MCID: ART071
MIFTS: 32

Aortic Aneurysm, Familial Thoracic 6

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 6

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 6:

Name: Aortic Aneurysm, Familial Thoracic 6 57 75 29 13 6 73
Familial Thoracic Aortic Aneurysm with Livedo Reticularis and Iris Flocculi 57 75
Aat6 57 75
Aneurysm, Aortic, Thoracic, Familial, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
range of onset 3-79 years of age


HPO:

32
aortic aneurysm, familial thoracic 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611788
MedGen 42 C2673186
MeSH 44 D017545
UMLS 73 C2673186

Summaries for Aortic Aneurysm, Familial Thoracic 6

UniProtKB/Swiss-Prot : 75 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, Aorta), and among its related pathways/superpathways are Sweet Taste Signaling and Signaling by Rho GTPases. Affiliated tissues include smooth muscle, and related phenotypes are ascending aortic dissection and aortic aneurysm

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
thoracic aortic aneurysm
ascending aortic aneurysm
aortic dissection (in some patients)


Clinical features from OMIM:

611788

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 6:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ascending aortic dissection 32 HP:0004933
2 aortic aneurysm 32 HP:0004942
3 ascending tubular aorta aneurysm 32 HP:0004970
4 premature coronary artery atherosclerosis 32 very rare (1%) HP:0005181
5 moyamoya phenomenon 32 HP:0011834
6 thoracic aortic aneurysm 32 HP:0012727

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

26
# 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 29 ACTA2

Anatomical Context for Aortic Aneurysm, Familial Thoracic 6

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

41
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 6

Variations for Aortic Aneurysm, Familial Thoracic 6

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

75 (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
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 92)
# 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 ACTA2 NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516685 GRCh37 Chromosome 10, 90699437: 90699437
10 ACTA2 NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516685 GRCh38 Chromosome 10, 88939680: 88939680
11 ACTA2 NM_001613.2(ACTA2): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic/Likely pathogenic rs112901682 GRCh37 Chromosome 10, 90708573: 90708573
12 ACTA2 NM_001613.2(ACTA2): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic/Likely pathogenic rs112901682 GRCh38 Chromosome 10, 88948816: 88948816
13 ACTA2 NM_001613.2(ACTA2): c.145A> G (p.Met49Val) single nucleotide variant Pathogenic rs397515325 GRCh37 Chromosome 10, 90707128: 90707128
14 ACTA2 NM_001613.2(ACTA2): c.145A> G (p.Met49Val) single nucleotide variant Pathogenic rs397515325 GRCh38 Chromosome 10, 88947371: 88947371
15 ACTA2 NM_001613.2(ACTA2): c.720G> C (p.Lys240Asn) single nucleotide variant Likely pathogenic rs727502878 GRCh37 Chromosome 10, 90699352: 90699352
16 ACTA2 NM_001613.2(ACTA2): c.720G> C (p.Lys240Asn) single nucleotide variant Likely pathogenic rs727502878 GRCh38 Chromosome 10, 88939595: 88939595
17 ACTA2 NM_001613.2(ACTA2): c.1019_1020delCT (p.Ser340Cysfs) deletion Uncertain significance rs794728034 GRCh37 Chromosome 10, 90695094: 90695095
18 ACTA2 NM_001613.2(ACTA2): c.1019_1020delCT (p.Ser340Cysfs) deletion Uncertain significance rs794728034 GRCh38 Chromosome 10, 88935337: 88935338
19 ACTA2 NM_001613.2(ACTA2): c.763G> A (p.Glu255Lys) single nucleotide variant Uncertain significance rs794728027 GRCh37 Chromosome 10, 90699309: 90699309
20 ACTA2 NM_001613.2(ACTA2): c.763G> A (p.Glu255Lys) single nucleotide variant Uncertain significance rs794728027 GRCh38 Chromosome 10, 88939552: 88939552
21 ACTA2 NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs794728026 GRCh37 Chromosome 10, 90701124: 90701124
22 ACTA2 NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs794728026 GRCh38 Chromosome 10, 88941367: 88941367
23 ACTA2 NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln) single nucleotide variant Pathogenic rs112602953 GRCh37 Chromosome 10, 90703570: 90703570
24 ACTA2 NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln) single nucleotide variant Pathogenic rs112602953 GRCh38 Chromosome 10, 88943813: 88943813
25 ACTA2 NM_001613.2(ACTA2): c.116G> A (p.Arg39His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728021 GRCh37 Chromosome 10, 90708572: 90708572
26 ACTA2 NM_001613.2(ACTA2): c.116G> A (p.Arg39His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728021 GRCh38 Chromosome 10, 88948815: 88948815
27 ACTA2 NM_001613.2(ACTA2): c.115C> G (p.Arg39Gly) single nucleotide variant Uncertain significance rs112901682 GRCh37 Chromosome 10, 90708573: 90708573
28 ACTA2 NM_001613.2(ACTA2): c.115C> G (p.Arg39Gly) single nucleotide variant Uncertain significance rs112901682 GRCh38 Chromosome 10, 88948816: 88948816
29 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh37 Chromosome 16, 15797967: 15797967
30 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh38 Chromosome 16, 15704110: 15704110
31 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh38 Chromosome 3, 123700935: 123700935
32 MYLK NM_053025.3(MYLK): c.2533C> T (p.Arg845Cys) single nucleotide variant Benign/Likely benign rs3732485 GRCh37 Chromosome 3, 123419782: 123419782
33 ACTA2 NM_001613.2(ACTA2): c.1132T> C (p.Ter378Gln) single nucleotide variant Uncertain significance rs878854465 GRCh37 Chromosome 10, 90694982: 90694982
34 ACTA2 NM_001613.2(ACTA2): c.1132T> C (p.Ter378Gln) single nucleotide variant Uncertain significance rs878854465 GRCh38 Chromosome 10, 88935225: 88935225
35 ACTA2 NM_001613.2(ACTA2): c.324G> T (p.Thr108=) single nucleotide variant Likely benign rs750005327 GRCh37 Chromosome 10, 90703599: 90703599
36 ACTA2 NM_001613.2(ACTA2): c.324G> T (p.Thr108=) single nucleotide variant Likely benign rs750005327 GRCh38 Chromosome 10, 88943842: 88943842
37 ACTA2 NM_001613.2(ACTA2): c.138G> A (p.Met46Ile) single nucleotide variant Uncertain significance rs878854466 GRCh37 Chromosome 10, 90707135: 90707135
38 ACTA2 NM_001613.2(ACTA2): c.138G> A (p.Met46Ile) single nucleotide variant Uncertain significance rs878854466 GRCh38 Chromosome 10, 88947378: 88947378
39 ACTA2 NM_001613.2(ACTA2): c.977C> A (p.Thr326Asn) single nucleotide variant Uncertain significance rs777832794 GRCh38 Chromosome 10, 88938074: 88938074
40 ACTA2 NM_001613.2(ACTA2): c.977C> A (p.Thr326Asn) single nucleotide variant Uncertain significance rs777832794 GRCh37 Chromosome 10, 90697831: 90697831
41 ACTA2 NM_001613.2(ACTA2): c.936C> T (p.Ala312=) single nucleotide variant Likely benign rs200213764 GRCh37 Chromosome 10, 90697872: 90697872
42 ACTA2 NM_001613.2(ACTA2): c.936C> T (p.Ala312=) single nucleotide variant Likely benign rs200213764 GRCh38 Chromosome 10, 88938115: 88938115
43 ACTA2 NM_001613.2(ACTA2): c.593G> A (p.Arg198His) single nucleotide variant Conflicting interpretations of pathogenicity rs746972765 GRCh37 Chromosome 10, 90701009: 90701009
44 ACTA2 NM_001613.2(ACTA2): c.593G> A (p.Arg198His) single nucleotide variant Conflicting interpretations of pathogenicity rs746972765 GRCh38 Chromosome 10, 88941252: 88941252
45 ACTA2 NM_001613.2(ACTA2): c.78C> T (p.Asp26=) single nucleotide variant Benign/Likely benign rs141538225 GRCh38 Chromosome 10, 88948853: 88948853
46 ACTA2 NM_001613.2(ACTA2): c.78C> T (p.Asp26=) single nucleotide variant Benign/Likely benign rs141538225 GRCh37 Chromosome 10, 90708610: 90708610
47 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh38 Chromosome 10, 88941822: 88941822
48 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh37 Chromosome 10, 90701579: 90701579
49 ACTA2 NM_001613.2(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh38 Chromosome 10, 88941849: 88941849
50 ACTA2 NM_001613.2(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh37 Chromosome 10, 90701606: 90701606

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 ACTA2 MYH11 MYLK
2
Show member pathways
12.49 MYH11 MYLK NDE1
3
Show member pathways
12.33 ACTA2 MYH11 MYLK
4
Show member pathways
12.27 ACTA2 MYH11 MYLK
5
Show member pathways
12.07 ACTA2 MYH11 MYLK
6
Show member pathways
11.89 ACTA2 MYH11 MYLK
7 11.57 ACTA2 MYLK
8
Show member pathways
11.46 ACTA2 MYH11
9 10.68 ACTA2 MYH11 MYLK
10 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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55 Novoseek
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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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