MCID: FML305
MIFTS: 20

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 aortic 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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 1 31.8 FBN1 ELN COL3A1
2 aortic aneurysm 29.6 MYLK FBN1 ELN COL3A1
3 aneurysm 29.5 MYLK FBN1 ELN COL3A1
4 atherosclerosis susceptibility 10.0
5 aortic aneurysm, familial abdominal, 2 10.0
6 limb ischemia 10.0
7 generalized atherosclerosis 10.0
8 end stage renal disease 10.0
9 cerebral arterial disease 10.0 ELN COL3A1
10 moyamoya disease 1 9.9 MYLK ELN
11 intracranial aneurysm 9.9 ELN COL3A1
12 aortic aneurysm, familial thoracic 2 9.9 FBN1 COL3A1
13 tricuspid valve prolapse 9.9 FBN1 COL3A1
14 aortic aneurysm, familial thoracic 6 9.9 MYLK FBN1
15 loeys-dietz syndrome 3 9.9 MYLK FBN1
16 loeys-dietz syndrome 1 9.8 MYLK FBN1
17 late-onset focal dermal elastosis 9.8 FBN1 ELN
18 pseudoxanthoma elasticum 9.8 FBN1 ELN
19 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.8 FBN1 ELN
20 chronic actinic dermatitis 9.8 FBN1 ELN
21 mid-dermal elastolysis 9.8 FBN1 ELN
22 ureteric orifice cancer 9.8 FBN1 ELN
23 hemopericardium 9.8 FBN1 ELN
24 autosomal recessive cutis laxa type i 9.8 FBN1 ELN
25 cutis laxa 9.8 FBN1 ELN
26 autosomal recessive cutis laxa type ii classic type 9.8 FBN1 ELN
27 phacogenic glaucoma 9.8 FBN1 ELN
28 aortic valve insufficiency 9.8 FBN1 ELN
29 mitral valve insufficiency 9.8 FBN1 ELN
30 iris disease 9.8 FBN1 ELN
31 supravalvular aortic stenosis 9.8 FBN1 ELN
32 telangiectasis 9.8 FBN1 ELN
33 weill-marchesani syndrome 9.8 FBN1 ELN
34 costello syndrome 9.8 FBN1 ELN
35 mitral valve disease 9.8 FBN1 ELN
36 cutis laxa, autosomal dominant 1 9.8 FBN1 ELN
37 pneumothorax 9.8 FBN1 ELN
38 exfoliation syndrome 9.8 FBN1 ELN
39 varicose veins 9.8 FBN1 ELN
40 homocysteinemia 9.8 FBN1 ELN
41 lymphoid interstitial pneumonia 9.8 FBN1 ELN
42 heart valve disease 9.7 FBN1 ELN
43 stickler syndrome 9.7 FBN1 ELN
44 aortic valve disease 2 9.7 FBN1 ELN
45 diaphragmatic hernia, congenital 9.7 FBN1 ELN
46 atrial heart septal defect 9.7 FBN1 ELN
47 inguinal hernia 9.7 FBN1 ELN
48 glaucoma, primary open angle 9.7 FBN1 ELN
49 intraocular pressure quantitative trait locus 9.7 FBN1 ELN
50 systemic scleroderma 9.7 FBN1 ELN

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:

(show all 11)
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 MYLK FBN1 ELN COL3A1
2
Show member pathways
12.44 FBN1 ELN COL3A1
3
Show member pathways
12.4 MYLK FBN1 ELN COL3A1
4
Show member pathways
11.99 FBN1 ELN COL3A1
5 11.5 MYLK COL3A1
6
Show member pathways
11.12 FBN1 ELN
7 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.96 FBN1 COL3A1
2 extracellular matrix organization GO:0030198 8.8 FBN1 ELN COL3A1

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 9.16 FBN1 COL3A1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.96 FBN1 ELN
3 extracellular matrix structural constituent GO:0005201 8.8 FBN1 ELN COL3A1

Sources for Familial Abdominal Aortic Aneurysm

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....