LDS
MCID: LYS001
MIFTS: 57

Loeys-Dietz Syndrome (LDS) malady

Genetic diseases, Rare diseases categories

Summaries for Loeys-Dietz Syndrome

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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 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:22 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

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Loeys-Dietz Syndrome, Aliases & Descriptions:

Name: Loeys-Dietz Syndrome 9 20 42 21 23 22 11 61
Loeys-Dietz Aortic Aneurysm Syndrome 20 42 22 61
Furlong Syndrome 42 61
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 42
Lds 22


Classifications:

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


External Ids:

Disease Ontology9 DOID:0050466
MeSH34 D055947

Related Diseases for Loeys-Dietz Syndrome

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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 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
24thoracic aortic aneurysms and aortic dissections10.3TGFBR1, TGFBR2
25adrenoleukodystrophy10.3
26obstructive sleep apnea10.3
27distal arthrogryposis10.3
28lens subluxation10.3
29congenital heart disease10.3
30ehlers-danlos syndrome10.3
31retinitis10.3
32sleep apnea10.3
33familial thoracic aortic aneurysm and dissection10.3
34goldberg-shprintzen megacolon syndrome10.3
35spontaneous coronary artery dissection10.3
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 nephropathy10.1TGFBR2, 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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Clinical features from OMIM:

613795,610380,610168,614816,608967,609192

Drugs & Therapeutics for Loeys-Dietz Syndrome

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Drug clinical trials:

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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 Syndrome21 23 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

32
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:

36 (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 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

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Clinvar genetic disease variations for Loeys-Dietz Syndrome:

7
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

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

(show all 50)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TGFBR1, TGFBR2
2
Show member pathways
ALK1 pathway37
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 pathway37
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 Receptor59
9.2TGFBR2, TGFBR1, SMAD3
32
Show member pathways
9.1TGFB2, TGFBR1, FBN1
33
Show member pathways
Signal transduction PTEN pathway59
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 events37
Polo-like kinase signaling events in the cell cycle37
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 regulation59
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 pathway37
Regulation of toll-like receptor signaling pathway37
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/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1taad449.9FBN1, TGFBR2
2p005449.8TGFB2, TGFBR2
3ribonucleic acid449.5TGFB2, TGFBR2, TGFBR1
4phosphorothioate449.4DNMT1, SMAD3
5matrigel449.4SMAD3, TGFBR1, TGFB2
6ly294002449.3SMAD3, TGFBR1, TGFBR2
7bleomycin44 1210.3TGFBR2, SMAD3
8dihydrotestosterone44 29 25 1212.1TGFB2, TGFBR2, TGFBR1, SMAD3
9tamoxifen44 50 29 1212.0TGFBR2, TGFB2, DNMT1
10heparin44 29 25 1212.0FBN1, TGFBR1, TGFB2
11alanine448.9TGFBR2, TGFBR1, FBN1, SMAD3
12genistein44 29 60 3 25 1213.9DNMT1, TGFB2, TGFBR1
13steroid448.8DNMT1, TGFB2, TGFBR1
14thymidine44 259.7DNMT1, TGFB2, SMAD3
15lysine448.7SMAD3, FBN1, DNMT1
16glutamate448.6FBN1, TGFBR2, TGFB2, DNMT1
17tgf beta1448.6TGFB2, TGFBR2, TGFBR1, FBN1, SMAD3
18cysteine448.5DNMT1, TGFB2, TGFBR2, FBN1
19glucose448.4SMAD3, TGFBR1, TGFBR2, TGFB2, SLC2A10
20cycloheximide448.3SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
21progesterone44 29 60 25 1212.3FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
22oligonucleotide448.2SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
23vegf448.2SMAD3, TGFBR1, TGFBR2, TGFB2, DNMT1
24nitric oxide44 25 1210.2DNMT1, TGFB2, TGFBR2, TGFBR1, SMAD3
25retinoic acid44 259.2DNMT1, TGFB2, TGFBR2, TGFBR1, FBN1
26vitamin d448.2SMAD3, FBN1, TGFBR2, TGFB2, DNMT1
27estrogen447.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
28serine447.7SMAD3, FBN1, TGFBR1, TGFBR2, TGFB2, DNMT1
29tyrosine447.7SMAD3, 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/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

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