LDS
MCID: LYS001
MIFTS: 58

Loeys-Dietz Syndrome (LDS) 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 1 and loeys-dietz syndrome 3, and has symptoms including joint laxity, tall stature and bifid uvula. 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 TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition. Affiliated tissues include bone, heart and eye, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and digestive/alimentary.

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.

Wikipedia:71 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. The... more...

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 71)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome 112.5
2loeys-dietz syndrome 312.5
3loeys-dietz syndrome 412.5
4loeys-dietz syndrome 512.5
5loeys-dietz syndrome 212.5
6marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections12.1
7smad3-related loeys-dietz syndrome12.1
8tgfb2-related loeys-dietz syndrome12.1
9tgfb3-related loeys-dietz syndrome12.1
10smad4-related loeys-dietz syndrome12.1
11tgfbr1-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
17cerebritis10.5
18aortic aneurysm10.3
19cerebral aneurysms10.3
20infective dermatitis associated with htlv-110.2TGFBR1, TGFBR2
21intracranial aneurysm10.2
22thoracic aortic aneurysm10.2
23cervicitis10.2
24cardiomyopathy10.2
25thalassemia minor10.2TGFB2, TGFB3
26inflammatory breast carcinoma10.2TGFBR1, TGFBR2
27legionaire disease10.2TGFB2, TGFB3
28renal tubular transport disease10.1TGFB2, TGFB3
29myocardial infarction10.0
30adrenoleukodystrophy10.0
31arteriovenous fistula10.0
32dilated cardiomyopathy10.0
33distal arthrogryposis10.0
34sleep apnea10.0
35obstructive sleep apnea10.0
36scoliosis10.0
37lens subluxation10.0
38heart disease10.0
39ehlers-danlos syndrome10.0
40retinitis10.0
41aortic disease10.0
42aortic coarctation10.0
43coronary artery aneurysm10.0
44reversible cerebral vasoconstriction syndrome10.0
45encephalopathy10.0
46kommerell diverticulum10.0
47contact lens corneal edema10.0FBN1, TGFB2, TGFB3
48neuropathy, hereditary sensory and autonomic, type vi10.0ACTA2, FBN1, TGFBR2
49febrile ulceronecrotic mucha-habermann disease10.0FBN1, SMAD3, TGFBR1, TGFBR2
50adenosquamous breast carcinoma10.0FBN1, 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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Human phenotypes related to Loeys-Dietz Syndrome:

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 tall stature64 HP:0000098
2 bifid uvula64 HP:0000193
3 oral cleft64 HP:0000202
4 high palate64 HP:0000218
5 malar flattening64 HP:0000272
6 hypertelorism64 HP:0000316
7 micrognathia64 HP:0000347
8 blue sclerae64 HP:0000592
9 pectus excavatum64 HP:0000767
10 pectus carinatum64 HP:0000768
11 thin skin64 HP:0000963
12 bruising susceptibility64 HP:0000978
13 atypical scarring of skin64 HP:0000987
14 striae distensae64 HP:0001065
15 arachnodactyly64 HP:0001166
16 craniosynostosis64 HP:0001363
17 joint dislocation64 HP:0001373
18 patent ductus arteriosus64 HP:0001643
19 cardiac arrest64 HP:0001695
20 pes planus64 HP:0001763
21 aortic dissection64 HP:0002647
22 scoliosis64 HP:0002650
23 aortic aneurysm64 HP:0004942
24 arterial tortuosity64 HP:0005116
25 arterial dissection64 HP:0005294
26 joint hyperflexibility64 HP:0005692
27 camptodactyly of finger64 HP:0100490
28 uterine rupture64 HP:0100718

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-1928.1MYEF2, TGFB2, TGFBR1, TGFBR2, TGIF1

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

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
2MP:00053698.4ACTA2, FBN1, TGFB1, TGFB2, TGFBR1, TGFBR2
3MP:00053718.2FBN1, GREM1, SMAD3, TGFB2, TGFB3, TGIF1
4MP:00053828.2FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
5MP:00053917.9ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
6MP:00053877.5FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
7MP:00053887.3FBN1, GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
8MP:00053807.2FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
9MP:00053767.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
10MP:00053907.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
11MP:00107687.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
12MP:00053847.0FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
13MP:00053857.0ACTA2, FBN1, SMAD3, TGFB1, TGFB2, TGFB3
14MP:00053787.0FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
15MP:00036316.9FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3

Drugs & Therapeutics for Loeys-Dietz Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesCompletedNCT02213484
2National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
3Natural History and Genetics of Food Allergy and Related ConditionsRecruitingNCT02504853
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, Heart, Eye, Brain, Skin, Testes, Spinal cord

Publications for Loeys-Dietz Syndrome

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Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Extreme phenotypes of Loeys Dietz syndrome. (28225382)
2017
2
Loeys-Dietz syndrome and pregnancy: The first ten years. (27780078)
2017
3
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. (28230898)
2017
4
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. (28163941)
2017
5
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? (28209770)
2017
6
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. (27955909)
2017
7
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. (28082467)
2017
8
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. (27919459)
2017
9
Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation. (28395736)
2017
10
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. (28304197)
2017
11
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. (28252349)
2017
12
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. (28344185)
2017
13
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. (28366467)
2017
14
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. (27440102)
2016
15
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. (27521346)
2016
16
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. (27521820)
2016
17
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. (27181042)
2016
18
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. (26897206)
2016
19
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. (27100340)
2016
20
Genetic testing of 10 patients with features of loeys-dietz syndrome. (26877057)
2016
21
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. (27733734)
2016
22
Loeys-Dietz syndrome (TGFI^R2A mutation) in a 4-year-old child with thoracic aortic aneurysm]. (27017362)
2016
23
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. (27487644)
2016
24
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. (27125181)
2016
25
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
26
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. (27379784)
2016
27
Loeys-Dietz syndrome. (27625276)
2016
28
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. (26897209)
2016
29
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. (26848186)
2016
30
Massive hemoptysis in Loeys-Dietz syndrome. (26614122)
2016
31
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. (27173863)
2016
32
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. (26555028)
2015
33
Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3. (26409702)
2015
34
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. (26301661)
2015
35
Valve-sparing aortic root surgery in a patient with Loeys-Dietz syndrome. (25946772)
2015
36
Dysregulated TGF-I^ signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. (26173585)
2015
37
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome. (26652537)
2015
38
Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway. (26617788)
2015
39
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. (26184463)
2015
40
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. (26096872)
2015
41
Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome. (26290839)
2015
42
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
43
Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. (26948038)
2015
44
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. (26408217)
2015
45
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. (25689361)
2015
46
High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. (25740032)
2015
47
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. (25564957)
2015
48
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. (26332884)
2015
49
Loeys-Dietz syndrome. (24443023)
2014
50
Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways? (24355917)
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)SNVPathogenic/ Likely pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
3TGFBR1NM_ 004612.3(TGFBR1): c.722C> T (p.Ser241Leu)SNVPathogenic/ Likely 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)SNVPathogenicrs727504292GRCh38Chr 3, 30672250: 30672250
7TGFBR2NM_ 003242.5(TGFBR2): c.1570G> A (p.Asp524Asn)SNVPathogenic/ Likely 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 73)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9TGFB2, TGFBR1
29.6SMAD3, TGFB1
39.5SMAD3, TGFBR1, TGFBR2
49.5SMAD3, TGFBR1, TGFBR2
59.4ACTA2, SMAD3, TGFBR1
69.3TGFB1, TGFB2, TGFBR2
79.3SMAD3, TGFB1, TGFBR1
8
Show member pathways
9.3TGFB1, TGFB2, TGFB3
9
Show member pathways
9.3TGFB1, TGFB2, TGFB3
109.3TGFB1, TGFB2, TGFB3
119.3TGFB1, TGFB2, TGFB3
12
Show member pathways
9.3TGFB1, TGFB2, TGFB3
139.3TGFB1, TGFB2, TGFB3
149.3TGFB1, TGFB2, TGFB3
159.3TGFB1, TGFB2, TGFB3
169.3TGFB1, TGFB2, TGFB3
17
Show member pathways
9.3TGFB1, TGFB2, TGFB3
189.3TGFB1, TGFB2, TGFB3
199.3TGFB1, TGFB2, TGFB3
209.1FBN1, SMAD3, TGFBR1, TGFBR2
229.0TGFB1, TGFB2, TGFBR1, TGFBR2
239.0TGFB1, TGFB2, TGFBR1, TGFBR2
24
Show member pathways
9.0SMAD3, TGFB1, TGFBR1, TGFBR2
259.0SMAD3, TGFB1, TGFBR1, TGFBR2
26
Show member pathways
9.0SMAD3, TGFB1, TGFBR1, TGFBR2
27
Show member pathways
9.0SMAD3, TGFB1, TGFBR1, TGFBR2
28
Show member pathways
9.0SMAD3, TGFB1, TGFBR1, TGFBR2
29
Show member pathways
9.0TGFB1, TGFB3, TGFBR1, TGFBR2
309.0TGFB1, TGFB3, TGFBR1, TGFBR2
31
Show member pathways
8.9SMAD3, TGFB1, TGFB2, TGFB3
32
Show member pathways
8.8FBN1, TGFB1, TGFB2, TGFB3
33
Show member pathways
8.8FBN1, TGFB1, TGFB2, TGFB3
34
Show member pathways
8.8MYEF2, TGFB1, TGFBR1
358.8ACTA2, TGFB1, TGFB2, TGFB3
36
Show member pathways
8.7SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
37
Show member pathways
8.7SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
38
Show member pathways
8.7TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
398.7TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
40
Show member pathways
8.7SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
41
Show member pathways
8.5GREM1, SMAD3, TGFB1, TGFBR1, TGFBR2
42
Show member pathways
8.4GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
43
Show member pathways
8.4SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
44
Show member pathways
8.4SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
45
Show member pathways
8.4SMAD3, TGFB1, TGFBR1, TGFBR2, TGIF1
46
Show member pathways
8.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
478.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
48
Show member pathways
8.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
498.3SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
508.3SMAD3, 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 complexGO:00700229.9TGFBR1, TGFBR2
2platelet alpha granule lumenGO:00310939.8TGFB1, TGFB2, TGFB3
3receptor complexGO:00432359.6SMAD3, TGFBR1, TGFBR2
4extracellular matrixGO:00310129.6FBN1, TGFB1, TGFB2, TGFB3
5cell surfaceGO:00099869.2GREM1, TGFB1, TGFB3, TGFBR1, TGFBR2
6extracellular spaceGO:00056158.5ACTA2, FBN1, GREM1, TGFB1, TGFB2, TGFB3

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

(show top 50)    (show all 95)
idNameGO IDScoreTop Affiliating Genes
1atrioventricular valve morphogenesisGO:000318110.7TGFB2, TGFBR2
2endocardial cushion fusionGO:000327410.7TGFB2, TGFBR2
3membranous septum morphogenesisGO:000314910.7TGFB2, TGFBR2
4cardiac epithelial to mesenchymal transitionGO:006031710.7TGFB2, TGFBR1
5outflow tract septum morphogenesisGO:000314810.6TGFB2, TGFBR2
6gastrulationGO:000736910.6SMAD3, TGFBR2
7activin receptor signaling pathwayGO:003292410.6SMAD3, TGFBR1
8neuron fate commitmentGO:004866310.6TGFB2, TGFBR1
9odontogenesisGO:004247610.6TGFB2, TGFB3
10positive regulation of filopodium assemblyGO:005149110.6TGFB3, TGFBR1
11positive regulation of occluding junction disassemblyGO:190507510.5TGFB3, TGFBR1
12regulation of transforming growth factor beta2 productionGO:003290910.5SMAD3, TGFB2
13common-partner SMAD protein phosphorylationGO:000718210.5TGFB1, TGFBR2
14myeloid dendritic cell differentiationGO:004301110.5TGFB1, TGFBR2
15transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.4TGFBR1, TGFBR2
16endothelial cell migrationGO:004354210.4GREM1, TGFBR1
17germ cell migrationGO:000835410.4TGFB1, TGFBR1
18negative regulation of chondrocyte differentiationGO:003233110.4GREM1, TGFBR1
19heart valve morphogenesisGO:000317910.4TGFB1, TGFB2
20negative regulation of immune responseGO:005077710.4TGFB1, TGFB2
21endoderm developmentGO:000749210.4SMAD3, TGFB1
22evasion or tolerance of host defenses by virusGO:001904910.4SMAD3, TGFB1
23lens fiber cell differentiationGO:007030610.4SMAD3, TGFB1
24negative regulation of osteoblast proliferationGO:003368910.4GREM1, SMAD3
25negative regulation of mitotic cell cycleGO:004593010.4SMAD3, TGFB1
26positive regulation of protein localization to nucleusGO:190018210.4TGFB1, TGFB2
27ventricular trabecula myocardium morphogenesisGO:000322210.4TGFB2, TGFBR1
28frontal suture morphogenesisGO:006036410.4TGFB1, TGFB3
29regulation of epithelial to mesenchymal transitionGO:001071710.4GREM1, TGFBR1
30mammary gland developmentGO:003087910.4TGFB1, TGFB3
31positive regulation of extracellular matrix assemblyGO:190120310.4SMAD3, TGFB1
32negative regulation of DNA replicationGO:000815610.4TGFB1, TGFB3
33ossification involved in bone remodelingGO:004393210.4TGFB1, TGFB3
34positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.4SMAD3, TGFB1
35embryonic cranial skeleton morphogenesisGO:004870110.3SMAD3, TGFBR1, TGFBR2
36cellular response to insulin-like growth factor stimulusGO:199031410.3FBN1, TGFB1
37uterine wall breakdownGO:004270410.3TGFB2, TGFB3
38positive regulation of collagen biosynthetic processGO:003296710.3TGFB1, TGFB3
39regulation of bindingGO:005109810.3SMAD3, TGFB1
40positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.3TGFB2, TGFBR1, TGFBR2
41regulation of striated muscle tissue developmentGO:001620210.3SMAD3, TGFB1
42regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.3SMAD3, TGFB1
43regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500510.3TGFB1, TGFB3
44response to laminar fluid shear stressGO:003461610.2TGFB1, TGFB3
45SMAD protein complex assemblyGO:000718310.2SMAD3, TGFB1
46kidney developmentGO:000182210.2FBN1, TGFB2, TGFBR1
47signal transduction by protein phosphorylationGO:002301410.2TGFB2, TGFBR1, TGFBR2
48positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2GREM1, TGFB1
49positive regulation of cardiac muscle cell differentiationGO:200072710.2GREM1, TGFB1
50positive regulation of stress fiber assemblyGO:005149610.2SMAD3, TGFB3, TGFBR1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.3TGFBR1, TGFBR2
2transmembrane receptor protein serine/threonine kinase activityGO:000467510.2TGFBR1, TGFBR2
3co-SMAD bindingGO:007041010.2SMAD3, TGIF1
4signal transducer, downstream of receptor, with serine/threonine kinase activityGO:000470210.1TGFB2, TGFBR1, TGFBR2
5SMAD bindingGO:004633210.1SMAD3, TGFBR1, TGFBR2
6transforming growth factor beta bindingGO:005043110.0TGFB3, TGFBR1, TGFBR2
7growth factor activityGO:00080839.9TGFB1, TGFB2, TGFB3
8type I transforming growth factor beta receptor bindingGO:00347139.5TGFB1, TGFB3, TGFBR2
9protein heterodimerization activityGO:00469829.5SMAD3, TGFB1, TGFB2, TGFB3
10cytokine activityGO:00051259.4GREM1, TGFB1, TGFB2, TGFB3
11transforming growth factor beta receptor bindingGO:00051609.3SMAD3, TGFB1, TGFB2, TGFB3
12type III transforming growth factor beta receptor bindingGO:00347149.3TGFB1, TGFB2, TGFB3
13type II transforming growth factor beta receptor bindingGO:00051149.0TGFB1, 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