MCID: LYS001
MIFTS: 44

Loeys-Dietz Syndrome malady

Summaries for Loeys-Dietz Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Loeys-dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. signs and symptoms vary among individuals. this condition is inherited in an autosomal dominant manner. with variable clinical expression.this condition is called loeys-dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. individuals without these features are said to have loeys-dietz syndrome type 2. mutations in the tgfbr1 and the tgfbr2 gene have been found to cause both types of loeys-dietz syndrome. last updated: 5/12/2011

MalaCards: Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to marfan syndrome and aortic aneurysm. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (transforming growth factor, beta receptor II (70/80kDa)), and among its related pathways are mTOR Pathway and TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition). The compounds dihydrotestosterone and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and heart.

Genetics Home Reference:21 Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.

Description from OMIM:47 610380,609192,608967,610168

GeneReviews summary for loeys-dietz

Aliases & Classifications for Loeys-Dietz Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 47OMIM, 35MeSH
See all sources

Aliases & Descriptions:

loeys-dietz syndrome 8 19 43 20 22 21 10 61
loeys-dietz aortic aneurysm syndrome 19 43 21 61
furlong syndrome 43 61
aortic aneurysm syndrome, loeys-dietz type 43


External Ids:

Disease Ontology8 DOID:0050466
MeSH35 D055947

Related Diseases for Loeys-Dietz Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the loeys-dietz syndrome type 1a family:

loeys-dietz syndrome loeys-dietz syndrome type 2b
loeys-dietz syndrome type 2a loeys-dietz syndrome type 3
loeys-dietz syndrome type 1b loeys-dietz syndrome, type 4

Diseases related to Loeys-Dietz Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1marfan syndrome31.1TGFBR1, TGFBR2
2aortic aneurysm30.8TGFBR1, TGFBR2
3loeys-dietz syndrome type 1a10.7
4n syndrome10.7
5loeys-dietz syndrome type 310.7
6loeys-dietz syndrome type 2a10.7
7loeys-dietz syndrome type 2b10.6
8loeys-dietz syndrome type 1b10.6
9tgfbr1-related loeys-dietz syndrome10.6
10young syndrome10.5
11mass syndrome10.5
12marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
13tgfbr2-related loeys-dietz syndrome10.5
14intracranial aneurysm10.4
15arc syndrome10.4
16smad3-related loeys-dietz syndrome10.4
17tgfb2-related loeys-dietz syndrome10.4
18loeys-dietz syndrome, type 410.4
19bone fracture10.3
20type i ehlers-danlos syndrome10.3
21lens subluxation10.3
22arterial tortuosity syndrome10.3
23distal arthrogryposis10.3
24adrenoleukodystrophy10.3
25conn's syndrome10.3
26hypermobility syndrome10.3
27ehlers–danlos syndrome10.3
28ehlers–danlos syndrome, vascular type10.3
29familial thoracic aortic aneurysm and dissection10.3
30faces syndrome10.3
31goldberg-shprintzen megacolon syndrome10.3
32spontaneous coronary artery dissection10.3
33chronic pain10.3
34sleep apnea10.3
35hereditary hemorrhagic telangiectasia10.0TGFBR1
36thoracic aortic aneurysms and aortic dissections10.0TGFBR1, TGFBR2
37keloids10.0SMAD3, TGFBR1, TGFB2
38pancreatic cancer10.0TGFB2, TGFBR1, TGFBR2
39myeloid leukemia10.0DNMT1
40pulmonary fibrosis10.0SMAD3, TGFBR2, TGFB2
41systemic scleroderma10.0TGFB2, TGFBR1, SMAD3
42transitional cell carcinoma10.0TGFBR1, TGFBR2, DNMT1
43diabetic nephropathy10.0TGFBR1, TGFBR2, SMAD3
44lung cancer10.0DNMT1, SMAD3, TGFBR2, TGFBR1, TGFB2
45colon cancer10.0DNMT1, TGFBR2, TGFBR1, TGFB2
46squamous cell carcinoma10.0TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome:



Diseases related to loeys-dietz syndrome

Clinical Features for Loeys-Dietz Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

610380,609192,608967,610168

Drugs & Therapeutics for Loeys-Dietz Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Loeys-Dietz Syndrome

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome

Search NIH Clinical Center for Loeys-Dietz Syndrome

Search CenterWatch for Loeys-Dietz Syndrome

Genetic Tests for Loeys-Dietz Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Loeys-Dietz Syndrome:

id Genetic test Affiliating Genes
1 Loeys-dietz Syndrome20 22 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

33
Spinal cord, Brain, Heart, Skeletal muscle

Animal Models for Loeys-Dietz Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Loeys-Dietz Syndrome

Sources:
51PubMed
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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
2
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
3
Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways? (24355917)
2014
4
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
5
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
6
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
7
A patient with Loeys-Dietz syndrome treated with chemoradiotherapy for an oropharyngeal carcinoma. (24045763)
2013
8
Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. (24086486)
2013
9
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. (24220024)
2013
10
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. (24146167)
2013
11
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
12
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
13
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
14
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome. (22300218)
2012
15
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. (22488992)
2012
16
Bilateral popliteal artery aneurysms in a young man with Loeys-Dietz syndrome. (22406093)
2012
17
Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome. (22325833)
2012
18
Clinical features and genetic analysis of Korean patients with Loeys- Dietz syndrome. (22113417)
2012
19
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
20
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
21
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
22
Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review. (21792144)
2011
23
Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy. (21225386)
2011
24
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? (21267002)
2011
25
Bilateral lens subluxation in a patient with suspected Loeys-Dietz syndrome. (21478606)
2011
26
Expanding the skeletal phenotype of Loeys-Dietz syndrome. (21484991)
2011
27
Aggressive aortic replacement for Loeys-Dietz syndrome. (22199429)
2011
28
Multiple facial milia in patients with Loeys-Dietz syndrome. (20956634)
2011
29
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
30
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
31
The Loeys-Dietz syndrome: an update for the clinician. (20838339)
2010
32
Glue embolus complicating the endovascular treatment of a patient with Loeys-Dietz syndrome. (20655686)
2010
33
Two-Stage Total Aortic Replacement for Loeys-Dietz Syndrome. (20070434)
2010
34
High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome. (20512544)
2010
35
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (20681224)
2010
36
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. (19816028)
2009
37
Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy. (19907874)
2009
38
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). (18852674)
2009
39
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
40
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
41
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. (18070134)
2008
42
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. (18781618)
2008
43
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. (19006214)
2008
44
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
2007
45
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome. (17599521)
2007
46
Loeys-Dietz syndrome: MDCT angiography findings. (17579132)
2007
47
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. (17257922)
2007
48
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. (17470566)
2007
49
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. (16799921)
2006
50
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. (16283890)
2005

Genetic Variations for Loeys-Dietz Syndrome

Expression for genes affiliated with Loeys-Dietz Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Loeys-Dietz Syndrome

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

Pathways for genes affiliated with Loeys-Dietz Syndrome

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

Pathways related to Loeys-Dietz Syndrome according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2TGFBR2, TGFBR1
210.2TGFBR2, TGFBR1
3
Hide members
10.2TGFBR2, TGFBR1
4
Hide members
10.2TGFBR1, TGFBR2
510.2TGFBR1, TGFBR2
6
Hide members
10.2TGFBR1, TGFB2
7
Hide members
10.2TGFBR1, TGFB2
810.2TGFBR1, SMAD3
910.0TGFB2, TGFBR1, TGFBR2
10
Hide members
10.0TGFB2, TGFBR1, TGFBR2
11
Hide members
10.0TGFB2, TGFBR1, TGFBR2
1210.0TGFB2, TGFBR1, TGFBR2
1310.0TGFB2, TGFBR1, TGFBR2
1410.0TGFB2, TGFBR1, TGFBR2
15
Hide members
10.0TGFBR2, TGFBR1, TGFB2
16
Hide members
10.0TGFBR2, TGFBR1, TGFB2
1710.0TGFB2, TGFBR1, TGFBR2
1810.0TGFBR1, TGFBR2, SMAD3
19
Cytokine production by Th17 cells in CF (Mouse model)
10.0TGFBR1, TGFBR2, SMAD3
20
Hide members
10.0TGFBR1, TGFBR2, SMAD3
21
Transcription Androgen Receptor nuclear signaling
Hide members
10.0SMAD3, TGFBR2, TGFBR1
22
Development TGF-beta receptor signaling
Hide members
10.0SMAD3, TGFBR2, TGFBR1
2310.0SMAD3, TGFBR2, TGFBR1
2410.0SMAD3, TGFBR2, TGFBR1
259.9TGFB2, TGFBR1, TGFBR2, SMAD3
26
Hide members
9.9SMAD3, TGFBR2, TGFBR1, TGFB2
279.9SMAD3, TGFBR2, TGFBR1, TGFB2
28
Cell cycle Cell cycle (generic schema)
Hide members
9.9SMAD3, TGFBR2, TGFBR1, TGFB2
29
Hide members
9.9SMAD3, TGFBR2, TGFBR1, TGFB2
309.9TGFB2, TGFBR1, TGFBR2, SMAD3
319.9SMAD3, TGFBR2, TGFBR1, TGFB2
329.9SMAD3, TGFBR2, TGFBR1, TGFB2
339.9SMAD3, TGFBR2, TGFBR1, TGFB2

Compounds for genes affiliated with Loeys-Dietz Syndrome

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

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

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone45 29 11 2413.0TGFB2, TGFBR1, TGFBR2, SMAD3
2tgf beta1459.9SMAD3, TGFBR2, TGFBR1, TGFB2
3vitamin d459.7DNMT1, SMAD3, TGFBR2, TGFB2
4cycloheximide459.7TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1
5vegf459.7TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1
6oligonucleotide459.4DNMT1, SMAD3, TGFBR2, TGFBR1, TGFB2

GO Terms for genes affiliated with Loeys-Dietz Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Loeys-Dietz Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:07002210.2TGFBR1, TGFBR2
2receptor complexGO:0432359.7TGFBR1, TGFBR2, SMAD3

Biological processes related to Loeys-Dietz Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:07072310.4TGFBR1, TGFBR2
2regulation of transforming growth factor beta2 productionGO:03290910.4SMAD3, TGFB2
3positive regulation of epithelial cell migrationGO:01063410.3TGFB2, TGFBR2
4pathway-restricted SMAD protein phosphorylationGO:06038910.3TGFB2, TGFBR1, TGFBR2
5embryonic cranial skeleton morphogenesisGO:04870110.3SMAD3, TGFBR2, TGFBR1
6neuron fate commitmentGO:04866310.2TGFB2, TGFBR1
7negative regulation of transforming growth factor beta receptor signaling pathwayGO:03051210.2SMAD3, TGFBR2, TGFBR1
8wound healingGO:04206010.1TGFB2, TGFBR1, TGFBR2, SMAD3
9transforming growth factor beta receptor signaling pathwayGO:00717910.1TGFB2, TGFBR1, TGFBR2, SMAD3
10activation of protein kinase activityGO:03214710.1TGFB2, TGFBR2
11heart developmentGO:00750710.0TGFB2, TGFBR1, TGFBR2
12cell cycle arrestGO:00705010.0SMAD3, TGFBR1, TGFB2
13protein phosphorylationGO:00646810.0WNK4, TGFBR2, TGFBR1, TGFB2
14positive regulation of epithelial to mesenchymal transitionGO:0107189.9TGFB2, SMAD3

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

idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:00511410.3TGFB2, TGFBR1
2transmembrane receptor protein serine/threonine kinase activityGO:00467510.2TGFBR1, TGFBR2
3transforming growth factor beta-activated receptor activityGO:00502410.2TGFBR1, TGFBR2
4receptor signaling protein serine/threonine kinase activityGO:00470210.2TGFB2, TGFBR2
5transforming growth factor beta bindingGO:05043110.1TGFBR2, TGFBR1
6transforming growth factor beta receptor bindingGO:0051609.9SMAD3, TGFB2

Products for genes affiliated with Loeys-Dietz Syndrome

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Sources for Loeys-Dietz Syndrome

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