LDS
MCID: LYS001
MIFTS: 57

Loeys-Dietz Syndrome (LDS) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Loeys-Dietz Syndrome

About this section


Fully expand 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 based summary: 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 mTOR Pathway. The compounds taad and p005 have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related mouse phenotypes are muscle and craniofacial.

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.

Descriptions from OMIM:46 613795, 610380, 610168, 614816, 608967 609192 more

GeneReviews summary for loeys-dietz

Aliases & Classifications for Loeys-Dietz Syndrome

About this section

Loeys-Dietz Syndrome, Aliases & Descriptions:

Name: Loeys-Dietz Syndrome 8 19 42 20 22 21 10 62
Loeys-Dietz Aortic Aneurysm Syndrome 19 42 21 62
Furlong Syndrome 42 62
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 42
Lds 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050466
MeSH34 D055947

Related Diseases for Loeys-Dietz Syndrome

About this section

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.8FBN1, TGFBR2
2marfan syndrome31.3FBN1, TGFBR1, TGFBR2
3aortic aneurysm30.8TGFBR2, TGFBR1, FBN1
4thoracic aortic aneurysm30.8TGFBR2, FBN1
5lung cancer29.2DNMT1, SMAD3, TGFB2, TGFBR2, TGFBR1
6liver cancer28.9SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
7loeys-dietz syndrome type 310.8
8loeys-dietz syndrome, type 110.7
9cerebritis10.7
10loeys-dietz syndrome type 1b10.7
11loeys-dietz syndrome type 2a10.6
12loeys-dietz syndrome type 1a10.6
13loeys-dietz syndrome type 2b10.6
14cerebral aneurysms10.6
15loeys-dietz syndrome, type 410.6
16intracranial aneurysm10.5
17marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.5
18tgfbr2-related loeys-dietz syndrome10.5
19tgfbr1-related loeys-dietz syndrome10.5
20smad3-related loeys-dietz syndrome10.5
21tgfb2-related loeys-dietz syndrome10.5
22loeys-dietz syndrome, type 210.5
23telangiectasia, hereditary hemorrhagic, type 510.4TGFBR1
24adrenoleukodystrophy10.3
25obstructive sleep apnea10.3
26distal arthrogryposis10.3
27lens subluxation10.3
28congenital heart disease10.3
29ehlers-danlos syndrome10.3
30retinitis10.3
31sleep apnea10.3
32familial thoracic aortic aneurysm and dissection10.3
33goldberg-shprintzen megacolon syndrome10.3
34spontaneous coronary artery dissection10.3
35thoracic aortic aneurysms and aortic dissections10.3TGFBR1, TGFBR2
36leukemia10.3
37proliferative vitreoretinopathy10.2TGFB2, TGFBR2
38telangiectasis10.2FBN1, TGFBR1
39cleft palate10.2TGFBR2, TGFBR1
40acute leukemia10.2
41myelodysplastic syndromes10.2
42learning disability10.2
43lymphedema-distichiasis syndrome10.2
44bullous keratopathy10.2TGFB2, FBN1
45connective tissue disease10.2TGFBR2, FBN1
46leiomyoma10.1SMAD3, TGFBR2
47legionnaires' disease10.1
48cataract10.1TGFB2, TGFBR2
49pancreatic cancer10.1TGFBR1, TGFBR2, TGFB2
50diabetic nephropathy10.0TGFBR2, TGFBR1, SMAD3

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


Clinical features from OMIM:

613795,610380,610168,614816,608967,609192

Drugs & Therapeutics for Loeys-Dietz Syndrome

About this section

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

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

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

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8FBN1, TGFBR1, TGFB2, TGFBR2
2MP:00053828.8SMAD3, FBN1, TGFBR2, TGFB2
3MP:00053798.6SMAD3, TGFBR2, TGFB2, FBN1
4MP:00020068.6DNMT1, TGFBR2, TGFBR1, SMAD3
5MP:00053678.5SMAD3, TGFB2, SLC2A10, FBN1
6MP:00053908.4TGFB2, TGFBR2, TGFBR1, SMAD3, FBN1
7MP:00053818.4TGFB2, SMAD3, TGFBR2, DNMT1
8MP:00053888.4TGFB2, FBN1, TGFBR1, TGFBR2, SLC2A10
9MP:00053898.2DNMT1, SMAD3, FBN1, TGFB2
10MP:00107718.1DNMT1, FBN1, SMAD3, TGFBR1
11MP:00053767.9TGFB2, SMAD3, FBN1, TGFBR2, TGFBR1
12MP:00053857.9SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, SLC2A10
13MP:00053807.7TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3, DNMT1
14MP:00053847.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
15MP:00036317.6TGFBR1, DNMT1, TGFB2, TGFBR2, FBN1, SMAD3
16MP:00053787.6TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3, DNMT1
17MP:00107687.6DNMT1, TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3
18MP:00053977.1DNMT1, SLC2A10, SMAD3, FBN1, TGFBR1, TGFBR2
19MP:00053877.1DNMT1, SMAD3, FBN1, TGFBR1, TGFB2, TGFBR2

Publications for Loeys-Dietz Syndrome

About this section

Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 117)
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
Prenatal Diagnosis of Loeys-Dietz Syndrome. (25140493)
2014
5
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
6
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
7
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. (25163805)
2014
8
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
9
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. (25116393)
2014
10
Pulmonary artery rupture after bilateral pulmonary artery banding in a neonate with Loeys-Dietz syndrome and an interrupted aortic arch complex: report of a case. (24817126)
2014
11
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
12
Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. (24792536)
2014
13
Curative reconstruction of a cerebral aneurysm by flow diversion with the Pipeline embolisation device in a patient with Loeys-Dietz syndrome. (25323276)
2014
14
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. (24798638)
2014
15
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
16
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
17
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
18
A patient with Loeys-Dietz syndrome treated with chemoradiotherapy for an oropharyngeal carcinoma. (24045763)
2013
19
Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. (24086486)
2013
20
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
21
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
22
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
23
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
24
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
25
Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. (22193238)
2012
26
Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome. (22627960)
2012
27
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
28
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
29
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
30
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
31
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
32
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. (21949523)
2011
33
Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review. (21792144)
2011
34
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
35
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
36
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
37
Musculoskeletal findings of Loeys-Dietz syndrome. (20686062)
2010
38
The Loeys-Dietz syndrome: an update for the clinician. (20838339)
2010
39
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
40
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
41
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
2009
42
Loeys-Dietz syndrome. (19471917)
2009
43
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. (19816028)
2009
44
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
45
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
46
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. (18978651)
2008
47
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
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

Clinvar genetic disease variations for Loeys-Dietz Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TGFBR1NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantLikely pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288

Expression for genes affiliated with Loeys-Dietz Syndrome

About this section
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

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

(show all 50)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ALK1 pathway37
9.7TGFBR1, TGFBR2
2
Show member pathways
9.7TGFBR1, TGFBR2
39.7TGFBR1, TGFBR2
49.7TGFBR2, TGFBR1
59.6TGFBR1, TGFB2
69.6TGFB2, TGFBR1
79.5SMAD3, TGFBR1
89.5TGFBR1, SMAD3
9
Show member pathways
9.5FBN1, TGFB2
109.2TGFBR1, TGFBR2, TGFB2
119.2TGFB2, TGFBR2, TGFBR1
129.2TGFB2, TGFBR1, TGFBR2
13
Show member pathways
9.2TGFBR1, TGFB2, TGFBR2
14
Show member pathways
9.2TGFBR1, TGFB2, TGFBR2
159.2TGFB2, TGFBR2, TGFBR1
16
Show member pathways
9.2TGFBR1, TGFBR2, TGFB2
17
Show member pathways
9.2TGFBR2, TGFBR1, TGFB2
189.2TGFBR2, TGFB2, TGFBR1
19
Show member pathways
9.2TGFBR2, TGFBR1, TGFB2
20
Show member pathways
MAPK signaling pathway37
9.2TGFBR2, TGFB2, TGFBR1
21
Show member pathways
9.2TGFBR2, TGFB2, TGFBR1
22
Show member pathways
9.2TGFBR2, TGFB2, TGFBR1
239.2DNMT1, TGFB2
24
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.2SMAD3, TGFBR2, TGFBR1
25
Show member pathways
9.2SMAD3, TGFBR2, TGFBR1
269.2TGFBR1, SMAD3, TGFBR2
279.2TGFBR1, SMAD3, TGFBR2
289.2SMAD3, TGFBR1, TGFBR2
29
Show member pathways
9.2SMAD3, TGFBR1, TGFBR2
309.2TGFBR2, SMAD3, TGFBR1
31
Show member pathways
9.2TGFBR2, SMAD3, TGFBR1
32
Show member pathways
9.1TGFBR1, TGFB2, FBN1
33
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
8.7TGFBR1, TGFBR2, TGFB2, SMAD3
348.7TGFB2, TGFBR1, TGFBR2, SMAD3
358.7SMAD3, TGFB2, TGFBR1, TGFBR2
368.7TGFB2, TGFBR2, SMAD3, TGFBR1
37
Show member pathways
8.7TGFB2, SMAD3, TGFBR2, TGFBR1
38
Show member pathways
8.7TGFB2, TGFBR2, TGFBR1, SMAD3
398.7SMAD3, TGFBR1, TGFBR2, TGFB2
408.7SMAD3, TGFBR1, TGFBR2, TGFB2
41
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
8.7TGFB2, TGFBR1, TGFBR2, SMAD3
428.7SMAD3, TGFB2, TGFBR1, TGFBR2
438.7SMAD3, TGFBR2, TGFB2, TGFBR1
44
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
8.7TGFBR2, SMAD3, TGFBR1, TGFB2
458.7TGFBR2, SMAD3, TGFBR1, TGFB2
46
Show member pathways
8.7TGFBR2, TGFBR1, SMAD3, TGFB2
47
Show member pathways
Signal transduction PTEN pathway60
8.7TGFBR2, SMAD3, TGFBR1, TGFB2
48
Show member pathways
8.7FBN1, TGFBR1, TGFBR2, TGFB2
49
Show member pathways
8.7TGFBR1, TGFB2, TGFBR2, FBN1
50
Show member pathways
8.6SLC2A10, TGFBR1, TGFB2, TGFBR2

Compounds for genes affiliated with Loeys-Dietz Syndrome

About this section

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

(show all 29)
idCompoundScoreTop Affiliating Genes
1taad449.9TGFBR2, FBN1
2p005449.8TGFBR2, TGFB2
3ribonucleic acid449.5TGFBR2, TGFB2, TGFBR1
4phosphorothioate449.4SMAD3, DNMT1
5matrigel449.4SMAD3, TGFBR1, TGFB2
6ly294002449.3TGFBR1, TGFBR2, SMAD3
7bleomycin44 1110.3SMAD3, TGFBR2
8dihydrotestosterone44 28 24 1112.1SMAD3, TGFBR1, TGFBR2, TGFB2
9tamoxifen44 50 28 1112.0TGFB2, TGFBR2, DNMT1
10heparin44 28 24 1112.0TGFB2, TGFBR1, FBN1
11alanine448.9TGFBR1, TGFBR2, SMAD3, FBN1
12genistein44 28 61 2 24 1113.9DNMT1, TGFB2, TGFBR1
13steroid448.8TGFBR1, DNMT1, TGFB2
14thymidine44 249.7DNMT1, TGFB2, SMAD3
15lysine448.7DNMT1, FBN1, SMAD3
16glutamate448.6TGFBR2, FBN1, TGFB2, DNMT1
17tgf beta1448.6TGFBR2, TGFBR1, FBN1, SMAD3, TGFB2
18cysteine448.5DNMT1, FBN1, TGFBR2, TGFB2
19glucose448.4TGFBR2, TGFBR1, TGFB2, SLC2A10, SMAD3
20cycloheximide448.3SMAD3, TGFBR2, TGFB2, DNMT1, TGFBR1
21progesterone44 28 61 24 1112.3TGFB2, FBN1, TGFBR1, DNMT1, TGFBR2
22oligonucleotide448.2SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
23vegf448.2DNMT1, TGFBR1, TGFBR2, SMAD3, TGFB2
24nitric oxide44 24 1110.2DNMT1, TGFB2, TGFBR2, SMAD3, TGFBR1
25retinoic acid44 249.2TGFBR2, TGFBR1, DNMT1, TGFB2, FBN1
26vitamin d448.2TGFBR2, FBN1, SMAD3, DNMT1, TGFB2
27estrogen447.7FBN1, DNMT1, SMAD3, TGFB2, TGFBR2, TGFBR1
28serine447.7DNMT1, TGFBR2, TGFBR1, FBN1, SMAD3, TGFB2
29tyrosine447.7SMAD3, FBN1, DNMT1, TGFB2, TGFBR2, TGFBR1

GO Terms for genes affiliated with Loeys-Dietz Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.4TGFBR2, TGFBR1
2receptor complexGO:0432359.2TGFBR2, TGFBR1, SMAD3

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:07072310.0TGFBR1, TGFBR2
2lens development in camera-type eyeGO:00208810.0TGFBR2, TGFBR1
3positive regulation of epithelial cell migrationGO:0106349.9TGFB2, TGFBR2
4peptidyl-threonine phosphorylationGO:0181079.9TGFBR2, TGFBR1
5neuron fate commitmentGO:0486639.9TGFB2, TGFBR1
6activation of protein kinase activityGO:0321479.9TGFB2, TGFBR2
7regulation of transforming growth factor beta2 productionGO:0329099.8TGFB2, SMAD3
8epithelial to mesenchymal transitionGO:0018379.8TGFB2, TGFBR1
9collagen fibril organizationGO:0301999.8TGFB2, TGFBR1
10positive regulation of epithelial to mesenchymal transitionGO:0107189.8SMAD3, TGFB2
11extrinsic apoptotic signaling pathwayGO:0971919.7TGFB2, SMAD3
12peptidyl-serine phosphorylationGO:0181059.7TGFBR1, TGFBR2
13pathway-restricted SMAD protein phosphorylationGO:0603899.6TGFB2, TGFBR2, TGFBR1
14palate developmentGO:0600219.6TGFBR2, TGFBR1
15cell-cell junction organizationGO:0452169.6SMAD3, TGFB2
16kidney developmentGO:0018229.5TGFBR1, FBN1
17embryonic cranial skeleton morphogenesisGO:0487019.5SMAD3, TGFBR1, TGFBR2
18negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.5TGFBR2, TGFBR1, SMAD3
19in utero embryonic developmentGO:0017019.5SMAD3, TGFBR1, TGFBR2
20protein phosphorylationGO:0064689.4TGFBR1, TGFBR2, TGFB2
21cell cycle arrestGO:0070509.4TGFB2, TGFBR1, SMAD3
22positive regulation of cell proliferationGO:0082849.3TGFB2, TGFBR2, TGFBR1
23positive regulation of cell growthGO:0303079.3TGFB2, TGFBR1
24wound healingGO:0420609.1TGFB2, TGFBR2, TGFBR1, SMAD3
25transforming growth factor beta receptor signaling pathwayGO:0071799.1SMAD3, TGFBR1, TGFBR2, TGFB2
26heart developmentGO:0075079.1TGFB2, TGFBR2, TGFBR1, FBN1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:0051149.8TGFB2, TGFBR1
2transforming growth factor beta-activated receptor activityGO:0050249.8TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:0504319.7TGFBR2, TGFBR1
4transforming growth factor beta receptor bindingGO:0051609.6TGFB2, SMAD3
5receptor signaling protein serine/threonine kinase activityGO:0047029.5TGFBR2, TGFB2
6SMAD bindingGO:0463329.4TGFBR2, TGFBR1
7protein bindingGO:0055157.4DNMT1, TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3

Products for genes affiliated with Loeys-Dietz Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet