LDS
MCID: LYS001
MIFTS: 54

Loeys-Dietz Syndrome (LDS) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Loeys-Dietz Syndrome

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 aneurysm and marfan syndrome. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (transforming growth factor, beta receptor II (70/80kDa)), and among its related pathways are ALK1 signaling events and Glypican 1 network. The compounds p005 and bleomycin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related mouse phenotypes are tumorigenesis and respiratory system.

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 610168,610380,609192,608967

GeneReviews summary for loeys-dietz

Aliases & Classifications for Loeys-Dietz Syndrome

About this section
Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 35MeSH, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

loeys-dietz syndrome 8 19 43 20 22 21 10 62
loeys-dietz aortic aneurysm syndrome 19 43 21 62
furlong syndrome 43 62
aortic aneurysm syndrome, loeys-dietz type 43
lds 21


External Ids:

Disease Ontology8 DOID:0050466
MeSH35 D055947

Related Diseases for Loeys-Dietz Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.4TGFBR2
2marfan syndrome31.1TGFBR2, TGFBR1
3aortic aneurysm30.5TGFBR1, TGFBR2
4lung cancer29.8TGFBR2, SMAD3, TGFBR1, TGFB2
5loeys-dietz syndrome type 310.7
6loeys-dietz syndrome, type 110.7
7loeys-dietz syndrome type 1b10.7
8loeys-dietz syndrome type 2a10.7
9cerebritis10.6
10loeys-dietz syndrome type 1a10.6
11loeys-dietz syndrome type 2b10.6
12marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
13intracranial aneurysm10.5
14tgfbr2-related loeys-dietz syndrome10.5
15tgfbr1-related loeys-dietz syndrome10.5
16smad3-related loeys-dietz syndrome10.5
17tgfb2-related loeys-dietz syndrome10.5
18loeys-dietz syndrome, type 410.5
19loeys-dietz syndrome, type 210.5
20obstructive sleep apnea10.3
21adrenoleukodystrophy10.3
22lens subluxation10.3
23distal arthrogryposis10.3
24congenital heart disease10.3
25ehlers-danlos syndrome10.3
26sleep apnea10.3
27familial thoracic aortic aneurysm and dissection10.3
28goldberg-shprintzen megacolon syndrome10.3
29spontaneous coronary artery dissection10.3
30cerebral aneurysms10.3
31leukemia10.3
32acute leukemia10.2
33learning disability10.2
34lymphedema-distichiasis syndrome10.2
35myelodysplastic syndromes10.2
36legionaire disease10.1
37hereditary hemorrhagic telangiectasia10.1TGFBR1
38thoracic aortic aneurysms and aortic dissections10.1TGFBR1, TGFBR2
39cleft palate10.0TGFBR2, TGFBR1
40proliferative vitreoretinopathy10.0TGFB2, TGFBR2
41transitional cell carcinoma10.0TGFBR2, TGFBR1
42pituitary adenoma10.0TGFBR1, TGFBR2
43cataract10.0TGFB2, TGFBR2
44hypertrophic scars10.0SMAD3, TGFBR2
45glomerulonephritis10.0TGFBR2, TGFBR1
46leiomyoma10.0TGFBR2, SMAD3
47familial adenomatous polyposis10.0TGFBR2, SMAD3
48pancreatic cancer10.0TGFB2, TGFBR2, TGFBR1
49endometrial carcinoma10.0TGFBR2, SMAD3
50ovarian cancer10.0TGFB2, TGFBR1, TGFBR2

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



Diseases related to loeys-dietz syndrome

Symptoms for Loeys-Dietz Syndrome

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

610168,610380,609192,608967

Drugs & Therapeutics for Loeys-Dietz Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Loeys-Dietz Syndrome

Search NIH Clinical Center for Loeys-Dietz Syndrome

Genetic Tests for Loeys-Dietz Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Loeys-Dietz Syndrome:

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

Anatomical Context for Loeys-Dietz Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

33
Heart, Brain, Eye, Bone, Spinal cord

Animal Models for Loeys-Dietz Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

Publications for Loeys-Dietz Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders. (24333532)
2014
2
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
3
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
4
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
5
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
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
First implantation of Gore Hybrid Vascular Graft in the right vertebral artery for cerebral debranching in a patient with Loeys-Dietz syndrome. (24239520)
2013
10
Loeys-Dietz syndrome with bilateral radial head dislocations: a case report. (24014798)
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
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
14
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
15
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
16
Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. (22193238)
2012
17
Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome. (22627960)
2012
18
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. (22488992)
2012
19
Valve-sparing replacement of the ascending aorta and aortic arch in a child with Loeys-Dietz syndrome. (22228852)
2012
20
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. (22414221)
2012
21
Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome. (21835579)
2012
22
Bilateral popliteal artery aneurysms in a young man with Loeys-Dietz syndrome. (22406093)
2012
23
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
24
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
25
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
26
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
27
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
28
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. (21949523)
2011
29
Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review. (21792144)
2011
30
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
31
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
32
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
33
Musculoskeletal findings of Loeys-Dietz syndrome. (20686062)
2010
34
The Loeys-Dietz syndrome: an update for the clinician. (20838339)
2010
35
Aortic decision making in Loeys-Dietz syndrome. (20304148)
2010
36
Aortic root replacement with re-implantation technique in an infant with Loeys-Dietz syndrome and a bicuspid aortic valve. (19784694)
2010
37
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
38
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
39
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
2009
40
Loeys-Dietz syndrome. (19471917)
2009
41
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. (19816028)
2009
42
Impaired systolic function in Loeys-Dietz syndrome: a novel cardiomyopathy? (19919997)
2009
43
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
44
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
45
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. (18978651)
2008
46
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
2007
47
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome. (17599521)
2007
48
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. (16799921)
2006
49
Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. (16981219)
2006
50
Loeys-Dietz Syndrome (20301312)
1993

Variations for Loeys-Dietz Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Loeys-Dietz Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1TGFBR1NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288

Expression for genes affiliated with Loeys-Dietz Syndrome

About this section
Sources:
2BioGPS, 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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 61Tocris Bioscience, 5Cell Signaling Technology, 60Thomson Reuters, 30KEGG, 54R&D Systems, 55Reactome, 57SinoBiological
See all sources

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

(show top 50)    (show all 53)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ALK1 pathway38
9.5TGFBR1, TGFBR2
29.5TGFBR1, TGFBR2
39.5TGFBR1, TGFBR2
4
Show member pathways
9.5TGFBR2, TGFBR1
5
Show member pathways
9.5TGFBR1, TGFBR2
69.5TGFBR2, TGFBR1
79.3TGFBR1, TGFB2
89.3TGFB2, TGFBR1
99.1TGFBR1, SMAD3
109.1TGFBR1, SMAD3
11
Show member pathways
Cell cycle38
9.0SMAD3, TGFB2
12
Show member pathways
8.9TGFBR1, TGFBR2, TGFB2
13
Show member pathways
8.9TGFBR2, TGFBR1, TGFB2
14
Show member pathways
8.9TGFBR2, TGFBR1, TGFB2
158.9TGFBR2, TGFBR1, TGFB2
168.9TGFBR1, TGFBR2, TGFB2
17
Show member pathways
MAPK signaling pathway38
8.9TGFBR1, TGFBR2, TGFB2
18
Show member pathways
8.9TGFBR1, TGFBR2, TGFB2
19
Show member pathways
8.9TGFBR2, TGFBR1, TGFB2
20
Show member pathways
8.9TGFB2, TGFBR2, TGFBR1
218.9TGFBR2, TGFB2, TGFBR1
228.9TGFB2, TGFBR1, TGFBR2
238.9TGFB2, TGFBR2, TGFBR1
24
Show member pathways
8.9TGFB2, TGFBR2, TGFBR1
25
Show member pathways
8.9TGFB2, TGFBR1, TGFBR2
26
Show member pathways
8.9TGFB2, TGFBR1, TGFBR2
278.7TGFBR2, SMAD3, TGFBR1
288.7TGFBR2, SMAD3, TGFBR1
29
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
308.7SMAD3, TGFBR1, TGFBR2
318.7SMAD3, TGFBR1, TGFBR2
32
Show member pathways
8.7TGFBR1, SMAD3, TGFBR2
33
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
34
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.7TGFBR1, SMAD3, TGFBR2
35
Show member pathways
8.4SLC2A10, TGFBR1, TGFB2, TGFBR2
36
Show member pathways
8.1TGFBR2, TGFB2, TGFBR1, SMAD3
378.1TGFB2, TGFBR2, SMAD3, TGFBR1
38
Show member pathways
8.1SMAD3, TGFBR2, TGFB2, TGFBR1
39
Show member pathways
8.1TGFBR1, SMAD3, TGFB2, TGFBR2
40
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
8.1TGFB2, SMAD3, TGFBR2, TGFBR1
41
Show member pathways
Signal transduction PTEN pathway60
8.1TGFBR1, TGFBR2, TGFB2, SMAD3
428.1TGFBR2, TGFB2, TGFBR1, SMAD3
438.1SMAD3, TGFBR1, TGFBR2, TGFB2
448.1TGFB2, TGFBR2, SMAD3, TGFBR1
458.1SMAD3, TGFBR1, TGFBR2, TGFB2
468.1TGFB2, TGFBR2, TGFBR1, SMAD3
47
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.1SMAD3, TGFB2, TGFBR2, TGFBR1
488.1TGFBR1, TGFBR2, TGFB2, SMAD3
498.1SMAD3, TGFBR2, TGFBR1, TGFB2
50
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.1SMAD3, TGFB2, TGFBR1, TGFBR2

Compounds for genes affiliated with Loeys-Dietz Syndrome

About this section
Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1p005459.6TGFBR2, TGFB2
2bleomycin45 1110.3SMAD3, TGFBR2
3ribonucleic acid459.2TGFBR2, TGFBR1, TGFB2
4mannose 6-phosphate45 2410.1TGFB2, TGFBR2
5progesterone45 29 61 24 1113.1TGFBR2, TGFB2, TGFBR1
61,25 dihydroxy vitamin d3459.0SMAD3, TGFB2
7dexamethasone45 51 29 1112.0TGFB2, TGFBR2, TGFBR1
8ly294002458.9TGFBR2, SMAD3, TGFBR1
9retinoic acid45 249.9TGFBR1, TGFBR2, TGFB2
10vitamin d458.8TGFB2, TGFBR2, SMAD3
11matrigel458.8TGFB2, TGFBR1, SMAD3
12threonine458.7TGFBR2, TGFBR1, SMAD3
13alanine458.6SMAD3, TGFBR1, TGFBR2
14dihydrotestosterone45 29 24 1111.4TGFBR2, SMAD3, TGFBR1, TGFB2
15tgf beta1458.4TGFBR1, TGFBR2, SMAD3, TGFB2
16cycloheximide458.4TGFB2, TGFBR2, TGFBR1, SMAD3
17oligonucleotide458.4TGFB2, SMAD3, TGFBR1, TGFBR2
18vegf458.4TGFBR2, TGFBR1, TGFB2, SMAD3
19nitric oxide45 24 1110.4TGFB2, TGFBR2, TGFBR1, SMAD3
20estrogen458.4TGFB2, TGFBR2, TGFBR1, SMAD3
21serine458.3SMAD3, TGFB2, TGFBR2, TGFBR1
22tyrosine458.3TGFB2, TGFBR2, SMAD3, TGFBR1
23glucose457.9TGFBR1, SLC2A10, SMAD3, TGFBR2, TGFB2

GO Terms for genes affiliated with Loeys-Dietz Syndrome

About this section
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:0700229.2TGFBR2, TGFBR1
2receptor complexGO:0432358.7TGFBR2, TGFBR1, SMAD3

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:0707239.8TGFBR2, TGFBR1
2lens development in camera-type eyeGO:0020889.8TGFBR2, TGFBR1
3peptidyl-threonine phosphorylationGO:0181079.7TGFBR2, TGFBR1
4positive regulation of epithelial cell migrationGO:0106349.7TGFBR2, TGFB2
5activation of protein kinase activityGO:0321479.7TGFB2, TGFBR2
6neuron fate commitmentGO:0486639.6TGFB2, TGFBR1
7peptidyl-serine phosphorylationGO:0181059.6TGFBR2, TGFBR1
8epithelial to mesenchymal transitionGO:0018379.6TGFB2, TGFBR1
9collagen fibril organizationGO:0301999.5TGFBR1, TGFB2
10palate developmentGO:0600219.5TGFBR1, TGFBR2
11regulation of transforming growth factor beta2 productionGO:0329099.4TGFB2, SMAD3
12positive regulation of epithelial to mesenchymal transitionGO:0107189.3TGFB2, SMAD3
13pathway-restricted SMAD protein phosphorylationGO:0603899.2TGFB2, TGFBR2, TGFBR1
14extrinsic apoptotic signaling pathwayGO:0971919.2TGFB2, SMAD3
15positive regulation of cell growthGO:0303079.2TGFB2, TGFBR1
16heart developmentGO:0075079.2TGFBR1, TGFBR2, TGFB2
17protein phosphorylationGO:0064689.1TGFBR1, TGFBR2, TGFB2
18cell-cell junction organizationGO:0452169.1TGFB2, SMAD3
19embryonic cranial skeleton morphogenesisGO:0487019.0TGFBR2, TGFBR1, SMAD3
20negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.0SMAD3, TGFBR1, TGFBR2
21response to hypoxiaGO:0016669.0TGFB2, SMAD3
22positive regulation of cell proliferationGO:0082849.0TGFB2, TGFBR2, TGFBR1
23in utero embryonic developmentGO:0017019.0TGFBR2, TGFBR1, SMAD3
24cell cycle arrestGO:0070508.8TGFB2, TGFBR1, SMAD3
25negative regulation of cell growthGO:0303088.7TGFB2, SMAD3
26wound healingGO:0420608.4TGFB2, TGFBR2, TGFBR1, SMAD3
27transforming growth factor beta receptor signaling pathwayGO:0071798.4SMAD3, TGFBR1, TGFBR2, TGFB2

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:0050249.5TGFBR2, TGFBR1
2SMAD bindingGO:0463329.5TGFBR2, TGFBR1
3type II transforming growth factor beta receptor bindingGO:0051149.4TGFB2, TGFBR1
4transforming growth factor beta bindingGO:0504319.4TGFBR1, TGFBR2
5receptor signaling protein serine/threonine kinase activityGO:0047029.1TGFB2, TGFBR2
6transforming growth factor beta receptor bindingGO:0051609.1TGFB2, SMAD3

Products for genes affiliated with Loeys-Dietz Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet