AAT5
MCID: LYS007
MIFTS: 32

Loeys-Dietz Syndrome Type 2a (AAT5) malady

Genetic diseases category

Summaries for Loeys-Dietz Syndrome Type 2a

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46OMIM, 32MalaCards
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MalaCards: Loeys-Dietz Syndrome Type 2a, also known as loeys-dietz syndrome, type 2a, is related to loeys-dietz syndrome type 1a and familial thoracic aortic aneurysm and dissection. An important gene associated with Loeys-Dietz Syndrome Type 2a is TGFBR1 (transforming growth factor, beta receptor 1), and among its related pathways are Hippo signaling pathway and PEDF Induced Signaling. The compounds dihydrotestosterone and ribonucleic acid have been mentioned in the context of this disorder.

Description from OMIM:46 608967

Aliases & Classifications for Loeys-Dietz Syndrome Type 2a

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

loeys-dietz syndrome type 2a 42 22
loeys-dietz syndrome, type 2a 46 60
aortic aneurysm, familial thoracic 5 42
lds2a 42
aat5 42


Related Diseases for Loeys-Dietz Syndrome Type 2a

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17GeneCards, 18GeneDecks
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Diseases related to Loeys-Dietz Syndrome Type 2a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome type 1a10.2
2familial thoracic aortic aneurysm and dissection10.0
3loeys-dietz syndrome10.0TGFBR1
4hereditary hemorrhagic telangiectasia10.0TGFBR1
5marfan syndrome10.0TGFBR1
6aortic aneurysm10.0TGFBR1
7chondrosarcoma10.0TGFBR1
8bladder carcinoma10.0TGFBR1
9keloids10.0TGFBR1, TGFB2
10systemic scleroderma10.0TGFB2, TGFBR1
11pancreatic cancer10.0TGFB2, TGFBR1

Graphical network of diseases related to Loeys-Dietz Syndrome Type 2a:



Diseases related to loeys-dietz syndrome type 2a

Clinical Features for Loeys-Dietz Syndrome Type 2a

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46OMIM
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Clinical features from OMIM:

608967

Clinical synopsis from OMIM:

608967

Drugs & Therapeutics for Loeys-Dietz Syndrome Type 2a

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Loeys-Dietz Syndrome Type 2a

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome Type 2a

Search NIH Clinical Center for Loeys-Dietz Syndrome Type 2a

Search CenterWatch for Loeys-Dietz Syndrome Type 2a

Genetic Tests for Loeys-Dietz Syndrome Type 2a

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22GTR
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Genetic tests related to Loeys-Dietz Syndrome Type 2a:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome Type 2a22

Anatomical Context for Loeys-Dietz Syndrome Type 2a

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Animal Models for Loeys-Dietz Syndrome Type 2a or affiliated genes

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Publications for Loeys-Dietz Syndrome Type 2a

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Genetic Variations for Loeys-Dietz Syndrome Type 2a

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Loeys-Dietz Syndrome Type 2a:

62
id Symbol AA change Variation ID SNP ID
1TGFBR1p.Arg487ProVAR_022347
2TGFBR1p.Lys232GluVAR_029481
3TGFBR1p.Arg487GlnVAR_029484
4TGFBR1p.Arg487TrpVAR_029485

Expression for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Loeys-Dietz Syndrome Type 2a

Search GEO for disease gene expression data for Loeys-Dietz Syndrome Type 2a.

Pathways for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Sources:
29KEGG, 51QIAGEN, 52R&D Systems, 55SinoBiological, 12EMD Millipore, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Loeys-Dietz Syndrome Type 2a according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TGFBR1
2
Hide members
9.3TGFB2, TGFBR1
3
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9.3TGFB2, TGFBR1
49.3TGFB2, TGFBR1
59.3TGFB2, TGFBR1
69.3TGFB2, TGFBR1
79.3TGFB2, TGFBR1
89.3TGFB2, TGFBR1
99.3TGFB2, TGFBR1
10
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9.3TGFB2, TGFBR1
11
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9.3TGFB2, TGFBR1
12
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9.3TGFB2, TGFBR1
13
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9.3TGFB2, TGFBR1
149.3TGFB2, TGFBR1
159.3TGFB2, TGFBR1
169.3TGFB2, TGFBR1
179.3TGFB2, TGFBR1
189.3TGFBR1, TGFB2
199.3TGFBR1, TGFB2
20
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9.3TGFBR1, TGFB2
21
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9.3TGFBR1, TGFB2
229.3TGFBR1, TGFB2
23
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9.3TGFBR1, TGFB2
24
Cell cycle Cell cycle (generic schema)
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9.3TGFBR1, TGFB2

Compounds for genes affiliated with Loeys-Dietz Syndrome Type 2a

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Loeys-Dietz Syndrome Type 2a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone44 28 11 2412.3TGFB2, TGFBR1
2ribonucleic acid449.3TGFB2, TGFBR1
3tgf beta1449.2TGFB2, TGFBR1
4matrigel449.0TGFB2, TGFBR1

GO Terms for genes affiliated with Loeys-Dietz Syndrome Type 2a

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16Gene Ontology
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Biological processes related to Loeys-Dietz Syndrome Type 2a according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1pathway-restricted SMAD protein phosphorylationGO:0603899.6TGFB2, TGFBR1
2neuron fate commitmentGO:0486639.5TGFB2, TGFBR1
3epithelial to mesenchymal transitionGO:0018379.5TGFBR1, TGFB2
4collagen fibril organizationGO:0301999.5TGFB2, TGFBR1
5wound healingGO:0420609.4TGFB2, TGFBR1
6positive regulation of cell growthGO:0303079.4TGFBR1, TGFB2
7transforming growth factor beta receptor signaling pathwayGO:0071799.3TGFB2, TGFBR1
8angiogenesisGO:0015259.3TGFB2, TGFBR1
9cell cycle arrestGO:0070509.2TGFB2, TGFBR1
10heart developmentGO:0075079.0TGFB2, TGFBR1

Molecular functions related to Loeys-Dietz Syndrome Type 2a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:0051149.3TGFB2, TGFBR1

Products for genes affiliated with Loeys-Dietz Syndrome Type 2a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome Type 2a

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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