AAT4
MCID: ART028
MIFTS: 38

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 57 53 74 29 13 6 72
Aortic Aneurysm/aortic Dissection and Patent Ductus Arteriosus 57 53 74
Aat4 57 53 74
Faa4 57 53 74
Non-Syndromic Thoracic Aortic Aneurysms and Dissection 74
Aneurysm, Aortic, Thoracic, Familial, Type 4 40
Thoracic Aortic Aneurysms and Dissection 74
Aneurysms, Aortic, Thoracic, Dissections 40
Familial Aortic Aneurysm 4 74
Taad 74

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:



External Ids:

MeSH 44 D017545
MedGen 42 C1851504
UMLS 72 C1851504

Summaries for Aortic Aneurysm, Familial Thoracic 4

UniProtKB/Swiss-Prot : 74 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. The drugs Lidocaine and Cefazolin have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, and related phenotypes are ascending aortic dissection and stroke

More information from OMIM: 132900 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 4

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4 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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 29.0 NDE1 MYH11
2 familial thoracic aortic aneurysm and dissection 12.3
3 loeys-dietz syndrome 2 12.0
4 vascular disease 10.5
5 char syndrome 10.4
6 aortic aneurysm, familial thoracic 1 10.4
7 patent ductus arteriosus 1 10.4
8 loeys-dietz syndrome 10.4
9 aortic aneurysm 10.4
10 heritable thoracic aortic disease 10.4
11 aortic valve disease 1 10.4
12 marfan syndrome 10.3
13 cardiac arrest 10.3
14 aneurysm 10.3
15 aortic aneurysm, familial abdominal, 1 10.3
16 hypertelorism 10.2
17 loeys-dietz syndrome 1 10.2
18 loeys-dietz syndrome 3 10.2
19 aortic aneurysm, familial thoracic 10 10.2
20 aortic disease 10.1
21 moyamoya disease 1 10.1
22 ehlers-danlos syndrome 10.1
23 acute kidney failure 10.1
24 cleft palate, isolated 10.0
25 migraine with or without aura 1 10.0
26 shprintzen-goldberg craniosynostosis syndrome 10.0
27 arterial tortuosity syndrome 10.0
28 asplenia, isolated congenital 10.0
29 meester-loeys syndrome 10.0
30 dental anomalies and short stature 10.0
31 pulmonary disease, chronic obstructive 10.0
32 aortic aneurysm, familial thoracic 2 10.0
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
34 moyamoya disease 5 10.0
35 loeys-dietz syndrome 4 10.0
36 aortic aneurysm, familial thoracic 8 10.0
37 alacrima, achalasia, and mental retardation syndrome 10.0
38 immunodeficiency, common variable, 10 10.0
39 aortic aneurysm, familial thoracic 9 10.0
40 aortic aneurysm, familial thoracic 11 10.0
41 periventricular nodular heterotopia 10.0
42 inguinal hernia 10.0
43 isolated ectopia lentis 10.0
44 cardiac tamponade 10.0
45 hereditary hemorrhagic telangiectasia 10.0
46 telangiectasis 10.0
47 craniosynostosis 10.0
48 lipid metabolism disorder 10.0
49 paraplegia 10.0
50 mitral valve disease 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Aortic Aneurysm, Familial Thoracic 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
2
Cefazolin Approved Phase 2, Phase 3 25953-19-9 656510 33255
3
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
4
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
5
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
6 Anesthetics Phase 2, Phase 3
7 Central Nervous System Depressants Phase 2, Phase 3
8 Antitubercular Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Epinephryl borate Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Anti-Bacterial Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tumescent Anesthesia Antibiotic Delivery (TAAD) and SubQKath for Prevention of Surgical Site Infection, Thrombosis and Sepsis Not yet recruiting NCT03226626 Phase 2, Phase 3 Tumescent Anesthesia and antibiotic delivery (TAAD) plus IVAD
2 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603
3 Superiority Trial of Type b Aortic Dissection Treatment Combined With Implantation of Bare Metal Stent in Abdominal Part of Aorta Versus Conventional Type b Treatment Enrolling by invitation NCT02726841

Search 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:

(show all 15)
# Title Authors PMID Year
1
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 8 71
17666408 2007
2
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 8 71
16444274 2006
3
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 8 71
14722581 2004
4
Aortic dissection and patent ductus arteriosus in three generations. 8 71
11249915 2001
5
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. 71
27854360 2017
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
7
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). 71
25173340 2014
8
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 71
24882528 2014
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
10
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. 8
15998682 2005
11
Heritable Thoracic Aortic Disease Overview 71
20301299 2003
12
Biochemical and catalytic properties of three recombinant alcohol acyltransferases of melon. sulfur-containing ester formation, regulatory role of CoA-SH in activity, and sequence elements conferring substrate preference. 38
17542607 2007
13
Functional characterization of a melon alcohol acyl-transferase gene family involved in the biosynthesis of ester volatiles. Identification of the crucial role of a threonine residue for enzyme activity*. 38
16247561 2005
14
Characterization of a soybean cDNA clone encoding the mitochondrial isozyme of aspartate aminotransferase, AAT4. 38
7766891 1995
15
Isolation and characterization of a soybean cDNA clone encoding the plastid form of aspartate aminotransferase. 38
7683917 1993

Variations for Aortic Aneurysm, Familial Thoracic 4

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

6 (show top 50) (show all 420)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH11 NM_002474.3(MYH11): c.4578+1G> A single nucleotide variant Pathogenic rs397514037 16:15815278-15815278 16:15721421-15721421
2 MYH11 NM_002474.3(MYH11): c.3722_3793del (p.Arg1241_Leu1264del) deletion Pathogenic rs1555554098 16:15820770-15820841 16:15726913-15726984
3 MYH11 NM_002474.3(MYH11): c.3791T> C (p.Leu1264Pro) single nucleotide variant Pathogenic rs201831933 16:15820772-15820772 16:15726915-15726915
4 MYH11 NM_002474.3(MYH11): c.3422_3470del (p.Lys1141fs) deletion Pathogenic rs797045725 16:15829259-15829307 16:15735402-15735450
5 MYH11 NM_002474.3(MYH11): c.2809_2810del (p.Arg937fs) deletion Pathogenic rs749497185 16:15835369-15835370 16:15741512-15741513
6 MYH11 NM_002474.3(MYH11): c.5027_5028del (p.Lys1676fs) deletion Pathogenic 16:15813496-15813497 16:15719639-15719640
7 MYH11 NM_002474.3(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606902 16:15841949-15841949 16:15748092-15748092
8 MYH11 NM_002474.3(MYH11): c.4578+1G> T single nucleotide variant Likely pathogenic rs397514037 16:15815278-15815278 16:15721421-15721421
9 MYH11 NM_002474.3(MYH11): c.2961C> T (p.Ile987=) single nucleotide variant Conflicting interpretations of pathogenicity rs137988790 16:15833944-15833944 16:15740087-15740087
10 MYH11 NM_002474.3(MYH11): c.3828G> A (p.Ala1276=) single nucleotide variant Conflicting interpretations of pathogenicity rs113154524 16:15820735-15820735 16:15726878-15726878
11 MYH11 ; NDE1 NM_002474.3(MYH11): c.4095C> T (p.His1365=) single nucleotide variant Conflicting interpretations of pathogenicity rs374454281 16:15818525-15818525 16:15724668-15724668
12 MYH11 NM_002474.3(MYH11): c.4578+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs143288748 16:15815276-15815276 16:15721419-15721419
13 MYH11 ; NDE1 NM_002474.3(MYH11): c.5566C> T (p.Leu1856=) single nucleotide variant Conflicting interpretations of pathogenicity rs142639688 16:15809068-15809068 16:15715211-15715211
14 MYH11 ; NDE1 NM_002474.3(MYH11): c.5757C> T (p.Arg1919=) single nucleotide variant Conflicting interpretations of pathogenicity rs138168272 16:15808795-15808795 16:15714938-15714938
15 MYH11 NM_002474.3(MYH11): c.291C> T (p.Asn97=) single nucleotide variant Conflicting interpretations of pathogenicity rs113363750 16:15931819-15931819 16:15837962-15837962
16 MYH11 NM_002474.3(MYH11): c.3874G> A (p.Val1292Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151058774 16:15818834-15818834 16:15724977-15724977
17 MYH11 NM_002474.3(MYH11): c.1502G> A (p.Arg501His) single nucleotide variant Conflicting interpretations of pathogenicity rs144244239 16:15851757-15851757 16:15757900-15757900
18 MYH11 NM_002474.3(MYH11): c.988G> A (p.Val330Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368938309 16:15865471-15865471 16:15771614-15771614
19 MYH11 NM_002474.3(MYH11): c.914A> G (p.Asn305Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs185661462 16:15865545-15865545 16:15771688-15771688
20 MYH11 NM_002474.3(MYH11): c.1732A> G (p.Ile578Val) single nucleotide variant Conflicting interpretations of pathogenicity rs111936548 16:15850215-15850215 16:15756358-15756358
21 MYH11 NM_002474.3(MYH11): c.453G> A (p.Pro151=) single nucleotide variant Conflicting interpretations of pathogenicity rs61734199 16:15917161-15917161 16:15823304-15823304
22 MYH11 NM_002474.3(MYH11): c.217A> C (p.Lys73Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147447269 16:15931893-15931893 16:15838036-15838036
23 MYH11 NM_002474.3(MYH11): c.3651+6_3651+11del deletion Conflicting interpretations of pathogenicity rs371843272 16:15826410-15826415 16:15732553-15732558
24 MYH11 NM_002474.3(MYH11): c.3651+5_3651+11delinsG indel Conflicting interpretations of pathogenicity rs371843272 16:15826410-15826416 16:15732553-15732559
25 MYH11 ; NDE1 NM_002474.3(MYH11): c.3928G> A (p.Val1310Met) single nucleotide variant Conflicting interpretations of pathogenicity rs7196804 16:15818780-15818780 16:15724923-15724923
26 MYH11 NM_002474.3(MYH11): c.3562C> T (p.Arg1188Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146388001 16:15826510-15826510 16:15732653-15732653
27 MYH11 NM_002474.3(MYH11): c.3291C> T (p.Ala1097=) single nucleotide variant Conflicting interpretations of pathogenicity rs147605116 16:15831308-15831308 16:15737451-15737451
28 MYH11 NM_002474.3(MYH11): c.3125G> A (p.Arg1042Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs771297865 16:15831474-15831474 16:15737617-15737617
29 MYH11 NM_002474.3(MYH11): c.3031T> C (p.Leu1011=) single nucleotide variant Conflicting interpretations of pathogenicity rs112861184 16:15832512-15832512 16:15738655-15738655
30 MYH11 NM_002474.3(MYH11): c.2893G> T (p.Ala965Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113696032 16:15834012-15834012 16:15740155-15740155
31 MYH11 NM_002474.3(MYH11): c.2648C> T (p.Ser883Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35035518 16:15835621-15835621 16:15741764-15741764
32 MYH11 NM_002474.3(MYH11): c.1212G> C (p.Gly404=) single nucleotide variant Conflicting interpretations of pathogenicity rs201198815 16:15854433-15854433 16:15760576-15760576
33 MYH11 NM_002474.3(MYH11): c.1419G> A (p.Gln473=) single nucleotide variant Conflicting interpretations of pathogenicity rs61734198 16:15851840-15851840 16:15757983-15757983
34 MYH11 NM_002474.3(MYH11): c.5336C> T (p.Thr1779Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201960644 16:15811165-15811165 16:15717308-15717308
35 MYH11 NM_002474.3(MYH11): c.4604G> A (p.Arg1535Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137934837 16:15814883-15814883 16:15721026-15721026
36 MYH11 NM_002474.3(MYH11): c.3757_3759AAG[3] (p.Lys1256del) short repeat Conflicting interpretations of pathogenicity rs730880147 16:15820795-15820797 16:15726938-15726940
37 MYH11 ; NDE1 NM_002474.3(MYH11): c.5529G> A (p.Ser1843=) single nucleotide variant Conflicting interpretations of pathogenicity rs146024732 16:15809105-15809105 16:15715248-15715248
38 MYH11 ; NDE1 NM_002474.3(MYH11): c.5516C> T (p.Ala1839Val) single nucleotide variant Conflicting interpretations of pathogenicity rs112948385 16:15809118-15809118 16:15715261-15715261
39 MYH11 NM_002474.3(MYH11): c.1017C> T (p.Ser339=) single nucleotide variant Conflicting interpretations of pathogenicity rs112161189 16:15865442-15865442 16:15771585-15771585
40 MYH11 NM_002474.3(MYH11): c.2005C> T (p.Arg669Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111404182 16:15844048-15844048 16:15750191-15750191
41 MYH11 NM_002474.3(MYH11): c.739C> T (p.Arg247Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 16:15872688-15872688 16:15778831-15778831
42 MYH11 ; NDE1 NM_002474.3(MYH11): c.5800A> T (p.Thr1934Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113667224 16:15797967-15797967 16:15704110-15704110
43 MYH11 NM_001040113.2(MYH11): c.5819C> A (p.Pro1940Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs111588143 16:15802687-15802687 16:15708830-15708830
44 MYH11 ; NDE1 NM_002474.3(MYH11): c.5585G> A (p.Arg1862His) single nucleotide variant Conflicting interpretations of pathogenicity rs146228576 16:15809049-15809049 16:15715192-15715192
45 MYH11 NM_002474.3(MYH11): c.5499G> C (p.Glu1833Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145252402 16:15811002-15811002 16:15717145-15717145
46 MYH11 ; NDE1 NM_002474.3(MYH11): c.5275G> A (p.Val1759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138059405 16:15812192-15812192 16:15718335-15718335
47 MYH11 NM_002474.3(MYH11): c.4240G> A (p.Ala1414Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112467954 16:15818143-15818143 16:15724286-15724286
48 MYH11 NM_002474.3(MYH11): c.3973C> G (p.Gln1325Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs150033906 16:15818647-15818647 16:15724790-15724790
49 MYH11 ; NDE1 NM_002474.3(MYH11): c.3949C> A (p.Leu1317Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141159831 16:15818759-15818759 16:15724902-15724902
50 MYH11 NM_002474.3(MYH11): c.5732C> T (p.Thr1911Met) single nucleotide variant Conflicting interpretations of pathogenicity rs748516947 16:15808820-15808820 16:15714963-15714963

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

74
# Symbol AA change Variation ID SNP ID
1 MYH11 p.Arg1758Gln VAR_031735 rs142546324

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 NDE1 MYH11

GO Terms for Aortic Aneurysm, Familial Thoracic 4

Sources for Aortic Aneurysm, Familial Thoracic 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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