AAT5
MCID: LYS007
MIFTS: 24

Loeys-Dietz Syndrome Type 2a (AAT5) malady

Immune, Genetic categories

Summaries for Loeys-Dietz Syndrome Type 2a

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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:47 608967

Aliases & Classifications for Loeys-Dietz Syndrome Type 2a

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 31LifeMap Discovery™, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

loeys-dietz syndrome type 2a 43 22 31
loeys-dietz syndrome, type 2a 47 61
aortic aneurysm, familial thoracic 5 43
lds2a 43
aat5 43


Related Diseases for Loeys-Dietz Syndrome Type 2a

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608967

Clinical synopsis from OMIM:

608967

Drugs & Therapeutics for Loeys-Dietz Syndrome Type 2a

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

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

Sources:
22GTR
See all sources

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

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Loeys-Dietz Syndrome Type 2a

Genetic Variations for Loeys-Dietz Syndrome Type 2a

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Loeys-Dietz Syndrome Type 2a:

63
id Symbol AA change Variation SNP ID
1TGFBR1p.Arg487ProVAR_022347
2TGFBR1p.Lys232GluVAR_029481
3TGFBR1p.Arg487GlnVAR_029484
4TGFBR1p.Arg487TrpVAR_029485

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

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

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

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
Hide members
9.3TGFB2, TGFBR1
49.3TGFB2, TGFBR1
59.3TGFB2, TGFBR1
69.3TGFB2, TGFBR1
79.3TGFB2, TGFBR1
89.3TGFB2, TGFBR1
99.3TGFB2, TGFBR1
10
Hide members
9.3TGFB2, TGFBR1
11
Hide members
9.3TGFB2, TGFBR1
12
Hide members
9.3TGFB2, TGFBR1
13
Hide members
9.3TGFB2, TGFBR1
149.3TGFB2, TGFBR1
159.3TGFB2, TGFBR1
169.3TGFB2, TGFBR1
179.3TGFB2, TGFBR1
189.3TGFBR1, TGFB2
199.3TGFBR1, TGFB2
20
Hide members
9.3TGFBR1, TGFB2
21
Hide members
9.3TGFBR1, TGFB2
229.3TGFBR1, TGFB2
23
Hide members
9.3TGFBR1, TGFB2
24
Cell cycle Cell cycle (generic schema)
Hide members
9.3TGFBR1, TGFB2

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

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

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

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone45 29 11 2412.3TGFB2, TGFBR1
2ribonucleic acid459.3TGFB2, TGFBR1
3tgf beta1459.2TGFB2, TGFBR1
4matrigel459.0TGFB2, TGFBR1

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome Type 2a

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