MCID: LYS001
MIFTS: 58

Loeys-Dietz Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Loeys-Dietz Syndrome

MalaCards integrated aliases for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 12 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:



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 4 and loeys-dietz syndrome 1, and has symptoms including scoliosis, micrognathia and hypertelorism. 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 Integrin Pathway. Affiliated tissues include bone, heart and brain, 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 : 72 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

GeneReviews: NBK1133

Related Diseases for Loeys-Dietz Syndrome

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

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 4 34.5 TGFB2 TGFB3
2 loeys-dietz syndrome 1 12.5
3 loeys-dietz syndrome 3 12.5
4 loeys-dietz syndrome 2 12.5
5 loeys-dietz syndrome 5 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 aneurysm 10.7
15 transient hypogammaglobulinemia 10.6 TGFBR1 TGFBR2
16 type 1 papillary adenoma of the kidney 10.6 TGFBR1 TGFBR2
17 marfan syndrome 10.5
18 tgfbr2-related thoracic aortic aneurysms and aortic dissections 10.5 TGFB2 TGFB3
19 hypomagnesemia 1, intestinal 10.5 TGFBR1 TGFBR2
20 cerebritis 10.5
21 elizabethkingia anophelis infection 10.5 TGFBR1 TGFBR2
22 clear cell adenocarcinoma 10.4 TGFB2 TGFB3
23 eye disease 10.4 FBN1 TGFBR2
24 acromicric dysplasia 10.4 FBN1 TGFB2
25 strawberry gallbladder 10.3 TGFB2 TGFB3
26 aortic aneurysm 10.3
27 cerebral aneurysms 10.3
28 west syndrome 10.3 TGFB2 TGFBR2
29 congenital methemoglobinemia 10.3 SMAD3 TGFB3
30 familial or sporadic hemiplegic migraine 10.2 COL3A1 FBN1
31 actinic prurigo 10.2 COL3A1 FBN1
32 keratopathy 10.2 SMAD3 TGFB3
33 cardiomyopathy 10.2
34 intracranial aneurysm 10.2
35 cervicitis 10.2
36 malignant acth producing neoplasm of pituitary gland 10.2 TGFBR1 TGFBR2
37 twin-to-twin transfusion syndrome 10.2 SMAD3 TGFB2 TGFB3
38 acromesomelic dysplasia 10.1 SMAD3 TGFB3
39 idiopathic corneal edema 10.1 FBN1 TGFB2 TGFB3
40 thoracic spinal canal and spinal cord meningioma 10.1 FBN1 TGFB2 TGFB3
41 retinitis 10.0
42 encephalopathy 10.0
43 kommerell diverticulum 10.0
44 aortic disease 10.0
45 adrenoleukodystrophy 10.0
46 aortic coarctation 10.0
47 arteriovenous fistula 10.0
48 coronary artery aneurysm 10.0
49 dilated cardiomyopathy 10.0
50 reversible cerebral vasoconstriction syndrome 10.0

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

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 MYEF2 TGFB2 TGIF1 TGFBR1 TGFBR2
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 MYEF2 TGFBR2
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 TGFBR2 TGFB2
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 COL3A1 FBN1 SMAD3 TGFB2 TGFB3
2 cellular MP:0005384 10.19 COL3A1 FBN1 GREM1 SMAD3 TGFB2 TGFB3
3 growth/size/body region MP:0005378 10.13 COL3A1 FBN1 TGFBR1 TGFBR2 TGIF1 GREM1
4 homeostasis/metabolism MP:0005376 10.11 COL3A1 FBN1 GREM1 SMAD3 TGFB2 TGFB3
5 embryo MP:0005380 10.1 FBN1 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
6 immune system MP:0005387 10.03 TGFBR1 TGFBR2 TGIF1 COL3A1 FBN1 SMAD3
7 mortality/aging MP:0010768 10.02 COL3A1 FBN1 GREM1 SMAD3 TGFB2 TGFB3
8 craniofacial MP:0005382 10 FBN1 SMAD3 TGFB2 TGFB3 TGFBR2 TGIF1
9 digestive/alimentary MP:0005381 9.99 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10 limbs/digits/tail MP:0005371 9.88 FBN1 GREM1 SMAD3 TGFB2 TGFB3 TGIF1
11 nervous system MP:0003631 9.86 FBN1 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
12 muscle MP:0005369 9.8 ACTA2 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
13 respiratory system MP:0005388 9.76 TGFB3 TGFBR1 TGFBR2 TGIF1 COL3A1 FBN1
14 skeleton MP:0005390 9.56 TGIF1 FBN1 GREM1 SMAD3 TGFB2 TGFB3
15 vision/eye MP:0005391 9.1 TGFB3 TGFBR2 TGIF1 ACTA2 SMAD3 TGFB2

Drugs & Therapeutics for Loeys-Dietz Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
2 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
3 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
4 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533
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, Brain, Eye, Skin, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 175)
id Title Authors Year
1
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )
2017
2
Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome. ( 28606209 )
2017
3
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
4
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-I^ signaling. ( 28679693 )
2017
5
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )
2017
6
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
7
Perioperative Anesthetic Management for Cesarean Delivery in a Parturient With Type IV Loeys-Dietz Syndrome: A Case Report. ( 28604473 )
2017
8
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
9
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
10
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
11
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
12
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
13
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
14
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
15
Stepwise Total Aortic Repairs With Fenestrated Endografts in a Patient With Loeys-Dietz Syndrome. ( 28633258 )
2017
16
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017
17
4.7a88Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. ( 28544325 )
2017
18
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. ( 28541520 )
2017
19
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )
2017
20
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )
2017
21
Genetic testing of 10 patients with features of loeys-dietz syndrome. ( 26877057 )
2016
22
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. ( 26848186 )
2016
23
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. ( 27100340 )
2016
24
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome. ( 26897206 )
2016
25
[Loeys-Dietz syndrome (TGFI^R2A mutation) in a 4-year-old child with thoracic aortic aneurysm]. ( 27017362 )
2016
26
Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. ( 27521346 )
2016
27
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )
2016
28
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. ( 27181042 )
2016
29
Loeys-Dietz syndrome. ( 27625276 )
2016
30
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
31
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. ( 27125181 )
2016
32
Massive hemoptysis in Loeys-Dietz syndrome. ( 26614122 )
2016
33
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )
2016
34
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )
2016
35
Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. ( 27173863 )
2016
36
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. ( 27521820 )
2016
37
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. ( 26897209 )
2016
38
LOEYS-DIETZ SYNDROME: PERIOPERATIVE ANESTHESIA CONSIDERATIONS. ( 27487644 )
2016
39
Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. ( 26948038 )
2015
40
Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway. ( 26617788 )
2015
41
Dysregulated TGF-I^ signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. ( 26173585 )
2015
42
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. ( 26555028 )
2015
43
Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome. ( 26290839 )
2015
44
Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management. ( 26332884 )
2015
45
Aortic Surgical Emergencies in Young Children With Loeys-Dietz Syndrome. ( 26652537 )
2015
46
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. ( 26184463 )
2015
47
Adult surgical experience with loeys-dietz syndrome. ( 25678502 )
2015
48
High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. ( 25740032 )
2015
49
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. ( 25564957 )
2015
50
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome. ( 26096872 )
2015

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/Likely 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 GRCh37 Chromosome 3, 30713742: 30713742
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 51)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 ACTA2 COL3A1 FBN1 SMAD3 TGFB2 TGFB3
2
Show member pathways
13.31 ACTA2 COL3A1 FBN1 TGFB2 TGFB3 TGFBR1
3
Show member pathways
13.21 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
4
Show member pathways
12.98 ACTA2 COL3A1 FBN1 TGFB2 TGFB3 TGFBR1
5
Show member pathways
12.85 ACTA2 TGFB2 TGFB3 TGFBR1 TGFBR2
6
Show member pathways
12.81 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
12.79 ACTA2 TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.66 COL3A1 FBN1 TGFB2 TGFB3
9 12.62 TGFB2 TGFB3 TGFBR1 TGFBR2
10 12.62 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12
Show member pathways
12.45 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13
Show member pathways
12.42 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14 12.37 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15 12.25 SMAD3 TGFB2 TGFB3
16
Show member pathways
12.25 SMAD3 TGFBR1 TGFBR2 TGIF1
17 12.2 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
18
Show member pathways
12.18 SMAD3 TGFB2 TGFBR1 TGFBR2
19 12.14 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.08 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
21
Show member pathways
12.04 SMAD3 TGFBR1 TGFBR2
22 12.04 SMAD3 TGFBR1 TGFBR2 TGIF1
23 12.01 ACTA2 SMAD3 TGFBR1
24
Show member pathways
12.01 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
25 11.97 TGFB2 TGFBR1 TGFBR2
26 11.84 COL3A1 TGFB2 TGFB3
27 11.84 ACTA2 TGFB2 TGFB3
28 11.83 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
29
Show member pathways
11.82 SMAD3 TGFBR1 TGFBR2
30 11.8 GREM1 TGFB2 TGFB3 TGFBR1
31
Show member pathways
11.77 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
32 11.73 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
33
Show member pathways
11.71 FBN1 TGFB2 TGFB3
34 11.7 SMAD3 TGFBR1 TGFBR2
35 11.69 SMAD3 TGFBR1 TGFBR2
36
Show member pathways
11.68 SMAD3 TGFBR1 TGFBR2
37 11.6 SMAD3 TGFBR1 TGFBR2 TGIF1
38
Show member pathways
11.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
39 11.52 SMAD3 TGFB3 TGFBR1 TGFBR2
40 11.51 TGFB2 TGFBR1 TGFBR2
41 11.36 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1
42
Show member pathways
11.31 TGFB2 TGFB3
43 11.25 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
44 11.24 TGFB2 TGFBR1
45
Show member pathways
11.21 TGFB3 TGFBR1 TGFBR2
46 11.18 TGFB3 TGFBR1 TGFBR2
47 11.1 FBN1 SMAD3 TGFBR1 TGFBR2
48 11.08 SMAD3 TGFBR1 TGFBR2
49 11.03 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
50 10.94 TGFB2 TGFB3 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 9.73 ACTA2 COL3A1 FBN1 GREM1 TGFB2 TGFB3
2 cell surface GO:0009986 9.62 GREM1 TGFB3 TGFBR1 TGFBR2
3 receptor complex GO:0043235 9.33 SMAD3 TGFBR1 TGFBR2
4 extracellular matrix GO:0031012 9.26 COL3A1 FBN1 TGFB2 TGFB3
5 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 56)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 SMAD3 TGFB2 TGFB3 TGFBR2
2 in utero embryonic development GO:0001701 9.91 SMAD3 TGFB3 TGFBR1 TGFBR2
3 angiogenesis GO:0001525 9.9 GREM1 TGFB2 TGFBR1
4 aging GO:0007568 9.87 COL3A1 TGFB3 TGFBR2
5 cell cycle arrest GO:0007050 9.87 SMAD3 TGFB2 TGFBR1
6 response to hypoxia GO:0001666 9.86 SMAD3 TGFB2 TGFB3 TGFBR2
7 negative regulation of cell growth GO:0030308 9.85 GREM1 SMAD3 TGFB2
8 heart development GO:0007507 9.85 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
9 kidney development GO:0001822 9.83 FBN1 TGFB2 TGFBR1
10 SMAD protein signal transduction GO:0060395 9.8 SMAD3 TGFB2 TGFB3
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 FBN1 SMAD3 TGFBR1
12 signal transduction by protein phosphorylation GO:0023014 9.79 TGFB2 TGFBR1 TGFBR2
13 palate development GO:0060021 9.78 TGFB2 TGFB3 TGFBR1 TGFBR2
14 positive regulation of stress fiber assembly GO:0051496 9.77 SMAD3 TGFB3 TGFBR1
15 skeletal system development GO:0001501 9.77 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 TGFB2 TGFB3 TGFBR1
17 epithelial to mesenchymal transition GO:0001837 9.72 TGFB2 TGFBR1
18 positive regulation of epithelial cell migration GO:0010634 9.72 TGFB2 TGFBR2
19 embryonic cranial skeleton morphogenesis GO:0048701 9.72 SMAD3 TGFBR1 TGFBR2
20 lens development in camera-type eye GO:0002088 9.71 TGFBR1 TGFBR2
21 gastrulation GO:0007369 9.71 SMAD3 TGFBR2
22 positive regulation of bone mineralization GO:0030501 9.71 SMAD3 TGFB3
23 endothelial cell migration GO:0043542 9.71 GREM1 TGFBR1
24 digestive tract development GO:0048565 9.71 COL3A1 TGFB3 TGFBR2
25 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.71 SMAD3 TGFB3 TGFBR1 TGFBR2
26 odontogenesis GO:0042476 9.7 TGFB2 TGFB3
27 positive regulation of filopodium assembly GO:0051491 9.7 TGFB3 TGFBR1
28 ventricular septum morphogenesis GO:0060412 9.7 TGFB2 TGFBR1 TGFBR2
29 outflow tract septum morphogenesis GO:0003148 9.69 TGFB2 TGFBR2
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 TGFBR1 TGFBR2
31 negative regulation of chondrocyte differentiation GO:0032331 9.68 GREM1 TGFBR1
32 activin receptor signaling pathway GO:0032924 9.68 SMAD3 TGFBR1
33 ventricular trabecula myocardium morphogenesis GO:0003222 9.68 TGFB2 TGFBR1
34 negative regulation of immune response GO:0050777 9.67 COL3A1 TGFB2
35 regulation of epithelial to mesenchymal transition GO:0010717 9.67 GREM1 TGFBR1
36 cell-cell junction organization GO:0045216 9.67 SMAD3 TGFB2 TGFB3
37 cardiac epithelial to mesenchymal transition GO:0060317 9.66 TGFB2 TGFBR1
38 positive regulation of SMAD protein import into nucleus GO:0060391 9.65 TGFB3 TGFBR1
39 atrioventricular valve morphogenesis GO:0003181 9.65 TGFB2 TGFBR2
40 salivary gland morphogenesis GO:0007435 9.65 TGFB2 TGFB3
41 response to cholesterol GO:0070723 9.64 TGFBR1 TGFBR2
42 negative regulation of osteoblast proliferation GO:0033689 9.64 GREM1 SMAD3
43 membranous septum morphogenesis GO:0003149 9.63 TGFB2 TGFBR2
44 negative regulation of macrophage cytokine production GO:0010936 9.62 TGFB2 TGFB3
45 collagen fibril organization GO:0030199 9.62 COL3A1 GREM1 TGFB2 TGFBR1
46 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 TGFB2 TGFBR1 TGFBR2
47 regulation of transforming growth factor beta2 production GO:0032909 9.6 SMAD3 TGFB2
48 positive regulation of occluding junction disassembly GO:1905075 9.58 TGFB3 TGFBR1
49 endocardial cushion fusion GO:0003274 9.57 TGFB2 TGFBR2
50 positive regulation of epithelial to mesenchymal transition GO:0010718 9.55 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 GREM1 TGFB2 TGFB3
2 transforming growth factor beta receptor binding GO:0005160 9.54 SMAD3 TGFB2 TGFB3
3 co-SMAD binding GO:0070410 9.48 SMAD3 TGIF1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR1 TGFBR2
5 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFB3 TGFBR2
6 transforming growth factor beta binding GO:0050431 9.43 TGFB3 TGFBR1 TGFBR2
7 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR1 TGFBR2
8 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.33 TGFB2 TGFBR1 TGFBR2
9 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB2 TGFB3
10 SMAD binding GO:0046332 9.26 COL3A1 SMAD3 TGFBR1 TGFBR2
11 type II transforming growth factor beta receptor binding GO:0005114 8.8 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
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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48 NDF-RT
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52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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