LDS
MCID: LYS001
MIFTS: 46

Loeys-Dietz Syndrome (LDS) malady

Summaries for Loeys-Dietz Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 bone, heart and brain.

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:46 610380,609192,608967,610168

GeneReviews summary for loeys-dietz

Aliases & Classifications for Loeys-Dietz Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 46OMIM, 34MeSH
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Aliases & Descriptions:

loeys-dietz syndrome 8 19 42 20 22 21 10 60
loeys-dietz aortic aneurysm syndrome 19 42 21 60
furlong syndrome 42 21 60
aortic aneurysm syndrome, loeys-dietz type 42
lds 21


External Ids:

Disease Ontology8 DOID:0050466
MeSH34 D055947

Related Diseases for Loeys-Dietz Syndrome

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1marfan syndrome31.1TGFBR1, TGFBR2
2aortic aneurysm30.8TGFBR1, TGFBR2
3lung cancer29.8DNMT1, SMAD3, TGFBR2, TGFBR1, TGFB2
4loeys-dietz syndrome type 1a10.7
5loeys-dietz syndrome type 310.7
6image syndrome10.6
7loeys-dietz syndrome type 2b10.6
8loeys-dietz syndrome type 2a10.6
9loeys-dietz syndrome type 1b10.6
10cerebritis10.6
11marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
12arterial tortuosity syndrome10.4
13intracranial aneurysm10.4
14tgfbr2-related loeys-dietz syndrome10.4
15tgfbr1-related loeys-dietz syndrome10.4
16smad3-related loeys-dietz syndrome10.4
17tgfb2-related loeys-dietz syndrome10.4
18loeys-dietz syndrome, type 410.4
19bone fracture10.3
20lens subluxation10.3
21distal arthrogryposis10.3
22adrenoleukodystrophy10.3
23carotid artery dissection10.3
24dissecting aortic aneurysm10.3
25hypermobility syndrome10.3
26ehlers-danlos syndrome10.3
27familial thoracic aortic aneurysm and dissection10.3
28goldberg-shprintzen megacolon syndrome10.3
29leukemia10.2
30acute leukemia10.2
31learning disability10.2
32lymphedema-distichiasis syndrome10.2
33legionaire disease10.1
34hereditary hemorrhagic telangiectasia10.0TGFBR1
35thoracic aortic aneurysms and aortic dissections10.0TGFBR1, TGFBR2
36keloids10.0SMAD3, TGFBR1, TGFB2
37pancreatic cancer10.0TGFB2, TGFBR1, TGFBR2
38myeloid leukemia10.0DNMT1
39pulmonary fibrosis10.0SMAD3, TGFBR2, TGFB2
40systemic scleroderma10.0TGFB2, TGFBR1, SMAD3
41transitional cell carcinoma10.0TGFBR1, TGFBR2, DNMT1
42diabetic nephropathy10.0TGFBR1, TGFBR2, SMAD3
43colon cancer10.0DNMT1, TGFBR2, TGFBR1, TGFB2
44squamous cell carcinoma10.0TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1
45attention deficit hyperactivity disorder9.9
46neurofibromatosis9.9
47renal agenesis9.9
48lymphocytic choriomeningitis9.9
49lennox-gastaut syndrome9.9
50fragile x syndrome9.9

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



Diseases related to loeys-dietz syndrome

Clinical Features for Loeys-Dietz Syndrome

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46OMIM
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Clinical features from OMIM:

610380,609192,608967,610168

Drugs & Therapeutics for Loeys-Dietz Syndrome

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5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

32
Bone, Heart, Brain, Eye, Spinal cord

Animal Models for Loeys-Dietz Syndrome or affiliated genes

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Publications for Loeys-Dietz Syndrome

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50PubMed
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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum. (24194458)
2014
2
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
3
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
4
Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. (24086486)
2013
5
First implantation of Gore Hybrid Vascular Graft in the right vertebral artery for cerebral debranching in a patient with Loeys-Dietz syndrome. (24239520)
2013
6
Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure. (23686861)
2013
7
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. (24146167)
2013
8
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. (24344637)
2013
9
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
10
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
11
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
12
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
13
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. (22488992)
2012
14
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome. (22489058)
2012
15
Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome. (22325833)
2012
16
Clinical features and genetic analysis of Korean patients with Loeys- Dietz syndrome. (22113417)
2012
17
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
18
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
19
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
20
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. (21949523)
2011
21
Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review. (21792144)
2011
22
Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy. (21225386)
2011
23
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? (21267002)
2011
24
Bilateral lens subluxation in a patient with suspected Loeys-Dietz syndrome. (21478606)
2011
25
Valve-sparing aortic root replacement in Loeys-Dietz syndrome. (21801912)
2011
26
Aggressive aortic replacement for Loeys-Dietz syndrome. (22199429)
2011
27
Multiple facial milia in patients with Loeys-Dietz syndrome. (20956634)
2011
28
Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report. (21561552)
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
Aortic decision making in Loeys-Dietz syndrome. (20304148)
2010
33
Glue embolus complicating the endovascular treatment of a patient with Loeys-Dietz syndrome. (20655686)
2010
34
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. (20813212)
2010
35
Two-Stage Total Aortic Replacement for Loeys-Dietz Syndrome. (20070434)
2010
36
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. (20358619)
2010
37
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
38
Loeys-Dietz syndrome. (19471917)
2009
39
Impaired systolic function in Loeys-Dietz syndrome: a novel cardiomyopathy? (19919997)
2009
40
Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy. (19907874)
2009
41
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. (19875893)
2009
42
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
43
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
44
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. (18070134)
2008
45
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
46
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
2007
47
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. (17470566)
2007
48
Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. (16981219)
2006
49
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
50
Loeys-Dietz Syndrome (20301312)
1993

Genetic Variations for Loeys-Dietz Syndrome

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Expression for genes affiliated with Loeys-Dietz Syndrome

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

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Pathways for genes affiliated with Loeys-Dietz Syndrome

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59Tocris Bioscience, 53Reactome, 51QIAGEN, 29KEGG, 55SinoBiological, 12EMD Millipore, 37NCBI BioSystems Database, 52R&D Systems, 4Cell Signaling Technology
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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
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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

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

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone44 28 11 2413.0TGFB2, TGFBR1, TGFBR2, SMAD3
2tgf beta1449.9SMAD3, TGFBR2, TGFBR1, TGFB2
3vitamin d449.7DNMT1, SMAD3, TGFBR2, TGFB2
4cycloheximide449.7TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1
5vegf449.7TGFB2, TGFBR1, TGFBR2, SMAD3, DNMT1
6oligonucleotide449.4DNMT1, SMAD3, TGFBR2, TGFBR1, TGFB2

GO Terms for genes affiliated with Loeys-Dietz Syndrome

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16Gene Ontology
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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

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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