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

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 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

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42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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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

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17GeneCards, 18GeneDecks
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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

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46OMIM
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Clinical features from OMIM:

607086

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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32MalaCards
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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

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36MGI
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MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

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

Publications for Familial Thoracic Aortic Aneurysm and Dissection

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Genetic Variations for Familial Thoracic Aortic Aneurysm and Dissection

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Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
1BioGPS, 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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Sources:
37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 59Tocris Bioscience, 29KEGG, 12EMD Millipore, 52R&D Systems, 55SinoBiological, 4Cell Signaling Technology
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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
9.7TGFBR2, TGFBR1
39.7TGFBR1, TGFBR2
49.7TGFBR2, TGFBR1
59.7TGFBR2, TGFBR1
69.7TGFBR2, TGFBR1
7
Hide members
9.7TGFBR2, TGFBR1
8
Hide members
9.7TGFBR2, TGFBR1
9
Hide members
9.7TGFBR2, TGFBR1
109.5TGFBR1, SMAD3
119.5SMAD3, TGFBR1
12
Hide members
9.4ACTA2, TGFBR2, MYH11
13
Hide members
9.2TGFBR1, TGFB2
149.2TGFBR1, TGFB2
15
Hide members
9.2TGFBR1, TGFB2
169.2TGFBR2, TGFBR1, SMAD3
17
Transcription Androgen Receptor nuclear signaling
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9.2TGFBR2, SMAD3, TGFBR1
18
Cytokine production by Th17 cells in CF (Mouse model)
9.2TGFBR2, SMAD3, TGFBR1
199.2SMAD3, TGFBR2, TGFBR1
20
Development TGF-beta receptor signaling
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9.2SMAD3, TGFBR1, TGFBR2
21
Hide members
9.2TGFBR2, SMAD3, TGFBR1
229.2SMAD3, TGFBR1, TGFBR2
239.2TGFBR2, TGFBR1, SMAD3
24
Hide members
9.0TGFB2, FBN1
258.9TGFBR2, TGFB2, TGFBR1
26
Hide members
8.9TGFBR1, TGFBR2, TGFB2
27
Hide members
8.9TGFBR1, TGFB2, TGFBR2
288.9TGFBR2, TGFBR1, TGFB2
298.9TGFBR2, TGFBR1, TGFB2
30
Hide members
8.9TGFBR2, TGFB2, TGFBR1
31
Hide members
8.9TGFB2, TGFBR1, TGFBR2
328.9TGFB2, TGFBR2, TGFBR1
338.9TGFBR2, TGFBR1, TGFB2
34
Hide members
8.7COL3A1, ACTA2, MYH11, FBN1
35
Hide members
8.5TGFB2, TGFBR1, TGFBR2, ACTA2
368.5ACTA2, TGFBR2, TGFBR1, TGFB2
37
Cell cycle Cell cycle (generic schema)
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8.4TGFBR1, TGFB2, TGFBR2, SMAD3
388.4SMAD3, TGFBR2, TGFB2, TGFBR1
39
Hide members
8.4SMAD3, TGFBR1, TGFB2, TGFBR2
408.4TGFB2, TGFBR2, TGFBR1, SMAD3
418.4TGFBR2, SMAD3, TGFBR1, TGFB2
428.4TGFB2, TGFBR1, TGFBR2, SMAD3
43
Hide members
8.4TGFBR2, TGFBR1, TGFB2, SMAD3
448.4TGFB2, SMAD3, TGFBR1, TGFBR2
45
Hide members
8.2ACTA2, TGFB2, MYH11, TGFBR1, TGFBR2
46
Hide members
7.8FBN1, TGFBR1, COL3A1, ACTA2, TGFB2
47
Hide members
7.1FBN1, MYH11, TGFB2, TGFBR1, TGFBR2, ACTA2

Compounds for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards/GeneDecks:

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

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

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16Gene Ontology
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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

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Sources for Familial Thoracic Aortic Aneurysm and Dissection

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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