MCID: LYS001
MIFTS: 52

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 11 23 48 24 25 27 39 13 68
Loeys-Dietz Aortic Aneurysm Syndrome 23 48 24 25 68
Furlong Syndrome 48 68
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 48
Lds 25

Characteristics:

GeneReviews:

23
Penetrance: intrafamilial clinical variability has been described and rare examples of non-penetrance in lds have been documented. in one case, this was related to somatic mosaicism; in another, no evidence for mosaicism was observed...


Classifications:



External Ids:

Disease Ontology11 DOID:0050466
MeSH39 D055947
SNOMED-CT62 446263001
NCIt45 C75006

Summaries for Loeys-Dietz Syndrome

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NIH Rare Diseases:48 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 p38 MAPK Signaling Pathway (WikiPathways) and NTHi-Induced Signaling. Affiliated tissues include bone, testes and spinal cord, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and muscle.

Genetics Home Reference:25 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 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome 434.3TGFB2, TGFB3
2tgfbr1-related loeys-dietz syndrome33.7TGFB2, TGFB3
3loeys-dietz syndrome 112.5
4loeys-dietz syndrome 312.5
5loeys-dietz syndrome 512.5
6loeys-dietz syndrome 212.5
7marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections12.1
8smad3-related loeys-dietz syndrome12.1
9tgfb2-related loeys-dietz syndrome12.1
10tgfb3-related loeys-dietz syndrome12.1
11smad4-related loeys-dietz syndrome12.1
12tgfbr2-related loeys-dietz syndrome12.1
13shprintzen-goldberg syndrome11.2
14aortic aneurysm, familial thoracic 111.2
15aneurysm10.7
16marfan syndrome10.5
17celiac trunk compression syndrome10.5TGFBR1, TGFBR2
18cerebritis10.5
19chromophil adenoma of the kidney10.5TGFBR1, TGFBR2
20renal clear cell carcinoma10.4TGFB2, TGFB3
21spinal cancer10.3FBN1, TGFBR2
22cerebral aneurysms10.3
23intracranial aneurysm10.2
24cervicitis10.2
25aortic aneurysm10.2
26cardiomyopathy10.2
27acromesomelic dysplasia10.2SMAD3, TGFB3
28myocardial infarction10.0
29adrenoleukodystrophy10.0
30dilated cardiomyopathy10.0
31sleep apnea10.0
32obstructive sleep apnea10.0
33scoliosis10.0
34lens subluxation10.0
35heart disease10.0
36ehlers-danlos syndrome10.0
37thoracic aortic aneurysm10.0
38retinitis10.0
39aortic disease10.0
40aortic coarctation10.0
41coronary artery aneurysm10.0
42reversible cerebral vasoconstriction syndrome10.0
43encephalopathy10.0
44kommerell diverticulum10.0
45herpetic gastritis10.0FBN1, TGFB2, TGFB3
46diamond-blackfan anemia10.0TGFB1, TGFB2
47keratopathy9.9SMAD3, TGFB1
48west syndrome9.9TGFB2, TGFBR2
49fibrosclerosis of breast9.9TGFB1, TGFB2
50pulmonary venous return anomaly9.9FBN1, SMAD3, TGFBR1, TGFBR2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome:



Diseases related to loeys-dietz syndrome

Symptoms & Phenotypes for Loeys-Dietz Syndrome

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UMLS symptoms related to Loeys-Dietz Syndrome:


joint laxity

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.4MYEF2, TGFB2, TGFBR1, TGFBR2, TGIF1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3ACTA2, FBN1, TGFB1, TGFB2, TGFBR1, TGFBR2
2MP:00053718.3FBN1, GREM1, SMAD3, TGFB2, TGFB3, TGIF1
3MP:00053678.3FBN1, GREM1, SMAD3, TGFB1, TGFB2
4MP:00053818.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
5MP:00053918.3ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
6MP:00053887.9FBN1, GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
7MP:00053897.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGIF1
8MP:00053877.7FBN1, SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
9MP:00053827.7FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
10MP:00053807.0FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
11MP:00053906.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
12MP:00053846.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
13MP:00053856.8ACTA2, FBN1, SMAD3, TGFB1, TGFB2, TGFB3
14MP:00107686.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
15MP:00053786.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
16MP:00036316.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
17MP:00053766.7FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3

Drugs & Therapeutics for Loeys-Dietz Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
2Natural History and Genetics of Food Allergy and Related ConditionsRecruitingNCT02504853
3Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
4Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
5Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900

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 Syndrome27 24 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

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MalaCards organs/tissues related to Loeys-Dietz Syndrome:

36
Bone, Testes, Spinal cord, Heart

Publications for Loeys-Dietz Syndrome

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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Loeys-Dietz syndrome and pregnancy: The first ten years. (27780078)
2017
2
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. (28082467)
2017
3
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. (27919459)
2017
4
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. (27955909)
2017
5
Genetic testing of 10 patients with features of loeys-dietz syndrome. (26877057)
2016
6
Loeys-Dietz syndrome. (27625276)
2016
7
Massive hemoptysis in Loeys-Dietz syndrome. (26614122)
2016
8
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. (26897206)
2016
9
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. (26848186)
2016
10
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. (27733734)
2016
11
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. (27379784)
2016
12
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. (27521820)
2016
13
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. (26897209)
2016
14
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. (27100340)
2016
15
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. (27487644)
2016
16
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
17
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. (27440102)
2016
18
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. (27521346)
2016
19
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. (27173863)
2016
20
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. (27125181)
2016
21
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. (26301661)
2015
22
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. (26408217)
2015
23
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
24
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. (26184463)
2015
25
Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. (26948038)
2015
26
Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome. (26290839)
2015
27
Dysregulated TGF-I^ signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. (26173585)
2015
28
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome. (26652537)
2015
29
Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway. (26617788)
2015
30
Valve-sparing aortic root surgery in a patient with Loeys-Dietz syndrome. (25946772)
2015
31
Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3. (26409702)
2015
32
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
33
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. (26096872)
2015
34
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. (25564957)
2015
35
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. (26332884)
2015
36
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. (26555028)
2015
37
High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. (25740032)
2015
38
Angiotensin II-dependent TGF-I^ signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. (24355923)
2014
39
Percutanous closure of left ventricular aneurysms in a patient with Loeys-Dietz-Syndrome. (24399673)
2014
40
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. (24499874)
2014
41
Aortic reoperation in a patient with Loeys-Dietz syndrome. (24931266)
2014
42
Loeys-Dietz syndrome: a primer for diagnosis and management. (24577266)
2014
43
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
44
Curative reconstruction of a cerebral aneurysm by flow diversion with the Pipeline embolisation device in a patient with Loeys-Dietz syndrome. (25323276)
2014
45
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. (24798638)
2014
46
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
47
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum. (24194458)
2014
48
Cerebral aneurysm in a patient with Loeys-Dietz syndrome. (24966571)
2014
49
Surgical experience in a patient with Loeys-Dietz syndrome type I. (24792298)
2014
50
Loeys-Dietz syndrome. (24720765)
2014

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.1583G> A (p.Arg528His)SNVPathogenicrs104893815GRCh37Chr 3, 30732970: 30732970
2TGFBR2NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)SNVLikely pathogenic, Pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
3TGFBR1NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)SNVLikely pathogenic, Pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
4TGFBR1NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)SNVPathogenicrs113605875GRCh37Chr 9, 101911535: 101911535
5TGFBR1NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)SNVPathogenicrs111426349GRCh37Chr 9, 101911534: 101911534
6TGFBR2NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)SNVPathogenicrs727504292GRCh37Chr 3, 30713742: 30713742
7TGFBR2NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn)SNVLikely pathogenic, Pathogenicrs727504421GRCh37Chr 3, 30732957: 30732957
8TGFBR1NM_004612.3(TGFBR1): c.934G> A (p.Gly312Ser)SNVLikely 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
1
Show member pathways
9.9TGFB2, TGFBR1
29.5SMAD3, TGFBR1, TGFBR2
39.5SMAD3, TGFBR1, TGFBR2
59.0TGFB1, TGFB2, TGFB3
69.0TGFB1, TGFB2, TGFB3
7
Show member pathways
9.0TGFB1, TGFB2, TGFB3
89.0TGFB1, TGFB2, TGFB3
99.0TGFB1, TGFB2, TGFB3
10
Show member pathways
9.0TGFB1, TGFB2, TGFB3
119.0TGFB1, TGFB2, TGFB3
129.0TGFB1, TGFB2, TGFB3
139.0TGFB1, TGFB2, TGFB3
149.0TGFB1, TGFB2, TGFB3
158.7TGFB1, TGFB2, TGFBR1, TGFBR2
168.7TGFB1, TGFB2, TGFBR1, TGFBR2
178.7SMAD3, TGFB1, TGFBR1, TGFBR2
18
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
19
Show member pathways
8.7SMAD3, TGFB1, TGFBR1, TGFBR2
20
Show member pathways
8.7TGFB1, TGFB3, TGFBR1, TGFBR2
218.7TGFB1, TGFB3, TGFBR1, TGFBR2
22
Show member pathways
8.6SMAD3, TGFB1, TGFB2, TGFB3
23
Show member pathways
8.6SMAD3, TGFB1, TGFB2, TGFB3
24
Show member pathways
8.5FBN1, TGFB1, TGFB2, TGFB3
25
Show member pathways
8.5FBN1, TGFB1, TGFB2, TGFB3
268.5ACTA2, TGFB1, TGFB2, TGFB3
27
Show member pathways
8.4SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
28
Show member pathways
8.4SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
298.4TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
308.4TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
318.4SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
32
Show member pathways
8.1GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
338.1SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
34
Show member pathways
8.1SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
35
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
36
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
378.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
38
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
398.0SMAD3, 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
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
438.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
448.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
45
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
46
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
47
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
488.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
49
Show member pathways
8.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
508.0SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2

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:00700229.9TGFBR1, TGFBR2
2receptor complexGO:00432359.6SMAD3, TGFBR1, TGFBR2
3platelet alpha granule lumenGO:00310939.5TGFB1, TGFB2, TGFB3
4extracellular matrixGO:00310129.3FBN1, TGFB1, TGFB2, TGFB3
5cell surfaceGO:00099868.9GREM1, TGFB1, TGFB3, TGFBR1, TGFBR2
6extracellular spaceGO:00056158.2ACTA2, 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
1cardiac epithelial to mesenchymal transitionGO:006031710.7TGFB2, TGFBR1
2gastrulationGO:000736910.6SMAD3, TGFBR2
3positive regulation of epithelial cell migrationGO:001063410.6TGFB2, TGFBR2
4neuron fate commitmentGO:004866310.6TGFB2, TGFBR1
5activin receptor signaling pathwayGO:003292410.6SMAD3, TGFBR1
6positive regulation of filopodium assemblyGO:005149110.6TGFB3, TGFBR1
7positive regulation of occluding junction disassemblyGO:190507510.6TGFB3, TGFBR1
8odontogenesisGO:004247610.6TGFB2, TGFB3
9regulation of transforming growth factor beta2 productionGO:003290910.5SMAD3, TGFB2
10endothelial cell migrationGO:004354210.5GREM1, TGFBR1
11negative regulation of chondrocyte differentiationGO:003233110.4GREM1, TGFBR1
12negative regulation of osteoblast proliferationGO:003368910.4GREM1, SMAD3
13ventricular trabecula myocardium morphogenesisGO:000322210.4TGFB2, TGFBR1
14regulation of epithelial to mesenchymal transitionGO:001071710.4GREM1, TGFBR1
15embryonic cranial skeleton morphogenesisGO:004870110.3SMAD3, TGFBR1, TGFBR2
16positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.3TGFB2, TGFBR1, TGFBR2
17uterine wall breakdownGO:004270410.3TGFB2, TGFB3
18palate developmentGO:006002110.3TGFB3, TGFBR1, TGFBR2
19positive regulation of stress fiber assemblyGO:005149610.2SMAD3, TGFB3, TGFBR1
20signal transduction by protein phosphorylationGO:002301410.2TGFB2, TGFBR1, TGFBR2
21common-partner SMAD protein phosphorylationGO:000718210.2TGFB1, TGFBR2
22myeloid dendritic cell differentiationGO:004301110.2TGFB1, TGFBR2
23germ cell migrationGO:000835410.2TGFB1, TGFBR1
24collagen fibril organizationGO:003019910.1GREM1, TGFB2, TGFBR1
25negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
26endoderm developmentGO:000749210.1SMAD3, TGFB1
27evasion or tolerance of host defenses by virusGO:001904910.1SMAD3, TGFB1
28lens fiber cell differentiationGO:007030610.1SMAD3, TGFB1
29ventricular septum morphogenesisGO:006041210.1TGFB2, TGFBR1, TGFBR2
30positive regulation of protein localization to nucleusGO:190018210.1TGFB1, TGFB2
31negative regulation of mitotic cell cycleGO:004593010.1SMAD3, TGFB1
32positive regulation of extracellular matrix assemblyGO:190120310.1SMAD3, TGFB1
33frontal suture morphogenesisGO:006036410.1TGFB1, TGFB3
34mammary gland developmentGO:003087910.1TGFB1, TGFB3
35negative regulation of DNA replicationGO:000815610.1TGFB1, TGFB3
36ossification involved in bone remodelingGO:004393210.1TGFB1, TGFB3
37positive regulation of collagen biosynthetic processGO:003296710.1TGFB1, TGFB3
38cellular response to insulin-like growth factor stimulusGO:199031410.0FBN1, TGFB1
39regulation of bindingGO:005109810.0SMAD3, TGFB1
40regulation of striated muscle tissue developmentGO:001620210.0SMAD3, TGFB1
41regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.0SMAD3, TGFB1
42regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500510.0TGFB1, TGFB3
43in utero embryonic developmentGO:000170110.0SMAD3, TGFB3, TGFBR1, TGFBR2
44heart developmentGO:000750710.0FBN1, TGFB2, TGFBR1, TGFBR2
45response to laminar fluid shear stressGO:00346169.9TGFB1, TGFB3
46SMAD protein complex assemblyGO:00071839.9SMAD3, TGFB1
47positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.9GREM1, TGFB1
48positive regulation of cardiac muscle cell differentiationGO:20007279.9GREM1, TGFB1
49epithelial to mesenchymal transitionGO:00018379.8TGFB1, TGFB2, TGFBR1
50agingGO:00075689.8TGFB1, TGFB3, TGFBR2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.2TGFBR1, TGFBR2
2co-SMAD bindingGO:007041010.2SMAD3, TGIF1
3SMAD bindingGO:004633210.1SMAD3, TGFBR1, TGFBR2
4transforming growth factor beta bindingGO:005043110.0TGFB3, TGFBR1, TGFBR2
5growth factor activityGO:00080839.6TGFB1, TGFB2, TGFB3
6transforming growth factor beta receptor bindingGO:00051609.4SMAD3, TGFB1, TGFB2
7type I transforming growth factor beta receptor bindingGO:00347139.2TGFB1, TGFB3, TGFBR2
8protein heterodimerization activityGO:00469829.2SMAD3, TGFB1, TGFB2, TGFB3
9cytokine activityGO:00051259.1GREM1, TGFB1, TGFB2, TGFB3
10type III transforming growth factor beta receptor bindingGO:00347149.0TGFB1, TGFB2, TGFB3
11type II transforming growth factor beta receptor bindingGO:00051148.7TGFB1, TGFB2, TGFB3, TGFBR1

Sources for Loeys-Dietz Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet