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 59

Classifications:



External Ids:

ICD10 via Orphanet 34 I71.4
Orphanet 59 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 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:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 1 33.8 FBN1 ELN
2 aortic aneurysm 29.9 MYLK FBN1 ELN COL3A1
3 aneurysm 10.5
4 late-onset focal dermal elastosis 10.3 FBN1 ELN
5 pseudoxanthoma elasticum 10.3 FBN1 ELN
6 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.3 FBN1 ELN
7 chronic actinic dermatitis 10.3 FBN1 ELN
8 mid-dermal elastolysis 10.2 FBN1 ELN
9 autosomal recessive cutis laxa type iii 10.2 FBN1 ELN
10 phacogenic glaucoma 10.2 FBN1 ELN
11 supravalvular aortic stenosis 10.2 FBN1 ELN
12 aortic valve insufficiency 10.2 FBN1 ELN
13 sorsby fundus dystrophy 10.2 FBN1 ELN
14 ehlers-danlos syndrome, vascular type 10.2 ELN COL3A1
15 familial thoracic aortic aneurysm and dissection 10.2 FBN1 COL3A1
16 pneumothorax 10.2 FBN1 ELN
17 pelvic organ prolapse 10.1 ELN COL3A1
18 exfoliation syndrome 10.1 FBN1 ELN
19 cutis laxa, autosomal dominant 1 10.1 FBN1 ELN
20 char syndrome 10.1 FBN1 COL3A1
21 heart valve disease 10.1 FBN1 ELN
22 limb ischemia 10.1
23 loeys-dietz syndrome 1 10.1 FBN1 COL3A1
24 collagen disease 10.1 FBN1 COL3A1
25 aortic disease 10.0 FBN1 ELN
26 intracranial aneurysm 10.0 ELN COL3A1
27 orthostatic intolerance 10.0 FBN1 ELN
28 atherosclerosis susceptibility 9.9
29 aortic aneurysm, familial abdominal, 2 9.9
30 respiratory failure 9.9
31 generalized atherosclerosis 9.9
32 paraplegia 9.9
33 end stage renal failure 9.9
34 varicose veins 9.9 ELN COL3A1
35 loeys-dietz syndrome 3 9.8 MYLK FBN1 COL3A1
36 loeys-dietz syndrome 9.8 MYLK FBN1 COL3A1
37 inguinal hernia 9.8 FBN1 ELN
38 aortic aneurysm, familial thoracic 1 9.8 FBN1 ELN COL3A1
39 marfan syndrome 9.8 FBN1 ELN COL3A1
40 connective tissue disease 9.8 FBN1 ELN COL3A1
41 aortic valve disease 1 9.6 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. 38
30064833 2019
2
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR. 38
28579278 2017
3
What a vascular surgeon should know about familial abdominal aortic aneurysm. 38
25902934 2015
4
Lower atherosclerotic burden in familial abdominal aortic aneurysm. 38
24239112 2014
5
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair. 38
24139982 2014
6
Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. 38
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. 38
15096456 2004
8
Genetic linkage of candidate genes in families with abdominal aortic aneurysms? 38
12917839 2003
9
Familial abdominal aortic aneurysm: a systematic review of a genetic background. 38
12389231 2002
10
Congenital anomalies and genetic disorders in families of children with central nervous system tumours. 38
7473655 1995
11
Familial abdominal aortic aneurysm: prevalence and implications for screening. 38
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

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 9.13 FBN1 ELN COL3A1
2 collagen-containing extracellular matrix GO:0062023 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 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:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.16 FBN1 COL3A1
2 extracellular matrix structural constituent GO:0005201 9.13 FBN1 ELN COL3A1
3 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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