AAT7
MCID: ART105
MIFTS: 27

Aortic Aneurysm, Familial Thoracic 7 (AAT7)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 7

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 7:

Name: Aortic Aneurysm, Familial Thoracic 7 57 72 29 13 6 70
Aat7 57 72
Aortic Dissection, Familial, with or Without Aortic Aneurysm 57
Aortic Dissection Familial with or Without Aortic Aneurysm 72
Aneurysm, Aortic, Thoracic, Familial, Type 7 39

Characteristics:

OMIM®:

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

Miscellaneous:
incomplete penetrance has been observed
patients develop aortic dissection with little or no aortic enlargement
homozygotes have earlier age at onset and more severe outcome than heterozygotes


HPO:

31
aortic aneurysm, familial thoracic 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613780
OMIM Phenotypic Series 57 PS607086
MeSH 44 D017545
MedGen 41 C3151077
SNOMED-CT via HPO 68 263681008 308546005 67362008
UMLS 70 C3151077

Summaries for Aortic Aneurysm, Familial Thoracic 7

UniProtKB/Swiss-Prot : 72 Aortic aneurysm, familial thoracic 7: 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 7, also known as aat7, is related to familial thoracic aortic aneurysm and aortic dissection. An important gene associated with Aortic Aneurysm, Familial Thoracic 7 is MYLK (Myosin Light Chain Kinase). Affiliated tissues include smooth muscle, and related phenotypes are aortic dissection and aortic aneurysm

More information from OMIM: 613780 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial thoracic aortic aneurysm and aortic dissection 9.5 MYLK-AS1 MYLK

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 7

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 7:

31
# Description HPO Frequency HPO Source Accession
1 aortic dissection 31 HP:0002647
2 aortic aneurysm 31 HP:0004942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
aortic dissection
aortic aneurysm
aortic rupture
superior mesenteric artery dissection
renal artery dissection
more

Clinical features from OMIM®:

613780 (Updated 20-May-2021)

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 7

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 7

Genetic Tests for Aortic Aneurysm, Familial Thoracic 7

Genetic tests related to Aortic Aneurysm, Familial Thoracic 7:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 7 29 MYLK

Anatomical Context for Aortic Aneurysm, Familial Thoracic 7

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 7:

40
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 7

Articles related to Aortic Aneurysm, Familial Thoracic 7:

# Title Authors PMID Year
1
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype. 57 6
29544503 2018
2
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 57 6
28401540 2017
3
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description. 6 57
27586135 2016
4
Mutations in myosin light chain kinase cause familial aortic dissections. 57 6
21055718 2010
5
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 57
17666408 2007
6
Dedicated myosin light chain kinases with diverse cellular functions. 6
11096123 2001
7
Nutrient availability regulates proline/alanine transporters in Trypanosoma brucei. 61
33745971 2021
8
Identification and expression of a cDNA clone encoding aspartate aminotransferase in carrot. 61
16652971 1992

Variations for Aortic Aneurysm, Familial Thoracic 7

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 7:

6 (show top 50) (show all 642)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYLK-AS1 , MYLK NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) SNV Pathogenic 30133 rs387906781 GRCh37: 3:123339147-123339147
GRCh38: 3:123620300-123620300
2 MYLK NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) SNV Pathogenic 30134 rs387906782 GRCh37: 3:123366252-123366252
GRCh38: 3:123647405-123647405
3 MYLK NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) Deletion Pathogenic 409685 rs1060502531 GRCh37: 3:123366197-123366201
GRCh38: 3:123647350-123647354
4 MYLK NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) SNV Pathogenic 268202 rs1553781304 GRCh37: 3:123367861-123367861
GRCh38: 3:123649014-123649014
5 MYLK NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) SNV Pathogenic 268203 rs886229659 GRCh37: 3:123366231-123366231
GRCh38: 3:123647384-123647384
6 MYLK NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) Deletion Pathogenic 471720 rs1553803235 GRCh37: 3:123419049-123419050
GRCh38: 3:123700202-123700203
7 MYLK NM_053025.4(MYLK):c.3652_3652+1del Microsatellite Pathogenic 471724 rs1553795301 GRCh37: 3:123401070-123401071
GRCh38: 3:123682223-123682224
8 MYLK NM_053025.4(MYLK):c.4001dup (p.Ala1335fs) Duplication Pathogenic 539070 rs1553785222 GRCh37: 3:123376259-123376260
GRCh38: 3:123657412-123657413
9 MYLK NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) SNV Pathogenic 539075 rs1382893400 GRCh37: 3:123385074-123385074
GRCh38: 3:123666227-123666227
10 MYLK NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) SNV Pathogenic 694344 rs1576422965 GRCh37: 3:123366219-123366219
GRCh38: 3:123647372-123647372
11 MYLK NM_053025.4(MYLK):c.3715del (p.Gln1239fs) Deletion Pathogenic 859691 GRCh37: 3:123385182-123385182
GRCh38: 3:123666335-123666335
12 MYLK NM_053025.4(MYLK):c.2390+1G>C SNV Pathogenic 979076 GRCh37: 3:123426600-123426600
GRCh38: 3:123707753-123707753
13 MYLK NM_053025.4(MYLK):c.3832-2A>G SNV Likely pathogenic 962269 GRCh37: 3:123383107-123383107
GRCh38: 3:123664260-123664260
14 MYLK NM_053025.4(MYLK):c.4763C>T (p.Pro1588Leu) SNV Likely pathogenic 692053 rs1576401641 GRCh37: 3:123359208-123359208
GRCh38: 3:123640361-123640361
15 MYLK NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) SNV Likely pathogenic 488557 rs928811814 GRCh37: 3:123451938-123451938
GRCh38: 3:123733091-123733091
16 MYLK NM_053025.4(MYLK):c.4619+2T>G SNV Likely pathogenic 539083 rs1553780501 GRCh37: 3:123366069-123366069
GRCh38: 3:123647222-123647222
17 MYLK NM_053025.4(MYLK):c.4415+1G>A SNV Likely pathogenic 573383 rs1430822242 GRCh37: 3:123367817-123367817
GRCh38: 3:123648970-123648970
18 MYLK NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) SNV Conflicting interpretations of pathogenicity 342870 rs374665486 GRCh37: 3:123359246-123359246
GRCh38: 3:123640399-123640399
19 MYLK NM_053025.4(MYLK):c.3832-8G>C SNV Conflicting interpretations of pathogenicity 571663 rs202218458 GRCh37: 3:123383113-123383113
GRCh38: 3:123664266-123664266
20 MYLK NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) SNV Conflicting interpretations of pathogenicity 264174 rs138265409 GRCh37: 3:123471294-123471294
GRCh38: 3:123752447-123752447
21 MYLK NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) SNV Conflicting interpretations of pathogenicity 471713 rs145507832 GRCh37: 3:123419622-123419622
GRCh38: 3:123700775-123700775
22 MYLK NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) SNV Conflicting interpretations of pathogenicity 375866 rs11558550 GRCh37: 3:123419131-123419131
GRCh38: 3:123700284-123700284
23 MYLK NM_053025.4(MYLK):c.993G>A (p.Thr331=) SNV Conflicting interpretations of pathogenicity 263916 rs55932343 GRCh37: 3:123452850-123452850
GRCh38: 3:123734003-123734003
24 MYLK NM_053025.4(MYLK):c.601C>T (p.Leu201=) SNV Conflicting interpretations of pathogenicity 342903 rs773082759 GRCh37: 3:123456378-123456378
GRCh38: 3:123737531-123737531
25 MYLK NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) SNV Conflicting interpretations of pathogenicity 342880 rs149530842 GRCh37: 3:123383039-123383039
GRCh38: 3:123664192-123664192
26 MYLK NM_053025.4(MYLK):c.2604C>T (p.Asp868=) SNV Conflicting interpretations of pathogenicity 471712 rs372924929 GRCh37: 3:123419711-123419711
GRCh38: 3:123700864-123700864
27 MYLK NM_053025.4(MYLK):c.1133G>A (p.Arg378His) SNV Conflicting interpretations of pathogenicity 264282 rs56378658 GRCh37: 3:123452710-123452710
GRCh38: 3:123733863-123733863
28 MYLK NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) SNV Conflicting interpretations of pathogenicity 262282 rs181663420 GRCh37: 3:123376066-123376066
GRCh38: 3:123657219-123657219
29 MYLK NM_053025.4(MYLK):c.1212C>A (p.Pro404=) SNV Conflicting interpretations of pathogenicity 415763 rs765597431 GRCh37: 3:123452631-123452631
GRCh38: 3:123733784-123733784
30 MYLK NM_053025.4(MYLK):c.1213A>G (p.Met405Val) SNV Conflicting interpretations of pathogenicity 342898 rs35436690 GRCh37: 3:123452630-123452630
GRCh38: 3:123733783-123733783
31 MYLK NM_053025.4(MYLK):c.4620-6C>T SNV Conflicting interpretations of pathogenicity 227625 rs113607507 GRCh37: 3:123359357-123359357
GRCh38: 3:123640510-123640510
32 MYLK NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) SNV Conflicting interpretations of pathogenicity 415756 rs1060504648 GRCh37: 3:123418979-123418979
GRCh38: 3:123700132-123700132
33 MYLK NM_053025.4(MYLK):c.2253C>T (p.Thr751=) SNV Conflicting interpretations of pathogenicity 342891 rs138777049 GRCh37: 3:123426738-123426738
GRCh38: 3:123707891-123707891
34 MYLK NM_053025.4(MYLK):c.2799G>A (p.Val933=) SNV Conflicting interpretations of pathogenicity 264305 rs144806671 GRCh37: 3:123419516-123419516
GRCh38: 3:123700669-123700669
35 MYLK NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) SNV Conflicting interpretations of pathogenicity 409695 rs199988497 GRCh37: 3:123444833-123444833
GRCh38: 3:123725986-123725986
36 MYLK NM_053025.4(MYLK):c.1359C>T (p.Pro453=) SNV Conflicting interpretations of pathogenicity 415762 rs200973568 GRCh37: 3:123451900-123451900
GRCh38: 3:123733053-123733053
37 MYLK NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) SNV Conflicting interpretations of pathogenicity 216969 rs150936840 GRCh37: 3:123426842-123426842
GRCh38: 3:123707995-123707995
38 MYLK NM_053025.4(MYLK):c.2919G>A (p.Pro973=) SNV Conflicting interpretations of pathogenicity 220800 rs149482336 GRCh37: 3:123419396-123419396
GRCh38: 3:123700549-123700549
39 MYLK NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) SNV Conflicting interpretations of pathogenicity 342893 rs138172035 GRCh37: 3:123427717-123427717
GRCh38: 3:123708870-123708870
40 MYLK NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) SNV Conflicting interpretations of pathogenicity 342907 rs368822172 GRCh37: 3:123471295-123471295
GRCh38: 3:123752448-123752448
41 MYLK NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) SNV Conflicting interpretations of pathogenicity 617898 rs778050996 GRCh37: 3:123457827-123457827
GRCh38: 3:123738980-123738980
42 MYLK NM_053025.4(MYLK):c.207C>T (p.Asn69=) SNV Conflicting interpretations of pathogenicity 262276 rs376457425 GRCh37: 3:123471344-123471344
GRCh38: 3:123752497-123752497
43 MYLK NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) SNV Conflicting interpretations of pathogenicity 561310 rs371814184 GRCh37: 3:123359228-123359228
GRCh38: 3:123640381-123640381
44 MYLK NM_053025.4(MYLK):c.3024G>A (p.Val1008=) SNV Conflicting interpretations of pathogenicity 342883 rs886057860 GRCh37: 3:123419291-123419291
GRCh38: 3:123700444-123700444
45 MYLK NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) SNV Conflicting interpretations of pathogenicity 509538 rs553472487 GRCh37: 3:123383040-123383040
GRCh38: 3:123664193-123664193
46 MYLK NM_053025.4(MYLK):c.399G>T (p.Gln133His) SNV Conflicting interpretations of pathogenicity 263911 rs140148380 GRCh37: 3:123458823-123458823
GRCh38: 3:123739976-123739976
47 MYLK NM_053025.4(MYLK):c.2124C>T (p.Ala708=) SNV Conflicting interpretations of pathogenicity 342892 rs372939794 GRCh37: 3:123427561-123427561
GRCh38: 3:123708714-123708714
48 MYLK-AS1 , MYLK NM_053025.4(MYLK):c.5114+8G>A SNV Conflicting interpretations of pathogenicity 262291 rs202229368 GRCh37: 3:123348313-123348313
GRCh38: 3:123629466-123629466
49 MYLK NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) SNV Conflicting interpretations of pathogenicity 194568 rs201615936 GRCh37: 3:123427565-123427565
GRCh38: 3:123708718-123708718
50 MYLK NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) SNV Conflicting interpretations of pathogenicity 342878 rs371602931 GRCh37: 3:123383022-123383022
GRCh38: 3:123664175-123664175

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 7:

72
# Symbol AA change Variation ID SNP ID
1 MYLK p.Ala1754Thr VAR_065576
2 MYLK p.Ser1759Pro VAR_065577 rs387906781
3 MYLK p.Ala1491Ser VAR_083425

Expression for Aortic Aneurysm, Familial Thoracic 7

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 7.

Pathways for Aortic Aneurysm, Familial Thoracic 7

GO Terms for Aortic Aneurysm, Familial Thoracic 7

Sources for Aortic Aneurysm, Familial Thoracic 7

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
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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
Content
Loading form....