AAT2
MCID: ART068
MIFTS: 23

Aortic Aneurysm, Familial Thoracic 2 (AAT2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 2

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 2:

Name: Aortic Aneurysm, Familial Thoracic 2 57 13 6 73
Aat2 57
Faa2 57

Classifications:



External Ids:

OMIM 57 607087
MedGen 42 C1846837
UMLS 73 C1846837

Summaries for Aortic Aneurysm, Familial Thoracic 2

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 2, also known as aat2, is related to aortic aneurysm, familial thoracic 1 and patent ductus arteriosus 1. An important gene associated with Aortic Aneurysm, Familial Thoracic 2 is ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta), and among its related pathways/superpathways are PAK Pathway and SMAD Signaling Network. The drug Nicotine has been mentioned in the context of this disorder. Related phenotype is cardiovascular system.

Description from OMIM: 607087

Related Diseases for Aortic Aneurysm, Familial Thoracic 2

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 2:



Diseases related to Aortic Aneurysm, Familial Thoracic 2

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 2

Clinical features from OMIM:

607087

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.92 ACTA2 FBN1 FLNA SLC2A10

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 2

Drugs for Aortic Aneurysm, Familial Thoracic 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 2 54-11-5 942 89594

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tobacco Approach Avoidance Training for Adolescent Smokers-2 Completed NCT01625637 Phase 2

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 2

Genetic Tests for Aortic Aneurysm, Familial Thoracic 2

Anatomical Context for Aortic Aneurysm, Familial Thoracic 2

Publications for Aortic Aneurysm, Familial Thoracic 2

Articles related to Aortic Aneurysm, Familial Thoracic 2:

# Title Authors Year
1
Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae. ( 9288922 )
1997
2
Molecular analysis of allelic polymorphism at the AAT2 locus of alfalfa. ( 8232195 )
1993

Variations for Aortic Aneurysm, Familial Thoracic 2

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA2 NM_001613.3(ACTA2): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs121434526 GRCh37 Chromosome 10, 90701551: 90701551
2 ACTA2 NM_001613.3(ACTA2): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs121434526 GRCh38 Chromosome 10, 88941794: 88941794
3 SLC2A10 NM_030777.3(SLC2A10): c.1370C> T (p.Ala457Val) single nucleotide variant Uncertain significance rs201393026 GRCh37 Chromosome 20, 45355584: 45355584
4 SLC2A10 NM_030777.3(SLC2A10): c.1370C> T (p.Ala457Val) single nucleotide variant Uncertain significance rs201393026 GRCh38 Chromosome 20, 46726945: 46726945
5 FLNA NM_001456.3(FLNA): c.3995A> G (p.Asp1332Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200615848 GRCh37 Chromosome X, 153587999: 153587999
6 FLNA NM_001456.3(FLNA): c.3995A> G (p.Asp1332Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200615848 GRCh38 Chromosome X, 154359631: 154359631
7 COL3A1 NM_000090.3(COL3A1): c.3008T> C (p.Leu1003Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 189005426: 189005426
8 COL3A1 NM_000090.3(COL3A1): c.3008T> C (p.Leu1003Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 189870152: 189870152
9 FBN2 NM_001999.3(FBN2): c.2392G> A (p.Gly798Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 128364636: 128364636
10 FBN2 NM_001999.3(FBN2): c.2392G> A (p.Gly798Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 127700329: 127700329
11 FBN1 NM_000138.4(FBN1): c.7099G> A (p.Gly2367Arg) single nucleotide variant Uncertain significance rs368978109 GRCh38 Chromosome 15, 48427672: 48427672
12 FBN1 NM_000138.4(FBN1): c.7099G> A (p.Gly2367Arg) single nucleotide variant Uncertain significance rs368978109 GRCh37 Chromosome 15, 48719869: 48719869

Expression for Aortic Aneurysm, Familial Thoracic 2

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 2.

Pathways for Aortic Aneurysm, Familial Thoracic 2

Pathways related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ACTA2 FLNA SLC2A10
2 11.24 ACTA2 FLNA
3 10.8 ACTA2 FLNA
4 10.69 ACTA2 FLNA
5 10.02 FBN1 FLNA

GO Terms for Aortic Aneurysm, Familial Thoracic 2

Cellular components related to Aortic Aneurysm, Familial Thoracic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.62 ACTA2 FLNA

Sources for Aortic Aneurysm, Familial Thoracic 2

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
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37 KEGG
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45 MESH via Orphanet
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49 NCI
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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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