MCID: ART028
MIFTS: 27

Aortic Aneurysm, Familial Thoracic 4

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 4

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 4:

Name: Aortic Aneurysm, Familial Thoracic 4 57 53 75 29 13 6 73
Aortic Aneurysm/aortic Dissection and Patent Ductus Arteriosus 57 53 75
Aat4 57 53 75
Faa4 57 53 75
Non-Syndromic Thoracic Aortic Aneurysms and Dissection 75
Aneurysm, Aortic, Thoracic, Familial, Type 4 40
Thoracic Aortic Aneurysms and Dissection 75
Aneurysms, Aortic, Thoracic, Dissections 40
Thoracic Aortic Aneurysm and Dissection 6
Familial Aortic Aneurysm 4 75
Taad 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
aortic aneurysm, familial thoracic 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 4

UniProtKB/Swiss-Prot : 75 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 1 and aneurysm. An important gene associated with Aortic Aneurysm, Familial Thoracic 4 is MYH11 (Myosin Heavy Chain 11). Affiliated tissues include smooth muscle, and related phenotypes are patent ductus arteriosus and bicuspid aortic valve

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
aortic valve regurgitation
left ventricular failure

Neurologic Central Nervous System:
stroke (in some patients)

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

Clinical features from OMIM:

132900

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 4:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 32 HP:0001643
2 bicuspid aortic valve 32 HP:0001647
3 ascending aortic dissection 32 occasional (7.5%) HP:0004933
4 stroke 32 occasional (7.5%) HP:0001297
5 aortic regurgitation 32 HP:0001659
6 aortic aneurysm 32 HP:0004942
7 left ventricular failure 32 HP:0005162
8 abnormal iris pigmentation 32 HP:0008034
9 coronary artery atherosclerosis 32 very rare (1%) HP:0001677
10 cystic medial necrosis 32 HP:0012180

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 29 MYH11

Anatomical Context for Aortic Aneurysm, Familial Thoracic 4

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

41
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:

75
# 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 826)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH11 NM_001040113.1(MYH11): c.3743_3814del72 (p.Arg1248_Leu1271del) deletion Pathogenic GRCh37 Chromosome 16, 15820770: 15820841
2 MYH11 NM_001040113.1(MYH11): c.3743_3814del72 (p.Arg1248_Leu1271del) deletion Pathogenic GRCh38 Chromosome 16, 15726913: 15726984
3 MYH11 NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Pathogenic rs267606902 GRCh37 Chromosome 16, 15841949: 15841949
4 MYH11 NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Pathogenic rs267606902 GRCh38 Chromosome 16, 15748092: 15748092
5 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh37 Chromosome 15, 48729223: 48729223
6 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh38 Chromosome 15, 48437026: 48437026
7 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh37 Chromosome 15, 48703477: 48703477
8 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh38 Chromosome 15, 48411280: 48411280
9 FBN1 NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter) single nucleotide variant Pathogenic rs137854476 GRCh37 Chromosome 15, 48805749: 48805749
10 FBN1 NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter) single nucleotide variant Pathogenic rs137854476 GRCh38 Chromosome 15, 48513552: 48513552
11 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
12 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
13 FBN1 NM_000138.4(FBN1): c.3095G> A (p.Cys1032Tyr) single nucleotide variant Pathogenic rs137854481 GRCh37 Chromosome 15, 48780678: 48780678
14 FBN1 NM_000138.4(FBN1): c.3095G> A (p.Cys1032Tyr) single nucleotide variant Pathogenic rs137854481 GRCh38 Chromosome 15, 48488481: 48488481
15 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
16 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh38 Chromosome 15, 48505037: 48505037
17 FBN1 NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp) single nucleotide variant Pathogenic rs140603 GRCh37 Chromosome 15, 48796042: 48796042
18 FBN1 NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp) single nucleotide variant Pathogenic rs140603 GRCh38 Chromosome 15, 48503845: 48503845
19 FBN1 NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs) deletion Pathogenic/Likely pathogenic rs193922198 GRCh37 Chromosome 15, 48780580: 48780580
20 FBN1 NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs) deletion Pathogenic/Likely pathogenic rs193922198 GRCh38 Chromosome 15, 48488383: 48488383
21 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh37 Chromosome 15, 48760739: 48760739
22 FBN1 NM_000138.4(FBN1): c.4460-8G> A single nucleotide variant Pathogenic/Likely pathogenic rs193922204 GRCh38 Chromosome 15, 48468542: 48468542
23 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
24 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
25 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
26 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
27 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
28 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
29 FBN1 NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys) single nucleotide variant Pathogenic rs147195031 GRCh37 Chromosome 15, 48712977: 48712977
30 FBN1 NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys) single nucleotide variant Pathogenic rs147195031 GRCh38 Chromosome 15, 48420780: 48420780
31 FBN1 NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys) single nucleotide variant Pathogenic rs397514558 GRCh37 Chromosome 15, 48782210: 48782210
32 FBN1 NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys) single nucleotide variant Pathogenic rs397514558 GRCh38 Chromosome 15, 48490013: 48490013
33 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
34 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
35 FBN1 NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter) single nucleotide variant Pathogenic rs113812345 GRCh37 Chromosome 15, 48805788: 48805788
36 FBN1 NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter) single nucleotide variant Pathogenic rs113812345 GRCh38 Chromosome 15, 48513591: 48513591
37 FBN1 NM_000138.4(FBN1): c.247+1G> A single nucleotide variant Pathogenic rs25404 GRCh37 Chromosome 15, 48905206: 48905206
38 FBN1 NM_000138.4(FBN1): c.247+1G> A single nucleotide variant Pathogenic rs25404 GRCh38 Chromosome 15, 48613009: 48613009
39 FBN1 NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr) single nucleotide variant Pathogenic rs397515786 GRCh37 Chromosome 15, 48780609: 48780609
40 FBN1 NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr) single nucleotide variant Pathogenic rs397515786 GRCh38 Chromosome 15, 48488412: 48488412
41 FBN1 NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397515804 GRCh37 Chromosome 15, 48764825: 48764825
42 FBN1 NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397515804 GRCh38 Chromosome 15, 48472628: 48472628
43 FBN1 NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397515810 GRCh37 Chromosome 15, 48760686: 48760686
44 FBN1 NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397515810 GRCh38 Chromosome 15, 48468489: 48468489
45 FBN1 NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515812 GRCh37 Chromosome 15, 48760624: 48760624
46 FBN1 NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515812 GRCh38 Chromosome 15, 48468427: 48468427
47 FBN1 NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter) single nucleotide variant Pathogenic rs111231312 GRCh37 Chromosome 15, 48760267: 48760267
48 FBN1 NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter) single nucleotide variant Pathogenic rs111231312 GRCh38 Chromosome 15, 48468070: 48468070
49 FBN1 NM_000138.4(FBN1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs111687884 GRCh37 Chromosome 15, 48829901: 48829901
50 FBN1 NM_000138.4(FBN1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs111687884 GRCh38 Chromosome 15, 48537704: 48537704

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

GO Terms for Aortic Aneurysm, Familial Thoracic 4

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.62 MYH11 NDE1

Sources for Aortic Aneurysm, Familial Thoracic 4

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