AAA4
MCID: ART108
MIFTS: 13

Aortic Aneurysm, Familial Abdominal, 4 (AAA4)

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

Aliases & Classifications for Aortic Aneurysm, Familial Abdominal, 4

MalaCards integrated aliases for Aortic Aneurysm, Familial Abdominal, 4:

Name: Aortic Aneurysm, Familial Abdominal, 4 56 13 71
Aaa4 56

Classifications:



External Ids:

OMIM 56 614375
OMIM Phenotypic Series 56 PS100070
UMLS 71 C3280597

Summaries for Aortic Aneurysm, Familial Abdominal, 4

MalaCards based summary : Aortic Aneurysm, Familial Abdominal, 4, also known as aaa4, is related to familial abdominal aortic aneurysm. An important gene associated with Aortic Aneurysm, Familial Abdominal, 4 is AAA4 (Aortic Aneurysm, Familial Abdominal, 4).

More information from OMIM: 614375 PS100070

Related Diseases for Aortic Aneurysm, Familial Abdominal, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 11.3

Symptoms & Phenotypes for Aortic Aneurysm, Familial Abdominal, 4

Clinical features from OMIM:

614375

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 4

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Abdominal, 4

Genetic Tests for Aortic Aneurysm, Familial Abdominal, 4

Anatomical Context for Aortic Aneurysm, Familial Abdominal, 4

Publications for Aortic Aneurysm, Familial Abdominal, 4

Articles related to Aortic Aneurysm, Familial Abdominal, 4:

(show all 11)
# Title Authors PMID Year
1
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. 56
22055160 2011
2
Role of AAA3 Domain in Allosteric Communication of Dynein Motor Proteins. 61
31891071 2019
3
Allosteric conformational change cascade in cytoplasmic dynein revealed by structure-based molecular simulations. 61
28892477 2017
4
Coarse-grained modeling of the structural states and transition underlying the powerstroke of dynein motor domain. 61
22519354 2012
5
Insights into dynein motor domain function from a 3.3-Å crystal structure. 61
22426545 2012
6
Regulatory ATPase sites of cytoplasmic dynein affect processivity and force generation. 61
18650442 2008
7
Point mutations in the stem region and the fourth AAA domain of cytoplasmic dynein heavy chain partially suppress the phenotype of NUDF/LIS1 loss in Aspergillus nidulans. 61
17237507 2007
8
Design and regulation of the AAA+ microtubule motor dynein. 61
15037237 2004
9
Molecular dissection of the roles of nucleotide binding and hydrolysis in dynein's AAA domains in Saccharomyces cerevisiae. 61
14755060 2004
10
Potent side-chain to side-chain cyclized dermorphin analogues containing a carbonyl bridge. 61
14620130 2003
11
Expression and intracellular localization of the human N-acetylmuramyl-L-alanine amidase, a bacterial cell wall-degrading enzyme. 61
9242559 1997

Variations for Aortic Aneurysm, Familial Abdominal, 4

Expression for Aortic Aneurysm, Familial Abdominal, 4

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Abdominal, 4.

Pathways for Aortic Aneurysm, Familial Abdominal, 4

GO Terms for Aortic Aneurysm, Familial Abdominal, 4

Sources for Aortic Aneurysm, Familial Abdominal, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....