AAA3
MCID: ART152
MIFTS: 14

Aortic Aneurysm, Familial Abdominal, 3 (AAA3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Abdominal, 3

MalaCards integrated aliases for Aortic Aneurysm, Familial Abdominal, 3:

Name: Aortic Aneurysm, Familial Abdominal, 3 57
Aneurysm, Familial Abdominal 3 57 13
Aortic Aneurysm, Familial Abdominal 3 70
Aaa3 57

Classifications:



External Ids:

OMIM® 57 611891
OMIM Phenotypic Series 57 PS100070
MedGen 41 C2678470
UMLS 70 C2678470

Summaries for Aortic Aneurysm, Familial Abdominal, 3

MalaCards based summary : Aortic Aneurysm, Familial Abdominal, 3, also known as aneurysm, familial abdominal 3, is related to aortic aneurysm, familial abdominal, 4. An important gene associated with Aortic Aneurysm, Familial Abdominal, 3 is AAA3 (Aneurysm, Familial Abdominal 3).

More information from OMIM: 611891 PS100070

Related Diseases for Aortic Aneurysm, Familial Abdominal, 3

Diseases in the Familial Abdominal Aortic Aneurysm family:

Aortic Aneurysm, Familial Abdominal, 1 Aortic Aneurysm, Familial Abdominal, 2
Aortic Aneurysm, Familial Abdominal, 3 Aortic Aneurysm, Familial Abdominal, 4

Diseases related to Aortic Aneurysm, Familial Abdominal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 4 10.0

Symptoms & Phenotypes for Aortic Aneurysm, Familial Abdominal, 3

Clinical features from OMIM®:

611891 (Updated 05-Apr-2021)

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 3

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Abdominal, 3

Genetic Tests for Aortic Aneurysm, Familial Abdominal, 3

Anatomical Context for Aortic Aneurysm, Familial Abdominal, 3

Publications for Aortic Aneurysm, Familial Abdominal, 3

Articles related to Aortic Aneurysm, Familial Abdominal, 3:

(showing 15, show less)
# Title Authors PMID Year
1
Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion. 57
18854858 2009
2
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. 57
18176561 2008
3
A common variant on chromosome 9p21 affects the risk of myocardial infarction. 57
17478679 2007
4
The regulatory function of the AAA4 ATPase domain of cytoplasmic dynein. 61
33230227 2020
5
Role of AAA3 Domain in Allosteric Communication of Dynein Motor Proteins. 61
31891071 2019
6
Dynamics of Allosteric Transitions in Dynein. 61
30270176 2018
7
Lis1 Has Two Opposing Modes of Regulating Cytoplasmic Dynein. 61
28886386 2017
8
Cytoplasmic dynein regulates its attachment to microtubules via nucleotide state-switched mechanosensing at multiple AAA domains. 61
25941405 2015
9
The AAA3 domain of cytoplasmic dynein acts as a switch to facilitate microtubule release. 61
25486306 2015
10
Allosteric communication in the dynein motor domain. 61
25417161 2014
11
Coarse-grained modeling of the structural states and transition underlying the powerstroke of dynein motor domain. 61
22519354 2012
12
Insights into dynein motor domain function from a 3.3-Å crystal structure. 61
22426545 2012
13
Regulatory ATPase sites of cytoplasmic dynein affect processivity and force generation. 61
18650442 2008
14
Long range allosteric control of cytoplasmic dynein ATPase activity by the stalk and C-terminal domains. 61
16030013 2005
15
Molecular dissection of the roles of nucleotide binding and hydrolysis in dynein's AAA domains in Saccharomyces cerevisiae. 61
14755060 2004

Variations for Aortic Aneurysm, Familial Abdominal, 3

Expression for Aortic Aneurysm, Familial Abdominal, 3

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Abdominal, 3.

Pathways for Aortic Aneurysm, Familial Abdominal, 3

GO Terms for Aortic Aneurysm, Familial Abdominal, 3

Sources for Aortic Aneurysm, Familial Abdominal, 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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