MCID: FML089
MIFTS: 35

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:23 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 loeys-dietz syndrome. 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:65 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 43 23
Cystic Medial Necrosis of Aorta 43 49 62
Familial Aortic Dissection 43 23 49
Annuloaortic Ectasia 43 23 49
Congenital Aneurysm of Ascending Aorta 23 62
Familial Thoracic Aortic Aneurysm 43 23
Isolated Cryptophthalmia 43 49
Familial Aortic Aneurysm 43 23
 
Erdheim Disease 43 49
Familial Taad 43 23
Thoracic Aortic Aneurysm 23
Ftaad 23
Taad 23
Faa 23
Taa 23


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cystic medial necrosis of aorta:
Age of onset: All ages
isolated cryptophthalmia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 229, 91396
ICD10 via Orphanet28 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/GeneDecks gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm31.3ACTA2
2loeys-dietz syndrome30.4ACTA2
3thoracic aortic aneurysms and aortic dissections30.0ACTA2, MYH11
4thoracic aortic aneurysm10.9
5aneurysm10.9
6cystic medial necrosis of aorta10.7
7dysphagia10.7
8paraplegia10.6
9cerebritis10.6
10esophagitis10.6
11marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.6
12aortic aneurysm, familial thoracic 110.5
13melanoma10.5
14wiskott-aldrich syndrome10.4
15lung cancer10.4
16mediastinitis10.4
17aortic coarctation10.4
18patent ductus arteriosus10.4
19marfan syndrome10.4
20coronary artery disease10.3
21limb ischemia10.3
22artery disease10.3
23laryngitis10.3
24pneumonia10.3
25tgfbr1-related thoracic aortic aneurysms and aortic dissections10.3
26tgfbr2-related thoracic aortic aneurysms and aortic dissections10.3
27acta2-related thoracic aortic aneurysms and aortic dissections10.3
28myh11-related thoracic aortic aneurysms and aortic dissections10.3
29fbn1-related thoracic aortic aneurysms and aortic dissections10.3
30mylk-related thoracic aortic aneurysms and aortic dissections10.3
31smad3-related thoracic aortic aneurysms and aortic dissections10.3
32kommerell diverticulum10.3
33pulmonary edema10.3
34shprintzen-goldberg syndrome10.3
35dextrocardia10.3
36cardiac tamponade10.3
37aortitis10.3
38coronary aneurysm10.3
39rheumatoid arthritis10.2
40systemic lupus erythematosus10.2
41aortic aneurysm, familial thoracic 810.2
42multisystemic smooth muscle dysfunction syndrome10.2
43bacteremia10.2
44arthritis10.2
45atherosclerosis10.2
46critical limb ischemia10.2
47osteoarthritis10.2
48ulcerative colitis10.2
49takayasu's arteritis10.2
50gastric ulcer10.2

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:

33
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:

37
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:

7
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH11, SMAD3
2
Show member pathways
9.0MYH11, ACTA2
3
Show member pathways
9.0MYH11, ACTA2
4
Show member pathways
9.0MYH11, ACTA2
5
Show member pathways
9.0MYH11, ACTA2
6
Show member pathways
9.0ACTA2, MYH11
7
Show member pathways
9.0MYH11, ACTA2
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.0MYH11, ACTA2
9
Show member pathways
9.0MYH11, ACTA2
10
Show member pathways
9.0MYH11, ACTA2

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
45Novoseek
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ly294002459.1MYH11, 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/GeneDecks:

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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet