FAA
MCID: FML089
MIFTS: 33

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

About this section


Fully expand this MalaCard
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 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.

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

Description from OMIM:46 607086

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

About this section
Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 26ICD10 via Orphanet
See all sources

Familial Thoracic Aortic Aneurysm and Dissection, Aliases & Descriptions:

Name: Familial Thoracic Aortic Aneurysm and Dissection 42 21
Familial Aortic Dissection 42 21 48 46
Annuloaortic Ectasia 42 21 48
Congenital Aneurysm of Ascending Aorta 21 62
Familial Thoracic Aortic Aneurysm 42 21
Cystic Medial Necrosis of Aorta 48 62
 
Familial Aortic Aneurysm 42 21
Familial Taad 42 21
Erdheim Disease 48
Taad 21
Faa 21


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 Orphanet26 I71.0

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

About this section

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

About this section


Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

About this section

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

About this section

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

About this section

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

About this section

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

About this section

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

About this section

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

6
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

About this section
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

About this section

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
9.0ACTA2, 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 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
9.0ACTA2, MYH11
10
Show member pathways
9.0ACTA2, MYH11

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

About this section
Sources:
44Novoseek
See all sources

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Thoracic Aortic Aneurysm and Dissection

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet