FAA
MCID: FML089
MIFTS: 33

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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).

MalaCards: Familial Thoracic Aortic Aneurysm and Dissection, also known as familial aortic dissection, is related to thoracic aortic aneurysm and aortic aneurysm. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is MYH11 (myosin, heavy chain 11, smooth muscle), and among its related pathways is L1CAM interactions. The compounds ly294002 and vegf have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, and related mouse phenotypes are integument and renal/urinary system.

Wikipedia:65 Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial... more...

Description from OMIM:47 607086

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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49Orphanet, 62UMLS, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial aortic dissection:
Age of onset: Variable


Aliases & Descriptions:

familial thoracic aortic aneurysm and dissection 43 21
familial aortic dissection 43 21 49 47
annuloaortic ectasia 43 21 49
congenital aneurysm of ascending aorta 21 62
familial thoracic aortic aneurysm 43 21
cystic medial necrosis of aorta 49 62
familial aortic aneurysm 43 21
familial taad 43 21
erdheim disease 49
taad 21
faa 21


External Ids:

OMIM47 607086
ICD10 via Orphanet26 I71.0

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Familial Thoracic Aortic Aneurysm and Dissection:

33
Smooth muscle

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

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37MGI
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MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1MYH11, SMAD3
2MP:00053679.0MYH11, SMAD3
3MP:00053818.8MYH11, SMAD3

Publications for Familial Thoracic Aortic Aneurysm and Dissection

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52PubMed
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Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

idTitleAuthorsYear
1
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. (22772371)
2012
2
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. (21778426)
2011
3
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. (19336958)
2009
4
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. (16646045)
2006
5
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (16027248)
2005
6
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. (12821554)
2003
7
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Thoracic Aortic Aneurysm and Dissection:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACTA2NM_001141945.1(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066

Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome
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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

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ly294002459.2MYH11, SMAD3
2vegf459.2MYH11, SMAD3
3phosphatidylinositol459.1MYH11, SMAD3
4serine459.1MYH11, SMAD3
5nitric oxide45 24 1111.0SMAD3, MYH11
6estrogen458.8MYH11, SMAD3

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

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Products for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Thoracic Aortic Aneurysm and Dissection

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet