MCID: FML089
MIFTS: 30

Familial Thoracic Aortic Aneurysm and Dissection malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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Genetics Home Reference:21 Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.

MalaCards based summary: Familial Thoracic Aortic Aneurysm and Dissection, also known as cystic medial necrosis of aorta, is related to aortic aneurysm and thoracic aortic aneurysms and aortic dissections. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is ACTA2 (actin, alpha 2, smooth muscle, aorta), and among its related pathways are L1CAM interactions and Sertoli-Sertoli Cell Junction Dynamics. The compound ly294002 have been mentioned in the context of this disorder. Affiliated tissues include heart and eye, and related mouse phenotype cardiovascular system.

Wikipedia:63 Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch,... more...

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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Familial Thoracic Aortic Aneurysm and Dissection, Aliases & Descriptions:

Name: Familial Thoracic Aortic Aneurysm and Dissection 41 21
Cystic Medial Necrosis of Aorta 41 47 60
Familial Aortic Dissection 41 21 47
Annuloaortic Ectasia 41 21 47
Familial Thoracic Aortic Aneurysm 41 21
Familial Aortic Aneurysm 41 21
Isolated Cryptophthalmia 41 47
Erdheim Disease 41 47
 
Familial Taad 41 21
Congenital Aneurysm of Ascending Aorta 21
Aortic Aneurysm, Thoracic 60
Thoracic Aortic Aneurysm 21
Ftaad 21
Taad 21
Faa 21
Taa 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
cystic medial necrosis of aorta:
Age of onset: All ages
isolated cryptophthalmia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 229, 91396
ICD10 via Orphanet26 I71.0, Q11.2

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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Diseases related to Familial Thoracic Aortic Aneurysm and Dissection via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm31.3ACTA2
2thoracic aortic aneurysms and aortic dissections30.8ACTA2, MYH11
3loeys-dietz syndrome30.4ACTA2
4thoracic aortic aneurysm10.9
5aneurysm10.9
6cystic medial necrosis of aorta10.7
7dysphagia10.7
8ischemia10.7
9marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.7
10paraplegia10.6
11cerebritis10.6
12esophagitis10.6
13aortic aneurysm, familial thoracic 110.5
14aortitis10.5
15abdominal aortic aneurysm10.5
16patent ductus arteriosus10.5
17melanoma10.5
18wiskott-aldrich syndrome10.4
19lung cancer10.4
20mediastinitis10.4
21aortic coarctation10.4
22tgfbr1-related thoracic aortic aneurysms and aortic dissections10.4
23tgfbr2-related thoracic aortic aneurysms and aortic dissections10.4
24acta2-related thoracic aortic aneurysms and aortic dissections10.4
25myh11-related thoracic aortic aneurysms and aortic dissections10.4
26fbn1-related thoracic aortic aneurysms and aortic dissections10.4
27mylk-related thoracic aortic aneurysms and aortic dissections10.4
28smad3-related thoracic aortic aneurysms and aortic dissections10.4
29marfan syndrome10.4
30coronary artery disease10.3
31limb ischemia10.3
32artery disease10.3
33laryngitis10.3
34pneumonia10.3
35kommerell diverticulum10.3
36shprintzen-goldberg syndrome10.3
37dextrocardia10.3
38cardiac tamponade10.3
39coronary aneurysm10.3
40rheumatoid arthritis10.2
41systemic lupus erythematosus10.2
42aortic aneurysm, familial thoracic 810.2
43multisystemic smooth muscle dysfunction syndrome10.2
44bacteremia10.2
45arthritis10.2
46atherosclerosis10.2
47critical limb ischemia10.2
48osteoarthritis10.2
49ulcerative colitis10.2
50takayasu's arteritis10.2

Graphical network of the top 20 diseases related to Familial Thoracic Aortic Aneurysm and Dissection:



Diseases related to familial thoracic aortic aneurysm and dissection

Symptoms for Familial Thoracic Aortic Aneurysm and Dissection

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Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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Drug clinical trials:

Search ClinicalTrials for Familial Thoracic Aortic Aneurysm and Dissection

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

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Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

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MalaCards organs/tissues related to Familial Thoracic Aortic Aneurysm and Dissection:

31
Heart, Eye

Animal Models for Familial Thoracic Aortic Aneurysm and Dissection or affiliated genes

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MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5ACTA2, MYH11, SMAD3

Publications for Familial Thoracic Aortic Aneurysm and Dissection

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Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

idTitleAuthorsYear
1
Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation. (25110237)
2014
2
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. (22772371)
2012
3
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. (21778426)
2011
4
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. (19336958)
2009
5
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. (16646045)
2006
6
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (16027248)
2005
7
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. (12821554)
2003
8
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. (11369686)
2001

Variations for Familial Thoracic Aortic Aneurysm and Dissection

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Clinvar genetic disease variations for Familial Thoracic Aortic Aneurysm and Dissection:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ACTA2NM_001141945.1(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
2ACTA2NM_001141945.1(ACTA2): c.635G> A (p.Arg212Gln)single nucleotide variantLikely pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437

Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Search GEO for disease gene expression data for Familial Thoracic Aortic Aneurysm and Dissection.

Pathways for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Pathways related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH11, SMAD3
2
Show member pathways
9.0ACTA2, MYH11
3
Show member pathways
9.0ACTA2, MYH11
4
Show member pathways
9.0ACTA2, MYH11
5
Show member pathways
9.0MYH11, ACTA2
6
Show member pathways
9.0ACTA2, MYH11
7
Show member pathways
9.0ACTA2, MYH11
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.0MYH11, ACTA2
9
Show member pathways
9.0ACTA2, MYH11
10
Show member pathways
9.0ACTA2, MYH11

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
43Novoseek
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ly294002439.1MYH11, SMAD3

GO Terms for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Cellular components related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1smooth muscle contractile fiberGO:00304858.7ACTA2, MYH11
2cytosolGO:00058298.5ACTA2, MYH11, SMAD3

Biological processes related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.0ACTA2, MYH11

Products for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Thoracic Aortic Aneurysm and Dissection

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet