MCID: LYS001
MIFTS: 53

Loeys-Dietz Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome

About this section

Aliases & Descriptions for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 11 22 46 23 24 13 25 37 66
Loeys-Dietz Aortic Aneurysm Syndrome 22 46 23 24 66
Furlong Syndrome 46 66
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 46
Lds 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050466
MeSH37 D055947
SNOMED-CT60 446263001
NCIt43 C75006

Summaries for Loeys-Dietz Syndrome

About this section
NIH Rare Diseases:46 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 4 and tgfbr1-related loeys-dietz syndrome, and has symptoms including joint laxity An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways are NTHi-Induced Signaling and IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include bone, heart and brain, and related mouse phenotypes are digestive/alimentary and muscle.

Genetics Home Reference:24 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

About this section

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome 434.5TGFB2, TGFB3
2tgfbr1-related loeys-dietz syndrome34.0TGFB2, TGFB3
3loeys-dietz syndrome 312.6
4loeys-dietz syndrome 112.5
5loeys-dietz syndrome 212.5
6loeys-dietz syndrome 512.5
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
12tgfbr2-related loeys-dietz syndrome12.2
13epilepsy, progressive myoclonic 2b11.0
14aneurysm10.8
15marfan syndrome10.6
16cerebritis10.6
17celiac trunk compression syndrome10.6TGFBR1, TGFBR2
18chromophil adenoma of the kidney10.6TGFBR1, TGFBR2
19renal clear cell carcinoma10.4TGFB2, TGFB3
20cerebral aneurysms10.4
21spinal cancer10.4FBN1, TGFBR2
22intracranial aneurysm10.3
23cervicitis10.3
24aortic aneurysm10.3
25shprintzen-goldberg syndrome10.3
26aortic aneurysm, familial thoracic 110.3
27acromesomelic dysplasia10.2SMAD3, TGFB3
28myocardial infarction10.2
29adrenoleukodystrophy10.2
30distal arthrogryposis10.2
31sleep apnea10.2
32obstructive sleep apnea10.2
33scoliosis10.2
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
46kommerell diverticulum10.2
47herpetic gastritis10.1FBN1, TGFB2, TGFB3
48diamond-blackfan anemia10.0TGFB1, TGFB2
49keratopathy10.0SMAD3, TGFB1
50west syndrome9.9TGFB2, TGFBR2

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

UMLS symptoms related to Loeys-Dietz Syndrome:


joint laxity

Drugs & Therapeutics for Loeys-Dietz Syndrome

About this section

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

About this section

Genetic tests related to Loeys-Dietz Syndrome:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome25 23 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

About this section

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

34
Bone, Heart, Brain, Eye, Testes, Spinal cord

Animal Models for Loeys-Dietz Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

39 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
2MP:00053698.3ACTA2, FBN1, TGFB1, TGFB2, TGFBR1, TGFBR2
3MP:00053678.3FBN1, GREM1, SMAD3, TGFB1, TGFB2
4MP:00053918.1ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
5MP:00053718.1FBN1, GREM1, SMAD3, TGFB2, TGFB3, TGIF1
6MP:00053897.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGIF1
7MP:00053887.9FBN1, GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
8MP:00053877.9FBN1, SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
9MP:00053827.9FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
10MP:00053846.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
11MP:00053806.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
12MP:00053856.8ACTA2, FBN1, SMAD3, TGFB1, TGFB2, TGFB3
13MP:00107686.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
14MP:00036316.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
15MP:00053786.7FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
16MP:00053766.7FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
17MP:00053906.6FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3

Publications for Loeys-Dietz Syndrome

About this section

Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Genetic testing of 10 patients with features of loeys-dietz syndrome. (26877057)
2016
2
Loeys-Dietz syndrome. (27625276)
2016
3
Massive hemoptysis in Loeys-Dietz syndrome. (26614122)
2016
4
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. (26897206)
2016
5
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. (26301661)
2015
6
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. (26408217)
2015
7
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
8
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. (26184463)
2015
9
Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. (26948038)
2015
10
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
11
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
12
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
13
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
14
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
15
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
16
Curative reconstruction of a cerebral aneurysm by flow diversion with the Pipeline embolisation device in a patient with Loeys-Dietz syndrome. (25323276)
2014
17
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. (24798638)
2014
18
The spectrum of FBN1, TGFI^R1, TGFI^R2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). (24793577)
2014
19
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum. (24194458)
2014
20
Cerebral aneurysm in a patient with Loeys-Dietz syndrome. (24966571)
2014
21
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. (24199744)
2013
22
Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. (24086486)
2013
23
Loeys-Dietz syndrome with bilateral radial head dislocations: a case report. (24014798)
2013
24
Proximal paraparesis due to aortic dissection extending into bilateral carotid arteries in a patient with Loeys-Dietz syndrome. (23591182)
2013
25
Imaging findings in a child with Loeys-Dietz syndrome. (22825413)
2012
26
Prenatal complex congenital heart disease with Loeys-Dietz syndrome. (21774844)
2012
27
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. (22488992)
2012
28
Valve-sparing replacement of the ascending aorta and aortic arch in a child with Loeys-Dietz syndrome. (22228852)
2012
29
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. (22414221)
2012
30
Bilateral popliteal artery aneurysms in a young man with Loeys-Dietz syndrome. (22406093)
2012
31
Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome. (22921234)
2012
32
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (21542060)
2011
33
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? (21267002)
2011
34
Total aortic replacement in Loeys-Dietz syndrome. (21443730)
2011
35
Expanding the skeletal phenotype of Loeys-Dietz syndrome. (21484991)
2011
36
Valve-sparing replacement of the aortic root for a 2-year-old child with Loeys-Dietz syndrome. (19849876)
2010
37
Musculoskeletal findings of Loeys-Dietz syndrome. (20686062)
2010
38
The Loeys-Dietz syndrome: an update for the clinician. (20838339)
2010
39
Aortic decision making in Loeys-Dietz syndrome. (20304148)
2010
40
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. (20813212)
2010
41
Total aortic replacement in Loeys-Dietz syndrome. (19463636)
2009
42
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
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
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. (19159394)
2009
46
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. (19883511)
2009
47
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. (18978651)
2008
48
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (18084123)
2007
49
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome. (17599521)
2007
50
Loeys-Dietz Syndrome (20301312)
1993

Variations for Loeys-Dietz Syndrome

About this section

Clinvar genetic disease variations for Loeys-Dietz Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBR2NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs104893815GRCh37Chr 3, 30732970: 30732970
2TGFBR2NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
3TGFBR1NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantPathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
4TGFBR1NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)single nucleotide variantPathogenicrs113605875GRCh37Chr 9, 101911535: 101911535
5TGFBR1NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)single nucleotide variantPathogenicrs111426349GRCh37Chr 9, 101911534: 101911534
6TGFBR2NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)single nucleotide variantPathogenicrs727504292GRCh37Chr 3, 30713742: 30713742
7TGFBR2NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn)single nucleotide variantLikely pathogenic, Pathogenicrs727504421GRCh37Chr 3, 30732957: 30732957
8TGFBR1NM_004612.3(TGFBR1): c.934G> A (p.Gly312Ser)single nucleotide variantLikely pathogenic, Pathogenicrs760079636GRCh38Chr 9, 99142664: 99142664

Expression for genes affiliated with Loeys-Dietz Syndrome

About this section
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 Suite gene sharing:

(show top 50)    (show all 65)
idSuper pathwaysScoreTop Affiliating Genes
19.5SMAD3, TGFBR1, TGFBR2
2
Show member pathways
9.0TGFB1, TGFB2, TGFB3
39.0TGFB1, TGFB2, TGFB3
49.0TGFB1, TGFB2, TGFB3
59.0TGFB1, TGFB2, TGFB3
69.0TGFB1, TGFB2, TGFB3
78.7TGFB1, TGFB2, TGFBR1, TGFBR2
88.7TGFB1, TGFB2, TGFBR1, TGFBR2
9
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
10
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
118.7SMAD3, TGFB1, TGFBR1, TGFBR2
12
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
13
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
148.7TGFB1, TGFB3, TGFBR1, TGFBR2
15
Show member pathways
8.7TGFB1, TGFB3, TGFBR1, TGFBR2
16
Show member pathways
8.5FBN1, TGFB1, TGFB2, TGFB3
178.5ACTA2, TGFB1, TGFB2, TGFB3
18
Show member pathways
8.4SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
19
Show member pathways
8.4SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
208.4TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
218.4TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
228.4SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
23
Show member pathways
8.1GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
24
Show member pathways
8.1SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
258.1SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
26
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
27
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
288.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
29
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
30
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
318.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
328.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
33
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
34
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
358.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
36
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
378.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
388.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
39
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
408.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
41
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
42
Show member pathways
7.9ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
43
Show member pathways
7.9ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
44
Show member pathways
7.8ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1
457.8GREM1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
46
Show member pathways
7.6ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
47
Show member pathways
7.5ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1
487.4SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
49
Show member pathways
7.4SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
507.0ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1

GO Terms for genes affiliated with Loeys-Dietz Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:007002210.4TGFBR1, TGFBR2
2receptor complexGO:00432359.9SMAD3, TGFBR1, TGFBR2
3platelet alpha granule lumenGO:00310939.5TGFB1, TGFB2, TGFB3
4extracellular matrixGO:00310128.7FBN1, TGFB1, TGFB2, TGFB3
5cell surfaceGO:00099867.9GREM1, TGFB1, TGFB3, TGFBR1, TGFBR2
6extracellular spaceGO:00056157.6ACTA2, FBN1, GREM1, TGFB1, TGFB2, TGFB3

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

(show top 50)    (show all 88)
idNameGO IDScoreTop Affiliating Genes
1regulation of transforming growth factor beta2 productionGO:003290910.5SMAD3, TGFB2
2positive regulation of occluding junction disassemblyGO:190507510.5TGFB3, TGFBR1
3uterine wall breakdownGO:004270410.5TGFB2, TGFB3
4positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.3TGFB2, TGFBR1, TGFBR2
5signal transduction by protein phosphorylationGO:002301410.2TGFB2, TGFBR1, TGFBR2
6ventricular septum morphogenesisGO:006041210.2TGFB2, TGFBR1, TGFBR2
7common-partner SMAD protein phosphorylationGO:000718210.0TGFB1, TGFBR2
8regulation of bindingGO:005109810.0SMAD3, TGFB1
9positive regulation of extracellular matrix assemblyGO:190120310.0SMAD3, TGFB1
10evasion or tolerance of host defenses by virusGO:001904910.0SMAD3, TGFB1
11positive regulation of stress fiber assemblyGO:005149610.0SMAD3, TGFB3, TGFBR1
12frontal suture morphogenesisGO:006036410.0TGFB1, TGFB3
13regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500510.0TGFB1, TGFB3
14regulation of striated muscle tissue developmentGO:00162029.9SMAD3, TGFB1
15embryonic cranial skeleton morphogenesisGO:00487019.9SMAD3, TGFBR1, TGFBR2
16ossification involved in bone remodelingGO:00439329.8TGFB1, TGFB3
17cellular response to insulin-like growth factor stimulusGO:19903149.7FBN1, TGFB1
18response to cholesterolGO:00707239.7TGFB1, TGFBR1, TGFBR2
19in utero embryonic developmentGO:00017019.7SMAD3, TGFB3, TGFBR1, TGFBR2
20SMAD protein import into nucleusGO:00071849.6TGFB1, TGFB2, TGFB3
21collagen fibril organizationGO:00301999.6GREM1, TGFB2, TGFBR1
22salivary gland morphogenesisGO:00074359.6TGFB1, TGFB2, TGFB3
23extrinsic apoptotic signaling pathwayGO:00971919.6SMAD3, TGFB1, TGFB2
24positive regulation of bone mineralizationGO:00305019.6SMAD3, TGFB1, TGFB3
25epithelial to mesenchymal transitionGO:00018379.5TGFB1, TGFB2, TGFBR1
26positive regulation of cell divisionGO:00517819.5TGFB1, TGFB2, TGFB3
27negative regulation of macrophage cytokine productionGO:00109369.5TGFB1, TGFB2, TGFB3
28digestive tract developmentGO:00485659.5TGFB1, TGFB3, TGFBR2
29positive regulation of SMAD protein import into nucleusGO:00603919.5TGFB1, TGFB3, TGFBR1
30pathway-restricted SMAD protein phosphorylationGO:00603899.4TGFB1, TGFB2, TGFBR1, TGFBR2
31cell growthGO:00160499.4TGFB1, TGFB2, TGFB3
32skeletal system developmentGO:00015019.4FBN1, SMAD3, TGFB2, TGFBR1
33face morphogenesisGO:00603259.3TGFB1, TGFB2, TGFB3
34cellular response to transforming growth factor beta stimulusGO:00715609.3FBN1, TGFB1, TGFBR1
35heart developmentGO:00075079.2FBN1, TGFB2, TGFBR1, TGFBR2
36SMAD protein signal transductionGO:00603959.2SMAD3, TGFB1, TGFB2, TGFB3
37positive regulation of protein secretionGO:00507149.2TGFB1, TGFB2, TGFB3
38positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.2TGFB1, TGFB2, TGFB3, TGFBR1
39cell-cell junction organizationGO:00452169.1SMAD3, TGFB1, TGFB2, TGFB3
40cell cycle arrestGO:00070509.1SMAD3, TGFB1, TGFB2, TGFBR1
41response to progesteroneGO:00325709.1TGFB1, TGFB2, TGFB3
42negative regulation of cell growthGO:00303088.9GREM1, SMAD3, TGFB1, TGFB2
43negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305128.7SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
44transforming growth factor beta receptor signaling pathwayGO:00071798.6SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
45positive regulation of epithelial to mesenchymal transitionGO:00107188.5SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
46positive regulation of transcription, DNA-templatedGO:00458938.4GREM1, SMAD3, TGFB1, TGFB3, TGFBR1
47negative regulation of cell proliferationGO:00082858.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
48response to hypoxiaGO:00016668.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
49wound healingGO:00420608.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
50positive regulation of cell proliferationGO:00082847.9GREM1, TGFB1, TGFB2, TGFBR1, TGFBR2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.5TGFBR1, TGFBR2
2receptor signaling protein serine/threonine kinase activityGO:000470210.1TGFB2, TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:005043110.0TGFB3, TGFBR1, TGFBR2
4co-SMAD bindingGO:007041010.0SMAD3, TGIF1
5SMAD bindingGO:00463329.8SMAD3, TGFBR1, TGFBR2
6type I transforming growth factor beta receptor bindingGO:00347139.6TGFB1, TGFB3, TGFBR2
7type III transforming growth factor beta receptor bindingGO:00347149.6TGFB1, TGFB2, TGFB3
8transforming growth factor beta receptor bindingGO:00051609.5SMAD3, TGFB1, TGFB2
9type II transforming growth factor beta receptor bindingGO:00051149.2TGFB1, TGFB2, TGFB3, TGFBR1
10growth factor activityGO:00080839.1TGFB1, TGFB2, TGFB3
11cytokine activityGO:00051258.7GREM1, TGFB1, TGFB2, TGFB3
12protein heterodimerization activityGO:00469828.6SMAD3, TGFB1, TGFB2, TGFB3

Sources for Loeys-Dietz Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet