MCID: LYS001
MIFTS: 57

Loeys-Dietz Syndrome

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 54 26 38 30 6 45 15 74
Loeys-Dietz Aortic Aneurysm Syndrome 25 54 26 74
Furlong Syndrome 54 74
Aortic Aneurysm Syndrome, Loeys-Dietz Type 54
Syndrome, Loeys-Dietz 41
Lds 26

Characteristics:

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:



Summaries for Loeys-Dietz Syndrome

NIH Rare Diseases : 54 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.

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 4. An important gene associated with Loeys-Dietz Syndrome is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are MAPK signaling pathway and Cytokine-cytokine receptor interaction. Affiliated tissues include bone, skin and brain, and related phenotypes are high palate and pes planus

Disease Ontology : 12 An autosomal dominant disease 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.

Genetics Home Reference : 26 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 : 77 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 156)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 34.6 MYH11 TGFBR2 TMPO
2 loeys-dietz syndrome 4 34.4 SMAD3 TGFB2 TGFB2-AS1 TGFB3 TGFBR1 TGFBR2
3 loeys-dietz syndrome 1 33.9 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
4 loeys-dietz syndrome 3 32.8 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
5 aortic valve disease 1 30.1 ACTA2 FBN1 FBN2 SMAD6 TGFBR2
6 marfan syndrome 30.0 ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFBR1
7 aortic disease 29.8 ACTA2 FBN1 MYH11 TGFB2 TGFBR1 TGFBR2
8 aortic aneurysm, familial thoracic 1 29.6 ACTA2 COL3A1 FBN1 MYH11 SMAD3 TGFBR1
9 aortic aneurysm 28.9 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
10 loeys-dietz syndrome 5 13.0
11 lipoprotein types--ld system 12.1
12 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.5
13 shprintzen-goldberg craniosynostosis syndrome 11.5
14 legionnaire disease 11.2
15 recombination rate quantitative trait locus 1 11.2
16 myoclonic epilepsy of lafora 11.1
17 lactate dehydrogenase deficiency 11.1
18 cerebral aneurysms 10.5
19 learning disability 10.5
20 multiple self-healing squamous epithelioma 10.4
21 scoliosis 10.4
22 intracranial aneurysm 10.4
23 ehlers-danlos syndrome 10.4
24 familial keratoacanthoma 10.4
25 salla disease 10.3
26 multilocular clear cell renal cell carcinoma 10.3 TGFB2 TGFB3
27 tricuspid valve prolapse 10.3 FBN1 SMAD3
28 transient hypogammaglobulinemia 10.3 TGFBR1 TGFBR2
29 atrial standstill 1 10.3
30 larsen syndrome 10.3
31 osteoporosis 10.3
32 spondylolisthesis 10.3
33 arterial tortuosity syndrome 10.3
34 atrophoderma vermiculata 10.3
35 adrenoleukodystrophy 10.3
36 bone mineral density quantitative trait locus 3 10.3
37 myocardial infarction 10.3
38 bone mineral density quantitative trait locus 8 10.3
39 bone mineral density quantitative trait locus 15 10.3
40 aortic arch interruption 10.3
41 arteriovenous fistula 10.3
42 dilated cardiomyopathy 10.3
43 glomerulonephritis 10.3
44 hemophagocytic lymphohistiocytosis 10.3
45 distal arthrogryposis 10.3
46 sleep apnea 10.3
47 stickler syndrome 10.3
48 lens subluxation 10.3
49 heart disease 10.3
50 horner's syndrome 10.3

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:

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

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
2 cellular MP:0005384 10.2 COL3A1 FBN1 FBN2 GREM1 MYH11 SMAD3
3 growth/size/body region MP:0005378 10.18 COL3A1 COL5A2 FBN1 FBN2 GREM1 MYH11
4 homeostasis/metabolism MP:0005376 10.15 COL3A1 FBN1 FBN2 GREM1 MYH11 MYLK
5 digestive/alimentary MP:0005381 10.09 COL3A1 MYH11 MYLK SMAD3 TGFB2 TGFB3
6 mortality/aging MP:0010768 10.07 COL3A1 COL5A2 FBN1 FBN2 GREM1 MYH11
7 limbs/digits/tail MP:0005371 9.87 FBN1 FBN2 GREM1 SMAD3 TGFB2 TGFB3
8 muscle MP:0005369 9.85 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
9 respiratory system MP:0005388 9.65 COL3A1 COL5A2 FBN1 FBN2 GREM1 MYH11
10 skeleton MP:0005390 9.32 COL5A2 FBN1 FBN2 GREM1 MYLK SMAD3

Drugs & Therapeutics for Loeys-Dietz Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Unknown status NCT01599533 Not Applicable
2 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
3 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
4 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
5 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
6 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

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 30

Anatomical Context for Loeys-Dietz Syndrome

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

42
Bone, Skin, Brain, Heart, Eye, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 217)
# Title Authors Year
1
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1. ( 30701076 )
2019
2
Glomerulonephritis triggered by chronical aortic graft infection in a male with Loeys-Dietz syndrome: A case report. ( 31045834 )
2019
3
Loeys-Dietz syndrome: We have come a (Fur)long way. ( 29891244 )
2019
4
Valve-Sparing Aortic Root Replacement in an 8-Month-Old Infant With Loeys-Dietz Syndrome. ( 30315797 )
2019
5
Valve-sparing aortic root and aortic arch replacement in a 5-year-old boy with Loeys-Dietz syndrome. ( 30608517 )
2019
6
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. ( 30614814 )
2019
7
Loeys-Dietz syndrome: Intermediate-term outcomes of medically and surgically managed patients. ( 30669217 )
2019
8
Anesthesia for aortic surgery with circulatory arrest in children with Loeys-Dietz syndrome. ( 30669245 )
2019
9
Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys-Dietz syndrome. ( 30811810 )
2019
10
Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome. ( 30833837 )
2019
11
Heart transplantation in patients with Loeys-Dietz Syndrome - Is It a Novel Cardiomyopathy? ( 31077663 )
2019
12
Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome. ( 29756196 )
2018
13
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )
2018
14
Clip ligation for ruptured intracranial aneurysm in a child with Loeys-Dietz syndrome: case report. ( 29350591 )
2018
15
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. ( 30170566 )
2018
16
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )
2018
17
Ocular findings in Loeys-Dietz syndrome. ( 29146755 )
2018
18
Loeys-Dietz syndrome with aortic wall necrosis secondary to external wrapping. ( 29293973 )
2018
19
Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. ( 29320330 )
2018
20
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. ( 29339704 )
2018
21
Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome. ( 29687491 )
2018
22
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. ( 29706644 )
2018
23
Pseudoaneurysm formation after valve sparing root replacement in children with Loeys-Dietz syndrome. ( 29726037 )
2018
24
Obstetric Management of Loeys-Dietz Syndrome. ( 29742657 )
2018
25
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome. ( 29889773 )
2018
26
Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome. ( 29901510 )
2018
27
Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome. ( 29942909 )
2018
28
Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome. ( 30212788 )
2018
29
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. ( 30219046 )
2018
30
Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome. ( 30360836 )
2018
31
FEVR findings in patients with Loeys-Dietz syndrome type II. ( 30406707 )
2018
32
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. ( 30513140 )
2018
33
Successful heart transplantation in a patient with Loeys-Dietz Syndrome. ( 30513314 )
2018
34
Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm. ( 30675401 )
2018
35
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
36
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
37
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
38
Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )
2017
39
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )
2017
40
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome. ( 27521820 )
2017
41
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
42
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
43
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
44
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
45
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )
2017
46
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
47
Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )
2017
48
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )
2017
49
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
50
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

6 (show top 50) (show all 932)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh37 Chromosome 3, 30713619: 30713619
2 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh38 Chromosome 3, 30672127: 30672127
3 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
4 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
5 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
6 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh38 Chromosome 3, 30688470: 30688470
7 TGFBR1 NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
8 TGFBR1 NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh38 Chromosome 9, 99138006: 99138006
9 TGFBR1 NM_004612.2(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
10 TGFBR1 NM_004612.2(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
11 TGFBR1 NM_004612.2(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
12 TGFBR1 NM_004612.2(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh38 Chromosome 9, 99149252: 99149252
13 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh37 Chromosome 15, 48780430: 48780430
14 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh38 Chromosome 15, 48488233: 48488233
15 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh37 Chromosome 9, 101907165: 101907165
16 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh38 Chromosome 9, 99144883: 99144883
17 TGFBR1 NM_004612.3(TGFBR1): c.344-74del deletion Uncertain significance rs193922675 GRCh37 Chromosome 9, 101894717: 101894717
18 TGFBR1 NM_004612.3(TGFBR1): c.344-74del deletion Uncertain significance rs193922675 GRCh38 Chromosome 9, 99132435: 99132435
19 TGFBR2 NM_003242.5(TGFBR2): c.1119G> A (p.Met373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35719192 GRCh37 Chromosome 3, 30713794: 30713794
20 TGFBR2 NM_003242.5(TGFBR2): c.1119G> A (p.Met373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35719192 GRCh38 Chromosome 3, 30672302: 30672302
21 TGFBR2 NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser) single nucleotide variant Likely pathogenic rs193922660 GRCh37 Chromosome 3, 30713826: 30713826
22 TGFBR2 NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser) single nucleotide variant Likely pathogenic rs193922660 GRCh38 Chromosome 3, 30672334: 30672334
23 TGFBR2 NM_003242.5(TGFBR2): c.1159G> T (p.Val387Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh37 Chromosome 3, 30713834: 30713834
24 TGFBR2 NM_003242.5(TGFBR2): c.1159G> T (p.Val387Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh38 Chromosome 3, 30672342: 30672342
25 TGFBR2 NM_003242.5(TGFBR2): c.1266A> G (p.Ala422=) single nucleotide variant Benign rs2228047 GRCh37 Chromosome 3, 30715608: 30715608
26 TGFBR2 NM_003242.5(TGFBR2): c.1266A> G (p.Ala422=) single nucleotide variant Benign rs2228047 GRCh38 Chromosome 3, 30674116: 30674116
27 TGFBR2 NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg) single nucleotide variant Likely pathogenic rs193922664 GRCh37 Chromosome 3, 30732927: 30732927
28 TGFBR2 NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg) single nucleotide variant Likely pathogenic rs193922664 GRCh38 Chromosome 3, 30691435: 30691435
29 TGFBR2 NM_003242.5(TGFBR2): c.263+7A> G single nucleotide variant Benign rs1155705 GRCh37 Chromosome 3, 30686414: 30686414
30 TGFBR2 NM_003242.5(TGFBR2): c.263+7A> G single nucleotide variant Benign rs1155705 GRCh38 Chromosome 3, 30644922: 30644922
31 TGFBR2 NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser) single nucleotide variant Likely pathogenic rs193922665 GRCh37 Chromosome 3, 30691808: 30691808
32 TGFBR2 NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser) single nucleotide variant Likely pathogenic rs193922665 GRCh38 Chromosome 3, 30650316: 30650316
33 TGFBR2 NM_003242.5(TGFBR2): c.984C> T (p.His328=) single nucleotide variant Benign/Likely benign rs193922666 GRCh37 Chromosome 3, 30713659: 30713659
34 TGFBR2 NM_003242.5(TGFBR2): c.984C> T (p.His328=) single nucleotide variant Benign/Likely benign rs193922666 GRCh38 Chromosome 3, 30672167: 30672167
35 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh37 Chromosome 3, 30713834: 30713834
36 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh38 Chromosome 3, 30672342: 30672342
37 TGFBR2 NM_003242.5(TGFBR2): c.1167C> T (p.Asn389=) single nucleotide variant Benign rs2228048 GRCh37 Chromosome 3, 30713842: 30713842
38 TGFBR2 NM_003242.5(TGFBR2): c.1167C> T (p.Asn389=) single nucleotide variant Benign rs2228048 GRCh38 Chromosome 3, 30672350: 30672350
39 TGFBR2 NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter) single nucleotide variant Likely pathogenic rs397516840 GRCh37 Chromosome 3, 30729974: 30729974
40 TGFBR2 NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter) single nucleotide variant Likely pathogenic rs397516840 GRCh38 Chromosome 3, 30688482: 30688482
41 TGFBR2 NM_003242.5(TGFBR2): c.455-4T> A single nucleotide variant Benign rs11466512 GRCh37 Chromosome 3, 30713126: 30713126
42 TGFBR2 NM_003242.5(TGFBR2): c.455-4T> A single nucleotide variant Benign rs11466512 GRCh38 Chromosome 3, 30671634: 30671634
43 TGFBR2 NM_003242.5(TGFBR2): c.999A> G (p.Leu333=) single nucleotide variant Benign rs2229102 GRCh37 Chromosome 3, 30713674: 30713674
44 TGFBR2 NM_003242.5(TGFBR2): c.999A> G (p.Leu333=) single nucleotide variant Benign rs2229102 GRCh38 Chromosome 3, 30672182: 30672182
45 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh37 Chromosome 9, 101907072: 101907072
46 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh38 Chromosome 9, 99144790: 99144790
47 TGFBR1 NM_004612.2(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh37 Chromosome 9, 101894975: 101894975
48 TGFBR1 NM_004612.2(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh38 Chromosome 9, 99132693: 99132693
49 COL3A1 NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg) single nucleotide variant Likely pathogenic rs587779715 GRCh37 Chromosome 2, 189872815: 189872815
50 COL3A1 NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg) single nucleotide variant Likely pathogenic rs587779715 GRCh38 Chromosome 2, 189008089: 189008089

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:

38
# 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 all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
2
Show member pathways
13.32 ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFB3
3
Show member pathways
13.2 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
4
Show member pathways
13.1 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2
5
Show member pathways
13.02 ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFB2
6
Show member pathways
12.93 ACTA2 MYH11 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
12.88 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.85 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
9 12.82 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.76 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.76 COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
12
Show member pathways
12.61 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13
Show member pathways
12.55 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14
Show member pathways
12.5 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15 12.38 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
16 12.26 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
17
Show member pathways
12.24 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
18
Show member pathways
12.23 SMAD3 TGFB2 TGFBR1 TGFBR2
19 12.21 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.19 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
21 12.14 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22 12.1 ACTA2 MYLK SMAD3 TGFBR1
23
Show member pathways
12.09 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
24
Show member pathways
12.07 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
25
Show member pathways
12.02 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
26 11.96 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
27 11.88 GREM1 TGFB2 TGFB3 TGFBR1
28 11.87 COL3A1 TGFB2 TGFB3
29
Show member pathways
11.85 SMAD3 TGFBR1 TGFBR2
30 11.81 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31
Show member pathways
11.78 FBN1 FBN2 TGFB2 TGFB3
32 11.73 SMAD3 TGFBR1 TGFBR2
33 11.73 SMAD3 TGFBR1 TGFBR2
34 11.73 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
35
Show member pathways
11.71 SMAD3 TGFBR1 TGFBR2
36 11.63 SMAD3 SMAD6 TGFBR1 TGFBR2
37 11.61 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2
38 11.58 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
39 11.56 SMAD3 TGFB3 TGFBR1 TGFBR2
40 11.55 TGFB2 TGFBR1 TGFBR2
41
Show member pathways
11.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
42 11.45 TGFB2 TGFB3 TGFBR1 TGFBR2
43 11.39 ACTA2 MYH11 MYLK
44 11.33 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
45
Show member pathways
11.25 TGFB3 TGFBR1 TGFBR2
46 11.23 TGFB3 TGFBR1 TGFBR2
47 11.12 SMAD3 TGFBR1 TGFBR2
48 11.02 COL3A1 COL5A2 FBN1 FBN2 MYLK TGFB2
49 10.83 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
50 10.42 FBN1 FBN2 SMAD3 TGFBR1 TGFBR2

GO Terms for Loeys-Dietz Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 COL3A1 COL5A2 FBN1 FBN2
2 collagen-containing extracellular matrix GO:0062023 9.1 COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
3 microfibril GO:0001527 8.96 FBN1 FBN2

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.97 COL3A1 COL5A2 FBN1 FBN2
2 in utero embryonic development GO:0001701 9.96 SMAD3 TGFB3 TGFBR1 TGFBR2
3 response to hypoxia GO:0001666 9.94 SMAD3 TGFB2 TGFB3 TGFBR2
4 negative regulation of cell growth GO:0030308 9.9 GREM1 SMAD3 TGFB2
5 kidney development GO:0001822 9.89 FBN1 TGFB2 TGFBR1
6 muscle contraction GO:0006936 9.89 ACTA2 MYH11 MYLK
7 heart development GO:0007507 9.89 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
8 response to estrogen GO:0043627 9.84 SMAD6 TGFB3 TGFBR2
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 FBN1 SMAD3 TGFBR1
10 SMAD protein signal transduction GO:0060395 9.82 SMAD3 TGFB2 TGFB3
11 embryonic limb morphogenesis GO:0030326 9.82 FBN2 GREM1 TGFB2
12 positive regulation of stress fiber assembly GO:0051496 9.81 SMAD3 TGFB3 TGFBR1
13 negative regulation of osteoblast differentiation GO:0045668 9.8 GREM1 SMAD3 SMAD6
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 TGFB2 TGFB3 TGFBR1
15 skeletal system development GO:0001501 9.8 COL3A1 COL5A2 FBN1 SMAD3 TGFB2 TGFBR1
16 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 SMAD3 SMAD6 TGFB3 TGFBR1 TGFBR2
17 ventricular septum morphogenesis GO:0060412 9.76 TGFB2 TGFBR1 TGFBR2
18 embryonic cranial skeleton morphogenesis GO:0048701 9.75 SMAD3 TGFBR1 TGFBR2
19 digestive tract development GO:0048565 9.73 COL3A1 TGFB3 TGFBR2
20 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 TGFBR1 TGFBR2
21 positive regulation of bone mineralization GO:0030501 9.72 FBN2 SMAD3 TGFB3
22 negative regulation of chondrocyte differentiation GO:0032331 9.71 GREM1 TGFBR1
23 smooth muscle contraction GO:0006939 9.71 MYH11 MYLK
24 activin receptor signaling pathway GO:0032924 9.71 SMAD3 TGFBR1
25 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 TGFB2 TGFBR1
26 negative regulation of osteoblast proliferation GO:0033689 9.71 GREM1 SMAD3
27 outflow tract septum morphogenesis GO:0003148 9.71 SMAD6 TGFB2 TGFBR2
28 negative regulation of immune response GO:0050777 9.7 COL3A1 TGFB2
29 pulmonary valve morphogenesis GO:0003184 9.7 SMAD6 TGFB2
30 cardiac epithelial to mesenchymal transition GO:0060317 9.7 TGFB2 TGFBR1
31 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.7 SMAD3 SMAD6 TGFB2
32 regulation of epithelial to mesenchymal transition GO:0010717 9.69 GREM1 TGFBR1
33 atrioventricular valve morphogenesis GO:0003181 9.69 TGFB2 TGFBR2
34 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.69 GREM1 SMAD6
35 positive regulation of SMAD protein signal transduction GO:0060391 9.68 TGFB3 TGFBR1
36 membranous septum morphogenesis GO:0003149 9.68 TGFB2 TGFBR2
37 response to cholesterol GO:0070723 9.68 TGFBR1 TGFBR2
38 salivary gland morphogenesis GO:0007435 9.68 TGFB2 TGFB3
39 embryonic eye morphogenesis GO:0048048 9.67 FBN1 FBN2
40 response to laminar fluid shear stress GO:0034616 9.66 SMAD6 TGFB3
41 cell-cell junction organization GO:0045216 9.65 SMAD3 TGFB2 TGFB3
42 collagen fibril organization GO:0030199 9.65 COL3A1 COL5A2 GREM1 TGFB2 TGFBR1
43 secondary palate development GO:0062009 9.63 TGFB2 TGFB3 TGFBR2
44 aorta smooth muscle tissue morphogenesis GO:0060414 9.62 COL3A1 MYLK
45 negative regulation of macrophage cytokine production GO:0010936 9.61 TGFB2 TGFB3
46 endocardial cushion fusion GO:0003274 9.61 TGFB2 TGFBR2
47 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 TGFB2 TGFBR1 TGFBR2
48 regulation of transforming growth factor beta2 production GO:0032909 9.6 SMAD3 TGFB2
49 sequestering of TGFbeta in extracellular matrix GO:0035583 9.59 FBN1 FBN2
50 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.58 TGFB2 TGFBR1 TGFBR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.62 COL3A1 COL5A2 FBN1 FBN2
2 transforming growth factor beta receptor binding GO:0005160 9.58 SMAD3 TGFB2 TGFB3
3 transforming growth factor beta-activated receptor activity GO:0005024 9.51 TGFBR1 TGFBR2
4 co-SMAD binding GO:0070410 9.49 SMAD3 SMAD6
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.48 TGFBR1 TGFBR2
6 I-SMAD binding GO:0070411 9.46 SMAD6 TGFBR1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN1 FBN2
8 transforming growth factor beta binding GO:0050431 9.43 TGFB3 TGFBR1 TGFBR2
9 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB2 TGFB3
10 type I transforming growth factor beta receptor binding GO:0034713 9.33 SMAD6 TGFB3 TGFBR2
11 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFB2 TGFB3 TGFBR1
12 SMAD binding GO:0046332 9.02 COL3A1 COL5A2 SMAD3 TGFBR1 TGFBR2

Sources for Loeys-Dietz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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