MCID: FML305
MIFTS: 24

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:

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 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 Integrin Pathway. Affiliated tissues include heart.

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 34)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial abdominal, 1 32.9 ELN FBN1
2 aortic aneurysm 29.8 COL3A1 ELN FBN1 MYLK
3 ehlers-danlos syndrome, vascular type 10.0 COL3A1 ELN
4 pelvic organ prolapse 10.0 COL3A1 ELN
5 intracranial aneurysm 9.9 COL3A1 ELN
6 familial thoracic aortic aneurysm and dissection 9.9 COL3A1 FBN1
7 varicose veins 9.9 COL3A1 ELN
8 char syndrome 9.9 COL3A1 FBN1
9 pseudoxanthoma elasticum 9.9 ELN FBN1
10 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.9 ELN FBN1
11 late-onset focal dermal elastosis 9.9 ELN FBN1
12 loeys-dietz syndrome 1 9.9 COL3A1 FBN1
13 collagen disease 9.9 COL3A1 FBN1
14 chronic actinic dermatitis 9.9 ELN FBN1
15 mid-dermal elastolysis 9.9 ELN FBN1
16 autosomal recessive cutis laxa type iii 9.9 ELN FBN1
17 phacogenic glaucoma 9.9 ELN FBN1
18 supravalvular aortic stenosis 9.9 ELN FBN1
19 aortic valve insufficiency 9.9 ELN FBN1
20 sorsby fundus dystrophy 9.9 ELN FBN1
21 fundus dystrophy 9.9 ELN FBN1
22 pneumothorax 9.8 ELN FBN1
23 exfoliation syndrome 9.8 ELN FBN1
24 cutis laxa, autosomal dominant 1 9.8 ELN FBN1
25 heart valve disease 9.8 ELN FBN1
26 aortic disease 9.8 ELN FBN1
27 inguinal hernia 9.8 ELN FBN1
28 orthostatic intolerance 9.8 ELN FBN1
29 loeys-dietz syndrome 3 9.7 COL3A1 FBN1 MYLK
30 loeys-dietz syndrome 9.7 COL3A1 FBN1 MYLK
31 marfan syndrome 9.7 COL3A1 ELN FBN1
32 connective tissue disease 9.7 COL3A1 ELN FBN1
33 aortic valve disease 1 9.6 ELN FBN1
34 aortic aneurysm, familial thoracic 1 9.5 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

MalaCards organs/tissues related to Familial Abdominal Aortic Aneurysm:

41
Heart

Publications for Familial Abdominal Aortic Aneurysm

Articles related to Familial Abdominal Aortic Aneurysm:

# Title Authors Year
1
Outcomes of familial abdominal aortic aneurysm repair in the Vascular Quality Initiative. ( 30064833 )
2018
2
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR. ( 28579278 )
2017
3
What a Vascular Surgeon Should Know About Familial Abdominal Aortic Aneurysm. ( 25902934 )
2015
4
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair. ( 24139982 )
2014
5
Lower atherosclerotic burden in familial abdominal aortic aneurysm. ( 24239112 )
2013
6
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
7
Familial abdominal aortic aneurysm: a systematic review of a genetic background. ( 12389231 )
2002
8
Familial abdominal aortic aneurysm: prevalence and implications for screening. ( 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 COL3A1 ELN FBN1
2 collagen-containing extracellular matrix GO:0062023 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 9.26 COL3A1 FBN1
2 skeletal system development GO:0001501 9.16 COL3A1 FBN1
3 extracellular matrix organization GO:0030198 9.13 COL3A1 ELN FBN1
4 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 9.16 COL3A1 FBN1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.96 ELN FBN1
3 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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