FAA
MCID: FML089
MIFTS: 43

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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:63 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:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial aortic dissection:
Age of onset: Variable


Aliases & Descriptions:

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 60
familial thoracic aortic aneurysm 42 21
cystic medial necrosis of aorta 48 60
familial aortic aneurysm 42 21
familial taad 42 21
erdheim disease 48
taad 21
faa 21


External Ids:

OMIM46 607086
ICD10 via Orphanet26 I71.0

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

About this section
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 60)
idRelated DiseaseScoreTop Affiliating Genes
1thoracic aortic aneurysm31.1MYH11, TGFBR2, FBN1
2aortic aneurysm31.1FBN1, ACTA2, TGFBR2, TGFBR1
3intracranial aneurysm30.5COL3A1
4marfan syndrome30.5FBN1, TGFBR2, TGFBR1, COL3A1
5aortic disease30.3FBN1
6aneurysm disease30.3TGFBR2, FBN1, COL3A1
7loeys-dietz syndrome30.2TGFBR1, ACTA2, COL3A1, FBN1, TGFBR2
8connective tissue disease30.1FBN1
9dissecting aortic aneurysm10.8
10cystic medial necrosis of aorta10.6
11marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
12melanoma10.4
13patent ductus arteriosus10.4
14aortic incompetence10.3
15acta2-related thoracic aortic aneurysms and aortic dissections10.3
16mylk-related thoracic aortic aneurysms and aortic dissections10.3
17cardiac tamponade10.2
18coronary aneurysm10.2
19aortitis10.2
20dextrocardia10.2
21adult syndrome10.2
22shprintzen-goldberg syndrome10.2
23aortic aneurysm, familial thoracic 410.1
24chromosomal disease10.1
25fanconi syndrome10.0
26seckel syndrome10.0
27hereditary hemorrhagic telangiectasia10.0TGFBR1
28myeloid leukemia10.0MYH11
29peritonitis10.0COL3A1
30osteoarthritis10.0TGFB2
31infertility10.0TGFB2
32hepatitis c10.0SMAD3
33chondrosarcoma10.0TGFBR1
34glomerulonephritis10.0TGFBR1, TGFBR2
35adenoma10.0TGFBR2, TGFBR1
36pneumothorax10.0COL3A1
37lichen planus10.0FBN1
38cleft palate10.0TGFBR1, TGFBR2
39proliferative vitreoretinopathy10.0TGFBR2, TGFB2
40arthritis10.0FBN1
41telangiectasis10.0TGFBR1, FBN1
42mitral valve prolapse10.0FBN1
43leiomyoma10.0TGFBR2, SMAD3
44diabetic nephropathy10.0SMAD3, TGFBR2, TGFBR1
45bullous keratopathy10.0FBN1, TGFB2
46pulmonary fibrosis10.0TGFBR2, TGFB2, SMAD3
47squamous cell carcinoma of the head and neck10.0TGFBR1, SMAD3, TGFBR2
48thoracic aortic aneurysms and aortic dissections10.0MYH11, TGFBR1, TGFBR2, ACTA2
49colon cancer10.0TGFBR2, TGFBR1, SMAD3
50osteosarcoma10.0TGFB2, FBN1

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

About this section
Sources:
5CenterWatch, 41NIH 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

About this section

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

About this section
Sources:
32MalaCards
See all sources

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
Sources:
36MGI
See all sources

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6COL3A1, TGFBR2, TGFBR1, TGFB2
2MP:00053698.1COL3A1, FBN1, MYH11, TGFBR2, TGFB2
3MP:00053818.1COL3A1, MYH11, SMAD3, TGFBR2, TGFB2
4MP:00107717.8COL3A1, FBN1, MYH11, SMAD3, TGFBR1
5MP:00053807.8TGFB2, TGFBR1, TGFBR2, SMAD3, FBN1
6MP:00053907.7FBN1, SMAD3, TGFBR2, TGFBR1, TGFB2
7MP:00053857.6TGFB2, TGFBR1, SMAD3, ACTA2, MYH11, FBN1
8MP:00053787.1COL3A1, FBN1, MYH11, SMAD3, TGFBR2, TGFBR1
9MP:00053767.1COL3A1, FBN1, MYH11, SMAD3, TGFBR2, TGFBR1
10MP:00107687.0COL3A1, FBN1, MYH11, SMAD3, TGFBR2, TGFBR1

Publications for Familial Thoracic Aortic Aneurysm and Dissection

About this section

Genetic Variations for Familial Thoracic Aortic Aneurysm and Dissection

About this section

Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 59Tocris Bioscience, 29KEGG, 12EMD Millipore, 52R&D Systems, 55SinoBiological, 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

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
See all sources

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

(show all 18)
idCompoundScoreTop Affiliating Genes
1glutamate449.9FBN1
2taad449.8TGFBR2, FBN1
3p005449.3TGFB2, TGFBR2
4serine449.3FBN1, MYH11, TGFBR1
5ly294002449.1TGFBR1, TGFBR2, SMAD3, MYH11
6matrigel448.8TGFB2, TGFBR1, SMAD3
7ribonucleic acid448.7TGFB2, TGFBR1, TGFBR2, COL3A1
8dihydrotestosterone44 28 11 2411.7SMAD3, TGFBR2, TGFBR1, TGFB2
9oligonucleotide448.5SMAD3, TGFBR2, TGFBR1, TGFB2
10alanine448.5FBN1, SMAD3, TGFBR2, TGFBR1
11vitamin d448.4FBN1, SMAD3, TGFBR2, TGFB2
12vegf448.3TGFB2, TGFBR1, TGFBR2, SMAD3, MYH11
13nitric oxide44 11 2410.3MYH11, SMAD3, TGFBR2, TGFBR1, TGFB2
14progesterone44 59 28 11 2412.2FBN1, MYH11, TGFBR2, TGFBR1, TGFB2
15retinoic acid44 249.1TGFB2, TGFBR1, TGFBR2, MYH11, FBN1
16tgf beta1448.1TGFB2, TGFBR1, TGFBR2, SMAD3, FBN1
17tyrosine448.0TGFB2, TGFBR1, TGFBR2, FBN1
18estrogen447.7FBN1, MYH11, SMAD3, TGFBR2, TGFBR1, TGFB2

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

About this section
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:0700229.6TGFBR2, TGFBR1
2smooth muscle contractile fiberGO:0304859.5MYH11, ACTA2
3receptor complexGO:0432359.2TGFBR1, TGFBR2, SMAD3
4extracellular matrixGO:0310128.6TGFB2, FBN1, COL3A1

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:07072310.0TGFBR1, TGFBR2
2digestive tract developmentGO:0485659.9TGFBR2, COL3A1
3lens development in camera-type eyeGO:0020889.9TGFBR2, TGFBR1
4peptidyl-threonine phosphorylationGO:0181079.8TGFBR1, TGFBR2
5positive regulation of epithelial cell migrationGO:0106349.6TGFB2, TGFBR2
6blood vessel developmentGO:0015689.6TGFBR2, COL3A1
7activation of protein kinase activityGO:0321479.6TGFBR2, TGFB2
8embryonic cranial skeleton morphogenesisGO:0487019.6TGFBR1, TGFBR2, SMAD3
9negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.5TGFBR1, TGFBR2, SMAD3
10neuron fate commitmentGO:0486639.5TGFB2, TGFBR1
11negative regulation of immune responseGO:0507779.5TGFB2, COL3A1
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:0018379.3TGFB2, TGFBR1
16extrinsic apoptotic signaling pathwayGO:0971919.3SMAD3, TGFB2
17skeletal system developmentGO:0015019.3COL3A1, FBN1, TGFBR1
18pathway-restricted SMAD protein phosphorylationGO:0603899.3TGFBR2, TGFBR1, TGFB2
19collagen fibril organizationGO:0301999.1TGFB2, TGFBR1, COL3A1
20cell cycle arrestGO:0070509.0TGFB2, TGFBR1, SMAD3
21protein phosphorylationGO:0064688.9TGFB2, TGFBR1, TGFBR2
22extracellular matrix organizationGO:0301988.6COL3A1, FBN1, TGFB2
23axon guidanceGO:0074118.6TGFB2, MYH11, COL3A1
24wound healingGO:0420608.3TGFB2, TGFBR1, TGFBR2, SMAD3, COL3A1
25transforming growth factor beta receptor signaling pathwayGO:0071798.3COL3A1, SMAD3, TGFBR2, TGFBR1, TGFB2
26heart developmentGO:0075078.2TGFB2, TGFBR1, TGFBR2, FBN1, 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:0050249.7TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:0504319.4TGFBR1, TGFBR2
4SMAD bindingGO:0463329.4TGFBR1, TGFBR2, COL3A1
5type II transforming growth factor beta receptor bindingGO:0051149.4TGFB2, TGFBR1
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet