FAA
MCID: FML089
MIFTS: 39

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Cardiovascular, Genetic categories

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export 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: 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 are Striated Muscle Contraction and Signaling by GPCR. The compounds glutamate and taad have been mentioned in the context of this disorder. Affiliated tissues include heart and smooth muscle, and related mouse phenotypes are respiratory system and muscle.

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61
familial thoracic aortic aneurysm 43 21
cystic medial necrosis of aorta 49 61
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

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Familial Thoracic Aortic Aneurysm and Dissection via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1thoracic aortic aneurysm31.2FBN1, MYH11, TGFBR2
2aortic aneurysm31.2TGFBR1, FBN1, ACTA2, TGFBR2
3intracranial aneurysm30.6COL3A1
4marfan syndrome30.5COL3A1, FBN1, TGFBR2, TGFBR1
5aortic disease30.3FBN1
6aneurysm disease30.3COL3A1, FBN1, TGFBR2
7loeys-dietz syndrome30.3COL3A1, FBN1, ACTA2, TGFBR2, TGFBR1
8cystic medial necrosis of aorta10.7
9marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
10patent ductus arteriosus10.4
11aortic incompetence10.4
12acta2-related thoracic aortic aneurysms and aortic dissections10.3
13mylk-related thoracic aortic aneurysms and aortic dissections10.3
14fanconi's anemia10.3
15char syndrome10.2
16aortic aneurysm, familial thoracic 110.2
17cardiac tamponade10.2
18coronary aneurysm10.2
19aortitis10.2
20dextrocardia10.2
21dissecting aortic aneurysm10.2
22adult syndrome10.2
23shprintzen-goldberg syndrome10.2
24cardiac rupture10.2
25aortic aneurysm, familial thoracic 410.1
26conn's syndrome10.1
27young syndrome10.1
28fanconi syndrome10.0
29n syndrome10.0
30hereditary hemorrhagic telangiectasia10.0TGFBR1
31myeloid leukemia10.0MYH11
32peritonitis10.0COL3A1
33osteoarthritis10.0TGFB2
34infertility10.0TGFB2
35hepatitis c10.0SMAD3
36chondrosarcoma10.0TGFBR1
37glomerulonephritis10.0TGFBR1, TGFBR2
38adenoma10.0TGFBR1, TGFBR2
39pneumothorax10.0COL3A1
40connective tissue disease10.0FBN1
41lichen planus10.0FBN1
42cleft palate10.0TGFBR1, TGFBR2
43proliferative vitreoretinopathy10.0TGFB2, TGFBR2
44arthritis10.0FBN1
45mitral valve prolapse10.0FBN1
46telangiectasis10.0FBN1, TGFBR1
47leiomyoma10.0TGFBR2, SMAD3
48diabetic nephropathy10.0TGFBR1, TGFBR2, SMAD3
49bullous keratopathy10.0TGFB2, FBN1
50pulmonary fibrosis10.0SMAD3, TGFBR2, TGFB2

Graphical network of the top 20 diseases related to Familial Thoracic Aortic Aneurysm and Dissection:



Diseases related to familial thoracic aortic aneurysm and dissection

Clinical Features for Familial Thoracic Aortic Aneurysm and Dissection

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Thoracic Aortic Aneurysm and Dissection

Drug clinical trials:

Search ClinicalTrials for Familial Thoracic Aortic Aneurysm and Dissection

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Search CenterWatch for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

Sources:
33MalaCards
See all sources

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

33
Heart, Smooth muscle

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Variations for Familial Thoracic Aortic Aneurysm and Dissection

Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 60Tocris Bioscience, 30KEGG, 12EMD Millipore, 53R&D Systems, 56SinoBiological, 4Cell Signaling Technology
See all sources

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

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8ACTA2, MYH11
2
Hide members
9.7TGFBR1, TGFBR2
39.7TGFBR1, TGFBR2
49.7TGFBR2, TGFBR1
59.7TGFBR1, TGFBR2
69.7TGFBR1, TGFBR2
7
Hide members
9.7TGFBR1, TGFBR2
8
Hide members
9.7TGFBR2, TGFBR1
9
Hide members
9.7TGFBR2, TGFBR1
109.5TGFBR1, SMAD3
119.5SMAD3, TGFBR1
12
Hide members
9.4TGFBR2, ACTA2, MYH11
13
Hide members
9.2TGFBR1, TGFB2
149.2TGFBR1, TGFB2
15
Hide members
9.2TGFBR1, TGFB2
169.2SMAD3, TGFBR2, TGFBR1
17
Transcription Androgen Receptor nuclear signaling
Hide members
9.2TGFBR1, TGFBR2, SMAD3
18
Cytokine production by Th17 cells in CF (Mouse model)
9.2TGFBR1, TGFBR2, SMAD3
199.2SMAD3, TGFBR2, TGFBR1
20
Development TGF-beta receptor signaling
Hide members
9.2TGFBR1, TGFBR2, SMAD3
21
Hide members
9.2SMAD3, TGFBR2, TGFBR1
229.2SMAD3, TGFBR2, TGFBR1
239.2TGFBR1, TGFBR2, SMAD3
24
Hide members
9.0TGFB2, FBN1
258.9TGFB2, TGFBR1, TGFBR2
26
Hide members
8.9TGFBR2, TGFBR1, TGFB2
27
Hide members
8.9TGFB2, TGFBR1, TGFBR2
288.9TGFBR2, TGFBR1, TGFB2
298.9TGFBR2, TGFBR1, TGFB2
30
Hide members
8.9TGFB2, TGFBR1, TGFBR2
31
Hide members
8.9TGFB2, TGFBR1, TGFBR2
328.9TGFB2, TGFBR1, TGFBR2
338.9TGFBR2, TGFBR1, TGFB2
34
Hide members
8.7COL3A1, FBN1, MYH11, ACTA2
358.5ACTA2, TGFBR2, TGFBR1, TGFB2
36
Hide members
8.5ACTA2, TGFBR2, TGFBR1, TGFB2
37
Cell cycle Cell cycle (generic schema)
Hide members
8.4TGFB2, TGFBR1, TGFBR2, SMAD3
388.4SMAD3, TGFBR2, TGFBR1, TGFB2
39
Hide members
8.4TGFB2, TGFBR1, TGFBR2, SMAD3
408.4TGFB2, TGFBR1, TGFBR2, SMAD3
418.4TGFB2, TGFBR1, TGFBR2, SMAD3
428.4SMAD3, TGFBR2, TGFBR1, TGFB2
43
Hide members
8.4SMAD3, TGFBR2, TGFBR1, TGFB2
448.4TGFB2, TGFBR1, TGFBR2, SMAD3
45
Hide members
8.2MYH11, ACTA2, TGFBR2, TGFBR1, TGFB2
46
Hide members
7.8COL3A1, FBN1, ACTA2, TGFBR1, TGFB2
47
Hide members
7.1COL3A1, FBN1, MYH11, ACTA2, TGFBR2, TGFBR1

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

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

(show all 18)
idCompoundScoreTop Affiliating Genes
1glutamate459.9FBN1
2taad459.8TGFBR2, FBN1
3p005459.3TGFB2, TGFBR2
4serine459.3FBN1, MYH11, TGFBR1
5ly294002459.1TGFBR1, TGFBR2, SMAD3, MYH11
6matrigel458.8TGFB2, TGFBR1, SMAD3
7ribonucleic acid458.7TGFB2, TGFBR1, TGFBR2, COL3A1
8dihydrotestosterone45 29 11 2411.7SMAD3, TGFBR2, TGFBR1, TGFB2
9oligonucleotide458.5SMAD3, TGFBR2, TGFBR1, TGFB2
10alanine458.5FBN1, SMAD3, TGFBR2, TGFBR1
11vitamin d458.4FBN1, SMAD3, TGFBR2, TGFB2
12vegf458.3TGFB2, TGFBR1, TGFBR2, SMAD3, MYH11
13nitric oxide45 11 2410.3MYH11, SMAD3, TGFBR2, TGFBR1, TGFB2
14progesterone45 60 29 11 2412.2FBN1, MYH11, TGFBR2, TGFBR1, TGFB2
15retinoic acid45 249.1TGFB2, TGFBR1, TGFBR2, MYH11, FBN1
16tgf beta1458.1TGFB2, TGFBR1, TGFBR2, SMAD3, FBN1
17tyrosine458.0TGFB2, TGFBR1, TGFBR2, FBN1
18estrogen457.7FBN1, MYH11, SMAD3, TGFBR2, TGFBR1, TGFB2

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

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.6TGFBR1, TGFBR2
2smooth muscle contractile fiberGO:0304859.5ACTA2, MYH11
3receptor complexGO:0432359.2TGFBR1, SMAD3, TGFBR2
4extracellular matrixGO:0310128.6COL3A1, FBN1, TGFB2

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:07072310.0TGFBR2, TGFBR1
2digestive tract developmentGO:0485659.9TGFBR2, COL3A1
3lens development in camera-type eyeGO:0020889.9TGFBR1, TGFBR2
4peptidyl-threonine phosphorylationGO:0181079.8TGFBR2, TGFBR1
5positive regulation of epithelial cell migrationGO:0106349.6TGFB2, TGFBR2
6blood vessel developmentGO:0015689.6TGFBR2, COL3A1
7activation of protein kinase activityGO:0321479.6TGFB2, TGFBR2
8embryonic cranial skeleton morphogenesisGO:0487019.6TGFBR1, SMAD3, TGFBR2
9negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.5SMAD3, TGFBR1, TGFBR2
10neuron fate commitmentGO:0486639.5TGFB2, TGFBR1
11negative regulation of immune responseGO:0507779.5COL3A1, TGFB2
12regulation of transforming growth factor beta2 productionGO:0329099.5SMAD3, TGFB2
13in utero embryonic developmentGO:0017019.4SMAD3, TGFBR2, TGFBR1
14positive regulation of epithelial to mesenchymal transitionGO:0107189.4TGFB2, SMAD3
15epithelial to mesenchymal transitionGO:0018379.3TGFBR1, TGFB2
16extrinsic apoptotic signaling pathwayGO:0971919.3TGFB2, SMAD3
17skeletal system developmentGO:0015019.3COL3A1, TGFBR1, FBN1
18pathway-restricted SMAD protein phosphorylationGO:0603899.3TGFB2, TGFBR2, TGFBR1
19collagen fibril organizationGO:0301999.1COL3A1, TGFBR1, TGFB2
20cell cycle arrestGO:0070509.0TGFBR1, SMAD3, TGFB2
21protein phosphorylationGO:0064688.9TGFBR2, TGFBR1, TGFB2
22extracellular matrix organizationGO:0301988.6FBN1, TGFB2, COL3A1
23axon guidanceGO:0074118.6COL3A1, MYH11, TGFB2
24wound healingGO:0420608.3TGFB2, TGFBR2, SMAD3, COL3A1, TGFBR1
25transforming growth factor beta receptor signaling pathwayGO:0071798.3TGFBR2, TGFBR1, SMAD3, COL3A1, TGFB2
26heart developmentGO:0075078.2FBN1, TGFBR2, TGFB2, TGFBR1, COL3A1

Molecular functions related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.8TGFBR1, TGFBR2
2transforming growth factor beta-activated receptor activityGO:0050249.7TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:0504319.4TGFBR1, TGFBR2
4SMAD bindingGO:0463329.4COL3A1, TGFBR2, TGFBR1
5type II transforming growth factor beta receptor bindingGO:0051149.4TGFBR1, TGFB2
6receptor signaling protein serine/threonine kinase activityGO:0047029.3TGFBR2, TGFB2
7transforming growth factor beta receptor bindingGO:0051609.0TGFB2, SMAD3

Products for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Thoracic Aortic Aneurysm and Dissection

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet