoracic Aortic Disease

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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