AAT4
MCID: ART028
MIFTS: 27

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 familial thoracic aortic aneurysm and dissection and loeys-dietz syndrome 2. 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 abnormal iris pigmentation 33 HP:0008034
9 left ventricular dysfunction 33 HP:0005162
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:
left ventricular failure
aortic valve regurgitation

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
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. ( 16444274 )
2006

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 741)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH11 NM_001040113.1(MYH11): c.4963C> T (p.Arg1655Cys) single nucleotide variant Uncertain significance rs369409348 GRCh37 Chromosome 16, 15814019: 15814019
2 MYH11 NM_001040113.1(MYH11): c.4963C> T (p.Arg1655Cys) single nucleotide variant Uncertain significance rs369409348 GRCh38 Chromosome 16, 15720162: 15720162
3 MYH11 NM_001040113.1(MYH11): c.2026C> T (p.Arg676Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111404182 GRCh37 Chromosome 16, 15844048: 15844048
4 MYH11 NM_001040113.1(MYH11): c.2026C> T (p.Arg676Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111404182 GRCh38 Chromosome 16, 15750191: 15750191
5 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh37 Chromosome 16, 15872688: 15872688
6 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh38 Chromosome 16, 15778831: 15778831
7 MYH11 NM_001040114.1(MYH11): c.4694C> T (p.Thr1565Met) single nucleotide variant Benign/Likely benign rs111854563 GRCh38 Chromosome 16, 15720957: 15720957
8 MYH11 NM_001040114.1(MYH11): c.4694C> T (p.Thr1565Met) single nucleotide variant Benign/Likely benign rs111854563 GRCh37 Chromosome 16, 15814814: 15814814
9 MYH11 NM_001040113.1(MYH11): c.4625G> A (p.Arg1542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137934837 GRCh37 Chromosome 16, 15814883: 15814883
10 MYH11 NM_001040113.1(MYH11): c.4625G> A (p.Arg1542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137934837 GRCh38 Chromosome 16, 15721026: 15721026
11 MYH11 NM_001040114.1(MYH11): c.3787_3789delAAG (p.Lys1263del) deletion Uncertain significance rs730880147 GRCh38 Chromosome 16, 15726938: 15726940
12 MYH11 NM_001040114.1(MYH11): c.3787_3789delAAG (p.Lys1263del) deletion Uncertain significance rs730880147 GRCh37 Chromosome 16, 15820795: 15820797
13 MYH11 NM_001040113.1(MYH11): c.2517G> C (p.Trp839Cys) single nucleotide variant Uncertain significance rs369196744 GRCh38 Chromosome 16, 15745153: 15745153
14 MYH11 NM_001040113.1(MYH11): c.2517G> C (p.Trp839Cys) single nucleotide variant Uncertain significance rs369196744 GRCh37 Chromosome 16, 15839010: 15839010
15 MYH11 NM_002474.2(MYH11): c.3651+5T> G single nucleotide variant Uncertain significance rs794727439 GRCh37 Chromosome 16, 15826416: 15826416
16 MYH11 NM_002474.2(MYH11): c.3651+5T> G single nucleotide variant Uncertain significance rs794727439 GRCh38 Chromosome 16, 15732559: 15732559
17 MYH11; NDE1 NM_002474.2(MYH11): c.5529G> A (p.Ser1843=) single nucleotide variant Conflicting interpretations of pathogenicity rs146024732 GRCh37 Chromosome 16, 15809105: 15809105
18 MYH11; NDE1 NM_002474.2(MYH11): c.5529G> A (p.Ser1843=) single nucleotide variant Conflicting interpretations of pathogenicity rs146024732 GRCh38 Chromosome 16, 15715248: 15715248
19 MYH11; NDE1 NM_002474.2(MYH11): c.5516C> T (p.Ala1839Val) single nucleotide variant Conflicting interpretations of pathogenicity rs112948385 GRCh37 Chromosome 16, 15809118: 15809118
20 MYH11; NDE1 NM_002474.2(MYH11): c.5516C> T (p.Ala1839Val) single nucleotide variant Conflicting interpretations of pathogenicity rs112948385 GRCh38 Chromosome 16, 15715261: 15715261
21 MYH11 NM_002474.2(MYH11): c.1017C> T (p.Ser339=) single nucleotide variant Conflicting interpretations of pathogenicity rs112161189 GRCh37 Chromosome 16, 15865442: 15865442
22 MYH11 NM_002474.2(MYH11): c.1017C> T (p.Ser339=) single nucleotide variant Conflicting interpretations of pathogenicity rs112161189 GRCh38 Chromosome 16, 15771585: 15771585
23 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh37 Chromosome 16, 15797967: 15797967
24 MYH11; NDE1 NM_002474.2(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 GRCh38 Chromosome 16, 15704110: 15704110
25 MYH11 NM_002474.2(MYH11): c.5787-4707C> G single nucleotide variant Likely benign rs111588143 GRCh38 Chromosome 16, 15708830: 15708830
26 MYH11 NM_002474.2(MYH11): c.5787-4707C> G single nucleotide variant Likely benign rs111588143 GRCh37 Chromosome 16, 15802687: 15802687
27 MYH11 NM_001040113.1(MYH11): c.5819C> A (p.Pro1940Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs111588143 GRCh38 Chromosome 16, 15708830: 15708830
28 MYH11 NM_001040113.1(MYH11): c.5819C> A (p.Pro1940Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs111588143 GRCh37 Chromosome 16, 15802687: 15802687
29 MYH11 NM_022844.2(MYH11): c.5787-11_5787-8delCTCT deletion Benign/Likely benign rs747642850 GRCh38 Chromosome 16, 15708849: 15708852
30 MYH11 NM_022844.2(MYH11): c.5787-11_5787-8delCTCT deletion Benign/Likely benign rs747642850 GRCh37 Chromosome 16, 15802706: 15802709
31 MYH11; NDE1 NM_002474.2(MYH11): c.5585G> A (p.Arg1862His) single nucleotide variant Conflicting interpretations of pathogenicity rs146228576 GRCh37 Chromosome 16, 15809049: 15809049
32 MYH11; NDE1 NM_002474.2(MYH11): c.5585G> A (p.Arg1862His) single nucleotide variant Conflicting interpretations of pathogenicity rs146228576 GRCh38 Chromosome 16, 15715192: 15715192
33 MYH11 NM_002474.2(MYH11): c.5499G> C (p.Glu1833Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145252402 GRCh38 Chromosome 16, 15717145: 15717145
34 MYH11 NM_002474.2(MYH11): c.5499G> C (p.Glu1833Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145252402 GRCh37 Chromosome 16, 15811002: 15811002
35 MYH11 NM_002474.2(MYH11): c.5422G> A (p.Val1808Ile) single nucleotide variant Uncertain significance rs780870767 GRCh38 Chromosome 16, 15717222: 15717222
36 MYH11 NM_002474.2(MYH11): c.5422G> A (p.Val1808Ile) single nucleotide variant Uncertain significance rs780870767 GRCh37 Chromosome 16, 15811079: 15811079
37 MYH11 NM_002474.2(MYH11): c.5313C> T (p.Asn1771=) single nucleotide variant Benign/Likely benign rs190675029 GRCh37 Chromosome 16, 15811188: 15811188
38 MYH11 NM_002474.2(MYH11): c.5313C> T (p.Asn1771=) single nucleotide variant Benign/Likely benign rs190675029 GRCh38 Chromosome 16, 15717331: 15717331
39 MYH11; NDE1 NM_002474.2(MYH11): c.5275G> A (p.Val1759Ile) single nucleotide variant Uncertain significance rs138059405 GRCh37 Chromosome 16, 15812192: 15812192
40 MYH11; NDE1 NM_002474.2(MYH11): c.5275G> A (p.Val1759Ile) single nucleotide variant Uncertain significance rs138059405 GRCh38 Chromosome 16, 15718335: 15718335
41 MYH11 NM_002474.2(MYH11): c.5269G> A (p.Asp1757Asn) single nucleotide variant Uncertain significance rs752996609 GRCh37 Chromosome 16, 15812198: 15812198
42 MYH11 NM_002474.2(MYH11): c.5269G> A (p.Asp1757Asn) single nucleotide variant Uncertain significance rs752996609 GRCh38 Chromosome 16, 15718341: 15718341
43 MYH11 NM_002474.2(MYH11): c.4994G> T (p.Arg1665Leu) single nucleotide variant Uncertain significance rs144813247 GRCh37 Chromosome 16, 15813530: 15813530
44 MYH11 NM_002474.2(MYH11): c.4994G> T (p.Arg1665Leu) single nucleotide variant Uncertain significance rs144813247 GRCh38 Chromosome 16, 15719673: 15719673
45 MYH11 NM_002474.2(MYH11): c.4756C> G (p.Gln1586Glu) single nucleotide variant Uncertain significance rs794728680 GRCh38 Chromosome 16, 15720874: 15720874
46 MYH11 NM_002474.2(MYH11): c.4756C> G (p.Gln1586Glu) single nucleotide variant Uncertain significance rs794728680 GRCh37 Chromosome 16, 15814731: 15814731
47 MYH11 NM_002474.2(MYH11): c.4735G> A (p.Asp1579Asn) single nucleotide variant Uncertain significance rs369751362 GRCh38 Chromosome 16, 15720895: 15720895
48 MYH11 NM_002474.2(MYH11): c.4735G> A (p.Asp1579Asn) single nucleotide variant Uncertain significance rs369751362 GRCh37 Chromosome 16, 15814752: 15814752
49 MYH11 NM_002474.2(MYH11): c.4240G> A (p.Ala1414Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112467954 GRCh38 Chromosome 16, 15724286: 15724286
50 MYH11 NM_002474.2(MYH11): c.4240G> A (p.Ala1414Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112467954 GRCh37 Chromosome 16, 15818143: 15818143

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

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