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 25 20 43 58 36 29 6 44 15 70
Loeys-Dietz Aortic Aneurysm Syndrome 25 20 43 70
Aortic Aneurysm Syndrome, Loeys-Dietz Type 20 6
Aortic Aneurysm Syndrome Due to Tgf-Beta Receptors Anomalies 58
Syndrome, Loeys-Dietz 39
Furlong Syndrome 70
Lds 43

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

25
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 : 43 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 heart, spinal cord and eye, and related phenotypes are high palate and pes planus

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.

GARD : 20 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 : 73 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 218)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 33.5 TMPO TGFBR2 TGFBR1 MYH11 FBN1
2 loeys-dietz syndrome 5 33.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3 loeys-dietz syndrome 4 33.4 TGFBR2 TGFBR1 TGFB3 TGFB2-OT1 TGFB2 SMAD3
4 loeys-dietz syndrome 1 33.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
5 loeys-dietz syndrome 3 33.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
6 familial thoracic aortic aneurysm and aortic dissection 32.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
7 orthostatic intolerance 32.0 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN2
8 arterial tortuosity syndrome 31.7 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 COL3A1
9 ehlers-danlos syndrome 31.5 TGFBR1 FBN1 COL5A2 COL5A1 COL3A1
10 aortic aneurysm 31.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
11 scoliosis 31.5 TGFBR2 TGFB2 SMAD3 FBN2 FBN1 COL5A1
12 aneurysm 31.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
13 marfan syndrome 31.4 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 LOC113939944
14 hypermobile ehlers-danlos syndrome 31.4 FBN1 COL5A2 COL5A1
15 craniosynostosis 31.4 TGFBR2 TGFBR1 SMAD6 FBN1
16 aortic dissection 31.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
17 aortic aneurysm, familial thoracic 4 31.3 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 LOC113939944
18 aortic valve insufficiency 31.1 TGFBR2 TGFBR1 MYH11 FBN2 FBN1 ACTA2
19 patent ductus arteriosus 1 31.1 TGFBR2 TGFBR1 MYLK MYH11 FBN1 ACTA2
20 connective tissue disease 31.1 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
21 aortic disease 31.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
22 intracranial aneurysm 30.9 TGFBR2 TGFBR1 TGFB2 FBN2 COL3A1
23 aortic aneurysm, familial abdominal, 1 30.9 TGFBR2 MYH11 FBN1 COL3A1 ACTA2
24 pectus carinatum 30.9 FBN1 COL5A2
25 subclavian artery aneurysm 30.8 TGFBR2 FBN1
26 mitral valve disease 30.8 TGFB3 TGFB2 FBN1
27 aortic aneurysm, familial thoracic 1 30.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
28 weill-marchesani syndrome 30.7 LOC113939944 FBN2 FBN1
29 heritable thoracic aortic disease 30.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
30 multiple self-healing squamous epithelioma 30.7 TGFBR2 TGFBR1
31 ehlers-danlos syndrome, vascular type 30.6 TGFB2 MYH11 FBN1 COL5A1 COL3A1 ACTA2
32 stickler syndrome 30.6 FBN1 COL5A2 COL5A1
33 osteochondrodysplasia 30.5 FBN1 COL5A2 COL5A1 COL3A1
34 fibromuscular dysplasia 30.5 MYLK COL5A1
35 shprintzen-goldberg craniosynostosis syndrome 11.5
36 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
37 meester-loeys syndrome 11.2
38 hypertelorism 10.9
39 cleft palate, isolated 10.8
40 pectus excavatum 10.6
41 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.5
42 clubfoot 10.5
43 mitochondrial dna depletion syndrome 12b 10.5 TGFBR2 TGFBR1 FBN1
44 pulsating exophthalmos 10.5 TGFBR2 TGFBR1 COL3A1
45 microcolon 10.5 MYLK MYH11
46 peyronie's disease 10.5 TGFB3 TGFB2 SMAD3
47 cerebral aneurysms 10.5
48 bullous keratopathy 10.5 TGFB3 TGFB2 FBN1
49 hypertrophic scars 10.5 SMAD3 SMAD2 FBN1
50 keratopathy 10.5 TGFB3 TGFB2 FBN1

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 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
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 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
23 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
24 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
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 dilatation 58 Very frequent (99-80%)
30 oral cleft 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 ACTA2 COL3A1 COL5A1 COL5A2 FBN1 FBN2
2 growth/size/body region MP:0005378 10.32 COL3A1 COL5A1 COL5A2 FBN1 FBN2 GREM1
3 cellular MP:0005384 10.31 COL3A1 FBN1 FBN2 GREM1 MYH11 SMAD2
4 homeostasis/metabolism MP:0005376 10.27 COL3A1 FBN1 FBN2 GREM1 MYH11 MYLK
5 mortality/aging MP:0010768 10.24 COL3A1 COL5A1 COL5A2 FBN1 FBN2 GREM1
6 digestive/alimentary MP:0005381 10.21 COL3A1 MYH11 MYLK SMAD2 SMAD3 TGFB2
7 integument MP:0010771 10.17 COL3A1 COL5A1 COL5A2 FBN1 FBN2 MYH11
8 embryo MP:0005380 10.15 COL5A1 FBN1 GREM1 SMAD2 SMAD3 TGFB2
9 craniofacial MP:0005382 10.07 FBN1 FBN2 SMAD2 SMAD3 TGFB2 TGFB3
10 muscle MP:0005369 10.02 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
11 limbs/digits/tail MP:0005371 9.95 FBN1 FBN2 GREM1 SMAD3 TGFB2 TGFB3
12 respiratory system MP:0005388 9.9 COL3A1 COL5A2 FBN1 FBN2 GREM1 MYH11
13 renal/urinary system MP:0005367 9.86 FBN1 FBN2 GREM1 MYH11 MYLK SMAD3
14 skeleton MP:0005390 9.7 COL5A2 FBN1 FBN2 GREM1 MYLK SMAD2
15 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 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
3 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
4 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
5 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
Heart, Spinal Cord, Eye, Bone, Skin, Myeloid, Liver

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 527)
# Title Authors PMID Year
1
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 6 61 25
18852674 2009
2
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. 6 25 61
17470566 2007
3
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 61 25 6
16928994 2006
4
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 25 6
27879313 2016
5
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 6 25
21358634 2011
6
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 25 6
15731757 2005
7
Genetic testing of 10 patients with features of Loeys-Dietz syndrome. 6 61
26877057 2016
8
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. 61 6
26848186 2016
9
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. 6 61
24146167 2014
10
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. 61 6
24220024 2013
11
TGFβ receptor mutations impose a strong predisposition for human allergic disease. 6 61
23884466 2013
12
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. 6 61
22095581 2012
13
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 6 61
22113417 2012
14
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 6 61
21267002 2011
15
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 61 6
21098638 2010
16
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 6 61
19542084 2009
17
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. 6 61
18781618 2008
18
Aortic dissection in a young man with Loeys-Dietz syndrome. 6 61
18455604 2008
19
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. 61 6
18070134 2008
20
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. 61 6
17935258 2008
21
Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. 6 61
17652900 2007
22
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. 6 61
17330129 2007
23
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 61 6
18084123 2007
24
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 61 6
16835936 2006
25
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 6 61
16799921 2006
26
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 61 6
16791849 2006
27
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 6 61
16596670 2006
28
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. 61 6
16283890 2005
29
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. 25 61
29270370 2017
30
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. 61 25
28544325 2017
31
Loeys-Dietz syndrome and pregnancy: The first ten years. 25 61
27780078 2017
32
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. 6
28182693 2017
33
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 6
25644172 2015
34
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 25 61
25434006 2014
35
Loeys-Dietz syndrome: a primer for diagnosis and management. 61 25
24577266 2014
36
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 6
24711937 2014
37
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 61 25
24355923 2014
38
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. 61 25
24333532 2014
39
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 25 61
23554019 2013
40
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 6
22772377 2013
41
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 61 25
23023332 2012
42
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 25 61
22772368 2012
43
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. 25 61
21567932 2011
44
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 61 25
21217753 2011
45
The Loeys-Dietz syndrome: an update for the clinician. 61 25
20838339 2010
46
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. 25 61
20813212 2010
47
Musculoskeletal findings of Loeys-Dietz syndrome. 61 25
20686062 2010
48
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 25 61
20358619 2010
49
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 25 61
19996017 2009
50
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 25 61
19639654 2009

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6 (show top 50) (show all 543)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR1 NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) SNV Pathogenic 12521 rs121918711 GRCh37: 9:101908835-101908835
GRCh38: 9:99146553-99146553
2 TGFBR1 NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) SNV Pathogenic 12522 rs121918712 GRCh37: 9:101900165-101900165
GRCh38: 9:99137883-99137883
3 TGFBR1 NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) SNV Pathogenic 12523 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
4 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) SNV Pathogenic 12524 rs111854391 GRCh37: 9:101900288-101900288
GRCh38: 9:99138006-99138006
5 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) SNV Pathogenic 12525 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
6 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic 12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
7 TGFBR1 NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) SNV Pathogenic 12527 rs121918713 GRCh37: 9:101894968-101894968
GRCh38: 9:99132686-99132686
8 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) SNV Pathogenic 12524 rs111854391 GRCh37: 9:101900288-101900288
GRCh38: 9:99138006-99138006
9 TGFBR1 NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) SNV Pathogenic 12520 rs121918710 GRCh37: 9:101904965-101904965
GRCh38: 9:99142683-99142683
10 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) SNV Pathogenic 177704 rs727504292 GRCh37: 3:30713742-30713742
GRCh38: 3:30672250-30672250
11 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) SNV Pathogenic 12519 rs104893819 GRCh37: 3:30729962-30729962
GRCh38: 3:30688470-30688470
12 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic 12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
13 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) SNV Pathogenic 12525 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
14 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) SNV Pathogenic 12511 rs104893815 GRCh37: 3:30732970-30732970
GRCh38: 3:30691478-30691478
15 TGFBR2 NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) SNV Pathogenic 694685 rs1575165272 GRCh37: 3:30729991-30729991
GRCh38: 3:30688499-30688499
16 FBN1 NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) SNV Pathogenic 16457 rs137854478 GRCh37: 15:48780430-48780430
GRCh38: 15:48488233-48488233
17 TGFBR1 NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) SNV Pathogenic 492846 rs1554701911 GRCh37: 9:101907098-101907098
GRCh38: 9:99144816-99144816
18 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic 12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
19 TGFBR1 NM_004612.4(TGFBR1):c.680_682AAG[1] (p.Glu228del) Microsatellite Pathogenic 213896 rs863223829 GRCh37: 9:101900244-101900246
GRCh38: 9:99137962-99137964
20 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) SNV Pathogenic 12512 rs104893810 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
21 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) SNV Pathogenic 12524 rs111854391 GRCh37: 9:101900288-101900288
GRCh38: 9:99138006-99138006
22 TGFBR1 NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) SNV Pathogenic 1028281 GRCh37: 9:101891277-101891277
GRCh38: 9:99128995-99128995
23 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) SNV Pathogenic 12525 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
24 TGFBR1 NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) SNV Pathogenic/Likely pathogenic 213882 rs760079636 GRCh37: 9:101904946-101904946
GRCh38: 9:99142664-99142664
25 TGFB2 NM_003238.5(TGFB2):c.391C>T (p.Arg131Ter) SNV Likely pathogenic 222832 rs869025531 GRCh37: 1:218578555-218578555
GRCh38: 1:218405213-218405213
26 TGFB2 NM_003238.5(TGFB2):c.370dup (p.Arg124fs) Duplication Likely pathogenic 222834 rs869025533 GRCh37: 1:218578533-218578534
GRCh38: 1:218405191-218405192
27 TGFBR2 NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) SNV Likely pathogenic 222839 rs869025537 GRCh37: 3:30713727-30713727
GRCh38: 3:30672235-30672235
28 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) SNV Likely pathogenic 180541 rs727504421 GRCh37: 3:30732957-30732957
GRCh38: 3:30691465-30691465
29 TGFB2 NM_003238.5(TGFB2):c.544C>T (p.Gln182Ter) SNV Likely pathogenic 180536 rs730880221 GRCh37: 1:218607457-218607457
GRCh38: 1:218434115-218434115
30 TGFBR1 NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) SNV Likely pathogenic 180539 rs730880223 GRCh37: 9:101911519-101911519
GRCh38: 9:99149237-99149237
31 TGFBR2 NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) SNV Likely pathogenic 180540 rs730880224 GRCh37: 3:30715619-30715619
GRCh38: 3:30674127-30674127
32 SMAD3 NM_005902.4(SMAD3):c.364G>A (p.Val122Met) SNV Likely pathogenic 155836 rs587782977 GRCh37: 15:67457390-67457390
GRCh38: 15:67165052-67165052
33 TGFBR2 NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) SNV Likely pathogenic 155839 rs587782979 GRCh37: 3:30715724-30715724
GRCh38: 3:30674232-30674232
34 TGFBR2 NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) SNV Likely pathogenic 44657 rs397516840 GRCh37: 3:30729974-30729974
GRCh38: 3:30688482-30688482
35 TGFBR2 NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) SNV Likely pathogenic 165391 rs727503472 GRCh37: 3:30713534-30713534
GRCh38: 3:30672042-30672042
36 TGFBR2 NM_003242.6(TGFBR2):c.1524+1G>A SNV Likely pathogenic 165395 rs727503475 GRCh37: 3:30730004-30730004
GRCh38: 3:30688512-30688512
37 TGFBR2 NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) SNV Likely pathogenic 165399 rs727503477 GRCh37: 3:30732978-30732978
GRCh38: 3:30691486-30691486
38 TGFBR2 NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) SNV Likely pathogenic 36860 rs193922660 GRCh37: 3:30713826-30713826
GRCh38: 3:30672334-30672334
39 TGFBR2 NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) SNV Likely pathogenic 36866 rs193922664 GRCh37: 3:30732927-30732927
GRCh38: 3:30691435-30691435
40 TGFBR2 NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) SNV Likely pathogenic 36868 rs193922665 GRCh37: 3:30691808-30691808
GRCh38: 3:30650316-30650316
41 TGFBR1 NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) SNV Likely pathogenic 992362 GRCh37: 9:101904839-101904839
GRCh38: 9:99142557-99142557
42 COL3A1 NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) SNV Likely pathogenic 101484 rs587779715 GRCh37: 2:189872815-189872815
GRCh38: 2:189008089-189008089
43 TGFBR1 NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) SNV Likely pathogenic 652276 rs1588598651 GRCh37: 9:101911521-101911521
GRCh38: 9:99149239-99149239
44 TGFBR1 NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) SNV Likely pathogenic 1034099 GRCh37: 9:101904841-101904841
GRCh38: 9:99142559-99142559
45 SMAD3 NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) SNV Likely pathogenic 180525 rs730880215 GRCh37: 15:67473791-67473791
GRCh38: 15:67181453-67181453
46 TGFBR1 NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) SNV Likely pathogenic 692013 rs1588585570 GRCh37: 9:101900329-101900329
GRCh38: 9:99138047-99138047
47 TGFBR2 NM_003242.6(TGFBR2):c.383del (p.Lys128fs) Deletion Likely pathogenic 477546 rs79375991 GRCh37: 3:30691872-30691872
GRCh38: 3:30650380-30650380
48 TGFBR2 NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) SNV Likely pathogenic 12509 rs104893813 GRCh37: 3:30713738-30713738
GRCh38: 3:30672246-30672246
49 SMAD3 NM_005902.4(SMAD3):c.206+1G>C SNV Likely pathogenic 667425 rs770098673 GRCh37: 15:67358699-67358699
GRCh38: 15:67066361-67066361
50 TGFBR2 NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) SNV Likely pathogenic 265447 rs886039551 GRCh37: 3:30715678-30715678
GRCh38: 3:30674186-30674186

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
13.72 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2
Show member pathways
13.39 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3
Show member pathways
13.34 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
4
Show member pathways
13.29 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
5
Show member pathways
13.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD3
6
Show member pathways
13.12 TGFBR1 TGFB3 TGFB2 FBN2 FBN1 COL5A2
7
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 ACTA2
8
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
9 12.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10
Show member pathways
12.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
11
Show member pathways
12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
12
Show member pathways
12.81 TGFB3 TGFB2 FBN2 FBN1 COL5A2 COL5A1
13
Show member pathways
12.65 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
14
Show member pathways
12.54 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15 12.42 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 12.41 TGFBR2 TGFBR1 SMAD3 SMAD2
17 12.37 TGFB3 TGFB2 SMAD3 SMAD2
18 12.32 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2 GREM1
19
Show member pathways
12.31 TGFBR2 TGFBR1 SMAD3 SMAD2
20 12.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
21 12.22 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
22 12.21 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
23 12.19 TGFBR2 TGFBR1 SMAD6 SMAD2
24
Show member pathways
12.17 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
25 12.16 TGFBR1 SMAD3 SMAD2 MYLK ACTA2
26 12.11 TGFBR2 TGFBR1 SMAD3 SMAD2
27
Show member pathways
12.04 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
28
Show member pathways
11.93 TGFBR2 TGFBR1 SMAD3 SMAD2
29 11.92 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
30 11.91 TGFBR1 TGFB3 TGFB2 GREM1
31 11.9 TGFB3 TGFB2 COL3A1
32 11.87 TGFB3 TGFB2 ACTA2
33
Show member pathways
11.87 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
34
Show member pathways
11.86 TGFBR2 TGFBR1 SMAD3 SMAD2 GREM1
35
Show member pathways
11.82 TGFB3 TGFB2 FBN2 FBN1
36 11.8 TGFBR2 TGFBR1 SMAD3 SMAD2
37 11.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
38
Show member pathways
11.79 TGFBR2 TGFBR1 SMAD3 SMAD2
39 11.73 TGFBR2 TGFBR1 SMAD3
40 11.73 SMAD6 SMAD3 SMAD2
41 11.67 TGFBR2 TGFBR1 SMAD6 SMAD3 SMAD2
42
Show member pathways
11.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
43 11.6 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
44 11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
45 11.57 TGFBR2 TGFBR1 TGFB2
46 11.5 COL5A2 COL5A1 COL3A1
47 11.41 MYLK MYH11 ACTA2
48 11.31 TGFBR2 TGFBR1 TGFB3 SMAD2
49
Show member pathways
11.28 TGFBR2 TGFBR1 TGFB3
50 11.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 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 extracellular space GO:0005615 10.01 TGFB3 TGFB2 GREM1 FBN1 COL5A2 COL5A1
2 endoplasmic reticulum lumen GO:0005788 9.76 FBN1 COL5A2 COL5A1 COL3A1
3 collagen trimer GO:0005581 9.61 COL5A2 COL5A1 COL3A1
4 extracellular matrix GO:0031012 9.55 FBN2 FBN1 COL5A2 COL5A1 COL3A1
5 microfibril GO:0001527 9.37 FBN2 FBN1
6 SMAD protein complex GO:0071141 9.32 SMAD3 SMAD2
7 collagen type V trimer GO:0005588 9.26 COL5A2 COL5A1
8 collagen-containing extracellular matrix GO:0062023 9.23 TGFB3 TGFB2 GREM1 FBN2 FBN1 COL5A2
9 heteromeric SMAD protein complex GO:0071144 9.13 SMAD6 SMAD3 SMAD2

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

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.17 TGFBR1 TGFB3 SMAD3 SMAD2 GREM1 ACTA2
2 protein phosphorylation GO:0006468 10.14 TGFBR2 TGFBR1 TGFB2 SMAD2 MYLK
3 positive regulation of cell proliferation GO:0008284 10.13 TGFBR2 TGFBR1 TGFB3 TGFB2 GREM1
4 negative regulation of cell proliferation GO:0008285 10.05 TGFBR2 TGFB3 TGFB2 SMAD6 SMAD3 SMAD2
5 extracellular matrix organization GO:0030198 10.02 FBN2 FBN1 COL5A2 COL5A1 COL3A1
6 heart development GO:0007507 10 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1 COL3A1
7 response to hypoxia GO:0001666 9.99 TGFBR2 TGFB3 TGFB2 SMAD3
8 in utero embryonic development GO:0001701 9.97 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
9 anatomical structure morphogenesis GO:0009653 9.93 SMAD6 SMAD3 SMAD2 FBN2 FBN1
10 muscle contraction GO:0006936 9.92 MYLK MYH11 ACTA2
11 response to estrogen GO:0043627 9.88 TGFBR2 TGFB3 SMAD6
12 BMP signaling pathway GO:0030509 9.88 TGFB3 TGFB2 SMAD6 SMAD3 SMAD2
13 skeletal system development GO:0001501 9.88 TGFBR1 TGFB2 SMAD3 FBN1 COL5A2 COL3A1
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.87 TGFBR1 SMAD3 FBN1
15 positive regulation of stress fiber assembly GO:0051496 9.87 TGFBR1 TGFB3 SMAD3
16 negative regulation of osteoblast differentiation GO:0045668 9.86 SMAD6 SMAD3 GREM1
17 embryonic limb morphogenesis GO:0030326 9.86 TGFB2 GREM1 FBN2
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.85 TGFBR1 TGFB3 TGFB2
19 skin development GO:0043588 9.85 COL5A2 COL5A1 COL3A1
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.83 TGFB2 SMAD6 SMAD3
21 ureteric bud development GO:0001657 9.83 SMAD6 SMAD3 SMAD2
22 SMAD protein signal transduction GO:0060395 9.83 TGFB3 TGFB2 SMAD6 SMAD3 SMAD2
23 positive regulation of bone mineralization GO:0030501 9.82 TGFB3 SMAD3 FBN2
24 gastrulation GO:0007369 9.82 TGFBR2 SMAD3 SMAD2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.81 TGFBR2 TGFBR1 SMAD3 SMAD2
26 ventricular septum morphogenesis GO:0060412 9.8 TGFBR2 TGFBR1 TGFB2
27 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.8 TGFBR2 TGFBR1 TGFB3 SMAD6 SMAD3 SMAD2
28 cell-cell junction organization GO:0045216 9.79 TGFB3 TGFB2 SMAD3
29 outflow tract septum morphogenesis GO:0003148 9.78 TGFBR2 TGFB2 SMAD6
30 activin receptor signaling pathway GO:0032924 9.76 TGFBR2 TGFBR1 SMAD3 SMAD2
31 positive regulation of SMAD protein signal transduction GO:0060391 9.74 TGFBR1 TGFB3
32 negative regulation of osteoblast proliferation GO:0033689 9.74 SMAD3 GREM1
33 smooth muscle contraction GO:0006939 9.74 MYLK MYH11
34 pulmonary valve morphogenesis GO:0003184 9.73 TGFB2 SMAD6
35 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.73 SMAD6 GREM1
36 supramolecular fiber organization GO:0097435 9.73 COL5A1 COL3A1
37 cardiac epithelial to mesenchymal transition GO:0060317 9.73 TGFBR1 TGFB2
38 regulation of epithelial to mesenchymal transition GO:0010717 9.73 TGFBR1 GREM1
39 pathway-restricted SMAD protein phosphorylation GO:0060389 9.73 TGFBR2 TGFBR1 TGFB2
40 collagen fibril organization GO:0030199 9.73 TGFBR1 TGFB2 GREM1 COL5A2 COL5A1 COL3A1
41 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 TGFBR1 TGFB2
42 atrioventricular valve morphogenesis GO:0003181 9.72 TGFBR2 TGFB2
43 primary miRNA processing GO:0031053 9.72 SMAD3 SMAD2
44 nodal signaling pathway GO:0038092 9.72 SMAD3 SMAD2
45 pericardium development GO:0060039 9.72 SMAD3 SMAD2
46 response to cholesterol GO:0070723 9.72 TGFBR2 TGFBR1 SMAD2
47 embryonic eye morphogenesis GO:0048048 9.71 FBN2 FBN1
48 embryonic foregut morphogenesis GO:0048617 9.71 SMAD3 SMAD2
49 response to laminar fluid shear stress GO:0034616 9.71 TGFB3 SMAD6
50 salivary gland morphogenesis GO:0007435 9.71 TGFB3 TGFB2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.8 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 9.65 TGFBR2 TGFBR1 TGFB3
4 R-SMAD binding GO:0070412 9.63 SMAD6 SMAD3 SMAD2
5 co-SMAD binding GO:0070410 9.61 SMAD6 SMAD3 SMAD2
6 activin binding GO:0048185 9.56 TGFBR2 TGFBR1
7 transforming growth factor beta receptor binding GO:0005160 9.56 TGFB3 TGFB2 SMAD3 SMAD2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.55 TGFBR2 TGFBR1
9 SMAD binding GO:0046332 9.55 TGFBR2 TGFBR1 SMAD3 SMAD2 COL5A2
10 platelet-derived growth factor binding GO:0048407 9.54 COL5A1 COL3A1
11 type II transforming growth factor beta receptor binding GO:0005114 9.54 TGFBR1 TGFB3 TGFB2
12 extracellular matrix constituent conferring elasticity GO:0030023 9.52 FBN2 FBN1
13 transforming growth factor beta-activated receptor activity GO:0005024 9.51 TGFBR2 TGFBR1
14 type III transforming growth factor beta receptor binding GO:0034714 9.5 TGFBR2 TGFB3 TGFB2
15 I-SMAD binding GO:0070411 9.26 TGFBR1 SMAD6 SMAD3 SMAD2
16 type I transforming growth factor beta receptor binding GO:0034713 8.92 TGFBR2 TGFB3 SMAD6 SMAD2

Sources for Loeys-Dietz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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