LDS3
MCID: LYS021
MIFTS: 59

Loeys-Dietz Syndrome 3 (LDS3)

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 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Name: Loeys-Dietz Syndrome 3 57 11 73 14 71
Loeys-Dietz Syndrome with Osteoarthritis 57 11 19 73
Aneurysms-Osteoarthritis Syndrome 57 11 19 73
Aneurysm-Osteoarthritis Syndrome 19 58 28 5
Lds3 57 11 19 73
Loeys-Dietz Syndrome, Type 3 19 38
Lds1c 11 73
Loeys-Dietz Syndrome, Type 1c, Formerly 57
Aneurysm - Osteoarthritis Syndrome 19
Loeys-Dietz Syndrome, Type 1c 19
Loeys-Dietz Syndrome Type 1c 11
Loeys-Dietz Syndrome Type 3 19
Loeys-Dietz Syndrome 1c 73
Lds1c, Formerly 57
Aos 73

Characteristics:


Inheritance:

Loeys-Dietz Syndrome 3: Autosomal dominant 57
Aneurysm-Osteoarthritis Syndrome: Autosomal dominant 58

Prevelance:

Aneurysm-Osteoarthritis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Aneurysm-Osteoarthritis Syndrome: All ages 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


Summaries for Loeys-Dietz Syndrome 3

GARD: 19 A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.

MalaCards based summary: Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to supravalvular aortic stenosis and intraocular pressure quantitative trait locus. An important gene associated with Loeys-Dietz Syndrome 3 is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include heart, bone and skin, and related phenotypes are pes planus and dilatation of the sinus of valsalva

Orphanet: 58 A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.

UniProtKB/Swiss-Prot: 73 An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and intellectual disability.

Disease Ontology: 11 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the SMAD3 gene on chromosome 15q.

More information from OMIM: 613795 PS609192

Related Diseases for Loeys-Dietz Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 supravalvular aortic stenosis 30.8 MYH11 FBN1 EFEMP2 ACTA2
2 intraocular pressure quantitative trait locus 30.1 TGFB2 SMAD2 FBN1
3 loeys-dietz syndrome 1 29.9 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2 FBN1
4 contractural arachnodactyly, congenital 29.9 TGFBR2 TGFBR1 SLC2A10 FBN1
5 marfan syndrome 29.8 TGFBR2 TGFBR1 TGFB2 FBN1 ACTA2
6 melorheostosis 29.6 SMAD3 SMAD2
7 inguinal hernia 29.6 TGFBR2 TGFBR1 SLC2A10 FBN1 EFEMP2
8 connective tissue disease 29.6 TGFBR2 SMAD3 SMAD2 FBN1 ACTA2
9 cataract 29.4 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
10 myopia 29.3 TGFB3 TGFB2 MYH11 FBN1
11 pulmonary hypertension 28.8 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2 ACTA2
12 aortic dissection 28.5 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 MYH11
13 aortic aneurysm, familial thoracic 4 28.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14 arterial tortuosity syndrome 28.0 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
15 aortic aneurysm 27.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 loeys-dietz syndrome 27.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17 aortic aneurysm, familial thoracic 1 27.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18 adams-oliver syndrome 11.6
19 adams-oliver syndrome 1 11.3
20 adams-oliver syndrome 5 11.1
21 progressive non-fluent aphasia 11.1
22 oliver syndrome 11.0
23 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.0
24 aortic valve disease 2 11.0
25 aplasia cutis congenita, nonsyndromic 10.9
26 adams-oliver syndrome 6 10.9
27 osteoarthritis 10.4
28 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
29 pulsating exophthalmos 10.2 TGFBR2 TGFBR1
30 ectopia lentis 2, isolated, autosomal recessive 10.2 TGFBR2 FBN1
31 ectopia lentis 1, isolated, autosomal dominant 10.2 TGFBR2 FBN1
32 palmoplantar keratosis 10.2
33 multiple self-healing squamous epithelioma 10.2 TGFBR2 TGFBR1
34 ureteric orifice cancer 10.2 FBN1 EFEMP2
35 hypertelorism 10.2
36 uvula, bifid 10.2
37 scoliosis 10.2
38 subclavian artery aneurysm 10.1 TGFBR2 TGFBR1 FBN1
39 mitochondrial dna depletion syndrome 12b 10.1 TGFBR2 TGFBR1 FBN1
40 peyronie's disease 10.1 SMAD3 SMAD2
41 macular degeneration, age-related, 1 10.1
42 bladder diverticulum 10.1 SLC2A10 EFEMP2
43 camurati-engelmann disease 10.1 TGFBR2 TGFBR1 TGFB2
44 cutis laxa, autosomal recessive, type ic 10.1 FBN1 EFEMP2
45 spastic paraplegia 76, autosomal recessive 10.1 TGFB3 TGFB2
46 bullous keratopathy 10.1 TGFB3 TGFB2 FBN1
47 pulmonary hypertension, primary, 1 10.1
48 retinal detachment 10.1
49 apraxia 10.1
50 eye disease 10.1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 3:



Diseases related to Loeys-Dietz Syndrome 3

Symptoms & Phenotypes for Loeys-Dietz Syndrome 3

Human phenotypes related to Loeys-Dietz Syndrome 3:

58 30 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001763
2 dilatation of the sinus of valsalva 58 30 Very rare (1%) Very frequent (99-80%)
HP:0011645
3 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002650
4 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
5 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
6 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
7 dental malocclusion 58 30 Very rare (1%) Frequent (79-30%)
HP:0000689
8 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
9 atypical scarring of skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000987
10 aortic dissection 58 30 Frequent (33%) Frequent (79-30%)
HP:0002647
11 arterial dissection 58 30 Frequent (33%) Frequent (79-30%)
HP:0005294
12 mitral regurgitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001653
13 striae distensae 58 30 Very rare (1%) Frequent (79-30%)
HP:0001065
14 arachnodactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001166
15 chronic fatigue 58 30 Very rare (1%) Frequent (79-30%)
HP:0012432
16 protrusio acetabuli 58 30 Very rare (1%) Frequent (79-30%)
HP:0003179
17 long face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000276
18 malar flattening 58 30 Very rare (1%) Frequent (79-30%)
HP:0000272
19 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
20 migraine 58 30 Very rare (1%) Frequent (79-30%)
HP:0002076
21 bruising susceptibility 58 30 Very rare (1%) Frequent (79-30%)
HP:0000978
22 bifid uvula 58 30 Very rare (1%) Frequent (79-30%)
HP:0000193
23 aortic regurgitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001659
24 uterine prolapse 58 30 Very rare (1%) Frequent (79-30%)
HP:0000139
25 arterial tortuosity 58 30 Frequent (33%) Frequent (79-30%)
HP:0005116
26 osteoarthritis of the small joints of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0004268
27 dilatation of the cerebral artery 58 30 Very rare (1%) Frequent (79-30%)
HP:0004944
28 knee osteoarthritis 58 30 Very rare (1%) Frequent (79-30%)
HP:0005086
29 abnormality of bladder morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0025487
30 pectus carinatum 58 30 Very rare (1%) Occasional (29-5%)
HP:0000768
31 retrognathia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000278
32 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
33 joint laxity 58 30 Very rare (1%) Occasional (29-5%)
HP:0001388
34 left ventricular hypertrophy 58 30 Very rare (1%) Occasional (29-5%)
HP:0001712
35 disproportionate tall stature 58 30 Very rare (1%) Occasional (29-5%)
HP:0001519
36 dural ectasia 58 30 Very rare (1%) Occasional (29-5%)
HP:0100775
37 spondylolisthesis 58 30 Very rare (1%) Occasional (29-5%)
HP:0003302
38 pulmonic stenosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0001642
39 camptodactyly of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100490
40 atrial fibrillation 58 30 Very rare (1%) Occasional (29-5%)
HP:0005110
41 osteochondritis dissecans 58 30 Very rare (1%) Occasional (29-5%)
HP:0010886
42 intervertebral disc degeneration 58 30 Very rare (1%) Occasional (29-5%)
HP:0008419
43 abdominal aortic aneurysm 30 Very rare (1%) HP:0005112
44 osteoporosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000939
45 patent ductus arteriosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001643
46 craniosynostosis 58 30 Very rare (1%) Excluded (0%)
HP:0001363
47 cataract 30 Very rare (1%) HP:0000518
48 atrial septal defect 30 Very rare (1%) HP:0001631
49 bicuspid aortic valve 30 Very rare (1%) HP:0001647
50 pneumothorax 30 Very rare (1%) HP:0002107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
dural ectasia
spondylolisthesis
intervertebral disc degeneration
facet joint osteoarthritis
more
Head And Neck Eyes:
hypertelorism

Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
osteochondritis dissecans
knee osteoarthritis
long bone overgrowth (dolichostenomelia)
meniscal lesions
more
Skeletal Hands:
arachnodactyly
camptodactyly
hand osteoarthritis

Genitourinary Internal Genitalia Female:
uterine prolapse

Skin Nails Hair Skin:
easy bruisability
atrophic scarring
striae
skin velvety

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal:
osteoporosis (rare)

Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Teeth:
dental malocclusion

Cardiovascular Vascular:
aortic dissection
aortic aneurysm
arterial tortuosity
arterial aneurysm
persistent ductus arteriosus (rare)
more
Cardiovascular Heart:
mitral valve prolapse
left ventricular hypertrophy
atrial fibrillation
aortic insufficiency
mitral valve regurgitation
more
Skeletal Pelvis:
protrusio acetabuli
hip osteoarthritis

Head And Neck Mouth:
high-arched palate
cleft palate (rare)
abnormal uvula

Genitourinary Bladder:
bladder prolapse

Abdomen Gastrointestinal:
bowel prolapse

Clinical features from OMIM®:

613795 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

25 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.98 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.98 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 SMAD2 SMAD4 TGFB2 TGFBR1 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.98 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.98 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.98 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.98 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.98 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.98 TGFBR1 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.98 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.98 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 TGFBR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.98 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.98 SMAD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.98 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.98 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.98 SMAD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.98 TGFB2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.98 TGFBR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.98 SMAD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.98 SMAD2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.98 SMAD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.98 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.98 TGFBR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.98 SMAD2 SMAD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.98 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.98 TGFBR2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.98 TGFB2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.98 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.98 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.98 TGFB2 TGFBR1 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.98 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.98 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.98 TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.98 TGFBR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 TGFBR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.98 TGFBR1
39 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.46 MYLK SMAD2 SMAD4 TGFBR2
40 Increased mitotic index GR00110-A-0 9.13 SMAD2 SMAD4 TGFBR2

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 EFEMP2 FBN1 MYH11 MYLK SMAD2 SMAD3
2 cardiovascular system MP:0005385 10.22 ACTA2 EFEMP2 FBN1 MYH11 MYLK SLC2A10
3 muscle MP:0005369 10.19 ACTA2 EFEMP2 FBN1 MYH11 MYLK SMAD4
4 renal/urinary system MP:0005367 10.15 FBN1 MYH11 MYLK SLC2A10 SMAD3 SMAD4
5 digestive/alimentary MP:0005381 10.13 MYH11 MYLK SMAD2 SMAD3 SMAD4 TGFB2
6 cellular MP:0005384 10.13 EFEMP2 FBN1 MYH11 SMAD2 SMAD3 SMAD4
7 immune system MP:0005387 10.11 FBN1 KRT86 MYLK SLC2A10 SMAD2 SMAD3
8 normal MP:0002873 10.1 EFEMP2 MYLK SMAD2 SMAD4 TGFB3 TGFBR1
9 embryo MP:0005380 10.1 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
10 craniofacial MP:0005382 10.06 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
11 limbs/digits/tail MP:0005371 10 EFEMP2 FBN1 SMAD3 SMAD4 TGFB2 TGFB3
12 respiratory system MP:0005388 9.97 EFEMP2 FBN1 MYH11 SLC2A10 SMAD2 TGFB2
13 skeleton MP:0005390 9.96 EFEMP2 FBN1 MYLK SMAD2 SMAD3 SMAD4
14 hematopoietic system MP:0005397 9.85 FBN1 KRT86 SLC2A10 SMAD2 SMAD3 SMAD4
15 mortality/aging MP:0010768 9.7 EFEMP2 FBN1 MYH11 MYLK SMAD2 SMAD3
16 integument MP:0010771 9.28 EFEMP2 FBN1 KRT86 MYH11 SMAD2 SMAD3

Drugs & Therapeutics for Loeys-Dietz Syndrome 3

Search Clinical Trials, NIH Clinical Center for Loeys-Dietz Syndrome 3

Genetic Tests for Loeys-Dietz Syndrome 3

Genetic tests related to Loeys-Dietz Syndrome 3:

# Genetic test Affiliating Genes
1 Aneurysm-Osteoarthritis Syndrome 28 SMAD3

Anatomical Context for Loeys-Dietz Syndrome 3

Organs/tissues related to Loeys-Dietz Syndrome 3:

MalaCards : Heart, Bone, Skin, Bone Marrow, Lung
ODiseA: Artery-Aorta, Blood And Bone Marrow, Artery-Coronary, Artery, Respiratory System-Lung, Respiratory System

Publications for Loeys-Dietz Syndrome 3

Articles related to Loeys-Dietz Syndrome 3:

(show all 45)
# Title Authors PMID Year
1
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 62 57 5
22167769 2012
2
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 62 57 5
21778426 2011
3
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. 57 5
21815248 2011
4
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 57 5
21217753 2011
5
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. 5
30661052 2019
6
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. 5
24804794 2014
7
SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis. 62
35874167 2022
8
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient. 62
36219981 2022
9
Comorbid palmoplantar keratoderma type 1A and Loeys-Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion. 62
35060187 2022
10
Surgical Management of Intraoperative Aortic Dissection in Type 3 Loeys-Dietz Syndrome with MYH11 Co-Mutation. 62
33798051 2021
11
Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection. 62
32022471 2020
12
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly. 62
32100971 2020
13
Psychological well-being in patients with aneurysms-osteoarthritis syndrome. 62
31132219 2019
14
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. 62
31096651 2019
15
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 62
29510914 2018
16
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. 62
29717556 2018
17
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. 62
29444731 2018
18
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. 62
28541520 2017
19
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. 62
28737872 2017
20
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 62
28185953 2017
21
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. 62
27986426 2017
22
Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling. 62
27688095 2016
23
Straight incision for extended descending and thoracoabdominal aortic replacement: novel and simple exposure with rib-cross thoracotomy. 62
27209533 2016
24
Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3. 62
26409702 2015
25
Spontaneous intracranial hypotension as first symptom of aneurysms-osteoarthritis syndrome: a case report. 62
25877775 2015
26
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. 62
26221609 2015
27
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes. 62
24867163 2015
28
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 62
25163805 2014
29
Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome. 62
24583347 2014
30
SMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study. 62
24852296 2014
31
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 62
24711937 2014
32
Deletion of integrin-linked kinase from neural crest cells in mice results in aortic aneurysms and embryonic lethality. 62
23744273 2013
33
SMAD3 deficiency promotes inflammatory aortic aneurysms in angiotensin II-infused mice via activation of iNOS. 62
23782924 2013
34
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 62
23554019 2013
35
The genetics and genomics of thoracic aortic disease. 62
23977594 2013
36
GM-CSF contributes to aortic aneurysms resulting from SMAD3 deficiency. 62
23585475 2013
37
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection. 62
22803640 2013
38
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome. 62
22939450 2013
39
Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. 62
23272854 2013
40
Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms. 62
22975338 2013
41
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]. 62
23693005 2013
42
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. 62
22633655 2012
43
Formate dehydrogenase, an enzyme of anaerobic metabolism, is induced by iron deficiency in barley roots. 62
9489019 1998
44
Transfer of habituation between stimulation sites of the siphon withdrawal reflex in Aplysia californica. 62
6616335 1983
45
Central and peripheral control of siphon-withdrawal reflex in Aplysia californica. 62
217974 1979

Variations for Loeys-Dietz Syndrome 3

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

5 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD3 NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) DEL Pathogenic
30307 rs587776880 GRCh37: 15:67473661-67473662
GRCh38: 15:67181323-67181324
2 SMAD3 NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) SNV Pathogenic
30308 rs387906851 GRCh37: 15:67473702-67473702
GRCh38: 15:67181364-67181364
3 SMAD3 NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) SNV Pathogenic
30310 rs387906852 GRCh37: 15:67473756-67473756
GRCh38: 15:67181418-67181418
4 SMAD3 NM_005902.4(SMAD3):c.313del (p.Ala105fs) DEL Pathogenic
30313 rs587776882 GRCh37: 15:67457337-67457337
GRCh38: 15:67164999-67164999
5 SMAD3 NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter) SNV Pathogenic
30315 rs387906856 GRCh37: 15:67479774-67479774
GRCh38: 15:67187436-67187436
6 SMAD3 NM_005902.4(SMAD3):c.736del (p.Glu246fs) DEL Pathogenic
694380 rs1595956538 GRCh37: 15:67473653-67473653
GRCh38: 15:67181315-67181315
7 SMAD3 NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup) MICROSAT Pathogenic
694381 rs1595941653 GRCh37: 15:67457291-67457292
GRCh38: 15:67164953-67164954
8 SMAD3 NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) SNV Pathogenic
263520 rs886038836 GRCh37: 15:67479846-67479846
GRCh38: 15:67187508-67187508
9 SMAD3 NM_005902.4(SMAD3):c.874del (p.Arg292fs) DEL Pathogenic
694383 rs1595960347 GRCh37: 15:67477066-67477066
GRCh38: 15:67184728-67184728
10 SMAD3 NM_005902.4(SMAD3):c.668del (p.Pro223fs) DEL Pathogenic
694384 rs1595956416 GRCh37: 15:67473587-67473587
GRCh38: 15:67181249-67181249
11 SMAD3 NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) SNV Pathogenic
30306 rs387906850 GRCh37: 15:67473779-67473779
GRCh38: 15:67181441-67181441
12 SMAD3 NM_005902.4(SMAD3):c.653del (p.Asn218fs) DEL Pathogenic
30309 rs587776881 GRCh37: 15:67462936-67462936
GRCh38: 15:67170598-67170598
13 SMAD3 NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) SNV Pathogenic
30312 rs387906854 GRCh37: 15:67457361-67457361
GRCh38: 15:67165023-67165023
14 SMAD3 NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) SNV Likely Pathogenic
30314 rs387906855 GRCh37: 15:67473708-67473708
GRCh38: 15:67181370-67181370
15 SMAD3 NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) INDEL Likely Pathogenic
1334527 GRCh37: 15:67473728-67473732
GRCh38: 15:67181390-67181394
16 SMAD3 NM_005902.4(SMAD3):c.789del (p.Ser264fs) DEL Likely Pathogenic
834060 rs1963050712 GRCh37: 15:67473706-67473706
GRCh38: 15:67181368-67181368
17 SMAD3 NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) SNV Likely Pathogenic
930360 rs1555405092 GRCh37: 15:67358493-67358493
GRCh38: 15:67066155-67066155
18 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) SNV Likely Pathogenic
180524 rs730880214 GRCh37: 15:67473780-67473780
GRCh38: 15:67181442-67181442
19 SMAD3 NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) SNV Likely Pathogenic
975879 rs1962537574 GRCh37: 15:67457330-67457330
GRCh38: 15:67164992-67164992
20 SMAD3 NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) SNV Likely Pathogenic
694385 rs1320208623 GRCh37: 15:67477184-67477184
GRCh38: 15:67184846-67184846
21 SMAD3 NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) INDEL Likely Pathogenic
694382 rs1595941823 GRCh37: 15:67457360-67457361
GRCh38: 15:67165022-67165023
22 SMAD3 NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter) SNV Likely Pathogenic
1709587 GRCh37: 15:67477109-67477109
GRCh38: 15:67184771-67184771
23 SMAD3 NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) SNV Likely Pathogenic
803102 rs1595962708 GRCh37: 15:67479787-67479787
GRCh38: 15:67187449-67187449
24 SMAD3 NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
1174530 GRCh37: 15:67358495-67358495
GRCh38: 15:67066157-67066157
25 SMAD3 NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) DEL Likely Pathogenic
1330798 GRCh37: 15:67457633-67457643
GRCh38: 15:67165295-67165305
26 SMAD3 NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) SNV Likely Pathogenic
449264 rs1555414503 GRCh37: 15:67482864-67482864
GRCh38: 15:67190526-67190526
27 SMAD3 NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) SNV Likely Pathogenic
30311 rs387906853 GRCh37: 15:67473635-67473635
GRCh38: 15:67181297-67181297
28 SMAD6 NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) INDEL Uncertain Significance
570546 rs1567116253 GRCh37: 15:67073794-67073795
GRCh38: 15:66781456-66781457
29 SMAD6 NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter) SNV Uncertain Significance
567671 rs1567091529 GRCh37: 15:66995960-66995960
GRCh38: 15:66703622-66703622
30 SMAD6 NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter) SNV Uncertain Significance
576250 rs1290060451 GRCh37: 15:67073759-67073759
GRCh38: 15:66781421-66781421
31 SMAD6 NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg) SNV Uncertain Significance
582152 rs1433694123 GRCh37: 15:66995897-66995897
GRCh38: 15:66703559-66703559
32 SMAD6 NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) SNV Uncertain Significance
405514 rs985309653 GRCh37: 15:66995874-66995874
GRCh38: 15:66703536-66703536
33 SMAD6 NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) SNV Uncertain Significance
471756 rs1409145798 GRCh37: 15:66995598-66995598
GRCh38: 15:66703260-66703260
34 SMAD3 NM_005902.4(SMAD3):c.228G>T (p.Gln76His) SNV Uncertain Significance
268091 rs886041046 GRCh37: 15:67457254-67457254
GRCh38: 15:67164916-67164916
35 SMAD3 NM_005902.4(SMAD3):c.*552G>T SNV Uncertain Significance
316877 rs769408016 GRCh37: 15:67483426-67483426
GRCh38: 15:67191088-67191088
36 SMAD3 NM_005902.4(SMAD3):c.*1819C>T SNV Uncertain Significance
316919 rs886051406 GRCh37: 15:67484693-67484693
GRCh38: 15:67192355-67192355
37 SMAD3 NM_005902.4(SMAD3):c.607+9T>A SNV Uncertain Significance
316861 rs886051380 GRCh37: 15:67459200-67459200
GRCh38: 15:67166862-67166862
38 SMAD3 NM_005902.4(SMAD3):c.*250C>A SNV Uncertain Significance
316867 rs754034578 GRCh37: 15:67483124-67483124
GRCh38: 15:67190786-67190786
39 SMAD3 NM_005902.4(SMAD3):c.*925G>A SNV Uncertain Significance
316890 rs886051389 GRCh37: 15:67483799-67483799
GRCh38: 15:67191461-67191461
40 SMAD6 NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) SNV Uncertain Significance
471745 rs1555440093 GRCh37: 15:67073536-67073536
GRCh38: 15:66781198-66781198
41 SMAD6 NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) SNV Uncertain Significance
471748 rs758115595 GRCh37: 15:67073676-67073676
GRCh38: 15:66781338-66781338
42 SMAD6 NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) SNV Uncertain Significance
471764 rs200004068 GRCh37: 15:67004029-67004029
GRCh38: 15:66711691-66711691
43 SMAD6 NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) SNV Uncertain Significance
471763 rs781458675 GRCh37: 15:66996410-66996410
GRCh38: 15:66704072-66704072
44 SMAD6 NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) SNV Uncertain Significance
539112 rs1239470869 GRCh37: 15:67073827-67073827
GRCh38: 15:66781489-66781489
45 SMAD6 NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) SNV Uncertain Significance
539114 rs1555434180 GRCh37: 15:66995835-66995835
GRCh38: 15:66703497-66703497
46 SMAD6 NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro) SNV Uncertain Significance
539115 rs1416212959 GRCh37: 15:67073787-67073787
GRCh38: 15:66781449-66781449
47 SMAD6 NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp) SNV Uncertain Significance
567088 rs1567091749 GRCh37: 15:66996184-66996184
GRCh38: 15:66703846-66703846
48 SMAD6 NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) SNV Uncertain Significance
568988 rs1567091237 GRCh37: 15:66995685-66995685
GRCh38: 15:66703347-66703347
49 SMAD6 NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu) SNV Uncertain Significance
571024 rs946670694 GRCh37: 15:66996324-66996324
GRCh38: 15:66703986-66703986
50 SMAD6 NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) SNV Uncertain Significance
573082 rs1567091826 GRCh37: 15:66996252-66996252
GRCh38: 15:66703914-66703914

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 SMAD3 p.Thr261Ile VAR_065578 rs387906851
2 SMAD3 p.Arg287Trp VAR_065579 rs387906850
3 SMAD3 p.Glu239Lys VAR_067047 rs387906853
4 SMAD3 p.Arg279Lys VAR_067048 rs387906852
5 SMAD3 p.Ala112Val VAR_067051 rs387906854

Expression for Loeys-Dietz Syndrome 3

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 3.

Pathways for Loeys-Dietz Syndrome 3

Pathways related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ACTA2 EFEMP2 FBN1 MYH11 MYLK SMAD2
2 13.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.67 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4
Show member pathways
13.52 MYLK SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
5
Show member pathways
13.51 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6
Show member pathways
13.46 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
7
Show member pathways
13.35 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
8
Show member pathways
13.07 TGFBR1 TGFB3 TGFB2 FBN1 EFEMP2 ACTA2
9
Show member pathways
12.95 ACTA2 MYH11 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.93 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
11
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
12
Show member pathways
12.82 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
13
Show member pathways
12.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.69 TGFB3 TGFB2 FBN1 EFEMP2
15
Show member pathways
12.59 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
16
Show member pathways
12.48 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
17
Show member pathways
12.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18
Show member pathways
12.42 TGFBR2 TGFBR1 SMAD4 SMAD3
19 12.41 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.35 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
21
Show member pathways
12.34 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
22 12.3 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
23 12.27 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
24 12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
25 12.18 TGFBR2 TGFBR1 SMAD4 SMAD2
26
Show member pathways
12.15 TGFB3 TGFB2 FBN1
27
Show member pathways
12.13 FBN1 SMAD2 SMAD3 SMAD4 TGFBR1 TGFBR2
28
Show member pathways
12.09 SMAD4 SMAD3 SMAD2
29 12.09 SMAD4 SMAD3 SMAD2
30
Show member pathways
12.08 TGFBR2 TGFBR1 SMAD3
31 12.04 TGFBR1 SMAD3 SMAD2
32
Show member pathways
12.01 SMAD2 SMAD3 SMAD4 TGFBR1 TGFBR2
33
Show member pathways
11.98 SMAD2 SMAD3 SMAD4
34
Show member pathways
11.95 SMAD4 SMAD3 SMAD2
35 11.93 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
36 11.89 SMAD3 SMAD2 ACTA2
37
Show member pathways
11.89 TGFB3 TGFB2 FBN1 EFEMP2
38 11.88 TGFB3 TGFB2 ACTA2
39 11.88 SMAD2 SMAD3 SMAD4 TGFBR1 TGFBR2
40
Show member pathways
11.87 TGFB2 SMAD3 SMAD2
41
Show member pathways
11.87 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42 11.86 TGFB3 TGFB2 SMAD3 FBN1
43 11.85 TGFBR1 TGFB3 TGFB2
44 11.77 SMAD4 SMAD3 SMAD2
45 11.75 SMAD4 SMAD3 SMAD2
46
Show member pathways
11.67 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
47 11.66 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48 11.63 TGFBR1 SMAD4 SMAD3
49 11.63 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 SMAD2
50 11.57 TGFBR2 TGFBR1 TGFB2

GO Terms for Loeys-Dietz Syndrome 3

Cellular components related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.85 FBN1 EFEMP2 ACTA2
2 microfibril GO:0001527 9.62 FBN1 EFEMP2
3 transforming growth factor beta ligand-receptor complex GO:0070021 9.56 TGFBR2 TGFBR1
4 activin responsive factor complex GO:0032444 9.46 SMAD4 SMAD2
5 heteromeric SMAD protein complex GO:0071144 9.43 SMAD4 SMAD3 SMAD2
6 SMAD protein complex GO:0071141 9.1 SMAD4 SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.41 ACTA2 SLC2A10 SMAD2 SMAD3 TGFBR1
2 negative regulation of cell population proliferation GO:0008285 10.34 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR2
3 in utero embryonic development GO:0001701 10.33 SMAD2 SMAD3 SMAD4 TGFB3 TGFBR1 TGFBR2
4 response to hypoxia GO:0001666 10.27 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR2
5 anatomical structure morphogenesis GO:0009653 10.26 SMAD4 SMAD3 SMAD2 FBN1
6 heart development GO:0007507 10.26 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
7 regulation of cell population proliferation GO:0042127 10.22 TGFBR2 TGFB3 TGFB2 SMAD4
8 skeletal system development GO:0001501 10.2 FBN1 SMAD3 TGFB2 TGFBR1
9 cellular response to transforming growth factor beta stimulus GO:0071560 10.17 TGFBR1 SMAD3 FBN1
10 positive regulation of stress fiber assembly GO:0051496 10.16 TGFBR1 TGFB3 SMAD3
11 ventricular septum morphogenesis GO:0060412 10.16 TGFBR2 TGFBR1 TGFB2 SMAD4
12 positive regulation of miRNA transcription GO:1902895 10.15 SMAD3 SMAD4 TGFB2
13 kidney development GO:0001822 10.13 TGFBR1 TGFB2 SMAD4 FBN1
14 embryonic cranial skeleton morphogenesis GO:0048701 10.13 TGFBR2 TGFBR1 SMAD3 SMAD2
15 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 10.11 SMAD4 SMAD3 SMAD2
16 outflow tract septum morphogenesis GO:0003148 10.11 TGFBR2 TGFB2 SMAD4
17 SMAD protein signal transduction GO:0060395 10.1 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
18 transforming growth factor beta receptor signaling pathway GO:0007179 10.1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
19 adrenal gland development GO:0030325 10.09 SMAD2 SMAD3 SMAD4
20 cell-cell junction organization GO:0045216 10.08 TGFB3 TGFB2 SMAD3
21 BMP signaling pathway GO:0030509 10.08 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
22 epithelial to mesenchymal transition GO:0001837 10.07 SMAD4 TGFB2 TGFBR1
23 positive regulation of SMAD protein signal transduction GO:0060391 10.07 TGFBR1 TGFB3 SMAD4
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.07 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
25 pathway-restricted SMAD protein phosphorylation GO:0060389 10.06 TGFBR2 TGFBR1 TGFB2
26 developmental growth GO:0048589 10.04 SMAD2 SMAD3 SMAD4
27 response to cholesterol GO:0070723 10.04 TGFBR2 TGFBR1 SMAD2
28 cardiac epithelial to mesenchymal transition GO:0060317 10.02 TGFBR1 TGFB2
29 ventricular trabecula myocardium morphogenesis GO:0003222 10.02 TGFBR1 TGFB2
30 primary miRNA processing GO:0031053 10.02 SMAD3 SMAD2
31 activin receptor signaling pathway GO:0032924 10.02 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
32 atrioventricular valve morphogenesis GO:0003181 10.01 TGFBR2 TGFB2
33 elastic fiber assembly GO:0048251 10.01 MYH11 EFEMP2
34 negative regulation of macrophage cytokine production GO:0010936 10.01 TGFB3 TGFB2
35 nodal signaling pathway GO:0038092 10.01 SMAD3 SMAD2
36 SMAD protein complex assembly GO:0007183 10.01 SMAD4 SMAD3 SMAD2
37 endothelial cell activation GO:0042118 10 SMAD4 TGFBR1
38 embryonic foregut morphogenesis GO:0048617 10 SMAD2 SMAD3
39 pericardium development GO:0060039 10 SMAD2 SMAD3
40 membranous septum morphogenesis GO:0003149 9.99 TGFBR2 TGFB2
41 salivary gland morphogenesis GO:0007435 9.99 TGFB3 TGFB2
42 common-partner SMAD protein phosphorylation GO:0007182 9.99 SMAD2 TGFBR2
43 gastrulation GO:0007369 9.99 SMAD2 SMAD3 SMAD4 TGFBR2
44 aorta smooth muscle tissue morphogenesis GO:0060414 9.97 MYLK EFEMP2
45 endocardial cushion fusion GO:0003274 9.97 TGFBR2 TGFB2
46 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.97 TGFBR2 TGFBR1 TGFB2
47 positive regulation of tight junction disassembly GO:1905075 9.95 TGFBR1 TGFB3
48 endoderm development GO:0007492 9.95 SMAD4 SMAD3 SMAD2
49 paraxial mesoderm morphogenesis GO:0048340 9.93 SMAD3 SMAD2
50 regulation of transforming growth factor beta2 production GO:0032909 9.93 SMAD3 SMAD4 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.91 TGFBR2 TGFBR1 TGFB3
2 R-SMAD binding GO:0070412 9.88 SMAD4 SMAD3 SMAD2
3 type I transforming growth factor beta receptor binding GO:0034713 9.85 TGFBR2 TGFB3 SMAD2
4 co-SMAD binding GO:0070410 9.8 SMAD3 SMAD2
5 type II transforming growth factor beta receptor binding GO:0005114 9.8 TGFB2 TGFB3 TGFBR1
6 transforming growth factor beta receptor activity GO:0005024 9.76 TGFBR2 TGFBR1
7 SMAD binding GO:0046332 9.76 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.65 TGFBR2 TGFBR1
9 type III transforming growth factor beta receptor binding GO:0034714 9.65 TGFBR2 TGFB3 TGFB2
10 I-SMAD binding GO:0070411 9.56 TGFBR1 SMAD4 SMAD3 SMAD2
11 transforming growth factor beta receptor binding GO:0005160 9.17 TGFB3 TGFB2 SMAD3 SMAD2

Sources for Loeys-Dietz Syndrome 3

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
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