MCID: LYS001
MIFTS: 58

Loeys-Dietz Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Loeys-Dietz Syndrome

MalaCards integrated aliases for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 12 23 49 24 36 28 41 14 69
Loeys-Dietz Aortic Aneurysm Syndrome 23 49 24 69
Furlong Syndrome 49 69
Aortic Aneurysm Syndrome, Loeys-Dietz Type 49
Lds 24

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:



Summaries for Loeys-Dietz Syndrome

NIH Rare Diseases : 49 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 aneurysm, and has symptoms including tall stature, bifid uvula and oral cleft. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are MAPK signaling pathway and Cytokine-cytokine receptor interaction. Affiliated tissues include bone, heart and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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.

Wikipedia : 72 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

GeneReviews: NBK1133

Related Diseases for Loeys-Dietz Syndrome

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 4 34.6 TGFB2 TGFB3
2 aneurysm 30.6 ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
3 marfan syndrome 30.6 ACTA2 FBN1 TGFBR1 TGFBR2
4 aortic disease 29.5 ACTA2 FBN1 TGFB2 TGFBR1 TGFBR2
5 aortic aneurysm 29.5 ACTA2 FBN1 SMAD3 TGFB2 TGFBR1 TGFBR2
6 aortic aneurysm, familial thoracic 1 28.8 ACTA2 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
7 loeys-dietz syndrome 3 12.7
8 loeys-dietz syndrome 1 12.7
9 loeys-dietz syndrome 2 12.7
10 loeys-dietz syndrome 5 12.6
11 lipoprotein types--ld system 11.9
12 shprintzen-goldberg craniosynostosis syndrome 11.3
13 cerebritis 10.5
14 transient hypogammaglobulinemia of infancy 10.4 TGFBR1 TGFBR2
15 transient hypogammaglobulinemia 10.4 TGFBR1 TGFBR2
16 intracranial aneurysm 10.3
17 cerebral aneurysms 10.3
18 multiple self-healing squamous epithelioma 10.3 TGFBR1 TGFBR2
19 eisenmenger syndrome 10.3 TGFBR1 TGFBR2
20 multilocular clear cell renal cell carcinoma 10.3 TGFB2 TGFB3
21 dental pulp calcification 10.3 FBN1 TGFBR2
22 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.3
23 ehlers-danlos syndrome 10.3
24 cervicitis 10.3
25 stiff skin syndrome 10.2 FBN1 TGFB2
26 tuberculoid leprosy 10.2 TGFB2 TGFB3
27 hypertrophic scars 10.2 SMAD3 TGFB3
28 gastric cardia adenocarcinoma 10.2 TGFBR1 TGFBR2
29 hypochondrogenesis 10.2 SMAD3 TGFB3
30 keloids 10.2 SMAD3 TGFB3
31 familial abdominal aortic aneurysm 10.2 COL3A1 FBN1
32 ehlers-danlos syndrome, hypermobility type 10.1 COL3A1 FBN1
33 tendinosis 10.1 TGFB2 TGFBR2
34 keratopathy 10.1 FBN1 TGFB2
35 apnea, obstructive sleep 10.1
36 blood group, i system 10.1
37 osteoporosis 10.1
38 atrophoderma vermiculata 10.1
39 adrenoleukodystrophy 10.1
40 myocardial infarction 10.1
41 bone mineral density quantitative trait locus 8 10.1
42 bone mineral density quantitative trait locus 15 10.1
43 episodic pain syndrome, familial, 1 10.1
44 arteriovenous fistula 10.1
45 dilated cardiomyopathy 10.1
46 distal arthrogryposis 10.1
47 sleep apnea 10.1
48 scoliosis 10.1
49 lens subluxation 10.1
50 heart disease 10.1

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



Diseases related to Loeys-Dietz Syndrome

Symptoms & Phenotypes for Loeys-Dietz Syndrome

Human phenotypes related to Loeys-Dietz Syndrome:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 tall stature 31 frequent (33%) HP:0000098
2 bifid uvula 31 frequent (33%) HP:0000193
3 oral cleft 31 frequent (33%) HP:0000202
4 high palate 31 hallmark (90%) HP:0000218
5 malar flattening 31 frequent (33%) HP:0000272
6 hypertelorism 31 frequent (33%) HP:0000316
7 micrognathia 31 frequent (33%) HP:0000347
8 blue sclerae 31 frequent (33%) HP:0000592
9 pectus excavatum 31 occasional (7.5%) HP:0000767
10 pectus carinatum 31 occasional (7.5%) HP:0000768
11 thin skin 31 occasional (7.5%) HP:0000963
12 bruising susceptibility 31 occasional (7.5%) HP:0000978
13 atypical scarring of skin 31 frequent (33%) HP:0000987
14 striae distensae 31 frequent (33%) HP:0001065
15 arachnodactyly 31 frequent (33%) HP:0001166
16 craniosynostosis 31 frequent (33%) HP:0001363
17 joint dislocation 31 occasional (7.5%) HP:0001373
18 patent ductus arteriosus 31 hallmark (90%) HP:0001643
19 cardiac arrest 31 occasional (7.5%) HP:0001695
20 pes planus 31 hallmark (90%) HP:0001763
21 aortic dissection 31 hallmark (90%) HP:0002647
22 scoliosis 31 frequent (33%) HP:0002650
23 aortic aneurysm 31 hallmark (90%) HP:0004942
24 arterial tortuosity 31 hallmark (90%) HP:0005116
25 arterial dissection 31 hallmark (90%) HP:0005294
26 joint hyperflexibility 31 occasional (7.5%) HP:0005692
27 camptodactyly of finger 31 frequent (33%) HP:0100490
28 uterine rupture 31 hallmark (90%) HP:0100718

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

25 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.02 MYEF2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.02 MYEF2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.02 TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.02 TGIF1 TGFBR1 TGFBR2 MYEF2 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.02 TGFB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.02 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.02 TGFBR2 MYEF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.02 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.02 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.02 TGFB2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.02 MYEF2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.02 TGFB2 TGIF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.02 TGIF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.02 TGFBR1 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.02 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.02 TGIF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.02 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.02 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.02 TGIF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.02 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.02 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.02 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.02 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.02 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.02 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.02 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.02 TGIF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.02 TGFBR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.02 TGFBR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.02 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.02 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.02 TGFB2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.02 TGIF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.02 TGIF1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.02 TGFBR2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.02 TGFB2 TGFBR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.02 TGFBR2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.02 TGFBR1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.02 TGFBR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.02 TGIF1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.02 MYEF2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.02 MYEF2

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 FBN1 TGFB2 ACTA2 COL3A1 SMAD3 TGIF1
2 cellular MP:0005384 10.19 FBN1 TGFB2 GREM1 COL3A1 SMAD3 TGIF1
3 growth/size/body region MP:0005378 10.13 FBN1 TGFB2 GREM1 COL3A1 SMAD3 TGFB3
4 homeostasis/metabolism MP:0005376 10.11 SMAD3 FBN1 GREM1 COL3A1 TGFB3 TGIF1
5 embryo MP:0005380 10.1 FBN1 TGFB2 GREM1 SMAD3 TGIF1 TGFBR1
6 immune system MP:0005387 10.03 SMAD3 FBN1 COL3A1 TGFBR2 TGFB3 TGIF1
7 mortality/aging MP:0010768 10.02 SMAD3 FBN1 GREM1 COL3A1 TGFBR2 TGFB3
8 craniofacial MP:0005382 10 FBN1 TGFB2 SMAD3 TGIF1 TGFBR2 TGFB3
9 digestive/alimentary MP:0005381 9.99 SMAD3 TGFB2 COL3A1 TGFB3 TGFBR1 TGFBR2
10 limbs/digits/tail MP:0005371 9.88 FBN1 TGFB2 GREM1 SMAD3 TGIF1 TGFB3
11 nervous system MP:0003631 9.86 SMAD3 FBN1 GREM1 TGFBR2 TGFB3 TGFBR1
12 muscle MP:0005369 9.8 FBN1 ACTA2 COL3A1 TGFBR2 TGFBR1 TGFB2
13 respiratory system MP:0005388 9.76 FBN1 TGFB2 GREM1 COL3A1 TGIF1 TGFBR1
14 skeleton MP:0005390 9.56 FBN1 TGFB2 GREM1 SMAD3 TGIF1 TGFBR1
15 vision/eye MP:0005391 9.1 SMAD3 ACTA2 TGFBR2 TGFB3 TGFB2 TGIF1

Drugs & Therapeutics for Loeys-Dietz Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
2 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
3 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
4 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533
5 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
6 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900

Search NIH Clinical Center for Loeys-Dietz Syndrome

Cochrane evidence based reviews: loeys-dietz syndrome

Genetic Tests for Loeys-Dietz Syndrome

Genetic tests related to Loeys-Dietz Syndrome:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 28

Anatomical Context for Loeys-Dietz Syndrome

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

38
Bone, Heart, Eye, Brain, Skin, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 182)
# Title Authors Year
1
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. ( 29339704 )
2018
2
Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. ( 29320330 )
2018
3
Clip ligation for ruptured intracranial aneurysm in a child with Loeys-Dietz syndrome: case report. ( 29350591 )
2018
4
Teaching Neuro<i>Images</i>: Rare cause of Horner syndrome in Loeys-Dietz syndrome. ( 28972113 )
2017
5
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017
6
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )
2017
7
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
8
Loeys-Dietz syndrome with aortic wall necrosis secondary to external wrapping. ( 29293973 )
2017
9
Ocular findings in Loeys-Dietz syndrome. ( 29146755 )
2017
10
Perioperative Anesthetic Management for Cesarean Delivery in a Parturient With Type IV Loeys-Dietz Syndrome: A Case Report. ( 28604473 )
2017
11
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
12
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
13
4.7a88Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. ( 28544325 )
2017
14
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
15
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
16
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 29022822 )
2017
17
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )
2017
18
Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome. ( 28606209 )
2017
19
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )
2017
20
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
21
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. ( 28541520 )
2017
22
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
23
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
24
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )
2017
25
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
26
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
27
Stepwise Total Aortic Repairs With Fenestrated Endografts in a Patient With Loeys-Dietz Syndrome. ( 28633258 )
2017
28
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-I^ signaling. ( 28679693 )
2017
29
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
30
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )
2016
31
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. ( 26897209 )
2016
32
Loeys-Dietz syndrome. ( 27625276 )
2016
33
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. ( 27125181 )
2016
34
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )
2016
35
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. ( 27181042 )
2016
36
[Loeys-Dietz syndrome (TGFI^R2A mutation) in a 4-year-old child with thoracic aortic aneurysm]. ( 27017362 )
2016
37
Genetic testing of 10 patients with features of loeys-dietz syndrome. ( 26877057 )
2016
38
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )
2016
39
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. ( 27173863 )
2016
40
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. ( 27521820 )
2016
41
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. ( 26848186 )
2016
42
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. ( 27487644 )
2016
43
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. ( 27521346 )
2016
44
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. ( 26897206 )
2016
45
Massive hemoptysis in Loeys-Dietz syndrome. ( 26614122 )
2016
46
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. ( 27100340 )
2016
47
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. ( 26184463 )
2015
48
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. ( 26555028 )
2015
49
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. ( 26096872 )
2015
50
Dysregulated TGF-I^ signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. ( 26173585 )
2015

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
2 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
3 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
4 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
5 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
6 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh37 Chromosome 3, 30713742: 30713742
7 TGFBR2 NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn) single nucleotide variant Pathogenic/Likely pathogenic rs727504421 GRCh37 Chromosome 3, 30732957: 30732957

Expression for Loeys-Dietz Syndrome

Search GEO for disease gene expression data for Loeys-Dietz Syndrome.

Pathways for Loeys-Dietz Syndrome

Pathways related to Loeys-Dietz Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Cytokine-cytokine receptor interaction hsa04060
3 Endocytosis hsa04144
4 TGF-beta signaling pathway hsa04350
5 Osteoclast differentiation hsa04380
6 Hippo signaling pathway hsa04390
7 Adherens junction hsa04520

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

(show top 50) (show all 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ACTA2 COL3A1 FBN1 SMAD3 TGFB2 TGFB3
2
Show member pathways
13.27 ACTA2 COL3A1 FBN1 TGFB2 TGFB3 TGFBR1
3
Show member pathways
13.23 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
4
Show member pathways
13.02 ACTA2 COL3A1 FBN1 TGFB2 TGFB3 TGFBR1
5
Show member pathways
12.98 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
6
Show member pathways
12.87 ACTA2 TGFB2 TGFB3 TGFBR1 TGFBR2
7 12.79 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.72 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
9 12.68 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.67 COL3A1 FBN1 TGFB2 TGFB3
11
Show member pathways
12.58 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12
Show member pathways
12.55 ACTA2 COL3A1 SMAD3 TGFBR1 TGFBR2
13
Show member pathways
12.52 SMAD3 TGFB2 TGFB3 TGFBR1
14
Show member pathways
12.51 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15
Show member pathways
12.45 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
16 12.4 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
17
Show member pathways
12.27 SMAD3 TGFBR1 TGFBR2 TGIF1
18 12.26 SMAD3 TGFB2 TGFB3
19 12.23 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
20
Show member pathways
12.2 SMAD3 TGFB2 TGFBR1 TGFBR2
21 12.16 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22 12.13 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
23 12.1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
24
Show member pathways
12.08 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
25 12.07 SMAD3 TGFBR1 TGFBR2 TGIF1
26
Show member pathways
12.05 SMAD3 TGFBR1 TGFBR2
27 12.02 ACTA2 SMAD3 TGFBR1
28
Show member pathways
12.01 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
29 11.99 TGFB2 TGFBR1 TGFBR2
30 11.86 COL3A1 TGFB2 TGFB3
31 11.85 ACTA2 TGFB2 TGFB3
32
Show member pathways
11.84 SMAD3 TGFBR1 TGFBR2
33 11.84 GREM1 TGFB2 TGFB3 TGFBR1
34 11.81 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
35
Show member pathways
11.76 GREM1 SMAD3 TGFBR1 TGFBR2
36
Show member pathways
11.73 FBN1 TGFB2 TGFB3
37
Show member pathways
11.73 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
38 11.73 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
39 11.72 SMAD3 TGFBR1 TGFBR2
40 11.71 SMAD3 TGFBR1 TGFBR2
41
Show member pathways
11.7 SMAD3 TGFBR1 TGFBR2
42 11.62 SMAD3 TGFBR1 TGFBR2 TGIF1
43 11.54 SMAD3 TGFB3 TGFBR1 TGFBR2
44
Show member pathways
11.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
45 11.53 TGFB2 TGFBR1 TGFBR2
46 11.38 ACTA2 TGFB2 TGFB3 TGFBR1 TGFBR2
47 11.36 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1
48
Show member pathways
11.28 TGFB2 TGFB3
49 11.25 TGFB2 TGFBR1
50
Show member pathways
11.25 TGFB3 TGFBR1 TGFBR2

GO Terms for Loeys-Dietz Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 ACTA2 COL3A1 FBN1 GREM1 TGFB2 TGFB3
2 cell surface GO:0009986 9.62 GREM1 TGFB3 TGFBR1 TGFBR2
3 receptor complex GO:0043235 9.33 SMAD3 TGFBR1 TGFBR2
4 extracellular matrix GO:0031012 9.26 COL3A1 FBN1 TGFB2 TGFB3
5 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.98 SMAD3 TGFB2 TGFB3 TGFBR2
2 in utero embryonic development GO:0001701 9.91 SMAD3 TGFB3 TGFBR1 TGFBR2
3 angiogenesis GO:0001525 9.9 GREM1 TGFB2 TGFBR1
4 heart development GO:0007507 9.88 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
5 aging GO:0007568 9.87 COL3A1 TGFB3 TGFBR2
6 response to hypoxia GO:0001666 9.87 SMAD3 TGFB2 TGFB3 TGFBR2
7 cell cycle arrest GO:0007050 9.86 SMAD3 TGFB2 TGFBR1
8 negative regulation of cell growth GO:0030308 9.84 GREM1 SMAD3 TGFB2
9 kidney development GO:0001822 9.83 FBN1 TGFB2 TGFBR1
10 SMAD protein signal transduction GO:0060395 9.8 SMAD3 TGFB2 TGFB3
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 FBN1 SMAD3 TGFBR1
12 palate development GO:0060021 9.8 TGFB2 TGFB3 TGFBR1 TGFBR2
13 positive regulation of stress fiber assembly GO:0051496 9.77 SMAD3 TGFB3 TGFBR1
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 TGFB2 TGFB3 TGFBR1
15 skeletal system development GO:0001501 9.77 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
16 embryonic cranial skeleton morphogenesis GO:0048701 9.73 SMAD3 TGFBR1 TGFBR2
17 positive regulation of epithelial cell migration GO:0010634 9.72 TGFB2 TGFBR2
18 lens development in camera-type eye GO:0002088 9.72 TGFBR1 TGFBR2
19 digestive tract development GO:0048565 9.72 COL3A1 TGFB3 TGFBR2
20 gastrulation GO:0007369 9.71 SMAD3 TGFBR2
21 positive regulation of bone mineralization GO:0030501 9.71 SMAD3 TGFB3
22 odontogenesis GO:0042476 9.71 TGFB2 TGFB3
23 endothelial cell migration GO:0043542 9.71 GREM1 TGFBR1
24 ventricular septum morphogenesis GO:0060412 9.71 TGFB2 TGFBR1 TGFBR2
25 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.71 SMAD3 TGFB3 TGFBR1 TGFBR2
26 cell growth GO:0016049 9.7 TGFB2 TGFB3
27 positive regulation of filopodium assembly GO:0051491 9.7 TGFB3 TGFBR1
28 outflow tract septum morphogenesis GO:0003148 9.7 TGFB2 TGFBR2
29 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.69 SMAD3 TGFB2
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 TGFBR1 TGFBR2
31 cell-cell junction organization GO:0045216 9.69 SMAD3 TGFB2 TGFB3
32 negative regulation of chondrocyte differentiation GO:0032331 9.68 GREM1 TGFBR1
33 activin receptor signaling pathway GO:0032924 9.68 SMAD3 TGFBR1
34 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 TGFB2 TGFBR1
35 negative regulation of immune response GO:0050777 9.67 COL3A1 TGFB2
36 regulation of epithelial to mesenchymal transition GO:0010717 9.66 GREM1 TGFBR1
37 cardiac epithelial to mesenchymal transition GO:0060317 9.66 TGFB2 TGFBR1
38 atrioventricular valve morphogenesis GO:0003181 9.65 TGFB2 TGFBR2
39 response to cholesterol GO:0070723 9.65 TGFBR1 TGFBR2
40 salivary gland morphogenesis GO:0007435 9.64 TGFB2 TGFB3
41 membranous septum morphogenesis GO:0003149 9.64 TGFB2 TGFBR2
42 negative regulation of osteoblast proliferation GO:0033689 9.63 GREM1 SMAD3
43 positive regulation of SMAD protein import into nucleus GO:0060391 9.63 SMAD3 TGFB3 TGFBR1
44 negative regulation of macrophage cytokine production GO:0010936 9.62 TGFB2 TGFB3
45 collagen fibril organization GO:0030199 9.62 COL3A1 GREM1 TGFB2 TGFBR1
46 regulation of transforming growth factor beta2 production GO:0032909 9.61 SMAD3 TGFB2
47 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 TGFB2 TGFBR1 TGFBR2
48 positive regulation of occluding junction disassembly GO:1905075 9.58 TGFB3 TGFBR1
49 endocardial cushion fusion GO:0003274 9.58 TGFB2 TGFBR2
50 positive regulation of epithelial to mesenchymal transition GO:0010718 9.55 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 GREM1 TGFB2 TGFB3
2 transforming growth factor beta receptor binding GO:0005160 9.5 SMAD3 TGFB2 TGFB3
3 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.48 TGFBR1 TGFBR2
4 co-SMAD binding GO:0070410 9.46 SMAD3 TGIF1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 TGFBR1 TGFBR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.4 TGFB3 TGFBR2
7 transforming growth factor beta-activated receptor activity GO:0005024 9.37 TGFBR1 TGFBR2
8 transforming growth factor beta binding GO:0050431 9.33 TGFB3 TGFBR1 TGFBR2
9 type III transforming growth factor beta receptor binding GO:0034714 9.26 TGFB2 TGFB3
10 SMAD binding GO:0046332 9.26 COL3A1 SMAD3 TGFBR1 TGFBR2
11 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFB2 TGFB3 TGFBR1

Sources for Loeys-Dietz Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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65 SNOMED-CT via HPO
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