MCID: LYS001
MIFTS: 51

Loeys-Dietz Syndrome malady

Categories: Genetic diseases, Rare diseases

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050466
MeSH36 D055947
SNOMED-CT59 446263001
NCIt42 C75006
UMLS65 C1836635, C2697932, C2931764

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 shprintzen-goldberg syndrome and loeys-dietz syndrome 3, and has symptoms including joint laxity An important gene associated with Loeys-Dietz Syndrome is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways are NTHi-Induced Signaling and Adherens junction. Affiliated tissues include brain, bone and heart, and related mouse phenotypes are limbs/digits/tail and tumorigenesis.

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 NBK1133

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 82)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome30.2FBN1, TGFB1
2loeys-dietz syndrome 312.6
3loeys-dietz syndrome 112.5
4loeys-dietz syndrome 412.5
5loeys-dietz syndrome 212.5
6loeys-dietz syndrome 512.4
7marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections12.3
8smad3-related loeys-dietz syndrome12.3
9tgfb2-related loeys-dietz syndrome12.3
10tgfb3-related loeys-dietz syndrome12.3
11smad4-related loeys-dietz syndrome12.2
12tgfbr1-related loeys-dietz syndrome12.2
13tgfbr2-related loeys-dietz syndrome12.2
14epilepsy, progressive myoclonic 2b11.0
15aneurysm10.8
16marfan syndrome10.6
17cerebritis10.6
18acute generalized exanthematous pustulosis10.6TGFBR1, TGFBR2
19familial tumoral calcinosis10.6SMAD3, TGFBR1
20cerebral aneurysms10.4
21trigeminal nerve disease10.4FBN1, TGFBR2
22familial renal oncocytoma10.4TGFBR1, TGFBR2
23intracranial aneurysm10.3
24cervicitis10.3
25aortic aneurysm10.3
26spontaneous coronary artery dissection10.3
27stickler syndrome10.3SMAD3, TGFB3
28aortic aneurysm, familial thoracic 110.3
29myocardial infarction10.2
30adrenoleukodystrophy10.2
31distal arthrogryposis10.2
32sleep apnea10.2
33obstructive sleep apnea10.2
34lens subluxation10.2
35heart disease10.2
36ehlers-danlos syndrome10.2
37thoracic aortic aneurysm10.2
38congenital heart disease10.2
39retinitis10.2
40aortic disease10.2
41aortic coarctation10.2
42coronary artery aneurysm10.2
43reversible cerebral vasoconstriction syndrome10.2
44cardiomyopathy10.2
45encephalopathy10.2
46chronic ulcer of skin10.2SMAD3, TGFB1
47genetic prion diseases10.1FBN1, TGFB1
48signet ring cell variant cervical mucinous adenocarcinoma10.1FBN1, TGFB2, TGFB3
49breast fibroadenosis10.1TGFB1, TGFB2
50elastoderma10.1TGFB1, TGFBR1, TGFBR2

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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UMLS symptoms related to Loeys-Dietz Syndrome:


joint laxity

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

Search NIH Clinical Center for Loeys-Dietz Syndrome


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 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

33
Brain, Bone, Heart, Eye, Pituitary, Testes, Prostate

Animal Models for Loeys-Dietz Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0FBN1, GREM1, SMAD3, TGFB2, TGFB3
2MP:00020068.9SMAD3, TGFB1, TGFBI, TGFBR1, TGFBR2
3MP:00053678.7FBN1, GREM1, SMAD3, TGFB1, TGFB2
4MP:00053818.7SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
5MP:00053918.5ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
6MP:00053828.4FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
7MP:00053698.4ACTA2, FBN1, TGFB1, TGFB2, TGFBR1, TGFBR2
8MP:00053888.1FBN1, GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
9MP:00053877.9FBN1, SMAD3, TGFB1, TGFB2, TGFBI, TGFBR1
10MP:00053977.8FBN1, SMAD3, TGFB1, TGFB2, TGFBI, TGFBR1
11MP:00053807.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
12MP:00036317.7FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
13MP:00053857.6ACTA2, FBN1, SMAD3, TGFB1, TGFB2, TGFB3
14MP:00053907.4FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
15MP:00053847.2FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
16MP:00053767.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
17MP:00107687.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
18MP:00053787.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3

Publications for Loeys-Dietz Syndrome

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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Genetic testing of 10 patients with features of loeys-dietz syndrome. (26877057)
2016
2
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. (26897209)
2016
3
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. (27100340)
2016
4
Massive hemoptysis in Loeys-Dietz syndrome. (26614122)
2016
5
Early Diagnosis and Repair of Double Saccular Aneurysms of the Aortic Arch Associated With Aortic Coarctation in an Infant With Loeys-Dietz Syndrome. (26655350)
2016
6
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. (26301661)
2015
7
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
8
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. (26408217)
2015
9
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
10
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. (26096872)
2015
11
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. (25564957)
2015
12
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. (26332884)
2015
13
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. (26184463)
2015
14
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders. (24333532)
2014
15
Prenatal diagnosis of Loeys-Dietz syndrome. (25478638)
2014
16
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
17
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
18
Prenatal Diagnosis of Loeys-Dietz Syndrome. (25140493)
2014
19
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
20
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
21
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. (25163805)
2014
22
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
23
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. (25116393)
2014
24
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
25
Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. (24395868)
2014
26
Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. (24792536)
2014
27
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
28
Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. (23350955)
2013
29
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign. (23980202)
2013
30
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
31
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
32
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. (22734312)
2012
33
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
34
Transforming growth factor I^ signaling perturbation in the Loeys-Dietz syndrome. (22335518)
2012
35
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (21522183)
2011
36
Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report. (21471839)
2011
37
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. (21785848)
2011
38
Traumatic aortic dissection in a boy with Loeys-Dietz syndrome. (21958811)
2011
39
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
40
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
41
Two-stage total aortic replacement for Loeys-Dietz syndrome. (20492031)
2010
42
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. (20101701)
2010
43
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
44
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
45
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. (19556353)
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
50

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 variantPathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
3TGFBR1NM_004612.3(TGFBR1): c.934G> A (p.Gly312Ser)single nucleotide variantLikely pathogenic, Pathogenicrs760079636GRCh38Chr 9, 99142664: 99142664

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 60)
idSuper pathwaysScoreTop Affiliating Genes
19.6SMAD3, TGFBR1, TGFBR2
29.6SMAD3, TGFBR1, TGFBR2
39.1TGFB1, TGFB2, TGFB3
49.1TGFB1, TGFB2, TGFB3
5
Show member pathways
9.1TGFB1, TGFB2, TGFB3
69.1TGFB1, TGFB2, TGFB3
79.1TGFB1, TGFB2, TGFB3
89.1TGFB1, TGFB2, TGFB3
99.1TGFB1, TGFB2, TGFB3
10
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
11
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
12
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
13
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
148.9SMAD3, TGFB1, TGFBR1, TGFBR2
15
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
168.9SMAD3, TGFB1, TGFBR1, TGFBR2
178.9TGFB1, TGFB2, TGFBR1, TGFBR2
188.9TGFB1, TGFB2, TGFBR1, TGFBR2
19
Show member pathways
8.9TGFB1, TGFB3, TGFBR1, TGFBR2
208.9TGFB1, TGFB3, TGFBR1, TGFBR2
218.8SMAD3, TGFB1, TGFB2, TGFB3
22
Show member pathways
8.7FBN1, TGFB1, TGFB2, TGFB3
238.7ACTA2, TGFB1, TGFB2, TGFB3
24
Show member pathways
8.6SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
258.6SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
268.6TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
278.6TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
28
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
29
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
308.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
318.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
32
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
33
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
34
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
35
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
368.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
378.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
38
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
398.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
40
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
418.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
42
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
438.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
448.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
45
Show member pathways
8.1ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
46
Show member pathways
8.1ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
47
Show member pathways
8.0ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1
48
Show member pathways
7.8ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
497.8ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
50
Show member pathways
7.7ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1

GO Terms for genes affiliated with Loeys-Dietz Syndrome

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

(show top 50)    (show all 68)
idNameGO IDScoreTop Affiliating Genes
1activin receptor signaling pathwayGO:003292410.5SMAD3, TGFBR1
2regulation of transforming growth factor beta2 productionGO:003290910.5SMAD3, TGFB2
3positive regulation of extracellular matrix assemblyGO:190120310.2SMAD3, TGFB1
4endothelial cell migrationGO:004354210.2GREM1, TGFBR1
5common-partner SMAD protein phosphorylationGO:000718210.2TGFB1, TGFBR2
6lens fiber cell differentiationGO:007030610.2SMAD3, TGFB1
7regulation of striated muscle tissue developmentGO:001620210.2SMAD3, TGFB1
8SMAD protein complex assemblyGO:000718310.2SMAD3, TGFB1
9response to laminar fluid shear stressGO:003461610.2TGFB1, TGFB3
10ossification involved in bone remodelingGO:004393210.2TGFB1, TGFB3
11regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500510.2TGFB1, TGFB3
12frontal suture morphogenesisGO:006036410.2TGFB1, TGFB3
13negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
14positive regulation of collagen biosynthetic processGO:003296710.1TGFB1, TGFB3
15negative regulation of DNA replicationGO:000815610.1TGFB1, TGFB3
16signal transduction by protein phosphorylationGO:002301410.1TGFB2, TGFBR1, TGFBR2
17myeloid dendritic cell differentiationGO:004301110.0TGFB1, TGFBR2
18embryonic cranial skeleton morphogenesisGO:004870110.0SMAD3, TGFBR1, TGFBR2
19positive regulation of cardiac muscle cell differentiationGO:200072710.0GREM1, TGFB1
20collagen fibril organizationGO:00301999.9GREM1, TGFB2, TGFBR1
21wound healingGO:00420609.9SMAD3, TGFB2, TGFB3
22regulation of epithelial to mesenchymal transitionGO:00107179.9GREM1, TGFBR1
23positive regulation of bone mineralizationGO:00305019.9SMAD3, TGFB1
24negative regulation of macrophage cytokine productionGO:00109369.8TGFB1, TGFB2, TGFB3
25SMAD protein import into nucleusGO:00071849.8TGFB1, TGFB2, TGFB3
26positive regulation of SMAD protein import into nucleusGO:00603919.7TGFB1, TGFB3, TGFBR1
27epithelial to mesenchymal transitionGO:00018379.6TGFB1, TGFB2, TGFBR1
28face morphogenesisGO:00603259.6TGFB1, TGFB2, TGFB3
29in utero embryonic developmentGO:00017019.6SMAD3, TGFB3, TGFBR1, TGFBR2
30SMAD protein signal transductionGO:00603959.6SMAD3, TGFB1, TGFB2
31cell growthGO:00160499.6TGFB1, TGFB2, TGFB3
32positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6TGFB1, TGFB2, TGFBR1
33pathway-restricted SMAD protein phosphorylationGO:00603899.5TGFB1, TGFB2, TGFBR1, TGFBR2
34positive regulation of protein secretionGO:00507149.5TGFB1, TGFB2, TGFB3
35salivary gland morphogenesisGO:00074359.5TGFB1, TGFB2, TGFB3
36heart developmentGO:00075079.5FBN1, TGFB2, TGFBR1, TGFBR2
37negative regulation of cell growthGO:00303089.5GREM1, SMAD3, TGFB2
38growthGO:00400079.5TGFB1, TGFB2, TGFB3
39platelet degranulationGO:00025769.5TGFB1, TGFB2, TGFB3
40agingGO:00075689.5TGFB1, TGFB3, TGFBR2
41cell cycle arrestGO:00070509.5SMAD3, TGFB1, TGFB2, TGFBR1
42platelet activationGO:00301689.4TGFB1, TGFB2, TGFB3
43palate developmentGO:00600219.4TGFB3, TGFBR1, TGFBR2
44extracellular matrix organizationGO:00301989.2TGFB1, TGFB2, TGFB3
45regulation of cell proliferationGO:00421279.2TGFB1, TGFB3, TGFBR2
46negative regulation of cell proliferationGO:00082859.0SMAD3, TGFB1, TGFB2, TGFBR2
47positive regulation of epithelial to mesenchymal transitionGO:00107189.0SMAD3, TGFB1, TGFB3, TGFBR2
48angiogenesisGO:00015258.8GREM1, TGFB2, TGFBI, TGFBR1
49positive regulation of transcription, DNA-templatedGO:00458938.8GREM1, SMAD3, TGFB1, TGFB3, TGFBR1
50transforming growth factor beta receptor signaling pathwayGO:00071797.9SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.6SMAD3, 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