LDS
MCID: LYS001
MIFTS: 62

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 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 skin, bone and heart, 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 137)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 34.4 MYH11 TGFBR2 TMPO
2 loeys-dietz syndrome 4 34.3 SMAD3 TGFB2 TGFB2-AS1 TGFB3 TGFBR1 TGFBR2
3 loeys-dietz syndrome 1 33.7 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
4 loeys-dietz syndrome 3 32.8 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
5 marfan syndrome 30.0 ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFBR1
6 aortic disease 29.9 ACTA2 FBN1 MYH11 TGFB2 TGFBR1 TGFBR2
7 aortic aneurysm, familial thoracic 1 29.6 ACTA2 COL3A1 FBN1 MYH11 SMAD3 TGFBR1
8 aortic aneurysm 28.9 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
9 loeys-dietz syndrome 5 12.9
10 lipoprotein types--ld system 12.1
11 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.4
12 shprintzen-goldberg craniosynostosis syndrome 11.4
13 legionnaire disease 11.2
14 recombination rate quantitative trait locus 1 11.2
15 myoclonic epilepsy of lafora 11.1
16 lactate dehydrogenase deficiency 11.0
17 cerebral aneurysms 10.5
18 learning disability 10.5
19 multiple self-healing squamous epithelioma 10.4
20 scoliosis 10.4
21 intracranial aneurysm 10.4
22 ehlers-danlos syndrome 10.4
23 familial keratoacanthoma 10.4
24 salla disease 10.3
25 multilocular clear cell renal cell carcinoma 10.3 TGFB2 TGFB3
26 tricuspid valve prolapse 10.3 FBN1 SMAD3
27 adrenoleukodystrophy 10.3
28 myocardial infarction 10.3
29 arteriovenous fistula 10.3
30 dilated cardiomyopathy 10.3
31 hemophagocytic lymphohistiocytosis 10.3
32 bone mineral density quantitative trait locus 3 10.3
33 atrophoderma vermiculata 10.3
34 spondylolisthesis 10.3
35 osteoporosis 10.3
36 larsen syndrome 10.3
37 distal arthrogryposis 10.3
38 sleep apnea 10.3
39 stickler syndrome 10.3
40 lens subluxation 10.3
41 heart disease 10.3
42 aortic coarctation 10.3
43 coronary artery aneurysm 10.3
44 reversible cerebral vasoconstriction syndrome 10.3
45 encephalopathy 10.3
46 cervical aortic arch 10.3
47 kommerell diverticulum 10.3
48 transient hypogammaglobulinemia 10.3 TGFBR1 TGFBR2
49 peyronie's disease 10.3 SMAD3 TGFB2 TGFB3
50 cutis laxa, autosomal recessive, type ic 10.2 TGFBR1 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:

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 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
4 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
5 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
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
Skin, Bone, Heart, Brain, Eye, Testes, Spinal Cord

Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 212)
# 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
Valve-sparing aortic root and aortic arch replacement in a 5-year-old boy with Loeys-Dietz syndrome. ( 30608517 )
2019
3
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. ( 30614814 )
2019
4
Loeys-Dietz syndrome: Intermediate-term outcomes of medically and surgically managed patients. ( 30669217 )
2019
5
Anesthesia for aortic surgery with circulatory arrest in children with Loeys-Dietz syndrome. ( 30669245 )
2019
6
Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys Dietz Syndrome. ( 30811810 )
2019
7
Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome. ( 30833837 )
2019
8
Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome. ( 29756196 )
2018
9
Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome. ( 29687491 )
2018
10
Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome. ( 29942909 )
2018
11
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. ( 29706644 )
2018
12
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome. ( 29889773 )
2018
13
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )
2018
14
Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. ( 29320330 )
2018
15
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. ( 29339704 )
2018
16
Loeys-Dietz syndrome: We have come a (Fur)long way. ( 29891244 )
2018
17
Clip ligation for ruptured intracranial aneurysm in a child with Loeys-Dietz syndrome: case report. ( 29350591 )
2018
18
Obstetric Management of Loeys-Dietz Syndrome. ( 29742657 )
2018
19
Pseudoaneurysm formation after valve sparing root replacement in children with Loeys-Dietz syndrome. ( 29726037 )
2018
20
Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome. ( 29901510 )
2018
21
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. ( 30170566 )
2018
22
Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome. ( 30212788 )
2018
23
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. ( 30219046 )
2018
24
Valve sparing aortic root replacement in an 8-month-old infant with Loeys-Dietz syndrome. ( 30315797 )
2018
25
Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome. ( 30360836 )
2018
26
FEVR findings in patients with Loeys-Dietz syndrome type II. ( 30406707 )
2018
27
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. ( 30513140 )
2018
28
Successful heart transplantation in a patient with Loeys-Dietz Syndrome. ( 30513314 )
2018
29
Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm. ( 30675401 )
2018
30
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )
2017
31
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )
2017
32
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )
2017
33
Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome. ( 28606209 )
2017
34
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )
2017
35
Perioperative Anesthetic Management for Cesarean Delivery in a Parturient With Type IV Loeys-Dietz Syndrome: A Case Report. ( 28604473 )
2017
36
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
2017
37
Teaching Neuro<i>Images</i>: Rare cause of Horner syndrome in Loeys-Dietz syndrome. ( 28972113 )
2017
38
Ocular findings in Loeys-Dietz syndrome. ( 29146755 )
2017
39
4.7a88Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. ( 28544325 )
2017
40
Loeys-Dietz syndrome with aortic wall necrosis secondary to external wrapping. ( 29293973 )
2017
41
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )
2017
42
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-I^ signaling. ( 28679693 )
2017
43
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
44
Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )
2017
45
Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )
2017
46
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )
2017
47
Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )
2017
48
Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )
2017
49
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
50
Stepwise Total Aortic Repairs With Fenestrated Endografts in a Patient With Loeys-Dietz Syndrome. ( 28633258 )
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 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh37 Chromosome 2, 189875018: 189875018
2 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh38 Chromosome 2, 189010292: 189010292
3 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
4 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552
5 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh37 Chromosome 16, 15872688: 15872688
6 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh38 Chromosome 16, 15778831: 15778831
7 TGFBR2 NM_003242.5(TGFBR2): c.1546_1557del (p.Thr516_Glu519del) deletion Likely pathogenic rs876658120 GRCh38 Chromosome 3, 30691441: 30691452
8 TGFBR2 NM_003242.5(TGFBR2): c.1546_1557del (p.Thr516_Glu519del) deletion Likely pathogenic rs876658120 GRCh37 Chromosome 3, 30732933: 30732944
9 TGFBR2 NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727503476 GRCh37 Chromosome 3, 30732967: 30732967
10 TGFBR2 NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727503476 GRCh38 Chromosome 3, 30691475: 30691475
11 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh37 Chromosome 3, 30713742: 30713742
12 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh38 Chromosome 3, 30672250: 30672250
13 TGFBR2 NM_003242.5(TGFBR2): c.1524+1G> A single nucleotide variant Likely pathogenic rs727503475 GRCh37 Chromosome 3, 30730004: 30730004
14 TGFBR2 NM_003242.5(TGFBR2): c.1524+1G> A single nucleotide variant Likely pathogenic rs727503475 GRCh38 Chromosome 3, 30688512: 30688512
15 TGFBR1 NM_001306210.1(TGFBR1): c.70_78delGCGGCGGCG deletion Conflicting interpretations of pathogenicity rs11466445 GRCh37 Chromosome 9, 101867557: 101867565
16 TGFBR1 NM_001306210.1(TGFBR1): c.70_78delGCGGCGGCG deletion Conflicting interpretations of pathogenicity rs11466445 GRCh38 Chromosome 9, 99105275: 99105283
17 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh38 Chromosome 9, 99132580: 99132580
18 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh37 Chromosome 9, 101894862: 101894862
19 TGFB2 NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter) single nucleotide variant Likely pathogenic rs730880221 GRCh37 Chromosome 1, 218607457: 218607457
20 TGFB2 NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter) single nucleotide variant Likely pathogenic rs730880221 GRCh38 Chromosome 1, 218434115: 218434115
21 COL5A2 NM_000393.4(COL5A2): c.2795T> C (p.Leu932Pro) single nucleotide variant Uncertain significance rs730880067 GRCh37 Chromosome 2, 189916182: 189916182
22 COL5A2 NM_000393.4(COL5A2): c.2795T> C (p.Leu932Pro) single nucleotide variant Uncertain significance rs730880067 GRCh38 Chromosome 2, 189051456: 189051456
23 MYLK NM_053027.3(MYLK): c.3982G> A (p.Val1328Met) single nucleotide variant Uncertain significance rs730880164 GRCh37 Chromosome 3, 123382955: 123382955
24 MYLK NM_053027.3(MYLK): c.3982G> A (p.Val1328Met) single nucleotide variant Uncertain significance rs730880164 GRCh38 Chromosome 3, 123664108: 123664108
25 TGFBR2 NM_003242.5(TGFBR2): c.1277C> T (p.Ala426Val) single nucleotide variant Likely pathogenic rs730880224 GRCh37 Chromosome 3, 30715619: 30715619
26 TGFBR2 NM_003242.5(TGFBR2): c.1277C> T (p.Ala426Val) single nucleotide variant Likely pathogenic rs730880224 GRCh38 Chromosome 3, 30674127: 30674127
27 TGFBR2 NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn) single nucleotide variant Pathogenic rs727504421 GRCh37 Chromosome 3, 30732957: 30732957
28 TGFBR2 NM_003242.5(TGFBR2): c.1570G> A (p.Asp524Asn) single nucleotide variant Pathogenic rs727504421 GRCh38 Chromosome 3, 30691465: 30691465
29 TGFBR1 NM_004612.3(TGFBR1): c.1444A> G (p.Arg482Gly) single nucleotide variant Likely pathogenic rs730880223 GRCh37 Chromosome 9, 101911519: 101911519
30 TGFBR1 NM_004612.3(TGFBR1): c.1444A> G (p.Arg482Gly) single nucleotide variant Likely pathogenic rs730880223 GRCh38 Chromosome 9, 99149237: 99149237
31 SMAD3 NM_005902.3(SMAD3): c.169A> C (p.Thr57Pro) single nucleotide variant Uncertain significance rs730880213 GRCh38 Chromosome 15, 67066323: 67066323
32 SMAD3 NM_005902.3(SMAD3): c.169A> C (p.Thr57Pro) single nucleotide variant Uncertain significance rs730880213 GRCh37 Chromosome 15, 67358661: 67358661
33 SMAD3 NM_005902.3(SMAD3): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730880214 GRCh38 Chromosome 15, 67181442: 67181442
34 SMAD3 NM_005902.3(SMAD3): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730880214 GRCh37 Chromosome 15, 67473780: 67473780
35 SMAD3 NM_005902.3(SMAD3): c.871G> A (p.Gly291Arg) single nucleotide variant Likely pathogenic rs730880215 GRCh38 Chromosome 15, 67181453: 67181453
36 SMAD3 NM_005902.3(SMAD3): c.871G> A (p.Gly291Arg) single nucleotide variant Likely pathogenic rs730880215 GRCh37 Chromosome 15, 67473791: 67473791
37 SMAD3 NM_005902.3(SMAD3): c.885G> A (p.Arg295=) single nucleotide variant Conflicting interpretations of pathogenicity rs139616052 GRCh37 Chromosome 15, 67477078: 67477078
38 SMAD3 NM_005902.3(SMAD3): c.885G> A (p.Arg295=) single nucleotide variant Conflicting interpretations of pathogenicity rs139616052 GRCh38 Chromosome 15, 67184740: 67184740
39 FBN1 NM_000138.4(FBN1): c.7048A> G (p.Ile2350Val) single nucleotide variant Uncertain significance rs794728263 GRCh38 Chromosome 15, 48427723: 48427723
40 FBN1 NM_000138.4(FBN1): c.7048A> G (p.Ile2350Val) single nucleotide variant Uncertain significance rs794728263 GRCh37 Chromosome 15, 48719920: 48719920
41 TGFB2 NM_001135599.3(TGFB2): c.-5A> T single nucleotide variant Benign/Likely benign rs200702935 GRCh37 Chromosome 1, 218520039: 218520039
42 TGFB2 NM_001135599.3(TGFB2): c.-5A> T single nucleotide variant Benign/Likely benign rs200702935 GRCh38 Chromosome 1, 218346697: 218346697
43 TGFB2 NM_001135599.3(TGFB2): c.114G> A (p.Glu38=) single nucleotide variant Benign/Likely benign rs149215818 GRCh38 Chromosome 1, 218346815: 218346815
44 TGFB2 NM_001135599.3(TGFB2): c.114G> A (p.Glu38=) single nucleotide variant Benign/Likely benign rs149215818 GRCh37 Chromosome 1, 218520157: 218520157
45 TGFB2 NM_001135599.3(TGFB2): c.272G> A (p.Arg91His) single nucleotide variant Conflicting interpretations of pathogenicity rs10482721 GRCh37 Chromosome 1, 218520315: 218520315
46 TGFB2 NM_001135599.3(TGFB2): c.272G> A (p.Arg91His) single nucleotide variant Conflicting interpretations of pathogenicity rs10482721 GRCh38 Chromosome 1, 218346973: 218346973
47 TGFB2 NM_001135599.3(TGFB2): c.440C> T (p.Pro147Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149533093 GRCh37 Chromosome 1, 218578520: 218578520
48 TGFB2 NM_001135599.3(TGFB2): c.440C> T (p.Pro147Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149533093 GRCh38 Chromosome 1, 218405178: 218405178
49 TGFB2 NM_001135599.3(TGFB2): c.441G> A (p.Pro147=) single nucleotide variant Benign/Likely benign rs138514914 GRCh37 Chromosome 1, 218578521: 218578521
50 TGFB2 NM_001135599.3(TGFB2): c.441G> A (p.Pro147=) single nucleotide variant Benign/Likely benign rs138514914 GRCh38 Chromosome 1, 218405179: 218405179

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 49)
# 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
13.19 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 COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
11
Show member pathways
12.75 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12
Show member pathways
12.61 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13
Show member pathways
12.5 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14 12.38 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15 12.26 GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
16
Show member pathways
12.24 ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
17
Show member pathways
12.23 SMAD3 TGFB2 TGFBR1 TGFBR2
18 12.21 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19 12.19 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.14 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
21 12.1 ACTA2 MYLK SMAD3 TGFBR1
22
Show member pathways
12.09 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
23
Show member pathways
12.07 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
24
Show member pathways
12.02 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
25 11.96 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
26 11.88 GREM1 TGFB2 TGFB3 TGFBR1
27 11.86 COL3A1 TGFB2 TGFB3
28
Show member pathways
11.84 SMAD3 TGFBR1 TGFBR2
29 11.81 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
30
Show member pathways
11.78 FBN1 FBN2 TGFB2 TGFB3
31 11.73 SMAD3 TGFBR1 TGFBR2
32 11.73 SMAD3 TGFBR1 TGFBR2
33 11.73 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
34
Show member pathways
11.71 SMAD3 TGFBR1 TGFBR2
35 11.63 SMAD3 SMAD6 TGFBR1 TGFBR2
36 11.59 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2
37 11.58 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
38 11.56 SMAD3 TGFB3 TGFBR1 TGFBR2
39 11.55 TGFB2 TGFBR1 TGFBR2
40
Show member pathways
11.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
41 11.45 TGFB2 TGFB3 TGFBR1 TGFBR2
42 11.39 ACTA2 MYH11 MYLK
43 11.33 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
44
Show member pathways
11.25 TGFB3 TGFBR1 TGFBR2
45 11.23 TGFB3 TGFBR1 TGFBR2
46 11.12 SMAD3 TGFBR1 TGFBR2
47 11.02 COL3A1 COL5A2 FBN1 FBN2 MYLK TGFB2
48 10.83 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
49 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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....