MCID: LYS001
MIFTS: 47

Loeys-Dietz Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Loeys-Dietz Syndrome

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Loeys-Dietz Syndrome, Aliases & Descriptions:

Name: Loeys-Dietz Syndrome 9 19 41 20 21 11 22 60
Loeys-Dietz Aortic Aneurysm Syndrome 19 41 21 60
Furlong Syndrome 41 60
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 41
Lds 21


Classifications:

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


External Ids:

Disease Ontology9 DOID:0050466
MeSH33 D055947

Summaries for Loeys-Dietz Syndrome

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NIH Rare Diseases:41 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 Glypican 1 network and ALK1 signaling events. 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.

GeneReviews summary for loeys-dietz

Related Diseases for Loeys-Dietz Syndrome

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

(show top 50)    (show all 94)
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
6loeys-dietz syndrome, type 310.8
7loeys-dietz syndrome, type 410.7
8loeys-dietz syndrome, type 110.7
9cerebritis10.7
10loeys-dietz syndrome type 1b10.7
11loeys-dietz syndrome type 2b10.7
12loeys-dietz syndrome type 2a10.7
13loeys-dietz syndrome, type 210.6
14loeys-dietz syndrome type 1a10.6
15marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.6
16tgfbr2-related loeys-dietz syndrome10.6
17tgfbr1-related loeys-dietz syndrome10.6
18smad3-related loeys-dietz syndrome10.6
19tgfb2-related loeys-dietz syndrome10.6
20cerebral aneurysms10.6
21intracranial aneurysm10.5
22hereditary hemorrhagic telangiectasia10.4TGFBR1
23aortic aneurysm, familial thoracic 110.3
24adrenoleukodystrophy10.3
25shprintzen-goldberg syndrome10.3
26obstructive sleep apnea10.3
27lens subluxation10.3
28distal arthrogryposis10.3
29cervicitis10.3
30congenital heart disease10.3
31ehlers-danlos syndrome10.3
32retinitis10.3
33sleep apnea10.3
34spontaneous coronary artery dissection10.3
35thoracic aortic aneurysms and aortic dissections10.3TGFBR1, TGFBR2
36leukemia10.3
37vitreoretinopathy, neovascular inflammatory10.2TGFB2, TGFBR2
38myelodysplastic syndrome10.2
39lymphedema-distichiasis syndrome10.2
40acute leukemia10.2
41learning disability10.2
42telangiectasis10.2FBN1, TGFBR1
43cleft palate, isolated10.2TGFBR2, TGFBR1
44bullous keratopathy10.2TGFB2, FBN1
45connective tissue disease10.2TGFBR2, FBN1
46legionaire disease10.1
47leiomyoma10.1SMAD3, TGFBR2
48cataract10.1TGFB2, TGFBR2
49pancreatic cancer10.1TGFBR1, TGFBR2, TGFB2
50microvascular complications of diabetes 310.0TGFBR2, 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

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Drugs & Therapeutics for Loeys-Dietz Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Loeys-Dietz Syndrome

Genetic Tests for Loeys-Dietz Syndrome

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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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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

31
Bone, Heart, Eye, Brain, Spinal cord

Animal Models for Loeys-Dietz Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

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

Publications for Loeys-Dietz Syndrome

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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
2
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
3
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. (25564957)
2015
4
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders. (24333532)
2014
5
Prenatal diagnosis of Loeys-Dietz syndrome. (25478638)
2014
6
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
7
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
8
Prenatal Diagnosis of Loeys-Dietz Syndrome. (25140493)
2014
9
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
10
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
11
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. (25163805)
2014
12
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
13
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. (25116393)
2014
14
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
15
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
16
Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. (24792536)
2014
17
Multiple aortic operations in loeys-dietz syndrome: report of 2 cases. (25551076)
2014
18
Curative reconstruction of a cerebral aneurysm by flow diversion with the Pipeline embolisation device in a patient with Loeys-Dietz syndrome. (25323276)
2014
19
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. (24798638)
2014
20
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
21
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
22
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
23
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
24
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
25
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
26
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
27
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
28
Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. (22193238)
2012
29
Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome. (22627960)
2012
30
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
31
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
32
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
33
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
34
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
35
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. (21949523)
2011
36
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
37
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
38
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
39
Musculoskeletal findings of Loeys-Dietz syndrome. (20686062)
2010
40
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
41
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
42
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
2009
43
Loeys-Dietz syndrome. (19471917)
2009
44
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. (19816028)
2009
45
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
46
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
2008
47
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. (18978651)
2008
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

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Clinvar genetic disease variations for Loeys-Dietz Syndrome:

6
id Gene Variation 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

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

Pathways for genes affiliated with Loeys-Dietz Syndrome

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Pathways related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

(show all 50)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TGFBR1, TGFBR2
2
Show member pathways
ALK1 pathway36
9.7TGFBR2, TGFBR1
39.7TGFBR2, TGFBR1
4
Show member pathways
9.7TGFBR2, TGFBR1
59.6TGFB2, TGFBR1
69.6TGFBR1, TGFB2
79.5SMAD3, TGFBR1
89.5SMAD3, TGFBR1
9
Show member pathways
9.5FBN1, TGFB2
10
Show member pathways
9.2TGFB2, TGFBR2, TGFBR1
11
Show member pathways
MAPK signaling pathway36
9.2TGFB2, TGFBR2, TGFBR1
129.2TGFB2, TGFBR2, TGFBR1
139.2TGFBR1, TGFBR2, TGFB2
149.2TGFB2, TGFBR2, TGFBR1
15
Show member pathways
9.2TGFB2, TGFBR2, TGFBR1
16
Show member pathways
9.2TGFB2, TGFBR2, TGFBR1
17
Show member pathways
9.2TGFB2, TGFBR2, TGFBR1
18
Show member pathways
9.2TGFBR1, TGFBR2, TGFB2
199.2TGFB2, TGFBR2, TGFBR1
20
Show member pathways
9.2TGFBR1, TGFBR2, TGFB2
219.2TGFB2, TGFBR2, TGFBR1
22
Show member pathways
9.2TGFBR1, TGFBR2, TGFB2
239.2TGFB2, DNMT1
249.2SMAD3, TGFBR1, TGFBR2
25
Show member pathways
9.2SMAD3, TGFBR1, TGFBR2
269.2TGFBR2, TGFBR1, SMAD3
27
Show member pathways
9.2TGFBR2, TGFBR1, SMAD3
289.2TGFBR2, TGFBR1, SMAD3
299.2TGFBR2, TGFBR1, SMAD3
30
Show member pathways
9.2TGFBR2, TGFBR1, SMAD3
31
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.2TGFBR2, TGFBR1, SMAD3
32
Show member pathways
9.1TGFB2, TGFBR1, FBN1
33
Show member pathways
Signal transduction PTEN pathway58
8.7SMAD3, TGFBR1, TGFBR2, TGFB2
348.7SMAD3, TGFBR1, TGFBR2, TGFB2
35
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2, TGFB2
368.7SMAD3, TGFBR1, TGFBR2, TGFB2
37
Show member pathways
8.7TGFB2, TGFBR2, TGFBR1, SMAD3
38
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.7SMAD3, TGFBR1, TGFBR2, TGFB2
39
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2, TGFB2
40
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation58
8.7SMAD3, TGFBR1, TGFBR2, TGFB2
418.7SMAD3, TGFBR1, TGFBR2, TGFB2
428.7SMAD3, TGFBR1, TGFBR2, TGFB2
438.7SMAD3, TGFBR1, TGFBR2, TGFB2
448.7SMAD3, TGFBR1, TGFBR2, TGFB2
45
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7TGFB2, TGFBR2, TGFBR1, SMAD3
468.7TGFB2, TGFBR2, TGFBR1, SMAD3
478.7SMAD3, TGFBR1, TGFBR2, TGFB2
48
Show member pathways
8.7TGFB2, TGFBR2, TGFBR1, FBN1
49
Show member pathways
8.7FBN1, TGFBR1, TGFBR2, TGFB2
50
Show member pathways
8.6TGFBR1, TGFBR2, TGFB2, SLC2A10

Compounds for genes affiliated with Loeys-Dietz Syndrome

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Compounds related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1taad439.9FBN1, TGFBR2
2p005439.8TGFB2, TGFBR2
3ribonucleic acid439.5TGFB2, TGFBR2, TGFBR1
4phosphorothioate439.4DNMT1, SMAD3
5matrigel439.4SMAD3, TGFBR1, TGFB2
6ly294002439.3SMAD3, TGFBR1, TGFBR2
7bleomycin43 1210.3TGFBR2, SMAD3
8dihydrotestosterone43 28 24 1212.1TGFB2, TGFBR2, TGFBR1, SMAD3
9tamoxifen43 49 28 1212.0TGFBR2, TGFB2, DNMT1
10heparin43 28 24 1212.0FBN1, TGFBR1, TGFB2
11alanine438.9TGFBR2, TGFBR1, FBN1, SMAD3
12genistein43 28 59 2 24 1213.9DNMT1, TGFB2, TGFBR1
13steroid438.8DNMT1, TGFB2, TGFBR1
14thymidine43 249.7DNMT1, TGFB2, SMAD3
15lysine438.7SMAD3, FBN1, DNMT1
16glutamate438.6FBN1, TGFBR2, TGFB2, DNMT1
17tgf beta1438.6TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3
18cysteine438.5DNMT1, TGFB2, TGFBR2, FBN1
19glucose438.4SMAD3, TGFBR1, TGFBR2, TGFB2, SLC2A10
20cycloheximide438.3SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
21progesterone43 28 59 24 1212.3FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
22oligonucleotide438.2SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
23vegf438.2SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
24nitric oxide43 24 1210.2DNMT1, TGFB2, TGFBR2, TGFBR1, SMAD3
25retinoic acid43 249.2DNMT1, TGFB2, TGFBR2, TGFBR1, FBN1
26vitamin d438.2SMAD3, FBN1, TGFBR2, TGFB2, DNMT1
27estrogen437.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
28serine437.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
29tyrosine437.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1

GO Terms for genes affiliated with Loeys-Dietz Syndrome

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Cellular components related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:00700229.4TGFBR2, TGFBR1
2receptor complexGO:00432359.2TGFBR2, TGFBR1, SMAD3

Biological processes related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:007072310.0TGFBR1, TGFBR2
2lens development in camera-type eyeGO:000208810.0TGFBR2, TGFBR1
3positive regulation of epithelial cell migrationGO:00106349.9TGFB2, TGFBR2
4peptidyl-threonine phosphorylationGO:00181079.9TGFBR2, TGFBR1
5neuron fate commitmentGO:00486639.9TGFB2, TGFBR1
6activation of protein kinase activityGO:00321479.9TGFB2, TGFBR2
7regulation of transforming growth factor beta2 productionGO:00329099.8TGFB2, SMAD3
8epithelial to mesenchymal transitionGO:00018379.8TGFB2, TGFBR1
9collagen fibril organizationGO:00301999.8TGFB2, TGFBR1
10positive regulation of epithelial to mesenchymal transitionGO:00107189.8SMAD3, TGFB2
11extrinsic apoptotic signaling pathwayGO:00971919.7TGFB2, SMAD3
12peptidyl-serine phosphorylationGO:00181059.7TGFBR1, TGFBR2
13pathway-restricted SMAD protein phosphorylationGO:00603899.6TGFB2, TGFBR2, TGFBR1
14palate developmentGO:00600219.6TGFBR2, TGFBR1
15cell-cell junction organizationGO:00452169.6SMAD3, TGFB2
16kidney developmentGO:00018229.5TGFBR1, FBN1
17embryonic cranial skeleton morphogenesisGO:00487019.5SMAD3, TGFBR1, TGFBR2
18negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.5TGFBR2, TGFBR1, SMAD3
19in utero embryonic developmentGO:00017019.5SMAD3, TGFBR1, TGFBR2
20protein phosphorylationGO:00064689.4TGFBR1, TGFBR2, TGFB2
21cell cycle arrestGO:00070509.4TGFB2, TGFBR1, SMAD3
22positive regulation of cell proliferationGO:00082849.3TGFB2, TGFBR2, TGFBR1
23positive regulation of cell growthGO:00303079.3TGFB2, TGFBR1
24wound healingGO:00420609.1TGFB2, TGFBR2, TGFBR1, SMAD3
25transforming growth factor beta receptor signaling pathwayGO:00071799.1SMAD3, TGFBR1, TGFBR2, TGFB2
26heart developmentGO:00075079.1TGFB2, TGFBR2, TGFBR1, FBN1

Molecular functions related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1type II transforming growth factor beta receptor bindingGO:00051149.8TGFB2, TGFBR1
2transforming growth factor beta-activated receptor activityGO:00050249.8TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:00504319.7TGFBR2, TGFBR1
4transforming growth factor beta receptor bindingGO:00051609.6TGFB2, SMAD3
5receptor signaling protein serine/threonine kinase activityGO:00047029.5TGFBR2, TGFB2
6SMAD bindingGO:00463329.4TGFBR2, TGFBR1
7protein bindingGO:00055157.4DNMT1, TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3

Products for genes affiliated with Loeys-Dietz Syndrome

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3CDC
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26ICD10 via Orphanet
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29KEGG
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