FAA
MCID: FML089
MIFTS: 33

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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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).

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

Description from OMIM:48 607086

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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50Orphanet, 63UMLS, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 27ICD10 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):

50
familial aortic dissection:
Age of onset: Variable


Aliases & Descriptions:

familial thoracic aortic aneurysm and dissection 44 22
familial aortic dissection 44 22 50 48
annuloaortic ectasia 44 22 50
congenital aneurysm of ascending aorta 22 63
familial thoracic aortic aneurysm 44 22
cystic medial necrosis of aorta 50 63
familial aortic aneurysm 44 22
familial taad 44 22
erdheim disease 50
taad 22
faa 22


External Ids:

OMIM48 607086
ICD10 via Orphanet27 I71.0

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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34MalaCards
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MalaCards organs/tissues related to Familial Thoracic Aortic Aneurysm and Dissection:

34
Smooth muscle

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

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38MGI
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MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

38
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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53PubMed
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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, 16Gene 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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51PathCards, 56Reactome
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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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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ly294002469.2MYH11, SMAD3
2vegf469.2MYH11, SMAD3
3phosphatidylinositol469.1MYH11, SMAD3
4serine469.1MYH11, SMAD3
5nitric oxide46 25 1211.0SMAD3, MYH11
6estrogen468.8MYH11, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet