MCID: LYS001
MIFTS: 45

Loeys-Dietz Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Loeys-Dietz Syndrome

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Aliases & Descriptions for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 10 21 45 22 23 12 24 65 36
Loeys-Dietz Aortic Aneurysm Syndrome 21 45 23 65
Aortic Aneurysm Syndrome, Loeys-Dietz Type 45 22
 
Furlong Syndrome 45 65
Lds 23


Classifications:



External Ids:

Disease Ontology10 DOID:0050466
MeSH36 D055947

Summaries for Loeys-Dietz Syndrome

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NIH Rare Diseases:45 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. the disease is caused by mutations in the tgfbr1, the tgfbr2,  the smad3 or the tgfb2 genes. it is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. many specialists may be involved for the best managment of the patient. last updated: 10/2/2015

MalaCards based summary: Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome type 2a and mixed cell type cancer. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor, Beta Receptor II (70/80kDa)), and among its related pathways are Development_Glucocorticoid receptor signaling and . Affiliated tissues include bone, heart and brain, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Genetics Home Reference:23 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 215)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome type 2a31.3TGFBR1, TGFBR2
2mixed cell type cancer29.8FBN1, TGFB2
3aneurysm11.0
4loeys-dietz syndrome 310.9
5marfan syndrome10.8
6loeys-dietz syndrome 410.8
7loeys-dietz syndrome 110.8
8loeys-dietz syndrome 510.8
9cerebritis10.8
10loeys-dietz syndrome type 1b10.7
11loeys-dietz syndrome 210.7
12loeys-dietz syndrome type 2b10.7
13loeys-dietz syndrome type 1a10.6
14tgfbr3-related loeys-dietz syndrome10.6
15smad3-related loeys-dietz syndrome10.6
16tgfb2-related loeys-dietz syndrome10.6
17marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections10.6
18tgfbr1-related loeys-dietz syndrome10.6
19tgfbr2-related loeys-dietz syndrome10.6
20cerebral aneurysms10.6
21aortic aneurysm10.5
22cervicitis10.5
23intracranial aneurysm10.5
24spontaneous coronary artery dissection10.5
25lung cancer10.4
26cell type cancer10.4
27shprintzen-goldberg syndrome10.3
28aortic aneurysm, familial thoracic 110.3
29adrenoleukodystrophy10.3
30distal arthrogryposis10.3
31lens subluxation10.3
32thoracic aortic aneurysm10.3
33obstructive sleep apnea10.3
34congenital heart disease10.3
35ehlers-danlos syndrome10.3
36retinitis10.3
37sleep apnea10.3
38reversible cerebral vasoconstriction syndrome10.3
39cardiomyopathy10.3
40encephalopathy10.3
41small cell cancer of the lung, somatic10.3
42small cell carcinoma10.3
43small cell neuroendocrine carcinoma10.3
44thoracic cancer10.3
45small cell lung cancer, adult10.3
46spondylosis10.3
47bronchus carcinoma10.3
48bronchial disease10.3
49bronchial neoplasm10.3
50respiratory system disease10.3

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History and Genetics of Food Allergy and Related ConditionsRecruitingNCT02504853
2Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
3Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
4Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
5National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

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Cochrane evidence based reviews: 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 Syndrome22 24 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

33
Bone, Heart, Brain, Eye, Spinal cord, Testes

Animal Models for Loeys-Dietz Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8DNMT1, SMAD3, TGFBR1, TGFBR2
2MP:00053718.7FBN1, SMAD3, TGFB2, TGFB3
3MP:00053698.5ACTA2, FBN1, TGFB2, TGFBR1, TGFBR2
4MP:00053828.3FBN1, SMAD3, TGFB2, TGFB3, TGFBR2
5MP:00053818.3DNMT1, SMAD3, TGFB2, TGFB3, TGFBR2
6MP:00053888.1FBN1, TGFB2, TGFB3, TGFBR1, TGFBR2
7MP:00053918.0ACTA2, SMAD3, TGFB2, TGFB3, TGFBR2
8MP:00053788.0DNMT1, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2
9MP:00053908.0FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
10MP:00053977.8DNMT1, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2
11MP:00053877.5DNMT1, FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2
12MP:00053847.4DNMT1, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
13MP:00053807.3DNMT1, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
14MP:00107687.2DNMT1, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
15MP:00053857.2ACTA2, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
16MP:00036316.9DNMT1, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1

Publications for Loeys-Dietz Syndrome

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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. (26301661)
2015
2
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
3
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. (26408217)
2015
4
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
5
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. (26096872)
2015
6
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. (25564957)
2015
7
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. (26332884)
2015
8
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. (26184463)
2015
9
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders. (24333532)
2014
10
Prenatal diagnosis of Loeys-Dietz syndrome. (25478638)
2014
11
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
12
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
13
Prenatal Diagnosis of Loeys-Dietz Syndrome. (25140493)
2014
14
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
15
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
16
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. (25163805)
2014
17
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
18
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. (25116393)
2014
19
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
20
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
21
Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. (24792536)
2014
22
Multiple aortic operations in loeys-dietz syndrome: report of 2 cases. (25551076)
2014
23
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
24
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
25
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
26
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
27
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
28
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
29
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
30
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
31
Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. (22193238)
2012
32
Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome. (22627960)
2012
33
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
34
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
35
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
36
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
37
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
38
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. (21949523)
2011
39
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
40
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
41
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
42
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
43
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
44
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
2009
45
Loeys-Dietz syndrome. (19471917)
2009
46
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. (18827873)
2008
47
Aortic dissection in a young man with Loeys-Dietz syndrome. (18455604)
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBR2NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
2TGFBR1NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
3TGFBR2NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn)single nucleotide variantLikely pathogenic, Pathogenicrs727504421GRCh37Chr 3, 30732957: 30732957

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 top 50)    (show all 54)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SMAD3, TGFBR1
2
p38 MAPK Signaling Pathway (WikiPathways)
Show member pathways
9.6SMAD3, TGFBR1
3
Show member pathways
9.3SMAD3, TGFBR1, TGFBR2
49.3SMAD3, TGFBR1, TGFBR2
5
Show member pathways
9.3SMAD3, TGFBR1, TGFBR2
69.3SMAD3, TGFBR1, TGFBR2
79.3SMAD3, TGFBR1, TGFBR2
8
Show member pathways
9.3SMAD3, TGFBR1, TGFBR2
99.3SMAD3, TGFBR1, TGFBR2
10
Show member pathways
9.3SMAD3, TGFBR1, TGFBR2
11
Show member pathways
9.3SMAD3, TGFBR1, TGFBR2
129.3TGFB2, TGFBR1, TGFBR2
139.3TGFB2, TGFBR1, TGFBR2
149.2TGFB2, TGFB3
15
Show member pathways
9.2TGFB2, TGFB3
168.9TGFB3, TGFBR1, TGFBR2
17
Show member pathways
8.9TGFB3, TGFBR1, TGFBR2
18
Show member pathways
8.9SMAD3, TGFB2, TGFBR1, TGFBR2
19
Angiogenesis (CST)
Show member pathways
8.8SMAD3, TGFB2, TGFBR1, TGFBR2
208.8SMAD3, TGFB2, TGFB3
21
Show member pathways
8.7FBN1, TGFB2, TGFB3
228.5SMAD3, TGFB3, TGFBR1, TGFBR2
238.5TGFB2, TGFB3, TGFBR1, TGFBR2
248.5TGFB2, TGFB3, TGFBR1, TGFBR2
25
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
26
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
27
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
28
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
298.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
308.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
31
TGF-beta Signaling Pathway (sino)
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
328.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
33
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
34
TGF-beta signaling pathway (KEGG)
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
35
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
368.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
378.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
388.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
39
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
408.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
418.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
42
Show member pathways
8.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
43
Show member pathways
7.9ACTA2, TGFB2, TGFB3, TGFBR1, TGFBR2
44
Show member pathways
7.9ACTA2, TGFB2, TGFB3, TGFBR1, TGFBR2
45
Show member pathways
7.7ACTA2, FBN1, TGFB2, TGFB3, TGFBR1
467.4ACTA2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
47
Show member pathways
7.4ACTA2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
48
Show member pathways
7.4ACTA2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
49
Show member pathways
7.3ACTA2, FBN1, TGFB2, TGFB3, TGFBR1, TGFBR2
50
Show member pathways
6.9ACTA2, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1

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:007002210.2TGFBR1, TGFBR2
2platelet alpha granule lumenGO:00310939.6TGFB2, TGFB3
3receptor complexGO:00432359.3SMAD3, TGFBR1, TGFBR2
4extracellular matrixGO:00310128.7FBN1, TGFB2, TGFB3

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:007072310.3TGFBR1, TGFBR2
2peptidyl-threonine phosphorylationGO:001810710.3TGFBR1, TGFBR2
3neuron fate commitmentGO:004866310.3TGFB2, TGFBR1
4activin receptor signaling pathwayGO:003292410.3SMAD3, TGFBR1
5positive regulation of epithelial cell migrationGO:001063410.3TGFB2, TGFBR2
6regulation of transforming growth factor beta2 productionGO:003290910.3SMAD3, TGFB2
7cardiac epithelial to mesenchymal transitionGO:006031710.2TGFB2, TGFBR1
8epithelial to mesenchymal transitionGO:000183710.2TGFB2, TGFBR1
9extrinsic apoptotic signaling pathwayGO:009719110.2SMAD3, TGFB2
10lens development in camera-type eyeGO:000208810.2TGFBR1, TGFBR2
11gastrulationGO:000736910.2SMAD3, TGFBR2
12cellular response to transforming growth factor beta stimulusGO:007156010.1FBN1, TGFBR1
13positive regulation of SMAD protein import into nucleusGO:00603919.9TGFB3, TGFBR1
14pathway-restricted SMAD protein phosphorylationGO:00603899.9TGFB2, TGFBR1, TGFBR2
15signal transduction by protein phosphorylationGO:00230149.9TGFB2, TGFBR1, TGFBR2
16positive regulation of filopodium assemblyGO:00514919.8TGFB3, TGFBR1
17SMAD protein import into nucleusGO:00071849.8TGFB2, TGFB3
18negative regulation of macrophage cytokine productionGO:00109369.8TGFB2, TGFB3
19uterine wall breakdownGO:00427049.8TGFB2, TGFB3
20positive regulation of protein secretionGO:00507149.8TGFB2, TGFB3
21positive regulation of cell divisionGO:00517819.8TGFB2, TGFB3
22positive regulation of bone mineralizationGO:00305019.8SMAD3, TGFB3
23salivary gland morphogenesisGO:00074359.8TGFB2, TGFB3
24growthGO:00400079.8TGFB2, TGFB3
25odontogenesisGO:00424769.8TGFB2, TGFB3
26embryonic cranial skeleton morphogenesisGO:00487019.8SMAD3, TGFBR1, TGFBR2
27response to progesteroneGO:00325709.8TGFB2, TGFB3
28collagen fibril organizationGO:00301999.8TGFB2, TGFBR1
29face morphogenesisGO:00603259.7TGFB2, TGFB3
30cell cycle arrestGO:00070509.6SMAD3, TGFB2, TGFBR1
31cell developmentGO:00484689.6TGFB2, TGFB3
32positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4TGFB2, TGFB3, TGFBR1
33positive regulation of epithelial to mesenchymal transitionGO:00107189.4SMAD3, TGFB2, TGFB3
34SMAD protein signal transductionGO:00603959.3SMAD3, TGFB2, TGFB3
35digestive tract developmentGO:00485659.3TGFB3, TGFBR2
36cell-cell junction organizationGO:00452169.3SMAD3, TGFB2, TGFB3
37palate developmentGO:00600219.2TGFB3, TGFBR1, TGFBR2
38regulation of cell proliferationGO:00421279.1DNMT1, TGFB3, TGFBR2
39response to hypoxiaGO:00016669.1SMAD3, TGFB2, TGFB3
40negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.0SMAD3, TGFB3, TGFBR1, TGFBR2
41in utero embryonic developmentGO:00017019.0SMAD3, TGFB3, TGFBR1, TGFBR2
42heart developmentGO:00075079.0FBN1, TGFB2, TGFBR1, TGFBR2
43skeletal system developmentGO:00015018.9FBN1, SMAD3, TGFB2, TGFBR1
44regulation of gene expressionGO:00104688.9DNMT1, TGFBR1, TGFBR2
45negative regulation of cell proliferationGO:00082858.8SMAD3, TGFB2, TGFB3, TGFBR2
46extracellular matrix organizationGO:00301988.7FBN1, TGFB2, TGFB3
47positive regulation of gene expressionGO:00106288.4ACTA2, DNMT1, SMAD3, TGFB2, TGFBR1
48transforming growth factor beta receptor signaling pathwayGO:00071798.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
49wound healingGO:00420608.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.1TGFBR1, TGFBR2
2transmembrane receptor protein serine/threonine kinase activityGO:00046759.9TGFBR1, TGFBR2
3transforming growth factor beta receptor bindingGO:00051609.8SMAD3, TGFB2
4type I transforming growth factor beta receptor bindingGO:00347139.7TGFB3, TGFBR2
5receptor signaling protein serine/threonine kinase activityGO:00047029.4TGFB2, TGFBR1, TGFBR2
6SMAD bindingGO:00463329.3SMAD3, TGFBR1, TGFBR2
7type III transforming growth factor beta receptor bindingGO:00347149.2TGFB2, TGFB3, TGFBR2
8type II transforming growth factor beta receptor bindingGO:00051149.1TGFB2, TGFB3, TGFBR1
9transforming growth factor beta bindingGO:00504318.8TGFB3, TGFBR1, TGFBR2

Sources for Loeys-Dietz Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet