MCID: FML305
MIFTS: 19

Familial Abdominal Aortic Aneurysm

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

Aliases & Classifications for Familial Abdominal Aortic Aneurysm

MalaCards integrated aliases for Familial Abdominal Aortic Aneurysm:

Name: Familial Abdominal Aortic Aneurysm 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases


External Ids:

ICD10 via Orphanet 33 I71.4
Orphanet 58 ORPHA86

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 AAA2 (Aortic Aneurysm, Familial Abdominal 2), and among its related pathways/superpathways are Integrin Pathway and Degradation of the extracellular matrix.

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:

(showing 68, show less)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 1 33.6 FBN1 ELN
2 aneurysm 30.1 MYLK FBN1 ELN COL3A1
3 aortic aneurysm 30.0 MYLK FBN1 ELN COL3A1
4 late-onset focal dermal elastosis 10.2 FBN1 ELN
5 pseudoxanthoma elasticum 10.2 FBN1 ELN
6 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 FBN1 ELN
7 chronic actinic dermatitis 10.2 FBN1 ELN
8 mid-dermal elastolysis 10.1 FBN1 ELN
9 loeys-dietz syndrome 3 10.1 MYLK FBN1
10 ureteric orifice cancer 10.1 FBN1 ELN
11 loeys-dietz syndrome 1 10.1 MYLK FBN1
12 autosomal recessive cutis laxa type i 10.1 FBN1 ELN
13 cutis laxa 10.1 FBN1 ELN
14 autosomal recessive cutis laxa type ii classic type 10.1 FBN1 ELN
15 moyamoya disease 1 10.1 MYLK ELN
16 phacogenic glaucoma 10.1 FBN1 ELN
17 carotid artery dissection 10.1 MYLK COL3A1
18 aortic valve insufficiency 10.1 FBN1 ELN
19 iris disease 10.1 FBN1 ELN
20 mitral valve insufficiency 10.1 FBN1 ELN
21 supravalvular aortic stenosis 10.1 FBN1 ELN
22 ehlers-danlos syndrome, vascular type 10.1 ELN COL3A1
23 sorsby fundus dystrophy 10.1 FBN1 ELN
24 limb ischemia 10.1
25 telangiectasis 10.1 FBN1 ELN
26 weill-marchesani syndrome 10.1 FBN1 ELN
27 costello syndrome 10.1 FBN1 ELN
28 aortic aneurysm, familial thoracic 2 10.1 FBN1 COL3A1
29 cutis laxa, autosomal dominant 1 10.1 FBN1 ELN
30 tricuspid valve prolapse 10.1 FBN1 COL3A1
31 mitral valve disease 10.0 FBN1 ELN
32 hypermobility syndrome 10.0 FBN1 COL3A1
33 exfoliation syndrome 10.0 FBN1 ELN
34 cerebral arterial disease 10.0 ELN COL3A1
35 pneumothorax 10.0 FBN1 ELN
36 patent ductus arteriosus 1 10.0 FBN1 ELN
37 glaucoma, primary open angle 10.0 FBN1 ELN
38 homocysteinemia 10.0 FBN1 ELN
39 lymphoid interstitial pneumonia 10.0 FBN1 ELN
40 atherosclerosis susceptibility 9.9
41 occipital horn syndrome 9.9
42 aortic aneurysm, familial abdominal, 2 9.9
43 respiratory failure 9.9
44 generalized atherosclerosis 9.9
45 paraplegia 9.9
46 heart valve disease 9.9 FBN1 ELN
47 intracranial aneurysm 9.9 ELN COL3A1
48 inguinal hernia 9.9 FBN1 ELN
49 aortic valve disease 2 9.8 FBN1 ELN
50 heritable thoracic aortic disease 9.8 MYLK FBN1 COL3A1
51 aortic dissection 9.8 FBN1 ELN COL3A1
52 arterial tortuosity syndrome 9.8 FBN1 ELN COL3A1
53 pelvic organ prolapse 9.8 FBN1 ELN COL3A1
54 collagen disease 9.8 FBN1 ELN COL3A1
55 varicose veins 9.8 FBN1 ELN COL3A1
56 brittle bone disorder 9.8 FBN1 ELN COL3A1
57 orthostatic intolerance 9.8 FBN1 ELN COL3A1
58 atrial heart septal defect 9.7 FBN1 ELN
59 ehlers-danlos syndrome 9.7 FBN1 ELN COL3A1
60 odontochondrodysplasia 9.7 FBN1 ELN COL3A1
61 intraocular pressure quantitative trait locus 9.6 FBN1 ELN
62 familial thoracic aortic aneurysm and aortic dissection 9.5 MYLK FBN1 ELN COL3A1
63 aortic aneurysm, familial thoracic 1 9.5 MYLK FBN1 ELN COL3A1
64 loeys-dietz syndrome 9.5 MYLK FBN1 ELN COL3A1
65 aortic disease 9.5 MYLK FBN1 ELN COL3A1
66 marfan syndrome 9.5 MYLK FBN1 ELN COL3A1
67 aortic valve disease 1 9.5 MYLK FBN1 ELN COL3A1
68 connective tissue disease 9.5 MYLK FBN1 ELN COL3A1

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:

(showing 11, show less)
# Title Authors PMID Year
1
Outcomes of familial abdominal aortic aneurysm repair in the Vascular Quality Initiative. 61
30064833 2019
2
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR. 61
28579278 2017
3
What a vascular surgeon should know about familial abdominal aortic aneurysm. 61
25902934 2015
4
Lower atherosclerotic burden in familial abdominal aortic aneurysm. 61
24239112 2014
5
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair. 61
24139982 2014
6
Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. 61
15933979 2005
7
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. 61
15096456 2004
8
Genetic linkage of candidate genes in families with abdominal aortic aneurysms? 61
12917839 2003
9
Familial abdominal aortic aneurysm: a systematic review of a genetic background. 61
12389231 2002
10
Congenital anomalies and genetic disorders in families of children with central nervous system tumours. 61
7473655 1995
11
Familial abdominal aortic aneurysm: prevalence and implications for screening. 61
8270076 1993

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:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 MYLK FBN1 ELN COL3A1
2
Show member pathways
11.99 FBN1 ELN COL3A1
3
Show member pathways
10.82 FBN1 ELN
4 9.83 MYLK FBN1 ELN COL3A1

GO Terms for Familial Abdominal Aortic Aneurysm

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 FBN1 ELN COL3A1
2 extracellular matrix GO:0031012 8.8 FBN1 ELN COL3A1

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.13 FBN1 ELN COL3A1
2 aorta smooth muscle tissue morphogenesis GO:0060414 8.62 MYLK COL3A1

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 FBN1 ELN COL3A1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 ELN

Sources for Familial Abdominal Aortic Aneurysm

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
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