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 24 53 25 37 29 6 44 15 73
Loeys-Dietz Aortic Aneurysm Syndrome 24 53 25 73
Furlong Syndrome 53 73
Aortic Aneurysm Syndrome, Loeys-Dietz Type 53
Syndrome, Loeys-Dietz 40
Lds 25

Characteristics:

GeneReviews:

24
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 : 53 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.

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 4. An important gene associated with Loeys-Dietz Syndrome is TGFBR1 (Transforming Growth Factor Beta Receptor 1), 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 tall stature and bifid uvula

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 : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 1 35.2 TGFBR1 TGFBR2
2 loeys-dietz syndrome 4 35.1 TGFB2 TGFB3
3 loeys-dietz syndrome 2 35.0 TGFBR2 TMPO
4 multiple self-healing squamous epithelioma 30.5 TGFBR1 TGFBR2
5 aortic disease 29.3 ACTA2 FBN1 TGFB2 TGFBR1 TGFBR2
6 marfan syndrome 28.3 ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFBR1
7 aneurysm 27.1 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
8 aortic aneurysm, familial thoracic 1 26.9 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
9 aortic aneurysm 26.5 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
10 loeys-dietz syndrome 3 12.8
11 loeys-dietz syndrome 5 12.6
12 lipoprotein types--ld system 11.9
13 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
14 shprintzen-goldberg craniosynostosis syndrome 11.3
15 transient hypogammaglobulinemia of infancy 10.8 TGFBR1 TGFBR2
16 transient hypogammaglobulinemia 10.7 TGFBR1 TGFBR2
17 multilocular clear cell renal cell carcinoma 10.6 TGFB2 TGFB3
18 eisenmenger syndrome 10.6 TGFBR1 TGFBR2
19 tricuspid valve prolapse 10.5 FBN1 SMAD3
20 cerebritis 10.5
21 ehlers-danlos syndrome, hypermobility type 10.5 COL3A1 FBN1
22 stiff skin syndrome 10.5 FBN1 TGFB2
23 aortic aneurysm, familial thoracic 4 10.5 FBN1 MYH11
24 subclavian artery aneurysm 10.5 MYH11 TGFBR2
25 marden-walker syndrome 10.4 FBN1 FBN2
26 tracheal stenosis 10.4 FBN1 TGFB3
27 peyronie's disease 10.4 SMAD3 TGFB2 TGFB3
28 type i 10.4
29 tuberculoid leprosy 10.4 TGFB2 TGFB3
30 mitral valve disease 10.4 FBN1 TGFB2 TGFB3
31 intracranial aneurysm 10.3
32 cerebral aneurysms 10.3
33 larsen-like syndrome 10.3 COL3A1 COL5A2
34 orofacial cleft 10.3 TGFB3 TGFBR1 TGFBR2
35 dental pulp calcification 10.3 FBN1 FBN2 TGFBR2
36 ehlers-danlos syndrome 10.3
37 cervicitis 10.3
38 aortic aneurysm, familial thoracic 2 10.2 ACTA2 FBN1
39 arterial tortuosity syndrome 10.2 COL5A2 TGFBR1
40 familial thoracic aortic aneurysm and dissection 10.2 FBN1 SMAD3 TGFBR1 TGFBR2
41 apnea, obstructive sleep 10.1
42 osteoporosis 10.1
43 spondylolisthesis 10.1
44 atrophoderma vermiculata 10.1
45 adrenoleukodystrophy 10.1
46 myocardial infarction 10.1
47 arteriovenous fistula 10.1
48 dilated cardiomyopathy 10.1
49 hemophagocytic lymphohistiocytosis 10.1
50 distal arthrogryposis 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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 tall stature 32 frequent (33%) HP:0000098
2 bifid uvula 32 frequent (33%) HP:0000193
3 oral cleft 32 frequent (33%) HP:0000202
4 high palate 32 hallmark (90%) HP:0000218
5 malar flattening 32 frequent (33%) HP:0000272
6 hypertelorism 32 frequent (33%) HP:0000316
7 micrognathia 32 frequent (33%) HP:0000347
8 blue sclerae 32 frequent (33%) HP:0000592
9 pectus excavatum 32 occasional (7.5%) HP:0000767
10 pectus carinatum 32 occasional (7.5%) HP:0000768
11 thin skin 32 occasional (7.5%) HP:0000963
12 bruising susceptibility 32 occasional (7.5%) HP:0000978
13 atypical scarring of skin 32 frequent (33%) HP:0000987
14 striae distensae 32 frequent (33%) HP:0001065
15 arachnodactyly 32 frequent (33%) HP:0001166
16 craniosynostosis 32 frequent (33%) HP:0001363
17 joint dislocation 32 occasional (7.5%) HP:0001373
18 patent ductus arteriosus 32 hallmark (90%) HP:0001643
19 cardiac arrest 32 occasional (7.5%) HP:0001695
20 pes planus 32 hallmark (90%) HP:0001763
21 aortic dissection 32 hallmark (90%) HP:0002647
22 scoliosis 32 frequent (33%) HP:0002650
23 aortic aneurysm 32 hallmark (90%) HP:0004942
24 arterial tortuosity 32 hallmark (90%) HP:0005116
25 arterial dissection 32 hallmark (90%) HP:0005294
26 joint hyperflexibility 32 occasional (7.5%) HP:0005692
27 camptodactyly of finger 32 frequent (33%) HP:0100490
28 uterine rupture 32 hallmark (90%) HP:0100718

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

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.94 COL5A2 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.94 TGFB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.94 TGFBR2 TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.94 COL5A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.94 TGFB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.94 COL5A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.94 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.94 TMPO
9 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.94 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.94 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.94 TMPO
12 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.94 COL5A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.94 TMPO
14 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.94 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.94 TGFB2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.94 TGFB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.94 TMPO
18 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.94 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.94 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.94 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.94 TMPO
22 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.94 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.94 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.94 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.94 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.94 COL5A2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.94 TMPO
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.94 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.94 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.94 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.94 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.94 TGFB2 COL5A2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.94 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.94 TGFB2 TMPO TGFBR2 COL5A2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.94 TGFBR2
36 Decreased viability GR00107-A-1 9.83 TGFBR2
37 Decreased viability GR00221-A-1 9.83 MYLK TGFBR2 TGFBR1 COL3A1
38 Decreased viability GR00221-A-2 9.83 COL3A1
39 Decreased viability GR00221-A-3 9.83 TGFBR2
40 Decreased viability GR00221-A-4 9.83 MYLK TGFBR2 TGFBR1 COL3A1
41 Decreased viability GR00402-S-2 9.83 MYLK TGFBR2 TGFBR1 COL3A1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 SMAD3
2 cellular MP:0005384 10.26 SMAD3 TGFBR1 TGFB2 TGFBR2 TGFB3 TMPO
3 growth/size/body region MP:0005378 10.26 SMAD3 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3
4 digestive/alimentary MP:0005381 10.16 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 TMPO
5 homeostasis/metabolism MP:0005376 10.16 TGFB3 SMAD3 TGFBR1 MYH11 TGFB2 MYLK
6 mortality/aging MP:0010768 10.15 SMAD3 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3
7 embryo MP:0005380 10.04 TGFB3 SMAD3 TGFBR1 TGFB2 TGFBR2 GREM1
8 integument MP:0010771 9.98 TMPO SMAD3 TGFBR1 MYH11 COL3A1 COL5A2
9 muscle MP:0005369 9.97 TGFBR1 TGFB2 TGFBR2 MYLK FBN1 MYH11
10 limbs/digits/tail MP:0005371 9.95 TMPO TGFB3 SMAD3 TGFB2 FBN2 GREM1
11 respiratory system MP:0005388 9.85 TGFBR1 TGFB2 TGFBR2 TGFB3 GREM1 COL5A2
12 renal/urinary system MP:0005367 9.73 SMAD3 MYH11 TGFB2 MYLK GREM1 FBN1
13 skeleton MP:0005390 9.65 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 SMAD3
14 vision/eye MP:0005391 9.17 TGFB3 SMAD3 TGFB2 TGFBR2 FBN2 COL5A2

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 Not Applicable
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 29

Anatomical Context for Loeys-Dietz Syndrome

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

41
Bone, Heart, Eye, Brain, Skin, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 195)
# Title Authors Year
1
Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome. ( 29756196 )
2018
2
Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome. ( 29687491 )
2018
3
Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome. ( 29942909 )
2018
4
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. ( 29706644 )
2018
5
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome. ( 29889773 )
2018
6
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )
2018
7
Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. ( 29320330 )
2018
8
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. ( 29339704 )
2018
9
Loeys-Dietz syndrome: We have come a (Fur)long way. ( 29891244 )
2018
10
Clip ligation for ruptured intracranial aneurysm in a child with Loeys-Dietz syndrome: case report. ( 29350591 )
2018
11
Obstetric Management of Loeys-Dietz Syndrome. ( 29742657 )
2018
12
Pseudoaneurysm formation after valve sparing root replacement in children with Loeys-Dietz syndrome. ( 29726037 )
2018
13
Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome. ( 29901510 )
2018
14
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
15
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
16
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )
2017
17
Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome. ( 28606209 )
2017
18
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
19
Perioperative Anesthetic Management for Cesarean Delivery in a Parturient With Type IV Loeys-Dietz Syndrome: A Case Report. ( 28604473 )
2017
20
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
21
Teaching Neuro<i>Images</i>: Rare cause of Horner syndrome in Loeys-Dietz syndrome. ( 28972113 )
2017
22
Ocular findings in Loeys-Dietz syndrome. ( 29146755 )
2017
23
4.7a88Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. ( 28544325 )
2017
24
Loeys-Dietz syndrome with aortic wall necrosis secondary to external wrapping. ( 29293973 )
2017
25
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )
2017
26
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-I^ signaling. ( 28679693 )
2017
27
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
28
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
29
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
30
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
31
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
32
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017
33
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
34
Stepwise Total Aortic Repairs With Fenestrated Endografts in a Patient With Loeys-Dietz Syndrome. ( 28633258 )
2017
35
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )
2017
36
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 29022822 )
2017
37
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )
2017
38
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )
2017
39
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. ( 28541520 )
2017
40
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )
2016
41
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
42
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. ( 27181042 )
2016
43
Massive hemoptysis in Loeys-Dietz syndrome. ( 26614122 )
2016
44
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. ( 27125181 )
2016
45
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. ( 27173863 )
2016
46
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )
2016
47
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. ( 26897209 )
2016
48
Genetic testing of 10 patients with features of loeys-dietz syndrome. ( 26877057 )
2016
49
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. ( 27521346 )
2016
50
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. ( 26848186 )
2016

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6
(show top 50) (show all 884)
# 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.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
3 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
4 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh38 Chromosome 3, 30688470: 30688470
5 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
6 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh38 Chromosome 9, 99138006: 99138006
7 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
8 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
9 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
10 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh38 Chromosome 9, 99149252: 99149252
11 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh37 Chromosome 15, 48780430: 48780430
12 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh38 Chromosome 15, 48488233: 48488233
13 TGFBR2 NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser) single nucleotide variant Likely pathogenic rs193922660 GRCh37 Chromosome 3, 30713826: 30713826
14 TGFBR2 NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser) single nucleotide variant Likely pathogenic rs193922660 GRCh38 Chromosome 3, 30672334: 30672334
15 TGFBR2 NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg) single nucleotide variant Likely pathogenic rs193922664 GRCh37 Chromosome 3, 30732927: 30732927
16 TGFBR2 NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg) single nucleotide variant Likely pathogenic rs193922664 GRCh38 Chromosome 3, 30691435: 30691435
17 TGFBR2 NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser) single nucleotide variant Likely pathogenic rs193922665 GRCh37 Chromosome 3, 30691808: 30691808
18 TGFBR2 NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser) single nucleotide variant Likely pathogenic rs193922665 GRCh38 Chromosome 3, 30650316: 30650316
19 TGFBR2 NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter) single nucleotide variant Likely pathogenic rs397516840 GRCh37 Chromosome 3, 30729974: 30729974
20 TGFBR2 NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter) single nucleotide variant Likely pathogenic rs397516840 GRCh38 Chromosome 3, 30688482: 30688482
21 COL3A1 NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg) single nucleotide variant Likely pathogenic rs587779715 GRCh37 Chromosome 2, 189872815: 189872815
22 COL3A1 NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg) single nucleotide variant Likely pathogenic rs587779715 GRCh38 Chromosome 2, 189008089: 189008089
23 SMAD3 NM_005902.3(SMAD3): c.364G> A (p.Val122Met) single nucleotide variant Uncertain significance rs587782977 GRCh38 Chromosome 15, 67165052: 67165052
24 SMAD3 NM_005902.3(SMAD3): c.364G> A (p.Val122Met) single nucleotide variant Uncertain significance rs587782977 GRCh37 Chromosome 15, 67457390: 67457390
25 TGFB2 NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs10482810 GRCh37 Chromosome 1, 218607532: 218607532
26 TGFB2 NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs10482810 GRCh38 Chromosome 1, 218434190: 218434190
27 TGFBR2 NM_003242.5(TGFBR2): c.1382G> A (p.Cys461Tyr) single nucleotide variant Likely pathogenic rs587782979 GRCh37 Chromosome 3, 30715724: 30715724
28 TGFBR2 NM_003242.5(TGFBR2): c.1382G> A (p.Cys461Tyr) single nucleotide variant Likely pathogenic rs587782979 GRCh38 Chromosome 3, 30674232: 30674232
29 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh37 Chromosome 2, 189875018: 189875018
30 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh38 Chromosome 2, 189010292: 189010292
31 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
32 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552
33 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh37 Chromosome 16, 15872688: 15872688
34 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh38 Chromosome 16, 15778831: 15778831
35 TGFBR2 NM_001024847.2(TGFBR2): c.1621_1632delACGTTGACTGAG (p.Thr541_Glu544del) deletion Likely pathogenic rs876658120 GRCh38 Chromosome 3, 30691441: 30691452
36 TGFBR2 NM_001024847.2(TGFBR2): c.1621_1632delACGTTGACTGAG (p.Thr541_Glu544del) deletion Likely pathogenic rs876658120 GRCh37 Chromosome 3, 30732933: 30732944
37 TGFBR2 NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727503476 GRCh37 Chromosome 3, 30732967: 30732967
38 TGFBR2 NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727503476 GRCh38 Chromosome 3, 30691475: 30691475
39 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh37 Chromosome 3, 30713742: 30713742
40 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh38 Chromosome 3, 30672250: 30672250
41 TGFBR2 NM_003242.5(TGFBR2): c.1524+1G> A single nucleotide variant Likely pathogenic rs727503475 GRCh37 Chromosome 3, 30730004: 30730004
42 TGFBR2 NM_003242.5(TGFBR2): c.1524+1G> A single nucleotide variant Likely pathogenic rs727503475 GRCh38 Chromosome 3, 30688512: 30688512
43 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh37 Chromosome 9, 101867557: 101867565
44 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh38 Chromosome 9, 99105275: 99105283
45 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh37 Chromosome 9, 101894862: 101894862
46 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh38 Chromosome 9, 99132580: 99132580
47 TGFB2 NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter) single nucleotide variant Likely pathogenic rs730880221 GRCh37 Chromosome 1, 218607457: 218607457
48 TGFB2 NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter) single nucleotide variant Likely pathogenic rs730880221 GRCh38 Chromosome 1, 218434115: 218434115
49 TGFBR2 NM_003242.5(TGFBR2): c.1277C> T (p.Ala426Val) single nucleotide variant Likely pathogenic rs730880224 GRCh38 Chromosome 3, 30674127: 30674127
50 COL5A2 NM_000393.4(COL5A2): c.2795T> C (p.Leu932Pro) single nucleotide variant Uncertain significance rs730880067 GRCh37 Chromosome 2, 189916182: 189916182

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:

37
# 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 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
2
Show member pathways
13.25 ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFB3
3
Show member pathways
13.14 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
4
Show member pathways
12.97 ACTA2 COL3A1 SMAD3 TGFBR1 TGFBR2
5
Show member pathways
12.97 ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFB2
6
Show member pathways
12.95 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
12.91 ACTA2 MYH11 TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.86 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
9
Show member pathways
12.83 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10 12.8 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.74 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12
Show member pathways
12.73 COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
13
Show member pathways
12.53 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14
Show member pathways
12.52 SMAD3 TGFB2 TGFB3 TGFBR1
15
Show member pathways
12.47 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
16
Show member pathways
12.44 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
17 12.42 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
18
Show member pathways
12.24 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19 12.22 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
20
Show member pathways
12.21 SMAD3 TGFB2 TGFBR1 TGFBR2
21 12.16 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22 12.14 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
23 12.11 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
24 12.09 ACTA2 MYLK SMAD3 TGFBR1
25
Show member pathways
12.07 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
26
Show member pathways
12.05 SMAD3 TGFBR1 TGFBR2
27
Show member pathways
12.03 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
28 12.01 SMAD3 TGFBR1 TGFBR2
29 11.99 TGFB2 TGFBR1 TGFBR2
30 11.88 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31 11.86 GREM1 TGFB2 TGFB3 TGFBR1
32 11.85 COL3A1 TGFB2 TGFB3
33
Show member pathways
11.84 SMAD3 TGFBR1 TGFBR2
34 11.84 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
35
Show member pathways
11.78 GREM1 SMAD3 TGFBR1 TGFBR2
36
Show member pathways
11.74 FBN1 FBN2 TGFB2 TGFB3
37 11.72 SMAD3 TGFBR1 TGFBR2
38 11.72 SMAD3 TGFBR1 TGFBR2
39
Show member pathways
11.7 SMAD3 TGFBR1 TGFBR2
40 11.69 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
41 11.63 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
42 11.61 SMAD3 TGFBR1 TGFBR2
43 11.54 TGFB2 TGFBR1 TGFBR2
44 11.52 SMAD3 TGFB3 TGFBR1 TGFBR2
45
Show member pathways
11.4 SMAD3 TGFB2 TGFBR1 TGFBR2
46 11.39 ACTA2 MYH11 MYLK
47
Show member pathways
11.25 TGFB3 TGFBR1 TGFBR2
48 11.22 TGFB3 TGFBR1 TGFBR2
49 11.11 SMAD3 TGFBR1 TGFBR2
50 10.83 SMAD3 TGFB2 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 9.8 ACTA2 COL3A1 COL5A2 FBN1 GREM1 TGFB2
2 microfibril GO:0001527 9.16 FBN1 FBN2
3 extracellular matrix GO:0031012 9.1 COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
4 transforming growth factor beta receptor complex GO:0070022 8.96 TGFBR1 TGFBR2

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.95 COL3A1 COL5A2 FBN1 FBN2
2 in utero embryonic development GO:0001701 9.94 SMAD3 TGFB3 TGFBR1 TGFBR2
3 response to hypoxia GO:0001666 9.9 SMAD3 TGFB2 TGFB3 TGFBR2
4 cell cycle arrest GO:0007050 9.89 SMAD3 TGFB2 TGFBR1
5 heart development GO:0007507 9.89 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
6 negative regulation of cell growth GO:0030308 9.88 GREM1 SMAD3 TGFB2
7 muscle contraction GO:0006936 9.87 ACTA2 MYH11 MYLK
8 kidney development GO:0001822 9.87 FBN1 TGFB2 TGFBR1
9 SMAD protein signal transduction GO:0060395 9.83 SMAD3 TGFB2 TGFB3
10 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 FBN1 SMAD3 TGFBR1
11 embryonic limb morphogenesis GO:0030326 9.81 FBN2 GREM1 TGFB2
12 positive regulation of stress fiber assembly GO:0051496 9.8 SMAD3 TGFB3 TGFBR1
13 skeletal system development GO:0001501 9.8 COL3A1 COL5A2 FBN1 SMAD3 TGFB2 TGFBR1
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 TGFB2 TGFB3 TGFBR1
15 roof of mouth development GO:0060021 9.78 TGFB2 TGFB3 TGFBR1 TGFBR2
16 digestive tract development GO:0048565 9.77 COL3A1 TGFB3 TGFBR2
17 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.76 SMAD3 TGFB3 TGFBR1 TGFBR2
18 positive regulation of bone mineralization GO:0030501 9.74 FBN2 SMAD3 TGFB3
19 ventricular septum morphogenesis GO:0060412 9.73 TGFB2 TGFBR1 TGFBR2
20 outflow tract septum morphogenesis GO:0003148 9.72 TGFB2 TGFBR2
21 embryonic cranial skeleton morphogenesis GO:0048701 9.72 SMAD3 TGFBR1 TGFBR2
22 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.71 SMAD3 TGFB2
23 cell growth GO:0016049 9.71 TGFB2 TGFB3
24 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.71 TGFBR1 TGFBR2
25 smooth muscle contraction GO:0006939 9.71 MYH11 MYLK
26 negative regulation of chondrocyte differentiation GO:0032331 9.7 GREM1 TGFBR1
27 ventricular trabecula myocardium morphogenesis GO:0003222 9.7 TGFB2 TGFBR1
28 activin receptor signaling pathway GO:0032924 9.7 SMAD3 TGFBR1
29 cardiac epithelial to mesenchymal transition GO:0060317 9.69 TGFB2 TGFBR1
30 cell-cell junction organization GO:0045216 9.69 SMAD3 TGFB2 TGFB3
31 regulation of epithelial to mesenchymal transition GO:0010717 9.68 GREM1 TGFBR1
32 positive regulation of SMAD protein signal transduction GO:0060391 9.68 TGFB3 TGFBR1
33 atrioventricular valve morphogenesis GO:0003181 9.68 TGFB2 TGFBR2
34 membranous septum morphogenesis GO:0003149 9.68 TGFB2 TGFBR2
35 response to cholesterol GO:0070723 9.67 TGFBR1 TGFBR2
36 embryonic eye morphogenesis GO:0048048 9.67 FBN1 FBN2
37 salivary gland morphogenesis GO:0007435 9.67 TGFB2 TGFB3
38 negative regulation of osteoblast proliferation GO:0033689 9.66 GREM1 SMAD3
39 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
40 negative regulation of macrophage cytokine production GO:0010936 9.63 TGFB2 TGFB3
41 aorta smooth muscle tissue morphogenesis GO:0060414 9.63 COL3A1 MYLK
42 regulation of transforming growth factor beta2 production GO:0032909 9.61 SMAD3 TGFB2
43 regulation of cellular response to growth factor stimulus GO:0090287 9.61 FBN1 FBN2
44 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 TGFB2 TGFBR1 TGFBR2
45 endocardial cushion fusion GO:0003274 9.58 TGFB2 TGFBR2
46 sequestering of TGFbeta in extracellular matrix GO:0035583 9.58 FBN1 FBN2
47 secondary palate development GO:0062009 9.58 TGFB2 TGFB3 TGFBR2
48 collagen fibril organization GO:0030199 9.55 COL3A1 COL5A2 GREM1 TGFB2 TGFBR1
49 uterine wall breakdown GO:0042704 9.54 TGFB2 TGFB3
50 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.54 TGFB2 TGFBR1 TGFBR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.54 SMAD3 TGFB2 TGFB3
2 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.51 TGFBR1 TGFBR2
3 BMP receptor binding GO:0070700 9.49 TGFB2 TGFB3
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.48 TGFBR1 TGFBR2
5 type I transforming growth factor beta receptor binding GO:0034713 9.46 TGFB3 TGFBR2
6 extracellular matrix structural constituent GO:0005201 9.46 COL3A1 COL5A2 FBN1 FBN2
7 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR1 TGFBR2
8 transforming growth factor beta binding GO:0050431 9.43 TGFB3 TGFBR1 TGFBR2
9 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN1 FBN2
10 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB2 TGFB3
11 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFB2 TGFB3 TGFBR1
12 SMAD binding GO:0046332 9.02 COL3A1 COL5A2 SMAD3 TGFBR1 TGFBR2

Sources for Loeys-Dietz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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50 NCIt
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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