AAT4
MCID: ART028
MIFTS: 29

Aortic Aneurysm, Familial Thoracic 4 (AAT4)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 4

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 4:

Name: Aortic Aneurysm, Familial Thoracic 4 58 54 76 30 13 6 74
Aortic Aneurysm/aortic Dissection and Patent Ductus Arteriosus 58 54 76
Aat4 58 54 76
Faa4 58 54 76
Non-Syndromic Thoracic Aortic Aneurysms and Dissection 76
Aneurysm, Aortic, Thoracic, Familial, Type 4 41
Thoracic Aortic Aneurysms and Dissection 76
Aneurysms, Aortic, Thoracic, Dissections 41
Familial Aortic Aneurysm 4 76
Taad 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
family history of sudden death, as early as fourth decade of life


HPO:

33
aortic aneurysm, familial thoracic 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 4

UniProtKB/Swiss-Prot : 76 Aortic aneurysm, familial thoracic 4: 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 4, also known as aortic aneurysm/aortic dissection and patent ductus arteriosus, is related to aortic aneurysm, familial thoracic 6 and familial thoracic aortic aneurysm and dissection. An important gene associated with Aortic Aneurysm, Familial Thoracic 4 is MYH11 (Myosin Heavy Chain 11), and among its related pathways/superpathways is Signaling by Rho GTPases. Affiliated tissues include smooth muscle, and related phenotypes are ascending aortic dissection and stroke

Description from OMIM: 132900

Related Diseases for Aortic Aneurysm, Familial Thoracic 4

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 4:



Diseases related to Aortic Aneurysm, Familial Thoracic 4

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 4

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 4:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ascending aortic dissection 33 occasional (7.5%) HP:0004933
2 stroke 33 occasional (7.5%) HP:0001297
3 coronary artery atherosclerosis 33 very rare (1%) HP:0001677
4 patent ductus arteriosus 33 HP:0001643
5 bicuspid aortic valve 33 HP:0001647
6 aortic regurgitation 33 HP:0001659
7 aortic aneurysm 33 HP:0004942
8 left ventricular dysfunction 33 HP:0005162
9 abnormal iris pigmentation 33 HP:0008034
10 cystic medial necrosis 33 HP:0012180

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
patent ductus arteriosus
aneurysm, ascending aorta
dissection, ascending aorta (in some patients)
aneurysm, descending aorta (in some patients)
dissection, descending aorta (in some patients)
more
Neurologic Central Nervous System:
stroke (in some patients)

Cardiovascular Heart:
aortic valve regurgitation
left ventricular failure

Clinical features from OMIM:

132900

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 4

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 4

Genetic Tests for Aortic Aneurysm, Familial Thoracic 4

Genetic tests related to Aortic Aneurysm, Familial Thoracic 4:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 4 30 MYH11

Anatomical Context for Aortic Aneurysm, Familial Thoracic 4

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 4:

42
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 4

Articles related to Aortic Aneurysm, Familial Thoracic 4:

# 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
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. ( 17666408 )
2007
7
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. ( 16444274 )
2006
8
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. ( 14722581 )
2004
9
Aortic dissection and patent ductus arteriosus in three generations. ( 11249915 )
2001
10
Characterization of a soybean cDNA clone encoding the mitochondrial isozyme of aspartate aminotransferase, AAT4. ( 7766891 )
1995

Variations for Aortic Aneurysm, Familial Thoracic 4

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 4:

76
# Symbol AA change Variation ID SNP ID
1 MYH11 p.Arg1758Gln VAR_031735 rs142546324

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 4:

6 (show top 50) (show all 747)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH11 NM_001040113.1(MYH11): c.5294G> A (p.Arg1765Gln) single nucleotide variant Uncertain significance rs142546324 GRCh37 Chromosome 16, 15812194: 15812194
2 MYH11 NM_001040113.1(MYH11): c.5294G> A (p.Arg1765Gln) single nucleotide variant Uncertain significance rs142546324 GRCh38 Chromosome 16, 15718337: 15718337
3 MYH11 NM_001040113.1(MYH11): c.3743_3814del72 (p.Arg1248_Leu1271del) deletion Pathogenic rs1555554098 GRCh37 Chromosome 16, 15820770: 15820841
4 MYH11 NM_001040113.1(MYH11): c.3743_3814del72 (p.Arg1248_Leu1271del) deletion Pathogenic rs1555554098 GRCh38 Chromosome 16, 15726913: 15726984
5 MYH11 NM_001040113.1(MYH11): c.3845G> T (p.Arg1282Leu) single nucleotide variant Uncertain significance rs267606901 GRCh37 Chromosome 16, 15820739: 15820739
6 MYH11 NM_001040113.1(MYH11): c.3845G> T (p.Arg1282Leu) single nucleotide variant Uncertain significance rs267606901 GRCh38 Chromosome 16, 15726882: 15726882
7 MYH11 NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs267606902 GRCh37 Chromosome 16, 15841949: 15841949
8 MYH11 NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs267606902 GRCh38 Chromosome 16, 15748092: 15748092
9 MYH11 NM_002474.2(MYH11): c.2412-9C> A single nucleotide variant Benign/Likely benign rs148682361 GRCh37 Chromosome 16, 15839103: 15839103
10 MYH11 NM_002474.2(MYH11): c.2412-9C> A single nucleotide variant Benign/Likely benign rs148682361 GRCh38 Chromosome 16, 15745246: 15745246
11 MYH11 NM_001040114.1(MYH11): c.3254T> C (p.Ile1085Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922629 GRCh37 Chromosome 16, 15831366: 15831366
12 MYH11 NM_001040114.1(MYH11): c.3254T> C (p.Ile1085Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922629 GRCh38 Chromosome 16, 15737509: 15737509
13 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh37 Chromosome 16, 15820917: 15820917
14 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh38 Chromosome 16, 15727060: 15727060
15 MYH11 NM_002474.2(MYH11): c.3816G> A (p.Glu1272=) single nucleotide variant Benign/Likely benign rs112990531 GRCh37 Chromosome 16, 15820747: 15820747
16 MYH11 NM_002474.2(MYH11): c.3816G> A (p.Glu1272=) single nucleotide variant Benign/Likely benign rs112990531 GRCh38 Chromosome 16, 15726890: 15726890
17 MYH11; NDE1 NM_002474.2(MYH11): c.4770G> A (p.Lys1590=) single nucleotide variant Benign/Likely benign rs11648119 GRCh37 Chromosome 16, 15814717: 15814717
18 MYH11; NDE1 NM_002474.2(MYH11): c.4770G> A (p.Lys1590=) single nucleotide variant Benign/Likely benign rs11648119 GRCh38 Chromosome 16, 15720860: 15720860
19 MYH11 NM_002474.2(MYH11): c.4861A> C (p.Lys1621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34321232 GRCh37 Chromosome 16, 15814100: 15814100
20 MYH11 NM_002474.2(MYH11): c.4861A> C (p.Lys1621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34321232 GRCh38 Chromosome 16, 15720243: 15720243
21 MYH11 MYH11: c.503-14_503-12del deletion Benign/Likely benign rs141564071 GRCh37 Chromosome 16, 15892556: 15892558
22 MYH11 MYH11: c.503-14_503-12del deletion Benign/Likely benign rs141564071 GRCh38 Chromosome 16, 15798699: 15798701
23 MYH11; NDE1 NM_002474.2(MYH11): c.5172-14C> T single nucleotide variant Benign/Likely benign rs34839877 GRCh37 Chromosome 16, 15812309: 15812309
24 MYH11; NDE1 NM_002474.2(MYH11): c.5172-14C> T single nucleotide variant Benign/Likely benign rs34839877 GRCh38 Chromosome 16, 15718452: 15718452
25 MYH11 NM_001040113.1(MYH11): c.4599+1G> T single nucleotide variant Likely pathogenic rs397514037 GRCh37 Chromosome 16, 15815278: 15815278
26 MYH11 NM_001040113.1(MYH11): c.4599+1G> T single nucleotide variant Likely pathogenic rs397514037 GRCh38 Chromosome 16, 15721421: 15721421
27 MYH11 NM_002474.2(MYH11): c.3791T> C (p.Leu1264Pro) single nucleotide variant Pathogenic rs201831933 GRCh38 Chromosome 16, 15726915: 15726915
28 MYH11 NM_002474.2(MYH11): c.3791T> C (p.Leu1264Pro) single nucleotide variant Pathogenic rs201831933 GRCh37 Chromosome 16, 15820772: 15820772
29 MYH11 NM_002474.2(MYH11): c.2079C> T (p.Phe693=) single nucleotide variant Benign/Likely benign rs34287137 GRCh38 Chromosome 16, 15748148: 15748148
30 MYH11 NM_002474.2(MYH11): c.2079C> T (p.Phe693=) single nucleotide variant Benign/Likely benign rs34287137 GRCh37 Chromosome 16, 15842005: 15842005
31 MYH11 NM_002474.2(MYH11): c.2520+17A> G single nucleotide variant Benign/Likely benign rs185697714 GRCh38 Chromosome 16, 15745112: 15745112
32 MYH11 NM_002474.2(MYH11): c.2520+17A> G single nucleotide variant Benign/Likely benign rs185697714 GRCh37 Chromosome 16, 15838969: 15838969
33 MYH11 NM_002474.2(MYH11): c.2961C> T (p.Ile987=) single nucleotide variant Conflicting interpretations of pathogenicity rs137988790 GRCh38 Chromosome 16, 15740087: 15740087
34 MYH11 NM_002474.2(MYH11): c.2961C> T (p.Ile987=) single nucleotide variant Conflicting interpretations of pathogenicity rs137988790 GRCh37 Chromosome 16, 15833944: 15833944
35 MYH11 NM_002474.2(MYH11): c.3310G> A (p.Ala1104Thr) single nucleotide variant Benign/Likely benign rs34263860 GRCh38 Chromosome 16, 15735562: 15735562
36 MYH11 NM_002474.2(MYH11): c.3310G> A (p.Ala1104Thr) single nucleotide variant Benign/Likely benign rs34263860 GRCh37 Chromosome 16, 15829419: 15829419
37 MYH11 NM_002474.2(MYH11): c.3828G> A (p.Ala1276=) single nucleotide variant Conflicting interpretations of pathogenicity rs113154524 GRCh38 Chromosome 16, 15726878: 15726878
38 MYH11 NM_002474.2(MYH11): c.3828G> A (p.Ala1276=) single nucleotide variant Conflicting interpretations of pathogenicity rs113154524 GRCh37 Chromosome 16, 15820735: 15820735
39 MYH11; NDE1 NM_002474.2(MYH11): c.3866T> C (p.Val1289Ala) single nucleotide variant Benign/Likely benign rs16967510 GRCh38 Chromosome 16, 15724985: 15724985
40 MYH11; NDE1 NM_002474.2(MYH11): c.3866T> C (p.Val1289Ala) single nucleotide variant Benign/Likely benign rs16967510 GRCh37 Chromosome 16, 15818842: 15818842
41 MYH11; NDE1 NM_001040113.1(MYH11): c.3988C> T (p.Leu1330=) single nucleotide variant Benign/Likely benign rs12907 GRCh38 Chromosome 16, 15724796: 15724796
42 MYH11; NDE1 NM_001040113.1(MYH11): c.3988C> T (p.Leu1330=) single nucleotide variant Benign/Likely benign rs12907 GRCh37 Chromosome 16, 15818653: 15818653
43 MYH11; NDE1 NM_002474.2(MYH11): c.4095C> T (p.His1365=) single nucleotide variant Conflicting interpretations of pathogenicity rs374454281 GRCh38 Chromosome 16, 15724668: 15724668
44 MYH11; NDE1 NM_002474.2(MYH11): c.4095C> T (p.His1365=) single nucleotide variant Conflicting interpretations of pathogenicity rs374454281 GRCh37 Chromosome 16, 15818525: 15818525
45 MYH11 NM_002474.2(MYH11): c.4158C> T (p.Thr1386=) single nucleotide variant Benign rs112377790 GRCh38 Chromosome 16, 15724368: 15724368
46 MYH11 NM_002474.2(MYH11): c.4158C> T (p.Thr1386=) single nucleotide variant Benign rs112377790 GRCh37 Chromosome 16, 15818225: 15818225
47 MYH11; NDE1 NM_002474.2(MYH11): c.4242T> G (p.Ala1414=) single nucleotide variant Benign/Likely benign rs2075511 GRCh38 Chromosome 16, 15724284: 15724284
48 MYH11; NDE1 NM_002474.2(MYH11): c.4242T> G (p.Ala1414=) single nucleotide variant Benign/Likely benign rs2075511 GRCh37 Chromosome 16, 15818141: 15818141
49 MYH11; NDE1 NM_001040113.1(MYH11): c.4422C> T (p.Tyr1474=) single nucleotide variant Benign/Likely benign rs8046180 GRCh38 Chromosome 16, 15721599: 15721599
50 MYH11; NDE1 NM_001040113.1(MYH11): c.4422C> T (p.Tyr1474=) single nucleotide variant Benign/Likely benign rs8046180 GRCh37 Chromosome 16, 15815456: 15815456

Expression for Aortic Aneurysm, Familial Thoracic 4

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 4.

Pathways for Aortic Aneurysm, Familial Thoracic 4

Pathways related to Aortic Aneurysm, Familial Thoracic 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 MYH11 NDE1

GO Terms for Aortic Aneurysm, Familial Thoracic 4

Sources for Aortic Aneurysm, Familial Thoracic 4

3 CDC
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10 dbSNP
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