AAT6
MCID: ART071
MIFTS: 34

Aortic Aneurysm, Familial Thoracic 6 (AAT6)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 6

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 6:

Name: Aortic Aneurysm, Familial Thoracic 6 58 76 30 13 6 74
Familial Thoracic Aortic Aneurysm with Livedo Reticularis and Iris Flocculi 58 76
Aat6 58 76
Aneurysm, Aortic, Thoracic, Familial, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
range of onset 3-79 years of age


HPO:

33
aortic aneurysm, familial thoracic 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 611788
MeSH 45 D017545
MedGen 43 C2673186
UMLS 74 C2673186

Summaries for Aortic Aneurysm, Familial Thoracic 6

UniProtKB/Swiss-Prot : 76 Aortic aneurysm, familial thoracic 6: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 6, also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi, is related to moyamoya disease 5 and multisystemic smooth muscle dysfunction syndrome. An important gene associated with Aortic Aneurysm, Familial Thoracic 6 is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways are Sweet Taste Signaling and Signaling by Rho GTPases. Affiliated tissues include smooth muscle, and related phenotypes are premature coronary artery atherosclerosis and ascending aortic dissection

Description from OMIM: 611788

Related Diseases for Aortic Aneurysm, Familial Thoracic 6

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 6:



Diseases related to Aortic Aneurysm, Familial Thoracic 6

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 6

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 6:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 premature coronary artery atherosclerosis 33 very rare (1%) HP:0005181
2 ascending aortic dissection 33 HP:0004933
3 aortic aneurysm 33 HP:0004942
4 moyamoya phenomenon 33 HP:0011834
5 thoracic aortic aneurysm 33 HP:0012727
6 ascending tubular aorta aneurysm 33 HP:0004970

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
thoracic aortic aneurysm
ascending aortic aneurysm
aortic dissection (in some patients)

Clinical features from OMIM:

611788

GenomeRNAi Phenotypes related to Aortic Aneurysm, Familial Thoracic 6 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 8.96 MYH11 MYLK
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 8.8 MYH11 MYLK
3 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 8.8 MYLK

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 6

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 6

Genetic Tests for Aortic Aneurysm, Familial Thoracic 6

Genetic tests related to Aortic Aneurysm, Familial Thoracic 6:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 6 30 ACTA2

Anatomical Context for Aortic Aneurysm, Familial Thoracic 6

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 6:

42
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 6

Articles related to Aortic Aneurysm, Familial Thoracic 6:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. ( 24882528 )
2014
4
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
5
Trypanosoma brucei eflornithine transporter AAT6 is a low-affinity low-selective transporter for neutral amino acids. ( 24988048 )
2014
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
7
Genome-wide RNAi screens in African trypanosomes identify the nifurtimox activator NTR and the eflornithine transporter AAT6. ( 21093499 )
2011
8
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. ( 21248741 )
2011
9
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. ( 19409525 )
2009
10
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. ( 17994018 )
2007

Variations for Aortic Aneurysm, Familial Thoracic 6

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 6:

76 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ACTA2 p.Asn117Thr VAR_045915
2 ACTA2 p.Arg118Gln VAR_045916 rs112602953
3 ACTA2 p.Tyr135His VAR_045917 rs751300489
4 ACTA2 p.Arg149Cys VAR_045918 rs121434526
5 ACTA2 p.Val154Ala VAR_045919
6 ACTA2 p.Arg258Cys VAR_045920 rs121434528
7 ACTA2 p.Arg258His VAR_045921 rs121434527
8 ACTA2 p.Arg292Gly VAR_045922
9 ACTA2 p.Thr353Asn VAR_045923
10 ACTA2 p.Arg39His VAR_062577 rs794728021
11 ACTA2 p.Tyr145Cys VAR_062578
12 ACTA2 p.Arg185Gln VAR_062579 rs105752110
13 ACTA2 p.Arg212Gln VAR_062580 rs397516685
14 ACTA2 p.Thr326Asn VAR_062581 rs777832794

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 6:

6 (show top 50) (show all 126)
# 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 ACTA2 NM_001613.2(ACTA2): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs121434527 GRCh37 Chromosome 10, 90699299: 90699299
4 ACTA2 NM_001613.2(ACTA2): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs121434527 GRCh38 Chromosome 10, 88939542: 88939542
5 ACTA2 NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434528 GRCh37 Chromosome 10, 90699300: 90699300
6 ACTA2 NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434528 GRCh38 Chromosome 10, 88939543: 88939543
7 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
8 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh38 Chromosome 10, 88941309: 88941309
9 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh37 Chromosome 16, 15820917: 15820917
10 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh38 Chromosome 16, 15727060: 15727060
11 ACTA2 NM_001613.2(ACTA2): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs397516684 GRCh37 Chromosome 10, 90700995: 90700995
12 ACTA2 NM_001613.2(ACTA2): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs397516684 GRCh38 Chromosome 10, 88941238: 88941238
13 ACTA2 NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln) single nucleotide variant Pathogenic rs397516685 GRCh37 Chromosome 10, 90699437: 90699437
14 ACTA2 NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln) single nucleotide variant Pathogenic rs397516685 GRCh38 Chromosome 10, 88939680: 88939680
15 ACTA2 NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic/Likely pathogenic rs112901682 GRCh37 Chromosome 10, 90708573: 90708573
16 ACTA2 NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic/Likely pathogenic rs112901682 GRCh38 Chromosome 10, 88948816: 88948816
17 ACTA2 NM_001613.2(ACTA2): c.145A> G (p.Met49Val) single nucleotide variant Pathogenic rs397515325 GRCh37 Chromosome 10, 90707128: 90707128
18 ACTA2 NM_001613.2(ACTA2): c.145A> G (p.Met49Val) single nucleotide variant Pathogenic rs397515325 GRCh38 Chromosome 10, 88947371: 88947371
19 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh37 Chromosome 10, 90707072: 90707072
20 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh38 Chromosome 10, 88947315: 88947315
21 ACTA2 NM_001613.2(ACTA2): c.720G> C (p.Lys240Asn) single nucleotide variant Likely pathogenic rs727502878 GRCh37 Chromosome 10, 90699352: 90699352
22 ACTA2 NM_001613.2(ACTA2): c.720G> C (p.Lys240Asn) single nucleotide variant Likely pathogenic rs727502878 GRCh38 Chromosome 10, 88939595: 88939595
23 ACTA2 NM_001613.2(ACTA2): c.1019_1020delCT (p.Ser340Cysfs) deletion Uncertain significance rs794728034 GRCh37 Chromosome 10, 90695094: 90695095
24 ACTA2 NM_001613.2(ACTA2): c.1019_1020delCT (p.Ser340Cysfs) deletion Uncertain significance rs794728034 GRCh38 Chromosome 10, 88935337: 88935338
25 ACTA2 NM_001613.2(ACTA2): c.808G> A (p.Gly270Arg) single nucleotide variant Uncertain significance rs794728028 GRCh37 Chromosome 10, 90699264: 90699264
26 ACTA2 NM_001613.2(ACTA2): c.808G> A (p.Gly270Arg) single nucleotide variant Uncertain significance rs794728028 GRCh38 Chromosome 10, 88939507: 88939507
27 ACTA2 NM_001613.2(ACTA2): c.763G> A (p.Glu255Lys) single nucleotide variant Uncertain significance rs794728027 GRCh37 Chromosome 10, 90699309: 90699309
28 ACTA2 NM_001613.2(ACTA2): c.763G> A (p.Glu255Lys) single nucleotide variant Uncertain significance rs794728027 GRCh38 Chromosome 10, 88939552: 88939552
29 ACTA2 NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs794728026 GRCh37 Chromosome 10, 90701124: 90701124
30 ACTA2 NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs794728026 GRCh38 Chromosome 10, 88941367: 88941367
31 ACTA2 NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln) single nucleotide variant Pathogenic rs112602953 GRCh37 Chromosome 10, 90703570: 90703570
32 ACTA2 NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln) single nucleotide variant Pathogenic rs112602953 GRCh38 Chromosome 10, 88943813: 88943813
33 ACTA2 NM_001613.2(ACTA2): c.116G> A (p.Arg39His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728021 GRCh37 Chromosome 10, 90708572: 90708572
34 ACTA2 NM_001613.2(ACTA2): c.116G> A (p.Arg39His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728021 GRCh38 Chromosome 10, 88948815: 88948815
35 ACTA2 NM_001613.2(ACTA2): c.115C> G (p.Arg39Gly) single nucleotide variant Uncertain significance rs112901682 GRCh37 Chromosome 10, 90708573: 90708573
36 ACTA2 NM_001613.2(ACTA2): c.115C> G (p.Arg39Gly) single nucleotide variant Uncertain significance rs112901682 GRCh38 Chromosome 10, 88948816: 88948816
37 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh37 Chromosome 16, 15797967: 15797967
38 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh38 Chromosome 16, 15704110: 15704110
39 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh38 Chromosome 3, 123700935: 123700935
40 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh37 Chromosome 3, 123419782: 123419782
41 ACTA2 NM_001613.2(ACTA2): c.1132T> C (p.Ter378Gln) single nucleotide variant Uncertain significance rs878854465 GRCh37 Chromosome 10, 90694982: 90694982
42 ACTA2 NM_001613.2(ACTA2): c.1132T> C (p.Ter378Gln) single nucleotide variant Uncertain significance rs878854465 GRCh38 Chromosome 10, 88935225: 88935225
43 ACTA2 NM_001613.2(ACTA2): c.324G> T (p.Thr108=) single nucleotide variant Likely benign rs750005327 GRCh37 Chromosome 10, 90703599: 90703599
44 ACTA2 NM_001613.2(ACTA2): c.324G> T (p.Thr108=) single nucleotide variant Likely benign rs750005327 GRCh38 Chromosome 10, 88943842: 88943842
45 ACTA2 NM_001613.2(ACTA2): c.138G> A (p.Met46Ile) single nucleotide variant Uncertain significance rs878854466 GRCh37 Chromosome 10, 90707135: 90707135
46 ACTA2 NM_001613.2(ACTA2): c.138G> A (p.Met46Ile) single nucleotide variant Uncertain significance rs878854466 GRCh38 Chromosome 10, 88947378: 88947378
47 ACTA2 NM_001613.2(ACTA2): c.977C> A (p.Thr326Asn) single nucleotide variant Uncertain significance rs777832794 GRCh38 Chromosome 10, 88938074: 88938074
48 ACTA2 NM_001613.2(ACTA2): c.977C> A (p.Thr326Asn) single nucleotide variant Uncertain significance rs777832794 GRCh37 Chromosome 10, 90697831: 90697831
49 ACTA2 NM_001613.2(ACTA2): c.936C> T (p.Ala312=) single nucleotide variant Benign/Likely benign rs200213764 GRCh37 Chromosome 10, 90697872: 90697872
50 ACTA2 NM_001613.2(ACTA2): c.936C> T (p.Ala312=) single nucleotide variant Benign/Likely benign rs200213764 GRCh38 Chromosome 10, 88938115: 88938115

Expression for Aortic Aneurysm, Familial Thoracic 6

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 6.

Pathways for Aortic Aneurysm, Familial Thoracic 6

Pathways related to Aortic Aneurysm, Familial Thoracic 6 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ACTA2 MYH11 MYLK
2
Show member pathways
12.49 MYH11 MYLK NDE1
3
Show member pathways
12.44 ACTA2 MYH11 MYLK
4
Show member pathways
12.23 ACTA2 MYH11 MYLK
5
Show member pathways
12.09 ACTA2 MYH11 MYLK
6
Show member pathways
11.89 ACTA2 MYH11 MYLK
7
Show member pathways
11.65 ACTA2 MYH11 MYLK
8 11.61 ACTA2 MYLK
9
Show member pathways
11.46 ACTA2 MYH11
10 10.68 ACTA2 MYH11 MYLK
11 10.36 ACTA2 MYH11 MYLK

GO Terms for Aortic Aneurysm, Familial Thoracic 6

Cellular components related to Aortic Aneurysm, Familial Thoracic 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 8.96 ACTA2 MYLK
2 cleavage furrow GO:0032154 8.62 MYLK NDE1

Biological processes related to Aortic Aneurysm, Familial Thoracic 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 smooth muscle contraction GO:0006939 8.96 MYH11 MYLK
2 muscle contraction GO:0006936 8.8 ACTA2 MYH11 MYLK

Sources for Aortic Aneurysm, Familial Thoracic 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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