LDS
MCID: LYS001
MIFTS: 65

Loeys-Dietz Syndrome (LDS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Loeys-Dietz Syndrome

MalaCards integrated aliases for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 11 24 19 42 58 28 5 43 14 38 71 75
Loeys-Dietz Aortic Aneurysm Syndrome 24 42 71
Aortic Aneurysm Syndrome Due to Tgf-Beta Receptors Anomalies 58
Furlong Syndrome 71
Lds 42

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Infancy,Neonatal 58

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:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Loeys-Dietz Syndrome

MedlinePlus Genetics: 42 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.There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime from childhood through adulthood, and the severity is variable.Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome can also have aneurysms or dissections in arteries throughout the body and have arteries with abnormal twists and turns (arterial tortuosity).Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), an inward- and upward-turning foot (clubfoot), flat feet (pes planus), or elongated limbs with joint deformities called contractures that restrict the movement of certain joints. A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia). In individuals with Loeys-Dietz syndrome, dural ectasia typically does not cause health problems. Malformation or instability of the spinal bones (vertebrae) in the neck is a common feature of Loeys-Dietz syndrome and can lead to injuries to the spinal cord. Some affected individuals have joint inflammation (osteoarthritis) that commonly affects the knees and the joints of the hands, wrists, and spine.People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after wound healing. The skin is frequently described as translucent, often with stretch marks (striae) and visible underlying veins. Some individuals with Loeys-Dietz syndrome develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax) or a protrusion of organs through gaps in muscles (hernias). Other characteristic features include widely spaced eyes (hypertelorism), eyes that do not point in the same direction (strabismus), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and an opening in the roof of the mouth (cleft palate).Individuals with Loeys-Dietz syndrome frequently develop immune system-related problems such as food allergies, asthma, or inflammatory disorders such as eczema or inflammatory bowel disease.

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 2. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. The drugs Heparin, bovine and Calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skin, and related phenotypes are high palate and pes planus

GARD: 19 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 genetic changes in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes.

Disease Ontology: 11 A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.

Orphanet: 58 Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Wikipedia: 75 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 in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5 Loeys-Dietz Syndrome 6

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 1 33.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
2 loeys-dietz syndrome 2 33.5 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
3 loeys-dietz syndrome 5 33.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4 loeys-dietz syndrome 4 33.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
5 loeys-dietz syndrome 3 33.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6 aortic aneurysm, familial thoracic 4 32.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7 connective tissue disease 31.9 TGFBR2 SMAD3 SMAD2 FBN2 FBN1 ELN
8 marfan syndrome 31.8 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1 ELN
9 aortic aneurysm, familial thoracic 1 31.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10 cleft palate, isolated 31.8 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
11 scoliosis 31.5 TGFBR2 TGFB2 FBN2 FBN1 ELN
12 hypermobile ehlers-danlos syndrome 31.5 FBN1 COL5A1 COL3A1
13 aortic dissection 31.5 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 MYH11
14 craniosynostosis 31.4 TGFBR2 TGFBR1 TGFB3 SMAD3 FBN1
15 aortic aneurysm 31.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 contractural arachnodactyly, congenital 31.3 TGFBR2 TGFBR1 SLC2A10 FBN2 FBN1 ELN
17 arterial tortuosity syndrome 31.3 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
18 ehlers-danlos syndrome, vascular type 31.2 MYLK MYH11 FBN1 ELN EFEMP2 COL3A1
19 aortic valve insufficiency 31.2 TGFBR2 TGFBR1 MYH11 FBN2 FBN1 ELN
20 aortic disease 31.1 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
21 aortic aneurysm, familial abdominal, 1 31.1 TGFBR2 MYH11 FBN1 ELN EFEMP2 COL3A1
22 multiple self-healing squamous epithelioma 31.0 TGFBR2 TGFBR1
23 pneumothorax 31.0 FBN1 ELN COL5A1
24 inguinal hernia 30.9 TGFBR2 TGFBR1 SLC2A10 FBN1 ELN EFEMP2
25 ehlers-danlos syndrome 30.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
26 myopia 30.8 TGIF1 TGFB3 TGFB2 MYH11 FBN1
27 osteochondrodysplasia 30.7 TGFB3 FBN2 FBN1 ELN COL5A1 COL3A1
28 subclavian artery aneurysm 30.7 TGFBR2 TGFBR1 FBN1 ELN
29 patent ductus arteriosus 1 30.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
30 mitral valve insufficiency 30.7 MYH11 FBN1 ELN
31 weill-marchesani syndrome 30.7 FBN2 FBN1 ELN
32 diaphragmatic hernia, congenital 30.6 SLC2A10 FBN1 ELN EFEMP2
33 stickler syndrome 30.6 FBN2 FBN1 ELN COL5A1 COL3A1
34 mitral valve disease 30.5 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN2 FBN1
35 orthostatic intolerance 30.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
36 dilated cardiomyopathy 30.4 TGFB3 SMAD3 SMAD2 MYLK MYH11 FBN1
37 heart disease 30.2 TGIF1 TGFB3 TGFB2 SMAD4 FBN1 ELN
38 aortic valve disease 1 30.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
39 loeys-dietz syndrome 6 11.9
40 shprintzen-goldberg craniosynostosis syndrome 11.5
41 meester-loeys syndrome 11.3
42 hypertelorism 10.9
43 uvula, bifid 10.9
44 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.9
45 vascular disease 10.8
46 pectus excavatum 10.6
47 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.6
48 talipes equinovarus 10.6
49 aortic valve disease 2 10.5
50 isolated ectopia lentis 10.5

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:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
2 pes planus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001763
3 aortic dissection 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002647
4 arterial dissection 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005294
5 patent ductus arteriosus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001643
6 uterine rupture 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100718
7 aortic aneurysm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004942
8 arterial tortuosity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005116
9 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
10 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
11 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
12 atypical scarring of skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000987
13 striae distensae 58 30 Frequent (33%) Frequent (79-30%)
HP:0001065
14 arachnodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001166
15 malar flattening 58 30 Frequent (33%) Frequent (79-30%)
HP:0000272
16 craniosynostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001363
17 tall stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0000098
18 blue sclerae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000592
19 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0100490
20 bifid uvula 58 30 Frequent (33%) Frequent (79-30%)
HP:0000193
21 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000768
22 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
23 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005692
24 joint dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001373
25 bruising susceptibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000978
26 thin skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000963
27 cardiac arrest 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001695
28 abnormal bleeding 58 Occasional (29-5%)
29 dilatation 58 Very frequent (99-80%)
30 oral cleft 58 Frequent (79-30%)

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-100 10.34 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.34 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.34 SMAD2 SMAD4 TGFB2 TGFBR1 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.34 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.34 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.34 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.34 TGFB2 TGIF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.34 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.34 TGIF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.34 TGFBR1 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.34 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.34 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.34 TGFBR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.34 SMAD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.34 SMAD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.34 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.34 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.34 SMAD4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.34 TGFB2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.34 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.34 SMAD2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.34 SMAD2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.34 SMAD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.34 TGFB2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.34 TGFBR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.34 SMAD2 SMAD4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.34 TGFBR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.34 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.34 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.34 SMAD4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.34 TGFBR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.34 TGFB2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.34 TGFB2 TGFBR1 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.34 TGFBR2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.34 TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.34 TGFB2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.34 TGFBR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.34 TGFBR1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.34 TGFBR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.34 TGIF1
41 no effect GR00402-S-1 10.14 ACTA2 COL3A1 COL5A1 EFEMP2 ELN FBN1
42 no effect GR00402-S-2 10.14 ACTA2 COL3A1 COL5A1 GREM1 IPO8 MYH11

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 COL3A1 COL5A1 EFEMP2 FBN1 FBN2 GREM1
2 homeostasis/metabolism MP:0005376 10.41 COL3A1 ELN FBN1 FBN2 GREM1 MYH11
3 cardiovascular system MP:0005385 10.39 ACTA2 COL3A1 COL5A1 EFEMP2 ELN FBN1
4 muscle MP:0005369 10.34 ACTA2 COL3A1 EFEMP2 ELN FBN1 FBN2
5 nervous system MP:0003631 10.32 FBN1 FBN2 GREM1 SMAD2 SMAD3 SMAD4
6 cellular MP:0005384 10.3 COL3A1 EFEMP2 FBN1 FBN2 GREM1 MYH11
7 renal/urinary system MP:0005367 10.27 FBN1 FBN2 GREM1 MYH11 MYLK SLC2A10
8 embryo MP:0005380 10.25 COL5A1 FBN1 GREM1 SMAD2 SMAD3 SMAD4
9 normal MP:0002873 10.24 COL5A1 EFEMP2 MYLK SMAD2 SMAD4 TGFB3
10 respiratory system MP:0005388 10.21 COL3A1 EFEMP2 ELN FBN1 FBN2 GREM1
11 limbs/digits/tail MP:0005371 10.2 EFEMP2 FBN1 FBN2 GREM1 SMAD3 SMAD4
12 digestive/alimentary MP:0005381 10.19 COL3A1 MYH11 MYLK SMAD2 SMAD3 SMAD4
13 craniofacial MP:0005382 10.18 FBN1 FBN2 SMAD2 SMAD3 SMAD4 TGFB2
14 immune system MP:0005387 10.18 COL3A1 FBN1 MYLK SLC2A10 SMAD2 SMAD3
15 skeleton MP:0005390 10.17 EFEMP2 ELN FBN1 FBN2 GREM1 MYLK
16 vision/eye MP:0005391 9.96 ACTA2 COL5A1 EFEMP2 FBN2 SMAD2 SMAD3
17 hematopoietic system MP:0005397 9.93 COL3A1 FBN1 FBN2 IPO8 SLC2A10 SMAD2
18 mortality/aging MP:0010768 9.89 COL3A1 COL5A1 EFEMP2 ELN FBN1 FBN2
19 integument MP:0010771 9.36 COL3A1 COL5A1 EFEMP2 FBN1 FBN2 MYH11

Drugs & Therapeutics for Loeys-Dietz Syndrome

Drugs for Loeys-Dietz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
2 Calcium heparin
3 Liver Extracts

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 Immunopathology of Loeys-Dietz Syndrome Recruiting NCT05472519
4 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
5 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
6 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
7 An Investigation Into the Epidemiology and Surgical Intervention for Proximal Aortic Disease in Scotland Not yet recruiting NCT05389865

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

Organs/tissues related to Loeys-Dietz Syndrome:

MalaCards : Spinal Cord, Bone, Skin, Heart, Lung, Brain, Liver

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 629)
# Title Authors PMID Year
1
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 62 24 5
18852674 2009
2
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. 62 24 5
17470566 2007
3
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 62 24 5
16928994 2006
4
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 24 5
27879313 2016
5
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 24 5
21358634 2011
6
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 24 5
15731757 2005
7
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients. 62 5
31915033 2020
8
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 62 5
29510914 2018
9
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums. 62 5
29768367 2018
10
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 62 5
29392890 2018
11
Genetic testing of 10 patients with features of Loeys-Dietz syndrome. 62 5
26877057 2016
12
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. 62 5
26848186 2016
13
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. 62 5
24146167 2014
14
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. 62 5
24220024 2013
15
TGFβ receptor mutations impose a strong predisposition for human allergic disease. 62 5
23884466 2013
16
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. 62 5
22095581 2012
17
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 62 5
22113417 2012
18
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 62 5
21267002 2011
19
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 62 5
21098638 2010
20
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 62 5
19542084 2009
21
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 62 5
18781618 2008
22
Aortic dissection in a young man with Loeys-Dietz syndrome. 62 5
18455604 2008
23
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. 62 5
17935258 2008
24
Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. 62 5
17652900 2007
25
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. 62 5
17330129 2007
26
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 62 5
18084123 2007
27
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. 62 5
17061023 2007
28
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 62 5
16791849 2006
29
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 62 5
16799921 2006
30
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 62 5
16835936 2006
31
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. 62 5
16283890 2005
32
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. 62 24
29270370 2017
33
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. 62 24
28544325 2017
34
Loeys-Dietz syndrome and pregnancy: The first ten years. 62 24
27780078 2017
35
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. 5
28182693 2017
36
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 5
25644172 2015
37
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 62 24
25434006 2014
38
Loeys-Dietz syndrome: a primer for diagnosis and management. 62 24
24577266 2014
39
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. 62 24
24333532 2014
40
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 62 24
24355923 2014
41
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 5
24711937 2014
42
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 62 24
23554019 2013
43
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 5
22772377 2013
44
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 62 24
23023332 2012
45
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 62 24
22772368 2012
46
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. 62 24
21567932 2011
47
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 62 24
21217753 2011
48
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. 62 24
20813212 2010
49
The Loeys-Dietz syndrome: an update for the clinician. 62 24
20838339 2010
50
Musculoskeletal findings of Loeys-Dietz syndrome. 62 24
20686062 2010

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

5 (show top 50) (show all 365)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) SNV Pathogenic
12524 rs111854391 GRCh37: 9:101900288-101900288
GRCh38: 9:99138006-99138006
2 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) SNV Pathogenic
12511 rs104893815 GRCh37: 3:30732970-30732970
GRCh38: 3:30691478-30691478
3 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) SNV Pathogenic
177704 rs727504292 GRCh37: 3:30713742-30713742
GRCh38: 3:30672250-30672250
4 TGFBR1 NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) SNV Pathogenic
492846 rs1554701911 GRCh37: 9:101907098-101907098
GRCh38: 9:99144816-99144816
5 TGFBR2 NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) SNV Pathogenic
1687722 GRCh37: 3:30715643-30715643
GRCh38: 3:30674151-30674151
6 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) SNV Pathogenic
12519 rs104893819 GRCh37: 3:30729962-30729962
GRCh38: 3:30688470-30688470
7 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic
12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
8 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) SNV Pathogenic
Pathogenic
12525 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
9 FBN1 NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) SNV Pathogenic
16457 rs137854478 GRCh37: 15:48780430-48780430
GRCh38: 15:48488233-48488233
10 TGFBR1 NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) MICROSAT Pathogenic
213896 rs863223829 GRCh37: 9:101900244-101900246
GRCh38: 9:99137962-99137964
11 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) SNV Pathogenic
12512 rs104893810 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
12 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) SNV Pathogenic
213934 rs863223852 GRCh37: 3:30729968-30729968
GRCh38: 3:30688476-30688476
13 TGFBR1 NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) SNV Pathogenic/Likely Pathogenic
213882 rs760079636 GRCh37: 9:101904946-101904946
GRCh38: 9:99142664-99142664
14 TGFB2 NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) SNV Likely Pathogenic
222832 rs869025531 GRCh37: 1:218578555-218578555
GRCh38: 1:218405213-218405213
15 TGFBR2 NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) SNV Likely Pathogenic
36860 rs193922660 GRCh37: 3:30713826-30713826
GRCh38: 3:30672334-30672334
16 TGFBR2 NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) SNV Likely Pathogenic
165398 rs727503476 GRCh37: 3:30732967-30732967
GRCh38: 3:30691475-30691475
17 TGFBR2 NM_003242.6(TGFBR2):c.383del (p.Lys128fs) DEL Likely Pathogenic
477546 rs79375991 GRCh37: 3:30691872-30691872
GRCh38: 3:30650380-30650380
18 TGFBR1 NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) SNV Likely Pathogenic
263773 rs886038919 GRCh37: 9:101900323-101900323
GRCh38: 9:99138041-99138041
19 TGFB2 NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) SNV Likely Pathogenic
180536 rs730880221 GRCh37: 1:218607457-218607457
GRCh38: 1:218434115-218434115
20 TGFBR2 NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) SNV Likely Pathogenic
222839 rs869025537 GRCh37: 3:30713727-30713727
GRCh38: 3:30672235-30672235
21 TGFBR2 NM_003242.6(TGFBR2):c.1524+1G>A SNV Likely Pathogenic
165395 rs727503475 GRCh37: 3:30730004-30730004
GRCh38: 3:30688512-30688512
22 TGFBR2 NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) SNV Likely Pathogenic
165399 rs727503477 GRCh37: 3:30732978-30732978
GRCh38: 3:30691486-30691486
23 TGFBR2 NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) SNV Likely Pathogenic
213943 rs863223857 GRCh37: 3:30713577-30713577
GRCh38: 3:30672085-30672085
24 COL3A1 NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) SNV Likely Pathogenic
101484 rs587779715 GRCh37: 2:189872815-189872815
GRCh38: 2:189008089-189008089
25 SMAD3 NM_005902.4(SMAD3):c.206+1G>C SNV Likely Pathogenic
667425 rs770098673 GRCh37: 15:67358699-67358699
GRCh38: 15:67066361-67066361
26 TGFBR2 NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) SNV Likely Pathogenic
12509 rs104893813 GRCh37: 3:30713738-30713738
GRCh38: 3:30672246-30672246
27 SMAD3 NM_005902.4(SMAD3):c.532+1G>C SNV Likely Pathogenic
1172860 GRCh37: 15:67457723-67457723
GRCh38: 15:67165385-67165385
28 TGFBR2 NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) SNV Likely Pathogenic
36866 rs193922664 GRCh37: 3:30732927-30732927
GRCh38: 3:30691435-30691435
29 TGFBR2 NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) SNV Likely Pathogenic
36868 rs193922665 GRCh37: 3:30691808-30691808
GRCh38: 3:30650316-30650316
30 TGFBR2 NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) SNV Likely Pathogenic
44657 rs397516840 GRCh37: 3:30729974-30729974
GRCh38: 3:30688482-30688482
31 SMAD3 NM_005902.4(SMAD3):c.364G>A (p.Val122Met) SNV Likely Pathogenic
155836 rs587782977 GRCh37: 15:67457390-67457390
GRCh38: 15:67165052-67165052
32 TGFBR2 NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) SNV Likely Pathogenic
155839 rs587782979 GRCh37: 3:30715724-30715724
GRCh38: 3:30674232-30674232
33 TGFBR2 NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) SNV Likely Pathogenic
165391 rs727503472 GRCh37: 3:30713534-30713534
GRCh38: 3:30672042-30672042
34 SMAD3 NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) SNV Likely Pathogenic
180525 rs730880215 GRCh37: 15:67473791-67473791
GRCh38: 15:67181453-67181453
35 TGFBR1 NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) SNV Likely Pathogenic
180539 rs730880223 GRCh37: 9:101911519-101911519
GRCh38: 9:99149237-99149237
36 TGFBR2 NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) SNV Likely Pathogenic
180540 rs730880224 GRCh37: 3:30715619-30715619
GRCh38: 3:30674127-30674127
37 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) SNV Likely Pathogenic
180541 rs727504421 GRCh37: 3:30732957-30732957
GRCh38: 3:30691465-30691465
38 TGFB2 NM_003238.6(TGFB2):c.370dup (p.Arg124fs) DUP Likely Pathogenic
222834 rs869025533 GRCh37: 1:218578533-218578534
GRCh38: 1:218405191-218405192
39 TGFBR2 NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) SNV Conflicting Interpretations Of Pathogenicity
36859 rs35719192 GRCh37: 3:30713794-30713794
GRCh38: 3:30672302-30672302
40 TGFBR2 NM_003242.6(TGFBR2):c.696C>T (p.Ala232_Asn233=) SNV Uncertain Significance
344659 rs768508812 GRCh37: 3:30713371-30713371
GRCh38: 3:30671879-30671879
41 TGFBR2 NM_003242.5(TGFBR2):c.-344C>A SNV Uncertain Significance
344647 rs886058298 GRCh37: 3:30648032-30648032
GRCh38: 3:30606540-30606540
42 MYLK NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) SNV Uncertain Significance
180444 rs730880164 GRCh37: 3:123382955-123382955
GRCh38: 3:123664108-123664108
43 TGFBR2 NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) SNV Uncertain Significance
36862 rs35766612 GRCh37: 3:30713834-30713834
GRCh38: 3:30672342-30672342
44 TGFBR2 NM_003242.5(TGFBR2):c.-307C>T SNV Uncertain Significance
344648 rs749340193 GRCh37: 3:30648069-30648069
GRCh38: 3:30606577-30606577
45 TGFBR1 NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) SNV Uncertain Significance
364100 rs886063223 GRCh37: 9:101900232-101900232
GRCh38: 9:99137950-99137950
46 SMAD3 NM_005902.4(SMAD3):c.984G>A (p.Pro328=) SNV Uncertain Significance
240273 rs150994304 GRCh37: 15:67477177-67477177
GRCh38: 15:67184839-67184839
47 TGFBR1 NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) SNV Uncertain Significance
364098 rs767785290 GRCh37: 9:101894926-101894926
GRCh38: 9:99132644-99132644
48 TGFBR2 NM_003242.6(TGFBR2):c.690G>A (p.Thr230_Cys231=) SNV Uncertain Significance
344658 rs201560560 GRCh37: 3:30713365-30713365
GRCh38: 3:30671873-30671873
49 SMAD3 NM_005902.4(SMAD3):c.885G>A (p.Arg295=) SNV Uncertain Significance
198533 rs139616052 GRCh37: 15:67477078-67477078
GRCh38: 15:67184740-67184740
50 TGFBR2 NM_003242.5(TGFBR2):c.-371A>C SNV Uncertain Significance
344646 rs886058297 GRCh37: 3:30648005-30648005
GRCh38: 3:30606513-30606513

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 GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Super pathways Score Top Affiliating Genes
1 13.87 ACTA2 COL3A1 COL5A1 FBN1 MYH11 MYLK
2
Show member pathways
13.74 ACTA2 COL3A1 COL5A1 EFEMP2 ELN FBN1
3
Show member pathways
13.71 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4
Show member pathways
13.45 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
5
Show member pathways
13.41 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6
Show member pathways
13.19 TGFBR1 TGFB3 TGFB2 FBN2 FBN1 ELN
7
Show member pathways
12.97 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 ACTA2
8
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
9
Show member pathways
12.92 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.87 TGFB3 TGFB2 FBN2 FBN1 ELN EFEMP2
11
Show member pathways
12.84 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
12
Show member pathways
12.84 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
13
Show member pathways
12.62 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.53 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
15
Show member pathways
12.48 TGIF1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4
16
Show member pathways
12.43 TGFBR2 TGFBR1 SMAD4 SMAD3
17 12.42 TGFBR2 TGFBR1 TGFB3 TGFB2
18 12.4 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
19
Show member pathways
12.36 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
20 12.34 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
21
Show member pathways
12.31 TGFB3 TGFB2 FBN1 COL5A1 COL3A1
22 12.31 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23 12.24 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
24 12.19 TGFBR2 TGFBR1 SMAD4 SMAD2
25
Show member pathways
12.12 TGIF1 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
26
Show member pathways
12.07 TGIF1 SMAD4 SMAD3 SMAD2
27
Show member pathways
12.04 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
28 12 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
29
Show member pathways
11.97 EFEMP2 ELN FBN1 FBN2 TGFB2 TGFB3
30
Show member pathways
11.96 SMAD4 SMAD3 SMAD2
31
Show member pathways
11.96 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
32 11.95 TGFBR1 TGFB3 TGFB2 GREM1
33 11.94 SMAD4 SMAD3 COL3A1
34 11.94 TGFB3 TGFB2 SMAD3 FBN1 ELN
35 11.91 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
36 11.9 SMAD3 SMAD2 ACTA2
37 11.89 TGFB3 TGFB2 ACTA2
38
Show member pathways
11.88 SMAD2 SMAD3 TGFB2
39 11.87 TGIF1 SMAD4 SMAD3 SMAD2
40
Show member pathways
11.85 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
41
Show member pathways
11.77 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42 11.75 SMAD4 SMAD3 SMAD2
43 11.69 SMAD2 SMAD3 SMAD4 TGFB3 TGFBR1 TGFBR2
44 11.65 COL3A1 COL5A1 TGFBR2
45 11.64 TGFBR1 SMAD4 SMAD3
46 11.59 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
47 11.58 TGFBR2 TGFBR1 TGFB2
48 11.57 TGFBR2 TGFB3 TGFB2
49 11.54 MYLK MYH11 ACTA2
50 11.54 TGFB3 SMAD4 SMAD3 SMAD2

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 matrix GO:0031012 10.1 FBN2 FBN1 ELN EFEMP2 COL5A1 COL3A1
2 basement membrane GO:0005604 9.97 FBN1 EFEMP2 COL5A1 ACTA2
3 elastic fiber GO:0071953 9.76 ELN EFEMP2
4 transforming growth factor beta ligand-receptor complex GO:0070021 9.73 TGFBR2 TGFBR1
5 microfibril GO:0001527 9.73 EFEMP2 FBN1 FBN2
6 activin responsive factor complex GO:0032444 9.71 SMAD4 SMAD2
7 heteromeric SMAD protein complex GO:0071144 9.63 SMAD4 SMAD3 SMAD2
8 collagen-containing extracellular matrix GO:0062023 9.58 TGFB3 TGFB2 GREM1 FBN2 FBN1 ELN
9 SMAD protein complex GO:0071141 9.43 SMAD4 SMAD3 SMAD2

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 population proliferation GO:0008285 10.41 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
2 heart development GO:0007507 10.33 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1 COL3A1
3 response to hypoxia GO:0001666 10.32 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR2
4 anatomical structure morphogenesis GO:0009653 10.31 SMAD4 SMAD3 SMAD2 FBN2 FBN1
5 negative regulation of cell growth GO:0030308 10.28 GREM1 SMAD3 SMAD4 TGFB2
6 regulation of cell population proliferation GO:0042127 10.26 TGFBR2 TGFB3 TGFB2 SMAD4
7 in utero embryonic development GO:0001701 10.25 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 SMAD2
8 skeletal system development GO:0001501 10.24 TGFBR1 TGFB2 SMAD3 FBN1
9 positive regulation of stress fiber assembly GO:0051496 10.18 TGFBR1 TGFB3 SMAD3
10 positive regulation of miRNA transcription GO:1902895 10.18 SMAD3 SMAD4 TGFB2
11 ventricular septum morphogenesis GO:0060412 10.18 TGFBR2 TGFBR1 TGFB2 SMAD4
12 embryonic limb morphogenesis GO:0030326 10.17 TGFB2 GREM1 FBN2
13 embryonic cranial skeleton morphogenesis GO:0048701 10.17 TGFBR2 TGFBR1 SMAD3 SMAD2
14 positive regulation of bone mineralization GO:0030501 10.16 FBN2 SMAD3 TGFB3
15 skin development GO:0043588 10.16 SLC2A10 COL5A1 COL3A1
16 kidney development GO:0001822 10.16 TGFBR1 TGFB2 SMAD4 FBN1
17 SMAD protein signal transduction GO:0060395 10.16 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
18 digestive tract development GO:0048565 10.14 COL3A1 TGFB3 TGFBR2
19 BMP signaling pathway GO:0030509 10.14 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
20 outflow tract septum morphogenesis GO:0003148 10.13 SMAD4 TGFB2 TGFBR2
21 collagen fibril organization GO:0030199 10.13 COL3A1 COL5A1 GREM1 TGFB2 TGFBR1
22 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 10.12 SMAD2 SMAD3 SMAD4
23 adrenal gland development GO:0030325 10.12 SMAD4 SMAD3 SMAD2
24 blood vessel development GO:0001568 10.11 TGFBR2 COL5A1 COL3A1
25 cell-cell junction organization GO:0045216 10.11 TGFB3 TGFB2 SMAD3
26 epithelial to mesenchymal transition GO:0001837 10.1 SMAD4 TGFB2 TGFBR1
27 positive regulation of SMAD protein signal transduction GO:0060391 10.09 TGFBR1 TGFB3 SMAD4
28 pathway-restricted SMAD protein phosphorylation GO:0060389 10.08 TGFB2 TGFBR1 TGFBR2
29 elastic fiber assembly GO:0048251 10.08 MYH11 EFEMP2 COL3A1
30 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.07 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
31 response to cholesterol GO:0070723 10.06 SMAD2 TGFBR1 TGFBR2
32 transforming growth factor beta receptor signaling pathway GO:0007179 10.06 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
33 developmental growth GO:0048589 10.05 SMAD4 SMAD3 SMAD2
34 gastrulation GO:0007369 10.03 TGFBR2 SMAD4 SMAD3 SMAD2
35 pericardium development GO:0060039 10.02 SMAD3 SMAD2
36 embryonic foregut morphogenesis GO:0048617 10.02 SMAD3 SMAD2
37 endothelial cell activation GO:0042118 10.02 TGFBR1 SMAD4
38 SMAD protein complex assembly GO:0007183 10.02 SMAD2 SMAD3 SMAD4
39 activin receptor signaling pathway GO:0032924 10.02 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
40 membranous septum morphogenesis GO:0003149 10.01 TGFB2 TGFBR2
41 salivary gland morphogenesis GO:0007435 10.01 TGFB3 TGFB2
42 common-partner SMAD protein phosphorylation GO:0007182 10 TGFBR2 SMAD2
43 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 10 TGFBR2 TGFBR1 TGFB2
44 aorta smooth muscle tissue morphogenesis GO:0060414 9.99 MYLK EFEMP2 COL3A1
45 endocardial cushion fusion GO:0003274 9.98 TGFBR2 TGFB2
46 sequestering of TGFbeta in extracellular matrix GO:0035583 9.97 FBN2 FBN1
47 regulation of transforming growth factor beta2 production GO:0032909 9.97 SMAD3 SMAD4 TGFB2
48 positive regulation of tight junction disassembly GO:1905075 9.96 TGFBR1 TGFB3
49 endoderm development GO:0007492 9.96 SMAD4 SMAD3 SMAD2
50 secondary palate development GO:0062009 9.96 SMAD2 SMAD4 TGFB2 TGFB3 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 extracellular matrix structural constituent GO:0005201 10.1 COL3A1 COL5A1 EFEMP2 ELN FBN1 FBN2
2 transforming growth factor beta binding GO:0050431 9.95 TGFBR2 TGFBR1 TGFB3
3 R-SMAD binding GO:0070412 9.93 SMAD4 SMAD3 SMAD2
4 type I transforming growth factor beta receptor binding GO:0034713 9.91 TGFBR2 TGFB3 SMAD2
5 type II transforming growth factor beta receptor binding GO:0005114 9.88 TGFBR1 TGFB3 TGFB2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.85 FBN2 FBN1 ELN
7 transforming growth factor beta receptor activity GO:0005024 9.8 TGFBR2 TGFBR1
8 I-SMAD binding GO:0070411 9.76 TGFBR1 SMAD4 SMAD3 SMAD2
9 type III transforming growth factor beta receptor binding GO:0034714 9.65 TGFBR2 TGFB3 TGFB2
10 transforming growth factor beta receptor binding GO:0005160 9.5 TGFB3 TGFB2 SMAD3 SMAD2
11 SMAD binding GO:0046332 9.32 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2 COL3A1

Sources for Loeys-Dietz Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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