AAT2
MCID: ART068
MIFTS: 31

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 58 13 6 74
Aat2 58
Faa2 58

Classifications:



External Ids:

OMIM 58 607087
MedGen 43 C1846837
UMLS 74 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), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drug Nicotine has been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and muscle

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ACTA2 COL3A1 FBN1 FBN2 FLNA SLC2A10
2 muscle MP:0005369 9.26 ACTA2 COL3A1 FBN1 FBN2
3 respiratory system MP:0005388 9.02 COL3A1 FBN1 FBN2 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 89594 942

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
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. ( 24882528 )
2014
2
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). ( 25173340 )
2014
3
Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae. ( 9288922 )
1997
4
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 rs1553509307 GRCh38 Chromosome 2, 189005426: 189005426
8 COL3A1 NM_000090.3(COL3A1): c.3008T> C (p.Leu1003Pro) single nucleotide variant Uncertain significance rs1553509307 GRCh37 Chromosome 2, 189870152: 189870152
9 FBN2 NM_001999.3(FBN2): c.2392G> A (p.Gly798Ser) single nucleotide variant Uncertain significance rs1554063781 GRCh38 Chromosome 5, 128364636: 128364636
10 FBN2 NM_001999.3(FBN2): c.2392G> A (p.Gly798Ser) single nucleotide variant Uncertain significance rs1554063781 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

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 extracellular matrix GO:0031012 9.33 COL3A1 FBN1 FBN2
2 collagen-containing extracellular matrix GO:0062023 9.13 COL3A1 FBN1 FBN2
3 microfibril GO:0001527 8.62 FBN1 FBN2

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

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.37 COL3A1 FLNA
2 extracellular matrix organization GO:0030198 9.33 COL3A1 FBN1 FBN2
3 cerebral cortex development GO:0021987 9.32 COL3A1 FLNA
4 camera-type eye development GO:0043010 9.26 FBN1 FBN2
5 embryonic eye morphogenesis GO:0048048 8.96 FBN1 FBN2
6 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 FBN1 FBN2

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.26 COL3A1 FBN1
2 SMAD binding GO:0046332 9.16 COL3A1 FLNA
3 extracellular matrix structural constituent GO:0005201 9.13 COL3A1 FBN1 FBN2
4 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 FBN2

Sources for Aortic Aneurysm, Familial Thoracic 2

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
Content
Loading form....