FAA
MCID: FML089
MIFTS: 33

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Genetic diseases, Rare diseases categories

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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OMIM:46 Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic...607086 more...

MalaCards based summary: Familial Thoracic Aortic Aneurysm and Dissection, also known as familial aortic dissection, 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 smooth muscle, and related mouse phenotype cardiovascular system.

Genetics Home Reference:22 Familial thoracic aortic aneurysm and dissection (familial TAAD) is a disorder that 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).

Wikipedia:64 Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial... more...

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
48Orphanet, 61UMLS, 42NIH Rare Diseases, 22Genetics Home Reference, 46OMIM, 27ICD10 via Orphanet
See all sources

Familial Thoracic Aortic Aneurysm and Dissection, Aliases & Descriptions:

Name: Familial Thoracic Aortic Aneurysm and Dissection 42 22
Familial Aortic Dissection 42 22 48 46
Annuloaortic Ectasia 42 22 48
Congenital Aneurysm of Ascending Aorta 22 61
Familial Thoracic Aortic Aneurysm 42 22
Cystic Medial Necrosis of Aorta 48 61
 
Familial Aortic Aneurysm 42 22
Familial Taad 42 22
Erdheim Disease 48
Taad 22
Faa 22


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial aortic dissection:
Age of onset: Variable


External Ids:

OMIM46 607086
ICD10 via Orphanet27 I71.0

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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Graphical network of 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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Clinical features from OMIM:

607086

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:

32
Heart, Smooth muscle

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:

36
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 Name 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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Expression patterns in normal tissues for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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 motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
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:
44Novoseek
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ly294002449.1MYH11, 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:0304858.7ACTA2, MYH11
2cytosolGO:0058298.5ACTA2, MYH11, SMAD3

Biological processes related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.0ACTA2, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet