LDS
MCID: LYS001
MIFTS: 46

Loeys-Dietz Syndrome (LDS) malady

Summaries for Loeys-Dietz Syndrome

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 eye.

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

About this section
Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 46OMIM, 34MeSH
See all sources

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

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 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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

610380,609192,608967,610168

Drugs & Therapeutics for Loeys-Dietz Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

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:
32MalaCards
See all sources

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

32
Bone, Heart, Eye, Brain, Spinal cord

Animal Models for Loeys-Dietz Syndrome or affiliated genes

About this section

Publications for Loeys-Dietz Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 100)
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
Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways? (24355917)
2014
6
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24431245)
2014
7
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
8
A patient with Loeys-Dietz syndrome treated with chemoradiotherapy for an oropharyngeal carcinoma. (24045763)
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
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. (23824657)
2013
11
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
12
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
13
Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome. (22627960)
2012
14
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome. (22300218)
2012
15
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. (22414221)
2012
16
Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome. (21835579)
2012
17
Bilateral popliteal artery aneurysms in a young man with Loeys-Dietz syndrome. (22406093)
2012
18
Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome. (22921234)
2012
19
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. (22095581)
2012
20
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
21
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
22
Total aortic replacement in Loeys-Dietz syndrome. (21443730)
2011
23
Expanding the skeletal phenotype of Loeys-Dietz syndrome. (21484991)
2011
24
Treatment of chronic chest wall pain in a patient with Loeys-Dietz syndrome using spinal cord stimulation. (21992158)
2011
25
Aggressive aortic replacement for Loeys-Dietz syndrome. (22199429)
2011
26
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
27
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
28
Musculoskeletal findings of Loeys-Dietz syndrome. (20686062)
2010
29
The Loeys-Dietz syndrome: an update for the clinician. (20838339)
2010
30
Aortic root replacement with re-implantation technique in an infant with Loeys-Dietz syndrome and a bicuspid aortic valve. (19784694)
2010
31
Glue embolus complicating the endovascular treatment of a patient with Loeys-Dietz syndrome. (20655686)
2010
32
High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome. (20512544)
2010
33
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (20681224)
2010
34
Magnetic resonance imaging findings in Loeys-Dietz syndrome. (20199709)
2010
35
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
2009
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
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. (19883511)
2009
39
Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome. (19464442)
2009
40
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). (18852674)
2009
41
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
42
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
43
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. (18978651)
2008
44
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. (19006214)
2008
45
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
2007
46
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome. (17599521)
2007
47
Loeys-Dietz syndrome: MDCT angiography findings. (17579132)
2007
48
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. (17257922)
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

About this section

Expression for genes affiliated with Loeys-Dietz Syndrome

About this section
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

About this section
Sources:
59Tocris Bioscience, 53Reactome, 51QIAGEN, 29KEGG, 55SinoBiological, 12EMD Millipore, 37NCBI BioSystems Database, 52R&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

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

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

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: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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Loeys-Dietz Syndrome

About this section
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