LDS
MCID: LYS001
MIFTS: 65

Loeys-Dietz Syndrome (LDS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome

MalaCards integrated aliases for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 12 24 52 25 58 36 29 6 43 15 71
Loeys-Dietz Aortic Aneurysm Syndrome 24 52 25 71
Aortic Aneurysm Syndrome Due to Tgf-Beta Receptors Anomalies 58
Aortic Aneurysm Syndrome, Loeys-Dietz Type 52
Syndrome, Loeys-Dietz 39
Furlong Syndrome 71
Lds 25

Characteristics:

Orphanet epidemiological data:

58
loeys-dietz syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

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

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. 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 2 and loeys-dietz syndrome 5. 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. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are pes planus and high palate

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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.

KEGG : 36 Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the absence of craniofacial involvement, respectively. LDS3 is associated with early-onset osteoarthritis and caused by mutation in the SMAD3 gene. LDS4 and LDS5 are caused by mutation in the TGFB2 and TGFB3 gene, respectively.

Wikipedia : 74 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

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

(show top 50) (show all 344)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 35.7 TMPO-AS1 TMPO TGFBR2 GGCT
2 loeys-dietz syndrome 5 35.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3 loeys-dietz syndrome 4 35.5 TGFBR2 TGFBR1 TGFB3 TGFB2-OT1 TGFB2 SMAD3
4 loeys-dietz syndrome 3 35.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
5 loeys-dietz syndrome 1 35.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6 orthostatic intolerance 33.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYH11
7 familial thoracic aortic aneurysm and aortic dissection 33.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
8 arterial tortuosity syndrome 32.3 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
9 aortic dissection 32.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYH11
10 marfan syndrome 32.2 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 FBN2
11 aortic aneurysm 32.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
12 aneurysm 32.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
13 scoliosis 32.1 TGFBR2 TGFB2 FBN2 FBN1 COL5A1
14 craniosynostosis 32.0 TGFBR2 TGFBR1 SMAD6 SMAD3 FBN1
15 ehlers-danlos syndrome 32.0 TGFBR1 MYH11 FBN2 FBN1 COL5A2 COL5A1
16 patent ductus arteriosus 1 31.7 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
17 connective tissue disease 31.7 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
18 aortic disease 31.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
19 aortic valve insufficiency 31.7 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
20 distal arthrogryposis 31.6 TGFB3 GGCT FBN2 FBN1
21 intracranial aneurysm 31.5 TGFBR2 TGFBR1 TGFB2 FBN2 COL3A1
22 pectus carinatum 31.5 FBN1 COL5A2
23 multiple self-healing squamous epithelioma 31.4 TGFBR2 TGFBR1
24 heritable thoracic aortic disease 31.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
25 aortic aneurysm, familial thoracic 1 31.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
26 contractural arachnodactyly, congenital 31.3 GGCT FBN2 FBN1
27 mitral valve disease 31.3 TGFB3 TGFB2 FBN1
28 odontochondrodysplasia 31.2 TGFB3 FBN1 COL5A2 COL5A1 COL3A1
29 carotid artery dissection 31.2 MYLK COL3A1
30 aortic valve disease 1 31.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
31 hypermobility syndrome 30.7 FBN1 COL5A2 COL5A1 COL3A1
32 lipoprotein types--ld system 12.4
33 shprintzen-goldberg craniosynostosis syndrome 12.1
34 myoclonic epilepsy of lafora 11.9
35 lymphedema-distichiasis syndrome 11.6
36 meester-loeys syndrome 11.6
37 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.6
38 recombination rate quantitative trait locus 1 11.3
39 legionnaire disease 11.3
40 restrictive dermopathy, lethal 11.2
41 lactate dehydrogenase deficiency 11.2
42 hypertelorism 11.0
43 cleft palate, isolated 11.0
44 learning disability 10.9
45 microcolon 10.7 MYLK MYH11
46 pectus excavatum 10.7
47 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.7
48 clubfoot 10.7
49 pulsating exophthalmos 10.7 TGFBR2 TGFBR1 COL3A1
50 familial abdominal aortic aneurysm 10.7 MYLK FBN1 COL3A1

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 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 aortic dissection 58 31 hallmark (90%) Very frequent (99-80%) HP:0002647
4 arterial dissection 58 31 hallmark (90%) Very frequent (99-80%) HP:0005294
5 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
6 uterine rupture 58 31 hallmark (90%) Very frequent (99-80%) HP:0100718
7 aortic aneurysm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004942
8 arterial tortuosity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005116
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
13 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
14 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
15 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
16 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
17 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
18 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
19 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
20 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
21 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
22 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
23 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
24 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
25 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
26 thin skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000963
27 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%) HP:0001695
28 abnormal bleeding 58 Occasional (29-5%)
29 aneurysm 58 Very frequent (99-80%)
30 oral cleft 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ACTA2 COL3A1 COL5A1 COL5A2 FBN1 FBN2
2 growth/size/body region MP:0005378 10.25 COL3A1 COL5A1 COL5A2 FBN1 FBN2 MYH11
3 cellular MP:0005384 10.24 COL3A1 FBN1 FBN2 MYH11 SMAD2 SMAD3
4 mortality/aging MP:0010768 10.21 COL3A1 COL5A1 COL5A2 FBN1 FBN2 MYH11
5 digestive/alimentary MP:0005381 10.16 COL3A1 MYH11 MYLK SMAD2 SMAD3 TGFB2
6 integument MP:0010771 10.14 COL3A1 COL5A1 COL5A2 FBN1 FBN2 MYH11
7 craniofacial MP:0005382 10.02 FBN1 FBN2 SMAD2 SMAD3 TGFB2 TGFB3
8 muscle MP:0005369 10.02 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
9 respiratory system MP:0005388 9.85 COL3A1 COL5A2 FBN1 FBN2 MYH11 SMAD2
10 renal/urinary system MP:0005367 9.8 FBN1 FBN2 MYH11 MYLK SMAD3 TGFB2
11 skeleton MP:0005390 9.65 COL5A2 FBN1 FBN2 MYLK SMAD2 SMAD3
12 vision/eye MP:0005391 9.28 ACTA2 COL5A1 COL5A2 FBN2 SMAD2 SMAD3

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 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
2 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair. Correlation of Surgical and ECO Distinctive Features With Histologic and Genetic Findings in Phenotypically Homogeneous Outlier Cases (GISSI VAR) Completed NCT02283970
3 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
4 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm : Prevalence, Description of the Different Thoracic Aortic Phenotypes by Aortic Volumetric Numerized Imaging and Their Relationship With Epidemiologic, Clinical, Biological and Genetic Factors Completed NCT01599533
5 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
6 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
7 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657
8 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
9 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113

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:

40
Skin, Heart, Eye, Brain, Bone, Spinal Cord, Lung

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 487)
# Title Authors PMID Year
1
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 24 6 61
16928994 2006
2
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 6 24
15731757 2005
3
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 61 6
21522183 2011
4
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 6 61
19542084 2009
5
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. 61 6
18070134 2008
6
Loeys-Dietz Syndrome 61 6
20301312 2008
7
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 6 61
16791849 2006
8
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 6 61
16596670 2006
9
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. 61 24
29270370 2017
10
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. 24 61
28544325 2017
11
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
12
Loeys-Dietz syndrome and pregnancy: The first ten years. 61 24
27780078 2017
13
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
14
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 24 61
25434006 2014
15
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
16
Loeys-Dietz syndrome: a primer for diagnosis and management. 24 61
24577266 2014
17
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 61 24
24355923 2014
18
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. 61 24
24333532 2014
19
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
20
TGFβ receptor mutations impose a strong predisposition for human allergic disease. 24 61
23884466 2013
21
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 24 61
23554019 2013
22
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 24 61
23023332 2012
23
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 61 24
22772368 2012
24
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
25
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. 24 61
21567932 2011
26
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 24 61
21217753 2011
27
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. 61 24
20813212 2010
28
The Loeys-Dietz syndrome: an update for the clinician. 61 24
20838339 2010
29
Musculoskeletal findings of Loeys-Dietz syndrome. 24 61
20686062 2010
30
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 24 61
20358619 2010
31
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 24 61
19996017 2009
32
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 24 61
19639654 2009
33
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 24 61
18852674 2009
34
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. 61 24
19816028 2009
35
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. 24 61
17470566 2007
36
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 24 61
16550171 2006
37
Familial aortic dissecting aneurysm. 6
2647812 1989
38
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 24
28401540 2017
39
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. 24
28659821 2017
40
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 24
27879313 2016
41
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. 24
27792790 2016
42
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 24
26838787 2016
43
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 24
26854927 2016
44
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. 24
26247899 2015
45
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 24
25835445 2015
46
MAT2A mutations predispose individuals to thoracic aortic aneurysms. 24
25557781 2015
47
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 24
23910461 2013
48
De novo mutations in histone-modifying genes in congenital heart disease. 24
23665959 2013
49
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 24
21937134 2013
50
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection. 24
22803640 2013

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6 (show top 50) (show all 360) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR1 NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val)SNV Pathogenic 492846 rs1554701911 9:101907098-101907098 9:99144816-99144816
2 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)SNV Pathogenic 12511 rs104893815 3:30732970-30732970 3:30691478-30691478
3 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)SNV Pathogenic 12512 rs104893810 3:30732969-30732969 3:30691477-30691477
4 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)SNV Pathogenic 12519 rs104893819 3:30729962-30729962 3:30688470-30688470
5 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)SNV Pathogenic 12525 rs113605875 9:101911535-101911535 9:99149253-99149253
6 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)SNV Pathogenic 12526 rs111426349 9:101911534-101911534 9:99149252-99149252
7 FBN1 NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys)SNV Pathogenic 16457 rs137854478 15:48780430-48780430 15:48488233-48488233
8 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)SNV Pathogenic 177704 rs727504292 3:30713742-30713742 3:30672250-30672250
9 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)SNV Pathogenic 180541 rs727504421 3:30732957-30732957 3:30691465-30691465
10 TGFBR1 NM_004612.4(TGFBR1):c.680_682AAG[1] (p.Glu228del)short repeat Pathogenic 213896 rs863223829 9:101900244-101900246 9:99137962-99137964
11 TGFBR1 NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)SNV Pathogenic/Likely pathogenic 213882 rs760079636 9:101904946-101904946 9:99142664-99142664
12 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)SNV Pathogenic/Likely pathogenic 180524 rs730880214 15:67473780-67473780 15:67181442-67181442
13 TGFB2 NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter)SNV Pathogenic/Likely pathogenic 180536 rs730880221 1:218607457-218607457 1:218434115-218434115
14 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)SNV Pathogenic/Likely pathogenic 12524 rs111854391 9:101900288-101900288 9:99138006-99138006
15 TGFB2 NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter)SNV Pathogenic/Likely pathogenic 222832 rs869025531 1:218578555-218578555 1:218405213-218405213
16 TGFB2 NM_001135599.3(TGFB2):c.454dup (p.Arg152fs)duplication Likely pathogenic 222834 rs869025533 1:218578533-218578534 1:218405191-218405192
17 TGFBR2 NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)SNV Likely pathogenic 222839 rs869025537 3:30713727-30713727 3:30672235-30672235
18 TGFBR1 NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)SNV Likely pathogenic 263773 rs886038919 9:101900323-101900323 9:99138041-99138041
19 SMAD3 NM_005902.4(SMAD3):c.206+1G>CSNV Likely pathogenic 667425 15:67358699-67358699 15:67066361-67066361
20 TGFBR2 NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)SNV Likely pathogenic 36866 rs193922664 3:30732927-30732927 3:30691435-30691435
21 TGFBR2 NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)SNV Likely pathogenic 36868 rs193922665 3:30691808-30691808 3:30650316-30650316
22 TGFBR2 NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)SNV Likely pathogenic 44657 rs397516840 3:30729974-30729974 3:30688482-30688482
23 COL3A1 NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)SNV Likely pathogenic 101484 rs587779715 2:189872815-189872815 2:189008089-189008089
24 TGFBR1 NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)SNV Likely pathogenic 180539 rs730880223 9:101911519-101911519 9:99149237-99149237
25 TGFBR2 NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)SNV Likely pathogenic 180540 rs730880224 3:30715619-30715619 3:30674127-30674127
26 TGFBR2 NM_003242.6(TGFBR2):c.1524+1G>ASNV Likely pathogenic 165395 rs727503475 3:30730004-30730004 3:30688512-30688512
27 TGFBR2 NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)SNV Likely pathogenic 165399 rs727503477 3:30732978-30732978 3:30691486-30691486
28 TGFBR2 NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)SNV Likely pathogenic 155839 rs587782979 3:30715724-30715724 3:30674232-30674232
29 SMAD3 NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)SNV Likely pathogenic 180525 rs730880215 15:67473791-67473791 15:67181453-67181453
30 SMAD3 NM_005902.4(SMAD3):c.885G>A (p.Arg295=)SNV Conflicting interpretations of pathogenicity 198533 rs139616052 15:67477078-67477078 15:67184740-67184740
31 TGFBR2 NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)SNV Conflicting interpretations of pathogenicity 213939 rs768385200 3:30691865-30691865 3:30650373-30650373
32 TGFBR2 NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)SNV Conflicting interpretations of pathogenicity 213943 rs863223857 3:30713577-30713577 3:30672085-30672085
33 COL3A1 NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)SNV Conflicting interpretations of pathogenicity 161218 rs111840783 2:189875018-189875018 2:189010292-189010292
34 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)SNV Conflicting interpretations of pathogenicity 161394 rs112215250 3:30733044-30733044 3:30691552-30691552
35 MYH11 NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)SNV Conflicting interpretations of pathogenicity 161317 rs150759461 16:15872688-15872688 16:15778831-15778831
36 TGFBR2 NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)SNV Conflicting interpretations of pathogenicity 165398 rs727503476 3:30732967-30732967 3:30691475-30691475
37 TGFBR1 NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)SNV Conflicting interpretations of pathogenicity 177810 rs148176750 9:101894862-101894862 9:99132580-99132580
38 TGFBR1 NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)SNV Conflicting interpretations of pathogenicity 45097 rs190878719 9:101894975-101894975 9:99132693-99132693
39 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342
40 TGFBR2 NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)SNV Conflicting interpretations of pathogenicity 12502 rs34833812 3:30713619-30713619 3:30672127-30672127
41 TGFBR2 NM_003242.6(TGFBR2):c.383del (p.Lys128fs)deletion Conflicting interpretations of pathogenicity 477546 rs79375991 3:30691872-30691872 3:30650380-30650380
42 TGFBR2 NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)SNV Conflicting interpretations of pathogenicity 36860 rs193922660 3:30713826-30713826 3:30672334-30672334
43 TGFBR2 NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)SNV Conflicting interpretations of pathogenicity 36862 rs35766612 3:30713834-30713834 3:30672342-30672342
44 COL5A1 NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met)SNV Conflicting interpretations of pathogenicity 492837 rs375076580 9:137716495-137716495 9:134824649-134824649
45 TGFBR2 NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)SNV Conflicting interpretations of pathogenicity 36859 rs35719192 3:30713794-30713794 3:30672302-30672302
46 SMAD3 NM_005902.4(SMAD3):c.207-10G>ASNV Conflicting interpretations of pathogenicity 284209 rs201912204 15:67457223-67457223 15:67164885-67164885
47 TGFB2 NM_001135599.3(TGFB2):c.594+12TTG[12]short repeat Conflicting interpretations of pathogenicity 228320 rs10482769 1:218578685-218578686 1:218405343-218405344
48 SMAD3 NM_005902.4(SMAD3):c.984G>A (p.Pro328=)SNV Conflicting interpretations of pathogenicity 240273 rs150994304 15:67477177-67477177 15:67184839-67184839
49 SMAD3 NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)SNV Conflicting interpretations of pathogenicity 252654 rs202094530 15:67462920-67462920 15:67170582-67170582
50 TGFBR2 NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)SNV Conflicting interpretations of pathogenicity 344658 rs201560560 3:30713365-30713365 3:30671873-30671873

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 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2
Show member pathways
13.34 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
3
Show member pathways
13.29 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4
Show member pathways
13.12 TGFBR1 TGFB3 TGFB2 FBN2 FBN1 COL5A2
5
Show member pathways
13.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
6
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 ACTA2
7
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
8
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9 12.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10
Show member pathways
12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
11
Show member pathways
12.8 TGFB3 TGFB2 FBN2 FBN1 COL5A2 COL5A1
12
Show member pathways
12.69 TGFBR2 TGFBR1 SMAD2 COL3A1 ACTA2
13
Show member pathways
12.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
14
Show member pathways
12.53 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15 12.41 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 12.4 TGFBR2 TGFBR1 SMAD3 SMAD2
17 12.37 TGFB3 TGFB2 SMAD3 SMAD2
18
Show member pathways
12.31 TGFBR2 TGFBR1 SMAD3 SMAD2
19 12.29 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
20
Show member pathways
12.27 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
21 12.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
22 12.22 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
23 12.21 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
24 12.18 TGFBR2 TGFBR1 SMAD6 SMAD2
25
Show member pathways
12.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
26 12.15 TGFBR1 SMAD3 SMAD2 MYLK ACTA2
27 12.11 TGFBR2 TGFBR1 SMAD3 SMAD2
28
Show member pathways
11.93 TGFBR2 TGFBR1 SMAD3 SMAD2
29 11.92 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
30 11.9 TGFB3 TGFB2 COL3A1
31 11.87 TGFB3 TGFB2 ACTA2
32 11.84 TGFBR1 TGFB3 TGFB2
33
Show member pathways
11.84 TGFBR2 TGFBR1 SMAD3 SMAD2
34
Show member pathways
11.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
35
Show member pathways
11.81 TGFB3 TGFB2 FBN2 FBN1
36 11.8 TGFBR2 TGFBR1 SMAD3 SMAD2
37 11.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
38
Show member pathways
11.78 TGFBR2 TGFBR1 SMAD3 SMAD2
39 11.73 TGFBR2 TGFBR1 SMAD3
40 11.67 TGFBR2 TGFBR1 SMAD6 SMAD3 SMAD2
41
Show member pathways
11.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
42 11.6 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
43 11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
44 11.56 TGFBR2 TGFBR1 TGFB2
45 11.5 COL5A2 COL5A1 COL3A1
46 11.41 MYLK MYH11 ACTA2
47 11.3 TGFBR2 TGFBR1 TGFB3 SMAD2
48
Show member pathways
11.28 TGFBR2 TGFBR1 TGFB3
49 11.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
50 11.15 TGFBR2 TGFBR1 SMAD3

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 endoplasmic reticulum lumen GO:0005788 9.73 FBN1 COL5A2 COL5A1 COL3A1
2 collagen trimer GO:0005581 9.58 COL5A2 COL5A1 COL3A1
3 extracellular matrix GO:0031012 9.55 FBN2 FBN1 COL5A2 COL5A1 COL3A1
4 microfibril GO:0001527 9.37 FBN2 FBN1
5 SMAD protein complex GO:0071141 9.32 SMAD3 SMAD2
6 collagen type V trimer GO:0005588 9.26 COL5A2 COL5A1
7 collagen-containing extracellular matrix GO:0062023 9.17 TGFB3 TGFB2 FBN2 FBN1 COL5A2 COL5A1
8 heteromeric SMAD protein complex GO:0071144 8.96 SMAD3 SMAD2

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.04 TGFBR2 TGFB3 TGFB2 SMAD6 SMAD3 SMAD2
2 extracellular matrix organization GO:0030198 10 FBN2 FBN1 COL5A2 COL5A1 COL3A1
3 response to hypoxia GO:0001666 9.98 TGFBR2 TGFB3 TGFB2 SMAD3
4 heart development GO:0007507 9.97 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1 COL3A1
5 in utero embryonic development GO:0001701 9.95 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
6 muscle contraction GO:0006936 9.91 MYLK MYH11 ACTA2
7 skeletal system development GO:0001501 9.91 TGFBR1 TGFB2 SMAD3 FBN1 COL5A2 COL3A1
8 BMP signaling pathway GO:0030509 9.89 TGFB3 TGFB2 SMAD6
9 response to estrogen GO:0043627 9.87 TGFBR2 TGFB3 SMAD6
10 blood vessel development GO:0001568 9.87 TGFBR2 COL5A1 COL3A1
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.87 TGFBR1 SMAD3 FBN1
12 positive regulation of stress fiber assembly GO:0051496 9.86 TGFBR1 TGFB3 SMAD3
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.85 TGFBR1 TGFB3 TGFB2
14 skin development GO:0043588 9.85 COL5A2 COL5A1 COL3A1
15 ureteric bud development GO:0001657 9.84 SMAD6 SMAD3 SMAD2
16 SMAD protein signal transduction GO:0060395 9.84 TGFB3 TGFB2 SMAD3 SMAD2
17 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.82 TGFB2 SMAD6 SMAD3
18 ventricular septum morphogenesis GO:0060412 9.82 TGFBR2 TGFBR1 TGFB2
19 positive regulation of bone mineralization GO:0030501 9.81 TGFB3 SMAD3 FBN2
20 gastrulation GO:0007369 9.81 TGFBR2 SMAD3 SMAD2
21 digestive tract development GO:0048565 9.79 TGFBR2 TGFB3 COL3A1
22 outflow tract septum morphogenesis GO:0003148 9.78 TGFBR2 TGFB2 SMAD6
23 embryonic cranial skeleton morphogenesis GO:0048701 9.78 TGFBR2 TGFBR1 SMAD3 SMAD2
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.73 TGFBR1 TGFB2
25 positive regulation of SMAD protein signal transduction GO:0060391 9.73 TGFBR1 TGFB3
26 pulmonary valve morphogenesis GO:0003184 9.73 TGFB2 SMAD6
27 cell-cell junction organization GO:0045216 9.73 TGFB3 TGFB2 SMAD3
28 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.73 TGFBR2 TGFBR1 TGFB3 SMAD6 SMAD3 SMAD2
29 supramolecular fiber organization GO:0097435 9.72 COL5A1 COL3A1
30 cardiac epithelial to mesenchymal transition GO:0060317 9.72 TGFBR1 TGFB2
31 atrioventricular valve morphogenesis GO:0003181 9.72 TGFBR2 TGFB2
32 embryonic eye morphogenesis GO:0048048 9.72 FBN2 FBN1
33 collagen fibril organization GO:0030199 9.72 TGFBR1 TGFB2 COL5A2 COL5A1 COL3A1
34 nodal signaling pathway GO:0038092 9.71 SMAD3 SMAD2
35 primary miRNA processing GO:0031053 9.71 SMAD3 SMAD2
36 salivary gland morphogenesis GO:0007435 9.71 TGFB3 TGFB2
37 membranous septum morphogenesis GO:0003149 9.71 TGFBR2 TGFB2
38 pericardium development GO:0060039 9.71 SMAD3 SMAD2
39 activin receptor signaling pathway GO:0032924 9.71 TGFBR2 TGFBR1 SMAD3 SMAD2
40 embryonic foregut morphogenesis GO:0048617 9.7 SMAD3 SMAD2
41 response to laminar fluid shear stress GO:0034616 9.7 TGFB3 SMAD6
42 pathway-restricted SMAD protein phosphorylation GO:0060389 9.7 TGFBR2 TGFBR1 TGFB2
43 SMAD protein complex assembly GO:0007183 9.69 SMAD3 SMAD2
44 common-partner SMAD protein phosphorylation GO:0007182 9.69 TGFBR2 SMAD2
45 response to cholesterol GO:0070723 9.69 TGFBR2 TGFBR1 SMAD2
46 aorta smooth muscle tissue morphogenesis GO:0060414 9.68 MYLK COL3A1
47 negative regulation of macrophage cytokine production GO:0010936 9.68 TGFB3 TGFB2
48 secondary palate development GO:0062009 9.67 TGFBR2 TGFB3 TGFB2 SMAD2
49 regulation of binding GO:0051098 9.66 SMAD3 SMAD2
50 sequestering of TGFbeta in extracellular matrix GO:0035583 9.66 FBN2 FBN1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.72 FBN2 FBN1 COL5A2 COL5A1 COL3A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.67 COL5A2 COL5A1 COL3A1
3 transforming growth factor beta binding GO:0050431 9.63 TGFBR2 TGFBR1 TGFB3
4 R-SMAD binding GO:0070412 9.61 SMAD6 SMAD3 SMAD2
5 activin binding GO:0048185 9.58 TGFBR2 TGFBR1
6 enhancer binding GO:0035326 9.58 SMAD3 SMAD2
7 co-SMAD binding GO:0070410 9.58 SMAD6 SMAD3 SMAD2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.57 TGFBR2 TGFBR1
9 platelet-derived growth factor binding GO:0048407 9.56 COL5A1 COL3A1
10 primary miRNA binding GO:0070878 9.55 SMAD3 SMAD2
11 extracellular matrix constituent conferring elasticity GO:0030023 9.54 FBN2 FBN1
12 I-SMAD binding GO:0070411 9.54 TGFBR1 SMAD6 SMAD2
13 transforming growth factor beta-activated receptor activity GO:0005024 9.52 TGFBR2 TGFBR1
14 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.51 SMAD3 SMAD2
15 type III transforming growth factor beta receptor binding GO:0034714 9.48 TGFB3 TGFB2
16 transforming growth factor beta receptor binding GO:0005160 9.46 TGFB3 TGFB2 SMAD3 SMAD2
17 type II transforming growth factor beta receptor binding GO:0005114 9.43 TGFBR1 TGFB3 TGFB2
18 type I transforming growth factor beta receptor binding GO:0034713 9.26 TGFBR2 TGFB3 SMAD6 SMAD2
19 SMAD binding GO:0046332 9.1 TGFBR2 TGFBR1 SMAD3 SMAD2 COL5A2 COL3A1

Sources for Loeys-Dietz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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