LDS
MCID: LYS001
MIFTS: 58

Loeys-Dietz Syndrome (LDS) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Loeys-Dietz Syndrome

Aliases & Descriptions for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 12 23 50 24 25 29 42 14 69
Loeys-Dietz Aortic Aneurysm Syndrome 23 50 24 25 69
Furlong Syndrome 50 69
Aortic Aneurysm Syndrome, Loeys-Dietz Type 50
Lds 25

Characteristics:

GeneReviews:

23
Penetrance Intrafamilial clinical variability has been described and rare examples of non-penetrance in lds have been documented. in one case, this was related to somatic mosaicism; in another, no evidence for mosaicism was observed...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050466
MeSH 42 D055947
NCIt 47 C75006
SNOMED-CT 64 446263001

Summaries for Loeys-Dietz Syndrome

NIH Rare Diseases : 50 loeys-dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. signs and symptoms vary among individuals. this condition is inherited in an autosomal dominant manner with variable clinical expression. this condition is called loeys-dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. individuals without these features are said to have loeys-dietz syndrome type 2. the disease is caused by mutations in the tgfbr1, the tgfbr2,  the smad3 or the tgfb2 genes. it is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. many specialists may be involved for the best managment of the patient. last updated: 10/2/2015

MalaCards based summary : Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome 1 and loeys-dietz syndrome 3, and has symptoms including malar flattening, hypertelorism and pectus excavatum. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include bone, heart and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Genetics Home Reference : 25 Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.

Wikipedia : 71 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. The disorder... more...

GeneReviews: NBK1133

Related Diseases for Loeys-Dietz Syndrome

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

(show top 50) (show all 71)
id Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 1 12.5
2 loeys-dietz syndrome 3 12.5
3 loeys-dietz syndrome 4 12.5
4 loeys-dietz syndrome 5 12.5
5 loeys-dietz syndrome 2 12.5
6 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 12.1
7 smad3-related loeys-dietz syndrome 12.1
8 tgfb2-related loeys-dietz syndrome 12.1
9 tgfb3-related loeys-dietz syndrome 12.1
10 smad4-related loeys-dietz syndrome 12.1
11 tgfbr1-related loeys-dietz syndrome 12.1
12 tgfbr2-related loeys-dietz syndrome 12.1
13 shprintzen-goldberg syndrome 11.2
14 aortic aneurysm, familial thoracic 1 11.2
15 aneurysm 10.7
16 marfan syndrome 10.5
17 cerebritis 10.5
18 cerebral aneurysms 10.3
19 aortic aneurysm 10.3
20 infective dermatitis associated with htlv-1 10.2 TGFBR1 TGFBR2
21 cardiomyopathy 10.2
22 intracranial aneurysm 10.2
23 thoracic aortic aneurysm 10.2
24 cervicitis 10.2
25 thalassemia minor 10.2 TGFB2 TGFB3
26 inflammatory breast carcinoma 10.2 TGFBR1 TGFBR2
27 legionaire disease 10.2 TGFB2 TGFB3
28 renal tubular transport disease 10.1 TGFB2 TGFB3
29 distal arthrogryposis 10.0
30 reversible cerebral vasoconstriction syndrome 10.0
31 sleep apnea 10.0
32 obstructive sleep apnea 10.0
33 scoliosis 10.0
34 myocardial infarction 10.0
35 lens subluxation 10.0
36 heart disease 10.0
37 ehlers-danlos syndrome 10.0
38 retinitis 10.0
39 encephalopathy 10.0
40 kommerell diverticulum 10.0
41 adrenoleukodystrophy 10.0
42 aortic disease 10.0
43 arteriovenous fistula 10.0
44 aortic coarctation 10.0
45 dilated cardiomyopathy 10.0
46 coronary artery aneurysm 10.0
47 contact lens corneal edema 10.0 FBN1 TGFB2 TGFB3
48 neuropathy, hereditary sensory and autonomic, type vi 10.0 ACTA2 FBN1 TGFBR2
49 febrile ulceronecrotic mucha-habermann disease 10.0 FBN1 SMAD3 TGFBR1 TGFBR2
50 adenosquamous breast carcinoma 10.0 FBN1 TGFBR2

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



Diseases related to Loeys-Dietz Syndrome

Symptoms & Phenotypes for Loeys-Dietz Syndrome

Human phenotypes related to Loeys-Dietz Syndrome:

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

UMLS symptoms related to Loeys-Dietz Syndrome:


joint laxity

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

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

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 ACTA2 FBN1 SMAD3 TGFB1 TGFB2 TGFB3
2 cellular MP:0005384 10.19 TGFB3 TGFBR1 TGFBR2 TGIF1 FBN1 GREM1
3 embryo MP:0005380 10.15 FBN1 GREM1 SMAD3 TGFB1 TGFB2 TGFB3
4 growth/size/body region MP:0005378 10.13 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
5 homeostasis/metabolism MP:0005376 10.11 FBN1 GREM1 SMAD3 TGFB1 TGFB2 TGFB3
6 craniofacial MP:0005382 10.07 TGFB3 TGFBR2 TGIF1 FBN1 SMAD3 TGFB1
7 immune system MP:0005387 10.03 TGFBR2 TGIF1 FBN1 SMAD3 TGFB1 TGFB2
8 mortality/aging MP:0010768 10.02 FBN1 GREM1 SMAD3 TGFB1 TGFB2 TGFB3
9 digestive/alimentary MP:0005381 9.99 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
10 nervous system MP:0003631 9.91 FBN1 GREM1 SMAD3 TGFB1 TGFB2 TGFB3
11 limbs/digits/tail MP:0005371 9.88 FBN1 GREM1 SMAD3 TGFB2 TGFB3 TGIF1
12 muscle MP:0005369 9.8 ACTA2 FBN1 TGFB1 TGFB2 TGFBR1 TGFBR2
13 respiratory system MP:0005388 9.76 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1
14 skeleton MP:0005390 9.61 FBN1 GREM1 SMAD3 TGFB1 TGFB2 TGFB3
15 vision/eye MP:0005391 9.17 ACTA2 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR2

Drugs & Therapeutics for Loeys-Dietz Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Loeys-Dietz Syndrome

Cochrane evidence based reviews: loeys-dietz syndrome

Genetic Tests for Loeys-Dietz Syndrome

Genetic tests related to Loeys-Dietz Syndrome:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 29 24 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

39
Bone, Heart, Eye, Brain, Skin, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 168)
id Title Authors Year
1
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
2
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
3
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )
2017
4
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
5
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )
2017
6
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
7
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
8
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
9
Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation. ( 28395736 )
2017
10
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
11
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )
2017
12
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
13
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017
14
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )
2016
15
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. ( 27521346 )
2016
16
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. ( 27521820 )
2016
17
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. ( 27181042 )
2016
18
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. ( 26897206 )
2016
19
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. ( 27100340 )
2016
20
Genetic testing of 10 patients with features of loeys-dietz syndrome. ( 26877057 )
2016
21
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )
2016
22
[Loeys-Dietz syndrome (TGFI^R2A mutation) in a 4-year-old child with thoracic aortic aneurysm]. ( 27017362 )
2016
23
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. ( 27487644 )
2016
24
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. ( 27125181 )
2016
25
Early Diagnosis and Repair of Double Saccular Aneurysms of the Aortic Arch Associated With Aortic Coarctation in an Infant With Loeys-Dietz Syndrome. ( 26655350 )
2016
26
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )
2016
27
Loeys-Dietz syndrome. ( 27625276 )
2016
28
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. ( 26897209 )
2016
29
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. ( 26848186 )
2016
30
Massive hemoptysis in Loeys-Dietz syndrome. ( 26614122 )
2016
31
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. ( 27173863 )
2016
32
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. ( 26555028 )
2015
33
Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3. ( 26409702 )
2015
34
A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections. ( 26301661 )
2015
35
Valve-sparing aortic root surgery in a patient with Loeys-Dietz syndrome. ( 25946772 )
2015
36
Dysregulated TGF-I^ signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. ( 26173585 )
2015
37
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome. ( 26652537 )
2015
38
Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway. ( 26617788 )
2015
39
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. ( 26184463 )
2015
40
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. ( 26096872 )
2015
41
Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome. ( 26290839 )
2015
42
Adult surgical experience with loeys-dietz syndrome. ( 25678502 )
2015
43
Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. ( 26948038 )
2015
44
Late Peripheral Thoracic Aneurysms following Aortic Root Surgery in Patients with Loeys-Dietz Syndrome. ( 26408217 )
2015
45
Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. ( 25689361 )
2015
46
High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. ( 25740032 )
2015
47
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. ( 25564957 )
2015
48
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. ( 26332884 )
2015
49
Loeys-Dietz syndrome. ( 24443023 )
2014
50
Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways? ( 24355917 )
2014

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
2 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
3 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
4 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
5 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
6 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh38 Chromosome 3, 30672250: 30672250
7 TGFBR2 NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn) single nucleotide variant Pathogenic/Likely pathogenic rs727504421 GRCh37 Chromosome 3, 30732957: 30732957

Expression for Loeys-Dietz Syndrome

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

Pathways for Loeys-Dietz Syndrome

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

(show top 50) (show all 73)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 ACTA2 FBN1 SMAD3 TGFB1 TGFB2 TGFB3
2
Show member pathways
13.64 ACTA2 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1
3
Show member pathways
13.47 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
4
Show member pathways
13.45 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
5
Show member pathways
13.38 ACTA2 FBN1 TGFB1 TGFB2 TGFB3 TGFBR1
6
Show member pathways
13.3 ACTA2 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1
7
Show member pathways
13.06 ACTA2 FBN1 TGFB1 TGFB2 TGFB3 TGFBR1
8
Show member pathways
12.95 ACTA2 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
9
Show member pathways
12.93 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.89 ACTA2 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.76 SMAD3 TGFB1 TGFBR1 TGFBR2
12 12.73 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
13 12.72 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
14
Show member pathways
12.69 FBN1 TGFB1 TGFB2 TGFB3
15
Show member pathways
12.65 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
16
Show member pathways
12.6 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
17
Show member pathways
12.54 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
18 12.5 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
19 12.49 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
20
Show member pathways
12.41 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
21 12.37 SMAD3 TGFB1 TGFB2 TGFB3
22
Show member pathways
12.35 SMAD3 TGFB1 TGFBR1 TGFBR2 TGIF1
23
Show member pathways
12.29 SMAD3 TGFB1 TGFB2 TGFBR1 TGFBR2
24 12.28 GREM1 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1
25 12.23 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
26
Show member pathways
12.19 TGFB1 TGFB2 TGFB3
27 12.17 TGFB1 TGFB2 TGFB3
28 12.17 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
29
Show member pathways
12.16 SMAD3 TGFB1 TGFBR1 TGFBR2
30
Show member pathways
12.15 TGFB1 TGFB2 TGFB3
31 12.14 SMAD3 TGFB1 TGFBR1 TGFBR2 TGIF1
32
Show member pathways
12.11 MYEF2 TGFB1 TGFBR1
33 12.1 TGFB1 TGFB2 TGFBR1 TGFBR2
34
Show member pathways
12.1 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
35 12.07 TGFB1 TGFB2 TGFBR2
36
Show member pathways
12.07 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
37 12.05 ACTA2 SMAD3 TGFBR1
38 11.96 ACTA2 TGFB1 TGFB2 TGFB3
39
Show member pathways
11.94 SMAD3 TGFB1 TGFBR1 TGFBR2
40
Show member pathways
11.92 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
41 11.9 GREM1 TGFB1 TGFB2 TGFB3 TGFBR1
42 11.88 TGFB1 TGFB2 TGFB3
43 11.88 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
44 11.85 TGFB1 TGFB2 TGFB3
45
Show member pathways
11.84 GREM1 SMAD3 TGFB1 TGFBR1 TGFBR2
46 11.84 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
47
Show member pathways
11.83 FBN1 TGFB1 TGFB2 TGFB3
48 11.82 SMAD3 TGFB1 TGFBR1 TGFBR2
49
Show member pathways
11.8 SMAD3 TGFB1 TGFBR1 TGFBR2
50 11.75 SMAD3 TGFBR1 TGFBR2

GO Terms for Loeys-Dietz Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 ACTA2 FBN1 GREM1 TGFB1 TGFB2 TGFB3
2 extracellular matrix GO:0031012 9.56 FBN1 TGFB1 TGFB2 TGFB3
3 receptor complex GO:0043235 9.54 SMAD3 TGFBR1 TGFBR2
4 cell surface GO:0009986 9.35 GREM1 TGFB1 TGFB3 TGFBR1 TGFBR2
5 platelet alpha granule lumen GO:0031093 9.33 TGFB1 TGFB2 TGFB3
6 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show top 50) (show all 95)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.99 ACTA2 SMAD3 TGFB1 TGFB2 TGFBR1
2 heart development GO:0007507 9.97 FBN1 TGFB1 TGFB2 TGFBR1 TGFBR2
3 regulation of gene expression GO:0010468 9.95 TGFB1 TGFBR1 TGFBR2
4 skeletal system development GO:0001501 9.95 FBN1 SMAD3 TGFB2 TGFBR1
5 aging GO:0007568 9.94 TGFB1 TGFB3 TGFBR2
6 positive regulation of cell migration GO:0030335 9.94 SMAD3 TGFB1 TGFBR1
7 negative regulation of gene expression GO:0010629 9.94 TGFB1 TGFB2 TGIF1
8 cell cycle arrest GO:0007050 9.93 SMAD3 TGFB1 TGFB2 TGFBR1
9 platelet degranulation GO:0002576 9.92 TGFB1 TGFB2 TGFB3
10 kidney development GO:0001822 9.91 FBN1 TGFB2 TGFBR1
11 BMP signaling pathway GO:0030509 9.91 TGFB1 TGFB2 TGFB3
12 response to hypoxia GO:0001666 9.91 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR2
13 inner ear development GO:0048839 9.89 TGFB1 TGFB2 TGFB3
14 cell growth GO:0016049 9.88 TGFB1 TGFB2 TGFB3
15 signal transduction by protein phosphorylation GO:0023014 9.88 TGFB2 TGFBR1 TGFBR2
16 negative regulation of cell growth GO:0030308 9.88 GREM1 SMAD3 TGFB1 TGFB2
17 palate development GO:0060021 9.88 TGFB2 TGFB3 TGFBR1 TGFBR2
18 cell development GO:0048468 9.86 TGFB1 TGFB2 TGFB3
19 positive regulation of cell division GO:0051781 9.86 TGFB1 TGFB2 TGFB3
20 positive regulation of stress fiber assembly GO:0051496 9.85 SMAD3 TGFB3 TGFBR1
21 extrinsic apoptotic signaling pathway GO:0097191 9.85 SMAD3 TGFB1 TGFB2
22 response to progesterone GO:0032570 9.85 TGFB1 TGFB2 TGFB3
23 SMAD protein signal transduction GO:0060395 9.85 SMAD3 TGFB1 TGFB2 TGFB3
24 epithelial to mesenchymal transition GO:0001837 9.84 TGFB1 TGFB2 TGFBR1
25 cellular response to transforming growth factor beta stimulus GO:0071560 9.84 FBN1 SMAD3 TGFB1 TGFBR1
26 collagen fibril organization GO:0030199 9.83 GREM1 TGFB2 TGFBR1
27 positive regulation of protein secretion GO:0050714 9.83 TGFB1 TGFB2 TGFB3
28 positive regulation of bone mineralization GO:0030501 9.82 SMAD3 TGFB1 TGFB3
29 embryonic cranial skeleton morphogenesis GO:0048701 9.82 SMAD3 TGFBR1 TGFBR2
30 digestive tract development GO:0048565 9.81 TGFB1 TGFB3 TGFBR2
31 ventricular septum morphogenesis GO:0060412 9.78 TGFB2 TGFBR1 TGFBR2
32 odontogenesis GO:0042476 9.77 TGFB2 TGFB3
33 gastrulation GO:0007369 9.77 SMAD3 TGFBR2
34 neuron fate commitment GO:0048663 9.77 TGFB2 TGFBR1
35 endoderm development GO:0007492 9.77 SMAD3 TGFB1
36 mammary gland development GO:0030879 9.77 TGFB1 TGFB3
37 endothelial cell migration GO:0043542 9.77 GREM1 TGFBR1
38 positive regulation of filopodium assembly GO:0051491 9.77 TGFB3 TGFBR1
39 face morphogenesis GO:0060325 9.77 TGFB1 TGFB2 TGFB3
40 negative regulation of mitotic cell cycle GO:0045930 9.76 SMAD3 TGFB1
41 positive regulation of collagen biosynthetic process GO:0032967 9.76 TGFB1 TGFB3
42 outflow tract septum morphogenesis GO:0003148 9.76 TGFB2 TGFBR2
43 positive regulation of protein localization to nucleus GO:1900182 9.76 TGFB1 TGFB2
44 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.76 SMAD3 TGFB1
45 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.76 TGFBR1 TGFBR2
46 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 TGFB1 TGFB2 TGFB3 TGFBR1
47 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.75 SMAD3 TGFB1
48 negative regulation of DNA replication GO:0008156 9.75 TGFB1 TGFB3
49 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.75 GREM1 TGFB1
50 myeloid dendritic cell differentiation GO:0043011 9.75 TGFB1 TGFBR2

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.83 SMAD3 TGFB1 TGFB2 TGFB3
2 cytokine activity GO:0005125 9.73 GREM1 TGFB1 TGFB2 TGFB3
3 growth factor activity GO:0008083 9.69 TGFB1 TGFB2 TGFB3
4 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.58 TGFB2 TGFBR1 TGFBR2
5 SMAD binding GO:0046332 9.54 SMAD3 TGFBR1 TGFBR2
6 transforming growth factor beta binding GO:0050431 9.5 TGFB3 TGFBR1 TGFBR2
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR1 TGFBR2
8 co-SMAD binding GO:0070410 9.48 SMAD3 TGIF1
9 transforming growth factor beta-activated receptor activity GO:0005024 9.46 TGFBR1 TGFBR2
10 transforming growth factor beta receptor binding GO:0005160 9.46 SMAD3 TGFB1 TGFB2 TGFB3
11 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFB1 TGFB3 TGFBR2
12 type III transforming growth factor beta receptor binding GO:0034714 9.13 TGFB1 TGFB2 TGFB3
13 type II transforming growth factor beta receptor binding GO:0005114 8.92 TGFB1 TGFB2 TGFB3 TGFBR1

Sources for Loeys-Dietz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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