MCID: FML305
MIFTS: 23

Familial Abdominal Aortic Aneurysm

Categories: Cardiovascular diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Abdominal Aortic Aneurysm

MalaCards integrated aliases for Familial Abdominal Aortic Aneurysm:

Name: Familial Abdominal Aortic Aneurysm 59

Classifications:



External Ids:

Orphanet 59 ORPHA86
ICD10 via Orphanet 34 I71.4

Summaries for Familial Abdominal Aortic Aneurysm

MalaCards based summary : Familial Abdominal Aortic Aneurysm is related to aortic aneurysm, familial abdominal, 1 and aneurysm. An important gene associated with Familial Abdominal Aortic Aneurysm is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway.

Related Diseases for Familial Abdominal Aortic Aneurysm

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 Familial Abdominal Aortic Aneurysm via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 1 32.0 ELN FBN1
2 aneurysm 28.1 COL3A1 ELN FBN1 MYLK
3 aortic aneurysm 28.1 COL3A1 ELN FBN1 MYLK
4 ehlers-danlos syndrome, hypermobility type 10.0 COL3A1 FBN1
5 char syndrome 9.9 COL3A1 FBN1
6 ehlers-danlos syndrome, vascular type 9.8 COL3A1 ELN
7 pelvic organ prolapse 9.7 COL3A1 ELN
8 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.7 ELN FBN1
9 late-onset focal dermal elastosis 9.7 ELN FBN1
10 chronic actinic dermatitis 9.6 ELN FBN1
11 mid-dermal elastolysis 9.6 ELN FBN1
12 phacogenic glaucoma 9.6 ELN FBN1
13 intracranial aneurysm 9.6 COL3A1 ELN
14 aortic valve insufficiency 9.6 ELN FBN1
15 sorsby fundus dystrophy 9.6 ELN FBN1
16 supravalvular aortic stenosis 9.6 ELN FBN1
17 varicose veins 9.6 COL3A1 ELN
18 pneumothorax 9.5 ELN FBN1
19 exfoliation syndrome 9.5 ELN FBN1
20 aortic valve disease 1 9.5 ELN FBN1
21 aortic disease 9.5 ELN FBN1
22 loeys-dietz syndrome 9.4 COL3A1 FBN1 MYLK
23 inguinal hernia 9.4 ELN FBN1
24 orthostatic intolerance 9.4 ELN FBN1
25 aortic valve disease 2 9.2 ELN FBN1
26 pseudoxanthoma elasticum 9.1 ELN FBN1
27 collagen disease 9.1 COL3A1 ELN FBN1
28 marfan syndrome 9.1 COL3A1 ELN FBN1
29 connective tissue disease 9.0 COL3A1 ELN FBN1
30 fundus dystrophy 8.9 ELN FBN1
31 aortic aneurysm, familial thoracic 1 8.5 COL3A1 ELN FBN1 MYLK

Graphical network of the top 20 diseases related to Familial Abdominal Aortic Aneurysm:



Diseases related to Familial Abdominal Aortic Aneurysm

Symptoms & Phenotypes for Familial Abdominal Aortic Aneurysm

Drugs & Therapeutics for Familial Abdominal Aortic Aneurysm

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

Genetic Tests for Familial Abdominal Aortic Aneurysm

Anatomical Context for Familial Abdominal Aortic Aneurysm

Publications for Familial Abdominal Aortic Aneurysm

Articles related to Familial Abdominal Aortic Aneurysm:

# Title Authors Year
1
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR. ( 28579278 )
2017
2
What a Vascular Surgeon Should Know About Familial Abdominal Aortic Aneurysm. ( 25902934 )
2015
3
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair. ( 24139982 )
2014
4
Lower atherosclerotic burden in familial abdominal aortic aneurysm. ( 24239112 )
2013
5
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. ( 15096456 )
2004
6
Familial abdominal aortic aneurysm: a systematic review of a genetic background. ( 12389231 )
2002
7
The role of type III collagen in the development of familial abdominal aortic aneurysms. ( 10388642 )
1999
8
Familial abdominal aortic aneurysm: prevalence and implications for screening. ( 8270076 )
1993
9
Familial abdominal aortic aneurysms. ( 3418662 )
1988

Variations for Familial Abdominal Aortic Aneurysm

Expression for Familial Abdominal Aortic Aneurysm

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

Pathways for Familial Abdominal Aortic Aneurysm

Pathways related to Familial Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 COL3A1 ELN FBN1 MYLK
2
Show member pathways
12.32 COL3A1 ELN FBN1
3
Show member pathways
12.06 COL3A1 ELN FBN1 MYLK
4
Show member pathways
11.79 COL3A1 ELN FBN1
5 11.41 COL3A1 MYLK
6
Show member pathways
11.02 ELN FBN1

GO Terms for Familial Abdominal Aortic Aneurysm

Cellular components related to Familial Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 COL3A1 ELN FBN1

Biological processes related to Familial Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.32 COL3A1 FBN1
2 skeletal system development GO:0001501 9.26 COL3A1 FBN1
3 extracellular matrix disassembly GO:0022617 9.16 ELN FBN1
4 extracellular matrix organization GO:0030198 9.13 COL3A1 ELN FBN1
5 aorta smooth muscle tissue morphogenesis GO:0060414 8.62 COL3A1 MYLK

Molecular functions related to Familial Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 COL3A1 FBN1
2 extracellular matrix structural constituent GO:0005201 8.8 COL3A1 ELN FBN1

Sources for Familial Abdominal Aortic Aneurysm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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