AAT6
MCID: ART071
MIFTS: 41

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 57 72 29 13 6 70
Familial Thoracic Aortic Aneurysm with Livedo Reticularis and Iris Flocculi 57 72
Aat6 57 72
Aneurysm, Aortic, Thoracic, Familial, Type 6 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
range of onset 3-79 years of age


HPO:

31
aortic aneurysm, familial thoracic 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 611788
OMIM Phenotypic Series 57 PS607086
MeSH 44 D017545
MedGen 41 C2673186
UMLS 70 C2673186

Summaries for Aortic Aneurysm, Familial Thoracic 6

UniProtKB/Swiss-Prot : 72 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 multisystemic smooth muscle dysfunction syndrome and moyamoya disease 5. An important gene associated with Aortic Aneurysm, Familial Thoracic 6 is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include smooth muscle, and related phenotypes are premature coronary artery atherosclerosis and ascending aortic dissection

More information from OMIM: 611788 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 6

Diseases in the Aortic Aneurysm, Familial Thoracic 4 family:

Aortic Aneurysm, Familial Thoracic 1 Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11

Diseases related to Aortic Aneurysm, Familial Thoracic 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 multisystemic smooth muscle dysfunction syndrome 31.7 ACTA2-AS1 ACTA2
2 moyamoya disease 5 10.2 ACTA2-AS1 ACTA2
3 microcolon 10.1 MYLK MYH11
4 familial abdominal aortic aneurysm 10.1 MYLK FBN1
5 visceral myopathy 10.0 MYLK MYH11
6 lissencephaly 4 10.0 NDE1 MYH11
7 cerebral arterial disease 10.0 MYH11 ACTA2
8 subclavian artery aneurysm 10.0 SLC2A10 FBN1
9 mitochondrial dna depletion syndrome 12b 10.0 TGFBR1 FBN1
10 ehlers-danlos syndrome, vascular type 10.0 MYH11 FBN1 ACTA2
11 sleeping sickness 9.9
12 trypanosomiasis 9.9
13 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 MYLK MYH11 ACTA2
14 cutis laxa, autosomal recessive, type ia 9.9 SLC2A10 FBN1
15 aortic aneurysm, familial abdominal, 1 9.9 MYH11 FBN1 ACTA2
16 autosomal recessive cutis laxa type i 9.9 SLC2A10 FBN1
17 telangiectasis 9.9 TGFBR1 FBN1
18 tricuspid valve insufficiency 9.9 NDE1 MYH11 FBN1
19 mitral valve insufficiency 9.9 NDE1 MYH11 FBN1
20 loeys-dietz syndrome 2 9.8 TGFBR1 MYH11 FBN1
21 aortic aneurysm, familial thoracic 2 9.8 SLC2A10 FBN1 ACTA2
22 hypertrophic scars 9.8 SMAD3 FBN1
23 collagen disease 9.8 TGFBR1 FBN1
24 intestinal pseudo-obstruction 9.8 NDE1 MYLK MYH11
25 moyamoya disease 1 9.8 MYLK MYH11 ACTA2-AS1 ACTA2
26 tricuspid valve prolapse 9.7 TGFBR1 SLC2A10 FBN1
27 cutis laxa, autosomal dominant 1 9.7 TGFBR1 SLC2A10 FBN1
28 aortic valve insufficiency 9.7 TGFBR1 MYH11 FBN1 ACTA2
29 loeys-dietz syndrome 5 9.6 TGFBR1 SMAD3 FBN1
30 orofacial cleft 9.5 TGFBR1 SMAD3 FBN1
31 marfan syndrome 9.4 TGFBR1 MYLK MYH11 FBN1 ACTA2
32 lipoprotein quantitative trait locus 9.4 SMAD3 MYH11 FBN1 ACTA2
33 arterial tortuosity syndrome 9.4 TGFBR1 SLC2A10 MYH11 FBN1 ACTA2
34 pulmonary hypertension 9.3 TGFBR1 SMAD3 ACTA2
35 loeys-dietz syndrome 4 9.3 TGFBR1 SMAD3 SLC2A10 FBN1
36 patent ductus arteriosus 1 9.1 TGFBR1 SLC2A10 MYLK MYH11 FBN1 ACTA2
37 heritable thoracic aortic disease 9.0 TGFBR1 SMAD3 MYLK MYH11 FBN1 ACTA2
38 aortic disease 9.0 TGFBR1 SMAD3 MYLK MYH11 FBN1 ACTA2
39 orthostatic intolerance 8.9 TGFBR1 SMAD3 SLC2A10 MYH11 FBN1 ACTA2
40 connective tissue disease 8.7 TGFBR1 SMAD3 NDE1 MYLK MYH11 FBN1
41 loeys-dietz syndrome 3 8.7 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
42 loeys-dietz syndrome 8.7 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
43 loeys-dietz syndrome 1 8.7 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
44 aortic aneurysm, familial thoracic 1 8.7 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
45 aortic valve disease 1 8.7 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
46 aortic aneurysm, familial thoracic 4 8.4 TGFBR1 SMAD3 SLC2A10 NDE1 MYH11 FBN1
47 aortic dissection 8.4 TGFBR1 SMAD3 SLC2A10 NDE1 MYLK MYH11
48 aortic aneurysm 8.2 TGFBR1 SMAD3 SLC2A10 NDE1 MYLK MYH11
49 aneurysm 8.2 TGFBR1 SMAD3 SLC2A10 NDE1 MYLK MYH11
50 familial thoracic aortic aneurysm and aortic dissection 8.2 TGFBR1 SMAD3 SLC2A10 NDE1 MYLK MYH11

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 premature coronary artery atherosclerosis 31 very rare (1%) HP:0005181
2 ascending aortic dissection 31 HP:0004933
3 aortic aneurysm 31 HP:0004942
4 moyamoya phenomenon 31 HP:0011834
5 ascending tubular aorta aneurysm 31 HP:0004970
6 thoracic aortic aneurysm 31 HP:0012727

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
thoracic aortic aneurysm
ascending aortic aneurysm
aortic dissection (in some patients)

Clinical features from OMIM®:

611788 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACTA2 FBN1 MYH11 MYLK SLC2A10 SMAD3
2 muscle MP:0005369 9.35 ACTA2 FBN1 MYH11 MYLK TGFBR1
3 renal/urinary system MP:0005367 9.02 FBN1 MYH11 MYLK SLC2A10 SMAD3

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:

40
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 6

Articles related to Aortic Aneurysm, Familial Thoracic 6:

(show all 30)
# Title Authors PMID Year
1
Acute aortic dissections with pregnancy in women with ACTA2 mutations. 57 6
24243736 2014
2
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 57 6
21248741 2011
3
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 6 57
19409525 2009
4
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 57 6
17994018 2007
5
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 6
27567161 2017
6
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 6
27481187 2016
7
Genetic testing of 248 Chinese aortopathy patients using a panel assay. 6
27611364 2016
8
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 6
25944730 2015
9
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 6
26153420 2015
10
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 6
26034244 2015
11
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 6
25759435 2015
12
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 6
24020716 2015
13
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 6
25644172 2015
14
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 6
24998021 2014
15
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 6
24621862 2014
16
Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 6
24293535 2013
17
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 6
21937134 2013
18
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 6
22752479 2013
19
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 6
22946110 2012
20
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 6
22831780 2012
21
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 6
21733706 2011
22
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 6
21288906 2011
23
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 6
21212136 2011
24
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 6
20734336 2010
25
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 6
19639654 2009
26
Iris flocculi and familial aortic dissection. 57
7575269 1995
27
Trypanosoma brucei eflornithine transporter AAT6 is a low-affinity low-selective transporter for neutral amino acids. 61
24988048 2014
28
Genome-wide RNAi screens in African trypanosomes identify the nifurtimox activator NTR and the eflornithine transporter AAT6. 61
21093499 2011
29
Genome-wide RNAi screens in bloodstream form trypanosomes identify drug transporters. 61
20851719 2011
30
A comparison of two time intervals for the ausculated acceleration test. 61
11370697 2001

Variations for Aortic Aneurysm, Familial Thoracic 6

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

6 (show top 50) (show all 125)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA2 NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) SNV Pathogenic 18276 rs121434526 GRCh37: 10:90701551-90701551
GRCh38: 10:88941794-88941794
2 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.773G>A (p.Arg258His) SNV Pathogenic 18277 rs121434527 GRCh37: 10:90699299-90699299
GRCh38: 10:88939542-88939542
3 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) SNV Pathogenic 18278 rs121434528 GRCh37: 10:90699300-90699300
GRCh38: 10:88939543-88939543
4 ACTA2 NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) SNV Pathogenic 65449 rs112901682 GRCh37: 10:90708573-90708573
GRCh38: 10:88948816-88948816
5 ACTA2 NM_001613.4(ACTA2):c.145A>G (p.Met49Val) SNV Pathogenic 65450 rs397515325 GRCh37: 10:90707128-90707128
GRCh38: 10:88947371-88947371
6 ACTA2 NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) SNV Pathogenic 199670 rs112602953 GRCh37: 10:90703570-90703570
GRCh38: 10:88943813-88943813
7 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
8 ACTA2 NM_001613.4(ACTA2):c.116G>A (p.Arg39His) SNV Pathogenic 199666 rs794728021 GRCh37: 10:90708572-90708572
GRCh38: 10:88948815-88948815
9 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
10 ACTA2 NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) SNV Pathogenic 265026 rs886039303 GRCh37: 10:90701067-90701067
GRCh38: 10:88941310-88941310
11 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) SNV Pathogenic 44219 rs397516685 GRCh37: 10:90699437-90699437
GRCh38: 10:88939680-88939680
12 ACTA2 NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu) SNV Likely pathogenic 536918 rs1254836237 GRCh37: 10:90707027-90707027
GRCh38: 10:88947270-88947270
13 ACTA2 NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) SNV Likely pathogenic 199665 rs112901682 GRCh37: 10:90708573-90708573
GRCh38: 10:88948816-88948816
14 ACTA2 NM_001613.4(ACTA2):c.554G>A (p.Arg185Gln) SNV Likely pathogenic 381615 rs1057521105 GRCh37: 10:90701048-90701048
GRCh38: 10:88941291-88941291
15 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) SNV Conflicting interpretations of pathogenicity 162701 rs727502878 GRCh37: 10:90699352-90699352
GRCh38: 10:88939595-88939595
16 ACTA2 NM_001613.4(ACTA2):c.420G>A (p.Ala140=) SNV Conflicting interpretations of pathogenicity 264091 rs762567614 GRCh37: 10:90701576-90701576
GRCh38: 10:88941819-88941819
17 ACTA2 NM_001613.4(ACTA2):c.174C>T (p.Asp58=) SNV Conflicting interpretations of pathogenicity 386329 rs150547139 GRCh37: 10:90707099-90707099
GRCh38: 10:88947342-88947342
18 ACTA2 NM_001613.4(ACTA2):c.201G>C (p.Leu67=) SNV Conflicting interpretations of pathogenicity 136278 rs199773697 GRCh37: 10:90707072-90707072
GRCh38: 10:88947315-88947315
19 ACTA2 NM_001613.4(ACTA2):c.390T>C (p.Asn130=) SNV Uncertain significance 301509 rs141933412 GRCh37: 10:90701606-90701606
GRCh38: 10:88941849-88941849
20 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*104C>G SNV Uncertain significance 877831 GRCh37: 10:90694876-90694876
GRCh38: 10:88935119-88935119
21 ACTA2 NM_001141945.2(ACTA2):c.-23-3831T>C SNV Uncertain significance 877877 GRCh37: 10:90712541-90712541
GRCh38: 10:88952784-88952784
22 ACTA2 NM_001141945.2(ACTA2):c.-23-3850C>G SNV Uncertain significance 877878 GRCh37: 10:90712560-90712560
GRCh38: 10:88952803-88952803
23 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.645G>A (p.Lys215=) SNV Uncertain significance 877990 GRCh37: 10:90699427-90699427
GRCh38: 10:88939670-88939670
24 ACTA2 NM_001613.4(ACTA2):c.456C>T (p.Gly152=) SNV Uncertain significance 877991 GRCh37: 10:90701146-90701146
GRCh38: 10:88941389-88941389
25 ACTA2 NM_001613.4(ACTA2):c.258+5G>T SNV Uncertain significance 879456 GRCh37: 10:90707010-90707010
GRCh38: 10:88947253-88947253
26 ACTA2 NM_001613.4(ACTA2):c.24T>G (p.Thr8=) SNV Uncertain significance 879816 GRCh37: 10:90708664-90708664
GRCh38: 10:88948907-88948907
27 ACTA2 NM_001613.4(ACTA2):c.406G>T (p.Val136Leu) SNV Uncertain significance 934622 GRCh37: 10:90701590-90701590
GRCh38: 10:88941833-88941833
28 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn) SNV Uncertain significance 935538 GRCh37: 10:90695002-90695002
GRCh38: 10:88935245-88935245
29 ACTA2 NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) SNV Uncertain significance 389807 rs772473154 GRCh37: 10:90701049-90701049
GRCh38: 10:88941292-88941292
30 ACTA2 NM_001613.4(ACTA2):c.446G>A (p.Arg149His) SNV Uncertain significance 519580 rs794728025 GRCh37: 10:90701550-90701550
GRCh38: 10:88941793-88941793
31 ACTA2 NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) SNV Uncertain significance 384419 rs779757924 GRCh37: 10:90703627-90703627
GRCh38: 10:88943870-88943870
32 ACTA2 NM_001613.4(ACTA2):c.104C>A (p.Ser35Tyr) SNV Uncertain significance 951989 GRCh37: 10:90708584-90708584
GRCh38: 10:88948827-88948827
33 ACTA2 NM_001613.4(ACTA2):c.76G>C (p.Asp26His) SNV Uncertain significance 927995 GRCh37: 10:90708612-90708612
GRCh38: 10:88948855-88948855
34 ACTA2 NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser) SNV Uncertain significance 962639 GRCh37: 10:90708684-90708684
GRCh38: 10:88948927-88948927
35 ACTA2 NM_001613.4(ACTA2):c.403T>C (p.Tyr135His) SNV Uncertain significance 628908 rs751300489 GRCh37: 10:90701593-90701593
GRCh38: 10:88941836-88941836
36 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.814G>T (p.Glu272Ter) SNV Uncertain significance 969713 GRCh37: 10:90697994-90697994
GRCh38: 10:88938237-88938237
37 ACTA2 NM_001613.4(ACTA2):c.512A>G (p.Tyr171Cys) SNV Uncertain significance 971498 GRCh37: 10:90701090-90701090
GRCh38: 10:88941333-88941333
38 SMAD3 NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val) SNV Uncertain significance 978313 GRCh37: 15:67479829-67479829
GRCh38: 15:67187491-67187491
39 FBN1 NM_000138.4(FBN1):c.6493G>T (p.Val2165Leu) SNV Uncertain significance 495637 rs200469438 GRCh37: 15:48729161-48729161
GRCh38: 15:48436964-48436964
40 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala) SNV Uncertain significance 979112 GRCh37: 10:90699381-90699381
GRCh38: 10:88939624-88939624
41 ACTA2 NM_001613.4(ACTA2):c.154A>G (p.Lys52Glu) SNV Uncertain significance 636606 rs1589399071 GRCh37: 10:90707119-90707119
GRCh38: 10:88947362-88947362
42 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.656_657del (p.Cys219fs) Microsatellite Uncertain significance 999316 GRCh37: 10:90699415-90699416
GRCh38: 10:88939658-88939659
43 ACTA2 NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) SNV Uncertain significance 1000368 GRCh37: 10:90703556-90703556
GRCh38: 10:88943799-88943799
44 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) SNV Uncertain significance 199676 rs794728029 GRCh37: 10:90697999-90697999
GRCh38: 10:88938242-88938242
45 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.757G>C (p.Gly253Arg) SNV Uncertain significance 1051381 GRCh37: 10:90699315-90699315
GRCh38: 10:88939558-88939558
46 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.758G>T (p.Gly253Val) SNV Uncertain significance 1052986 GRCh37: 10:90699314-90699314
GRCh38: 10:88939557-88939557
47 ACTA2 NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) SNV Uncertain significance 1053987 GRCh37: 10:90703571-90703571
GRCh38: 10:88943814-88943814
48 ACTA2 NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg) SNV Uncertain significance 1054067 GRCh37: 10:90708633-90708633
GRCh38: 10:88948876-88948876
49 ACTA2 NM_001613.4(ACTA2):c.223C>A (p.His75Asn) SNV Uncertain significance 1054571 GRCh37: 10:90707050-90707050
GRCh38: 10:88947293-88947293
50 ACTA2 NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) SNV Uncertain significance 1057228 GRCh37: 10:90701592-90701592
GRCh38: 10:88941835-88941835

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

72 (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 rs155484129
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

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 TGFBR1 SMAD3 MYLK MYH11 FBN1 ACTA2
2
Show member pathways
13.03 TGFBR1 MYLK MYH11 FBN1 ACTA2
3
Show member pathways
12.8 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 ACTA2
4
Show member pathways
12.24 MYLK MYH11 ACTA2
5
Show member pathways
12.17 MYLK MYH11 ACTA2
6 11.47 TGFBR1 SMAD3 FBN1
7 11.39 TGFBR1 SMAD3 MYLK ACTA2
8 11.34 TGFBR1 SMAD3
9 11.31 TGFBR1 SMAD3 ACTA2
10 11.27 TGFBR1 SMAD3
11 11.27 TGFBR1 SMAD3
12 11.2 TGFBR1 SMAD3
13 11.15 MYLK MYH11 ACTA2
14 11.14 TGFBR1 SMAD3
15 10.95 TGFBR1 SMAD3
16 10.89 MYLK MYH11 ACTA2
17 10.69 TGFBR1 SMAD3
18 10.2 TGFBR1 SMAD3 FBN1

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 cleavage furrow GO:0032154 8.62 NDE1 MYLK

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.67 TGFBR1 SMAD3 SLC2A10 ACTA2
2 positive regulation of cell migration GO:0030335 9.63 TGFBR1 SMAD3 MYLK
3 skeletal system development GO:0001501 9.5 TGFBR1 SMAD3 FBN1
4 positive regulation of stress fiber assembly GO:0051496 9.49 TGFBR1 SMAD3
5 positive regulation of epithelial to mesenchymal transition GO:0010718 9.48 TGFBR1 SMAD3
6 embryonic cranial skeleton morphogenesis GO:0048701 9.43 TGFBR1 SMAD3
7 activin receptor signaling pathway GO:0032924 9.4 TGFBR1 SMAD3
8 muscle contraction GO:0006936 9.33 MYLK MYH11 ACTA2
9 smooth muscle contraction GO:0006939 9.26 MYLK MYH11
10 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.13 TGFBR1 SMAD3 SLC2A10
11 cellular response to transforming growth factor beta stimulus GO:0071560 8.8 TGFBR1 SMAD3 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 8.96 TGFBR1 SMAD3
2 I-SMAD binding GO:0070411 8.62 TGFBR1 SMAD3

Sources for Aortic Aneurysm, Familial Thoracic 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
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46 MGI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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