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LDS1
MCID: LYS019
MIFTS: 62

Loeys-Dietz Syndrome 1 (LDS1)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Loeys-Dietz Syndrome 1

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MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 57 11 19 73 28 5 14
Loeys-Dietz Aortic Aneurysm Syndrome 57 19 73 71
Furlong Syndrome 57 11 73 71
Lds1 57 11 73
Aat5 57 11 73
Loeys-Dietz Syndrome Type 1 19 71
Marfanoid Disorder-Craniosynostosis Syndrome 73
Aneurysm, Aortic, Thoracic, Familial, Type 5 38
Aortic Aneurysm Syndrome, Loeys-Dietz Type 19
Aortic Aneurysm, Familial Thoracic 5 57
Familial Throacic Aortic Aneurysm 5 11
Familial Thoracic Aortic Aneurysm 5 73
Loeys-Dietz Syndrome, Type 2a 71
Loeys-Dietz Syndrome, Type 1 38
Loeys-Dietz Syndrome 19
Ldas 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity (see )
uncommon and rare features seen in the most severely affected patients


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Immune diseases Cardiovascular diseases Eye diseases Bone diseases
See all MalaCards categories (disease lists)


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Summaries for Loeys-Dietz Syndrome 1

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GARD: 19 Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

MalaCards based summary: Loeys-Dietz Syndrome 1, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome 2 and loeys-dietz syndrome 3. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are ERK Signaling and Toll-like receptor signaling pathway. The drugs Heparin, bovine and Calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include uterus, spleen and skin, and related phenotypes are ascending aortic dissection and proptosis

OMIM®: 57 The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). (609192) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit.

Disease Ontology: 11 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
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Related Diseases for Loeys-Dietz Syndrome 1

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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 Loeys-Dietz Syndrome 6

Diseases related to Loeys-Dietz Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 229)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 2 32.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
2 loeys-dietz syndrome 3 32.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN1
3 loeys-dietz syndrome 4 32.1 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN1
4 aortic aneurysm, familial thoracic 4 31.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN2 FBN1
5 connective tissue disease 31.1 TGFBR2 SMAD3 SMAD2 FBN2 FBN1
6 aortic aneurysm, familial thoracic 1 31.0 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
7 aortic dissection 31.0 TGFBR1 TGFB2 SMAD3 FBN1
8 cleft palate, isolated 31.0 TGFBR2 TGFBR1 TGFB2 FBN1
9 multiple self-healing squamous epithelioma 30.9 TGFBR2 TGFBR1
10 aortic valve insufficiency 30.8 TGFBR2 TGFBR1 FBN2 FBN1
11 inguinal hernia 30.8 TGFBR2 TGFBR1 FBN1
12 contractural arachnodactyly, congenital 30.8 TGFBR2 TGFBR1 FBN2 FBN1
13 arterial tortuosity syndrome 30.7 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
14 loeys-dietz syndrome 5 30.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN1
15 craniosynostosis 30.6 TGFBR2 TGFBR1 SMAD3 FBN1
16 scoliosis 30.5 TGFBR2 TGFB2 FBN2 FBN1
17 subclavian artery aneurysm 30.4 TGFBR2 TGFBR1 FBN1
18 aortic disease 30.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
19 ehlers-danlos syndrome 30.1 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN2 FBN1
20 patent ductus arteriosus 1 30.0 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
21 lens subluxation 30.0 FBN2 FBN1
22 marfan syndrome 29.8 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
23 mitral valve disease 29.6 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
24 orthostatic intolerance 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
25 aortic valve disease 1 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
26 aortic aneurysm 29.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
27 loeys-dietz syndrome 29.1 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
28 shprintzen-goldberg craniosynostosis syndrome 11.5
29 meester-loeys syndrome 11.3
30 loeys-dietz syndrome 6 11.0
31 hypertelorism 10.9
32 uvula, bifid 10.9
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.9
34 pectus excavatum 10.6
35 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.6
36 ehlers-danlos syndrome, vascular type 10.6
37 hypermobile ehlers-danlos syndrome 10.6
38 talipes equinovarus 10.6
39 aortic valve disease 2 10.5
40 aortic aneurysm, familial abdominal, 1 10.5
41 isolated ectopia lentis 10.5
42 enterocele 10.5
43 cerebral aneurysms 10.5
44 hypotonia 10.5
45 spondylolisthesis 10.4
46 aortic valve disease 3 10.4
47 clubfoot 10.4
48 coronary artery aneurysm 10.4
49 coronary artery dissection, spontaneous 10.3
50 larsen syndrome 10.3

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 1:



Diseases related to Loeys-Dietz Syndrome 1
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Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

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Human phenotypes related to Loeys-Dietz Syndrome 1:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ascending aortic dissection 30 Frequent (33%) HP:0004933
2 proptosis 30 Frequent (33%) HP:0000520
3 scoliosis 30 Very rare (1%) HP:0002650
4 hydrocephalus 30 Very rare (1%) HP:0000238
5 global developmental delay 30 Very rare (1%) HP:0001263
6 hypertelorism 30 Very rare (1%) HP:0000316
7 retrognathia 30 Very rare (1%) HP:0000278
8 atrial septal defect 30 Very rare (1%) HP:0001631
9 joint laxity 30 Very rare (1%) HP:0001388
10 mitral valve prolapse 30 Very rare (1%) HP:0001634
11 talipes equinovarus 30 Very rare (1%) HP:0001762
12 arachnodactyly 30 Very rare (1%) HP:0001166
13 disproportionate tall stature 30 Very rare (1%) HP:0001519
14 patent ductus arteriosus 30 Very rare (1%) HP:0001643
15 malar flattening 30 Very rare (1%) HP:0000272
16 craniosynostosis 30 Very rare (1%) HP:0001363
17 blue sclerae 30 Very rare (1%) HP:0000592
18 bifid uvula 30 Very rare (1%) HP:0000193
19 aortic root aneurysm 30 Very rare (1%) HP:0002616
20 camptodactyly 30 Very rare (1%) HP:0012385
21 exotropia 30 Very rare (1%) HP:0000577
22 soft skin 30 Very rare (1%) HP:0000977
23 pulmonary artery aneurysm 30 Very rare (1%) HP:0004937
24 dermal translucency 30 Very rare (1%) HP:0010648
25 arterial tortuosity 30 Very rare (1%) HP:0005116
26 cervical spine instability 30 Very rare (1%) HP:0010646
27 chiari malformation 30 Very rare (1%) HP:0002308
28 abnormal sternum morphology 30 Very rare (1%) HP:0000766
29 intellectual disability 30 HP:0001249
30 micrognathia 30 HP:0000347
31 postaxial hand polydactyly 30 HP:0001162
32 dilatation of the cerebral artery 30 HP:0004944
33 eosinophilic infiltration of the esophagus 30 HP:0410151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

Head And Neck Face:
retrognathia
micrognathia

Skeletal Feet:
talipes equinovarus

Cardiovascular Vascular:
ascending aortic dissection
patent ductus arteriosus
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

Cardiovascular Heart:
atrial septal defect (uncommon)
mitral valve prolapse (uncommon)
bicuspid aortic valve (uncommon)
bicuspid pulmonary valve (rare)

Growth Other:
dolichostenomelia (uncommon)

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Skeletal:
joint laxity

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

Head And Neck Mouth:
bifid uvula
cleft palate (uncommon)

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Clinical features from OMIM®:

609192 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

25 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.92 SMAD2 TGFB2 TGFBR1 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.92 TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.92 TGFBR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.92 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.92 TGFB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.92 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.92 TGFBR1 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.92 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.92 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.92 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.92 SMAD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.92 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.92 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.92 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.92 TGFB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.92 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.92 SMAD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.92 SMAD2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.92 TGFB2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.92 TGFBR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.92 SMAD2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.92 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.92 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.92 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.92 TGFB2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.92 TGFB2 TGFBR1 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.92 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.92 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.92 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.92 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.92 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 DIO2 FBN1 FBN2 INF2 MRPL58 SMAD2
2 embryo MP:0005380 9.96 FBN1 INF2 MRPL58 NLRP7 SMAD2 SMAD3
3 endocrine/exocrine gland MP:0005379 9.92 DIO2 FBN1 NLRP7 SMAD2 SMAD3 TGFB2
4 craniofacial MP:0005382 9.7 FBN1 FBN2 SMAD2 SMAD3 TGFB2 TGFBR1
5 skeleton MP:0005390 9.61 DIO2 FBN1 FBN2 MRPL58 SMAD2 SMAD3
6 hematopoietic system MP:0005397 9.32 DCAF11 FBN1 FBN2 INF2 MRPL58 SMAD2
Sources

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

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Drugs for Loeys-Dietz Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
2 Calcium heparin
3 Liver Extracts

Interventional clinical trials:


# 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 Immunopathology of Loeys-Dietz Syndrome Recruiting NCT05472519
4 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
5 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
6 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
7 An Investigation Into the Epidemiology and Surgical Intervention for Proximal Aortic Disease in Scotland Not yet recruiting NCT05389865

Search NIH Clinical Center for Loeys-Dietz Syndrome 1

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Genetic Tests for Loeys-Dietz Syndrome 1

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Genetic tests related to Loeys-Dietz Syndrome 1:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 28 TGFBR1
Sources

Anatomical Context for Loeys-Dietz Syndrome 1

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Organs/tissues related to Loeys-Dietz Syndrome 1:

MalaCards : Uterus, Spleen, Skin, Brain, Heart, Lung, Liver
ODiseA: Artery-Aorta, Artery-Coronary, Artery, Heart, Respiratory System-Lung, Respiratory System
Sources

Publications for Loeys-Dietz Syndrome 1

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Articles related to Loeys-Dietz Syndrome 1:

(show top 50) (show all 758)
# Title Authors PMID Year
1
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 62 57 5
19542084 2009
2
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. 62 57 5
18070134 2008
3
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 62 57 5
16791849 2006
4
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 62 57 5
16928994 2006
5
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 62 57 5
16596670 2006
6
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 57 5
15731757 2005
7
Familial aortic dissecting aneurysm. 57 5
2647812 1989
8
Type A Aortic Dissection Caused by Loeys-Dietz Syndrome with Novel Variation. 62 5
32339686 2020
9
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. 62 5
29706644 2018
10
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 62 57
29392890 2018
11
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. 62 57
24344637 2014
12
Loeys-Dietz syndrome: a primer for diagnosis and management. 62 57
24577266 2014
13
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 62 57
18978651 2008
14
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. 5
34270679 2021
15
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 57
27879313 2016
16
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 5
21358634 2011
17
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 57
16027248 2005
18
Craniosynostosis and marfanoid habitus without mental retardation: report of a third case. 57
9605294 1998
19
Revised diagnostic criteria for the Marfan syndrome. 57
8723076 1996
20
Marfanoid features and craniosynostosis: report of one case and review. 57
8287183 1993
21
New Marfanoid syndrome with craniosynostosis. 57
3565476 1987
22
The spectrum of foot deformities in Loeys-Dietz syndrome. 62
36445364 2023
23
Chiari I Malformations and the Heritable Disorders of Connective Tissue. 62
36424065 2023
24
Peripheral immunophenotypes associated with the flare in the systemic lupus erythematosus patients with low disease activity state. 62
36270468 2022
25
Outcomes of descending and thoracoabdominal aortic repair in connective tissue disorder patients. 62
36151718 2022
26
Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient. 62
36356561 2022
27
A huge ascending aortic aneurysm in a 2-year boy with Loeys-Dietz syndrome. 62
36464235 2022
28
SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis. 62
35874167 2022
29
Endovascular and Hybrid Repair in Patients with Heritable Thoracic Aortic Disease. 62
35691461 2022
30
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome. 62
36350438 2022
31
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature. 62
36328362 2022
32
Long-term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement. 62
35989525 2022
33
Imaging appearance of atypical aortic dissection in a 7-year-old boy with Loeys-Dietz syndrome. 62
36069422 2022
34
Is prophylactic aortic arch replacement justified in patients with Loeys-Dietz Syndrome who present for ascending repair? 62
35989524 2022
35
Successive surgical repair of a progressive aortic dissection in a case of Loeys-Dietz Syndrome. 62
36403262 2022
36
Recent advances in predicting lncRNA-disease associations based on computational methods. 62
36370992 2022
37
Complete Aortic Replacement in a Patient With Loeys-Dietz Syndrome. 62
35705511 2022
38
Ocular findings in two Chinese children with Loeys-Dietz syndrome. 62
34053308 2022
39
MSF-UBRW: An Improved Unbalanced Bi-Random Walk Method to Infer Human lncRNA-Disease Associations. 62
36360269 2022
40
Mussel-inspired polyurethane coating for bio-surface functionalization to enhance substrate adhesion and cell biocompatibility. 62
35648635 2022
41
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features. 62
36103205 2022
42
The Arabidopsis Rab protein RABC1 affects stomatal development by regulating lipid droplet dynamics. 62
35929087 2022
43
Developing DHA microcapsules using linear dextrin aggregates of different chain length distributions. 62
35798420 2022
44
LDCMFC: Predicting Long Non-coding RNA and Disease Association Using Collaborative Matrix Factorization based on Correntropy. 62
36251902 2022
45
Intracranial Aneurysms in Loeys-Dietz Syndrome: A Multicenter Propensity-Matched Analysis. 62
35876667 2022
46
Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms. 62
36308480 2022
47
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. 62
34916229 2022
48
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient. 62
36219981 2022
49
Safety and Effectiveness of TEVAR in Native Proximal Landing Zone 2 for Chronic Type B Aortic Dissection in Patients With Genetic Aortic Syndrome. 62
34894819 2022
50
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system. 62
36189931 2022
Sources

Variations for Loeys-Dietz Syndrome 1

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

5 (show top 50) (show all 189)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR1 NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) SNV Pathogenic
 12521 rs121918711 GRCh37: 9:101908835-101908835
GRCh38: 9:99146553-99146553
2 TGFBR1 NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) SNV Pathogenic
 12522 rs121918712 GRCh37: 9:101900165-101900165
GRCh38: 9:99137883-99137883
3 TGFBR1 NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) SNV Pathogenic
 12523 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
4 TGFBR1 NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) SNV Pathogenic
 12527 rs121918713 GRCh37: 9:101894968-101894968
GRCh38: 9:99132686-99132686
5 TGFBR1 NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) SNV Pathogenic
 12520 rs121918710 GRCh37: 9:101904965-101904965
GRCh38: 9:99142683-99142683
6 TGFBR2 NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) SNV Pathogenic
 694685 rs1575165272 GRCh37: 3:30729991-30729991
GRCh38: 3:30688499-30688499
7 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) SNV Pathogenic
Likely Pathogenic
 12524 rs111854391 GRCh37: 9:101900288-101900288
GRCh38: 9:99138006-99138006
8 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) SNV Pathogenic
 12525 rs113605875 GRCh37: 9:101911535-101911535
GRCh38: 9:99149253-99149253
9 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic
Likely Pathogenic
 12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
10 TGFBR1 NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) SNV Likely Pathogenic
 861293 rs1827899415 GRCh37: 9:101911496-101911496
GRCh38: 9:99149214-99149214
11 TGFBR2 NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) SNV Likely Pathogenic
 265447 rs886039551 GRCh37: 3:30715678-30715678
GRCh38: 3:30674186-30674186
12 TGFBR1 NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) SNV Likely Pathogenic
 213882 rs760079636 GRCh37: 9:101904946-101904946
GRCh38: 9:99142664-99142664
13 TGFBR1 NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) SNV Likely Pathogenic
 213870 rs863223807 GRCh37: 9:101900152-101900152
GRCh38: 9:99137870-99137870
14 TGFBR1 NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) SNV Likely Pathogenic
 692013 rs1588585570 GRCh37: 9:101900329-101900329
GRCh38: 9:99138047-99138047
15 SMAD2 NM_005901.6(SMAD2):c.507_508del (p.Arg169fs) MICROSAT Likely Pathogenic
 1709170 GRCh37: 18:45395626-45395627
GRCh38: 18:47869255-47869256
16 TGFBR1 NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) SNV Likely Pathogenic
 992362 rs1827646767 GRCh37: 9:101904839-101904839
GRCh38: 9:99142557-99142557
17 TGFBR1 NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) SNV Likely Pathogenic
 652276 rs1588598651 GRCh37: 9:101911521-101911521
GRCh38: 9:99149239-99149239
18 TGFBR1 NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) SNV Likely Pathogenic
 1034099 rs1827647083 GRCh37: 9:101904841-101904841
GRCh38: 9:99142559-99142559
19 TGFBR1 NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) SNV Likely Pathogenic
 635251 rs1564161322 GRCh37: 9:101900171-101900171
GRCh38: 9:99137889-99137889
20 TGFBR1 NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) SNV Likely Pathogenic
 1320270 GRCh37: 9:101900206-101900206
GRCh38: 9:99137924-99137924
21 TGFBR1 NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) SNV Likely Pathogenic
 949020 rs1564161544 GRCh37: 9:101900239-101900239
GRCh38: 9:99137957-99137957
22 TGFBR1 NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) SNV Likely Pathogenic
 1332769 GRCh37: 9:101908834-101908834
GRCh38: 9:99146552-99146552
23 TGFBR1 NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) SNV Likely Pathogenic
 800489 rs1588585506 GRCh37: 9:101900301-101900301
GRCh38: 9:99138019-99138019
24 TGFBR1 NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) SNV Likely Pathogenic
 488621 rs727503470 GRCh37: 9:101900206-101900206
GRCh38: 9:99137924-99137924
25 TGFBR1 NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) SNV Likely Pathogenic
 520505 rs1554701914 GRCh37: 9:101907101-101907101
GRCh38: 9:99144819-99144819
26 TGFBR1 NM_004612.4(TGFBR1):c.*3317C>G SNV Uncertain Significance
 364166 rs201113438 GRCh37: 9:101914904-101914904
GRCh38: 9:99152622-99152622
27 TGFBR1 NM_004612.4(TGFBR1):c.*2410C>T SNV Uncertain Significance
 364145 rs200722893 GRCh37: 9:101913997-101913997
GRCh38: 9:99151715-99151715
28 TGFBR1 NM_004612.4(TGFBR1):c.*4147G>A SNV Uncertain Significance
 364180 rs570685518 GRCh37: 9:101915734-101915734
GRCh38: 9:99153452-99153452
29 TGFBR1 NM_004612.4(TGFBR1):c.*2103T>G SNV Uncertain Significance
 364138 rs7871490 GRCh37: 9:101913690-101913690
GRCh38: 9:99151408-99151408
30 TGFBR1 NM_004612.4(TGFBR1):c.*2799C>T SNV Uncertain Significance
 364154 rs200274678 GRCh37: 9:101914386-101914386
GRCh38: 9:99152104-99152104
31 TGFBR1 NM_004612.4(TGFBR1):c.*2791G>A SNV Uncertain Significance
 364153 rs201846922 GRCh37: 9:101914378-101914378
GRCh38: 9:99152096-99152096
32 TGFBR1 NM_004612.4(TGFBR1):c.*1368C>A SNV Uncertain Significance
 364117 rs886063231 GRCh37: 9:101912955-101912955
GRCh38: 9:99150673-99150673
33 TGFBR1 NM_004612.4(TGFBR1):c.*2634TCT[1] MICROSAT Uncertain Significance
 364147 rs886063244 GRCh37: 9:101914221-101914223
GRCh38: 9:99151939-99151941
34 TGFBR1 NM_004612.4(TGFBR1):c.*1787T>C SNV Uncertain Significance
 364126 rs886063235 GRCh37: 9:101913374-101913374
GRCh38: 9:99151092-99151092
35 TGFBR1 NM_004612.4(TGFBR1):c.*2547A>G SNV Uncertain Significance
 364146 rs886063243 GRCh37: 9:101914134-101914134
GRCh38: 9:99151852-99151852
36 TGFBR1 NM_004612.4(TGFBR1):c.*3482C>G SNV Uncertain Significance
 364170 rs201952588 GRCh37: 9:101915069-101915069
GRCh38: 9:99152787-99152787
37 TGFBR1 NM_004612.4(TGFBR1):c.*1924G>T SNV Uncertain Significance
 364128 rs886063236 GRCh37: 9:101913511-101913511
GRCh38: 9:99151229-99151229
38 TGFBR1 NM_004612.4(TGFBR1):c.*3432G>T SNV Uncertain Significance
 364169 rs886063251 GRCh37: 9:101915019-101915019
GRCh38: 9:99152737-99152737
39 TGFBR1 NM_004612.4(TGFBR1):c.*1772A>C SNV Uncertain Significance
 364125 rs201191009 GRCh37: 9:101913359-101913359
GRCh38: 9:99151077-99151077
40 TGFBR1 NM_004612.4(TGFBR1):c.*309C>T SNV Uncertain Significance
 364104 rs886063226 GRCh37: 9:101911896-101911896
GRCh38: 9:99149614-99149614
41 TGFBR1 NM_004612.4(TGFBR1):c.*2833G>A SNV Uncertain Significance
 364156 rs200520116 GRCh37: 9:101914420-101914420
GRCh38: 9:99152138-99152138
42 TGFBR1 NM_004612.4(TGFBR1):c.*4467C>A SNV Uncertain Significance
 364184 rs886063257 GRCh37: 9:101916054-101916054
GRCh38: 9:99153772-99153772
43 TGFBR1 NM_004612.4(TGFBR1):c.-13T>C SNV Uncertain Significance
 364096 rs886063220 GRCh37: 9:101867475-101867475
GRCh38: 9:99105193-99105193
44 TGFBR1 NM_004612.4(TGFBR1):c.*4804dup DUP Uncertain Significance
 364192 rs561572489 GRCh37: 9:101916380-101916381
GRCh38: 9:99154098-99154099
45 TGFBR1 NM_004612.4(TGFBR1):c.*1269T>G SNV Uncertain Significance
 364116 rs189032587 GRCh37: 9:101912856-101912856
GRCh38: 9:99150574-99150574
46 TGFBR1 NM_004612.4(TGFBR1):c.*3567G>A SNV Uncertain Significance
 364171 rs886063252 GRCh37: 9:101915154-101915154
GRCh38: 9:99152872-99152872
47 TGFBR1 NM_004612.4(TGFBR1):c.*2768T>A SNV Uncertain Significance
 364152 rs886063246 GRCh37: 9:101914355-101914355
GRCh38: 9:99152073-99152073
48 TGFBR1 NM_004612.4(TGFBR1):c.*2713G>T SNV Uncertain Significance
 364151 rs886063245 GRCh37: 9:101914300-101914300
GRCh38: 9:99152018-99152018
49 TGFBR1 NM_004612.4(TGFBR1):c.-43C>A SNV Uncertain Significance
 364095 rs886063219 GRCh37: 9:101867445-101867445
GRCh38: 9:99105163-99105163
50 TGFBR1 NM_004612.4(TGFBR1):c.*709C>T SNV Uncertain Significance
 364109 rs886063228 GRCh37: 9:101912296-101912296
GRCh38: 9:99150014-99150014

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 1:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TGFBR1 p.Thr200Ile VAR_022344 rs121918712
2 TGFBR1 p.Met318Arg VAR_022345 rs121918710
3 TGFBR1 p.Asp400Gly VAR_022346 rs121918711
4 TGFBR1 p.Arg487Pro VAR_022347 rs113605875
5 TGFBR1 p.Lys232Glu VAR_029481
6 TGFBR1 p.Ser241Leu VAR_029482 rs111854391
7 TGFBR1 p.Arg487Gln VAR_029484 rs113605875
8 TGFBR1 p.Arg487Trp VAR_029485 rs111426349
9 TGFBR1 p.Asp266Tyr VAR_066720
10 TGFBR1 p.Asp351Gly VAR_066721
11 TGFBR1 p.Thr375Arg VAR_066722

Sources

Expression for Loeys-Dietz Syndrome 1

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Search GEO for disease gene expression data for Loeys-Dietz Syndrome 1.
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Pathways for Loeys-Dietz Syndrome 1

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Pathways related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN2
2
Toll-like receptor signaling pathway 74
Show member pathways
 12.77 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
3
Deubiquitination 66
Show member pathways
 12.71 TGFBR2 TGFBR1 SMAD3 SMAD2
4
Endometrial cancer 74
Show member pathways
 12.65 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
5
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.46 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
6
Cell cycle Regulation of G1/S transition (part 1) 22
Show member pathways
 12.34 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
7
Signaling by TGFB family members 66
Show member pathways
 12.33 FBN1 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
8
Wnt / Hedgehog / Notch 3
12.19 TGFBR1 TGFB2 SMAD3 SMAD2
9
Colorectal Cancer Metastasis 64
12.17 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
10
Epithelial to mesenchymal transition in colorectal cancer 74
12.15 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
11
Cell cycle 74
Show member pathways
 12.13 TGFB2 SMAD3 SMAD2
12
Neuroinflammation and glutamatergic signaling 74
12.07 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
13
Integrated breast cancer pathway 74
12.04 TGFBR2 TGFBR1 SMAD2
14
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.02 SMAD3 TGFBR1 TGFBR2
15
GDNF signaling 74
11.97 TGFBR1 SMAD3 SMAD2
16
TGF-beta receptor signaling in skeletal dysplasias 74
Show member pathways
 11.95 TGFBR2 TGFBR1 SMAD3 SMAD2 FBN1
17
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.87 TGFBR2 TGFBR1 SMAD3 SMAD2
18
Overlap between signal transduction pathways contributing to LMNA laminopathies 74
Show member pathways
 11.8 TGFB2 SMAD3 SMAD2
19
TGF-beta Signaling Pathways 65
11.78 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
20
Elastic fibre formation 66
Show member pathways
 11.74 TGFB2 FBN2 FBN1
21
Development_TGF-beta receptor signaling 22
11.73 SMAD2 SMAD3 TGFBR1 TGFBR2
22
Burn wound healing 74
11.7 TGFB2 SMAD3 FBN1
23
Transcription_P53 signaling pathway 22
11.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
24
Th17 Differentiation 65
Show member pathways
 11.68 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
25
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
26
TGF-beta receptor signaling 61
11.54 TGFBR2 TGFBR1 SMAD3 SMAD2
27
Cell adhesion_Plasmin signaling 22
11.5 TGFBR2 TGFBR1 TGFB2
28
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.43 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN1
29
Neovascularisation processes 74
11.31 TGFBR1 TGFB2 SMAD3 SMAD2
30
NRP1-triggered signaling pathways in pancreatic cancer 74
11.28 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
31
Angiotensin II receptor type 1 pathway 74
11.25 TGFBR2 TGFBR1 SMAD3
32
Extracellular vesicle-mediated signaling in recipient cells 74
11.18 TGFBR1 TGFB2 SMAD3 SMAD2
33
Progeria-associated lipodystrophy 74
Show member pathways
 11.13 SMAD3 SMAD2 FBN1
34
SMAD2/3 Phosphorylation Motif Mutants in Cancer 66
Show member pathways
 11.1 TGFBR2 TGFBR1 SMAD3 SMAD2
35
ALK1 signaling events 61
Show member pathways
 11.08 TGFBR2 TGFBR1
36
Glypican 1 network 61
11.05 TGFBR2 TGFBR1 SMAD2
37
Regucalcin in proximal tubule epithelial kidney cells 74
11.02 TGFBR1 SMAD2
38
IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types 65
11 TGFBR2 TGFBR1 TGFB2
39
Beta5 beta6 beta7 and beta8 integrin cell surface interactions 61
10.9 TGFBR1 FBN1
40
TGF-beta signaling in thyroid cells for epithelial-mesenchymal transition 74
10.81 SMAD3 SMAD2
41
Canonical and non-canonical TGF-B signaling 74
10.79 SMAD2 SMAD3 TGFBR1 TGFBR2
42
Regulation of cytoplasmic and nuclear SMAD2/3 signaling 61
10.78 SMAD3 SMAD2
43
SMAD2/3 MH2 Domain Mutants in Cancer 66
Show member pathways
 10.61 SMAD3 SMAD2
44
Hypothesized pathways in pathogenesis of cardiovascular disease 74
10.5 TGFBR2 TGFBR1 SMAD3 SMAD2 FBN2 FBN1
Sources

GO Terms for Loeys-Dietz Syndrome 1

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Cellular components related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfibril GO:0001527 9.56 FBN2 FBN1
2 heteromeric SMAD protein complex GO:0071144 9.46 SMAD3 SMAD2
3 SMAD protein complex GO:0071141 9.26 SMAD3 SMAD2
4 transforming growth factor beta ligand-receptor complex GO:0070021 8.92 TGFBR2 TGFBR1

Biological processes related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 10.25 SMAD2 SMAD3 TGFBR1 TGFBR2
2 anatomical structure morphogenesis GO:0009653 10.18 SMAD3 SMAD2 FBN2 FBN1
3 heart development GO:0007507 10.15 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
4 cellular response to transforming growth factor beta stimulus GO:0071560 10.11 TGFBR1 SMAD3 FBN1
5 skeletal system development GO:0001501 10.11 TGFBR1 TGFB2 SMAD3 FBN1
6 SMAD protein signal transduction GO:0060395 10.1 TGFB2 SMAD3 SMAD2
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.07 TGFB2 TGFBR1 TGFBR2
8 transforming growth factor beta receptor signaling pathway GO:0007179 10.07 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
9 wound healing GO:0042060 10.02 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
10 ventricular septum morphogenesis GO:0060412 10 TGFBR2 TGFBR1 TGFB2
11 cardiac epithelial to mesenchymal transition GO:0060317 9.98 TGFBR1 TGFB2
12 ventricular trabecula myocardium morphogenesis GO:0003222 9.97 TGFBR1 TGFB2
13 primary miRNA processing GO:0031053 9.97 SMAD3 SMAD2
14 BMP signaling pathway GO:0030509 9.96 TGFB2 SMAD3 SMAD2
15 atrioventricular valve morphogenesis GO:0003181 9.96 TGFBR2 TGFB2
16 embryonic eye morphogenesis GO:0048048 9.95 FBN2 FBN1
17 nodal signaling pathway GO:0038092 9.94 SMAD3 SMAD2
18 embryonic foregut morphogenesis GO:0048617 9.93 SMAD2 SMAD3
19 pericardium development GO:0060039 9.93 SMAD2 SMAD3
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.93 TGFBR2 TGFBR1 TGFB2
21 membranous septum morphogenesis GO:0003149 9.92 TGFBR2 TGFB2
22 SMAD protein complex assembly GO:0007183 9.91 SMAD3 SMAD2
23 common-partner SMAD protein phosphorylation GO:0007182 9.91 TGFBR2 SMAD2
24 gastrulation GO:0007369 9.91 TGFBR2 SMAD3 SMAD2
25 secondary palate development GO:0062009 9.91 TGFBR2 TGFB2 SMAD2
26 endocardial cushion fusion GO:0003274 9.88 TGFBR2 TGFB2
27 response to cholesterol GO:0070723 9.88 TGFBR2 TGFBR1 SMAD2
28 regulation of transforming growth factor beta2 production GO:0032909 9.86 SMAD3 TGFB2
29 embryonic cranial skeleton morphogenesis GO:0048701 9.86 TGFBR2 TGFBR1 SMAD3 SMAD2
30 sequestering of TGFbeta in extracellular matrix GO:0035583 9.85 FBN1 FBN2
31 regulation of binding GO:0051098 9.84 SMAD2 SMAD3
32 paraxial mesoderm morphogenesis GO:0048340 9.78 SMAD2 SMAD3
33 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 TGFBR2 TGFBR1
34 regulation of nitrogen compound metabolic process GO:0051171 9.66 TGFBR2 TGFBR1
35 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.63 TGFB2 TGFBR1 TGFBR2
36 regulation of multicellular organismal process GO:0051239 9.6 TGFBR2 TGFBR1
37 activin receptor signaling pathway GO:0032924 9.56 TGFBR2 TGFBR1 SMAD3 SMAD2
38 positive regulation of epithelial to mesenchymal transition GO:0010718 9.32 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2

Molecular functions related to Loeys-Dietz Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 activin binding GO:0048185 9.8 TGFBR2 TGFBR1
2 co-SMAD binding GO:0070410 9.78 SMAD3 SMAD2
3 type I transforming growth factor beta receptor binding GO:0034713 9.76 TGFBR2 SMAD2
4 type II transforming growth factor beta receptor binding GO:0005114 9.73 TGFBR1 TGFB2
5 transforming growth factor beta receptor activity GO:0005024 9.67 TGFBR1 TGFBR2
6 I-SMAD binding GO:0070411 9.63 TGFBR1 SMAD3 SMAD2
7 extracellular matrix constituent conferring elasticity GO:0030023 9.62 FBN1 FBN2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.58 TGFBR2 TGFBR1
9 type III transforming growth factor beta receptor binding GO:0034714 9.43 TGFBR2 TGFB2
10 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB2 SMAD3 SMAD2
11 SMAD binding GO:0046332 9.17 TGFBR2 TGFBR1 SMAD3 SMAD2
Sources

Sources for Loeys-Dietz Syndrome 1

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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