LDS3
MCID: LYS021
MIFTS: 57

Loeys-Dietz Syndrome 3 (LDS3)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Name: Loeys-Dietz Syndrome 3 58 12 76 30 6 15 74
Loeys-Dietz Syndrome with Osteoarthritis 58 12 54 76
Aneurysms-Osteoarthritis Syndrome 58 12 54 76
Lds3 58 12 54 76
Aneurysm-Osteoarthritis Syndrome 54 60
Loeys-Dietz Syndrome, Type 3 54 13
Lds1c 12 76
Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly 58
Loeys-Dietz Syndrome, Type 1c, Formerly 58
Aneurysm - Osteoarthritis Syndrome 54
Syndrome, Loeys-Dietz, Type 3 41
Loeys-Dietz Syndrome Type 1c 12
Loeys-Dietz Syndrome Type 3 54
Loeys-Dietz Syndrome 1c 76
Lds1c, Formerly 58
Aos 76

Characteristics:

Orphanet epidemiological data:

60
aneurysm-osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
loeys-dietz syndrome 3:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 3

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 284984Disease definitionA 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. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to aortic aneurysm, familial thoracic 1 and loeys-dietz syndrome. 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 Integrin Pathway. Affiliated tissues include heart, skin and bone, and related phenotypes are pes planus and dilatation of the sinus of valsalva

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the SMAD3 gene on chromosome 15q.

UniProtKB/Swiss-Prot : 76 Loeys-Dietz syndrome 3: 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 mental retardation.

Description from OMIM: 613795

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

Diseases related to Loeys-Dietz Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 1 28.6 ACTA2 COL3A1 FBN1 MYH11 SMAD3 TGFBR1
2 loeys-dietz syndrome 28.3 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
3 aortic aneurysm 27.1 ACTA2 COL3A1 FBN1 LOX MYH11 MYLK
4 adams-oliver syndrome 11.9
5 adams-oliver syndrome 1 11.8
6 atelosteogenesis, type ii 11.4
7 adams-oliver syndrome 5 11.2
8 oliver syndrome 11.2
9 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.1
10 aplasia cutis congenita, nonsyndromic 11.0
11 supravalvular aortic stenosis 11.0
12 aortic valve disease 2 11.0
13 adams-oliver syndrome 4 11.0
14 adams-oliver syndrome 6 11.0
15 progressive non-fluent aphasia 11.0
16 osteoarthritis 10.3
17 transient hypogammaglobulinemia 10.3 TGFBR1 TGFBR2
18 cutis laxa, autosomal recessive, type ic 10.3 TGFBR1 TGFBR2
19 scar contracture 10.1 ACTA2 ILK
20 subclavian artery aneurysm 10.1 MYH11 TGFBR2
21 tricuspid valve prolapse 10.1 FBN1 SMAD3
22 ovarian cancer 10.1
23 loeys-dietz syndrome 2 10.1 MYH11 TGFBR2
24 intraductal papilloma 10.1 MYH11 PRKG1
25 craniosynostosis 10.1 SMAD6 TGFBR1 TGFBR2
26 aortic aneurysm, familial thoracic 2 10.0 ACTA2 FBN1
27 loeys-dietz syndrome 4 10.0 SMAD3 TGFB2 TGFBR1 TGFBR2
28 stiff skin syndrome 10.0 FBN1 TGFB2
29 spinal cord injury 10.0
30 atelosteogenesis 10.0
31 compartment syndrome 10.0
32 pathologic nystagmus 10.0
33 allergic encephalomyelitis 10.0
34 dental pulp calcification 10.0 FBN1 TGFBR2
35 hypermobile ehlers-danlos syndrome 10.0 FBN1 ILK
36 multiple self-healing squamous epithelioma 10.0 TGFBR1 TGFBR2
37 intracranial hypotension 10.0
38 spontaneous intracranial hypotension 10.0
39 aortic aneurysm, familial thoracic 6 9.9 ACTA2 MYH11 MYLK
40 blood group, langereis system 9.9
41 radin blood group antigen 9.9
42 exudative vitreoretinopathy 1 9.9
43 hypertension, essential 9.9
44 meniere disease 9.9
45 osteoporosis 9.9
46 pick disease of brain 9.9
47 rheumatoid arthritis 9.9
48 schizophrenia 9.9
49 spondylolisthesis 9.9
50 asthma 9.9

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:

60 33 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 60 33 very rare (1%) Very frequent (99-80%) HP:0001763
2 dilatation of the sinus of valsalva 60 33 hallmark (90%) Very frequent (99-80%) HP:0011645
3 malar flattening 60 33 very rare (1%) Frequent (79-30%) HP:0000272
4 hypertelorism 60 33 very rare (1%) Frequent (79-30%) HP:0000316
5 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
6 scoliosis 60 33 very rare (1%) Frequent (79-30%) HP:0002650
7 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
8 dental malocclusion 60 33 very rare (1%) Frequent (79-30%) HP:0000689
9 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
10 atypical scarring of skin 60 33 frequent (33%) Frequent (79-30%) HP:0000987
11 aortic dissection 60 33 frequent (33%) Frequent (79-30%) HP:0002647
12 arterial dissection 60 33 frequent (33%) Frequent (79-30%) HP:0005294
13 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
14 mitral regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0001653
15 striae distensae 60 33 very rare (1%) Frequent (79-30%) HP:0001065
16 arachnodactyly 60 33 very rare (1%) Frequent (79-30%) HP:0001166
17 chronic fatigue 60 33 very rare (1%) Frequent (79-30%) HP:0012432
18 protrusio acetabuli 60 33 very rare (1%) Frequent (79-30%) HP:0003179
19 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
20 bruising susceptibility 60 33 very rare (1%) Frequent (79-30%) HP:0000978
21 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
22 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
23 aortic regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0001659
24 dilatation of the cerebral artery 60 33 frequent (33%) Frequent (79-30%) HP:0004944
25 uterine prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0000139
26 arterial tortuosity 60 33 very rare (1%) Frequent (79-30%) HP:0005116
27 osteoarthritis of the small joints of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0004268
28 knee osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0005086
29 abnormality of bladder morphology 60 33 frequent (33%) Frequent (79-30%) HP:0025487
30 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
31 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
32 osteoporosis 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000939
33 cleft palate 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000175
34 retrognathia 60 33 very rare (1%) Occasional (29-5%) HP:0000278
35 patent ductus arteriosus 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001643
36 joint laxity 60 33 very rare (1%) Occasional (29-5%) HP:0001388
37 left ventricular hypertrophy 60 33 very rare (1%) Occasional (29-5%) HP:0001712
38 disproportionate tall stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0001519
39 dural ectasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100775
40 spondylolisthesis 60 33 very rare (1%) Occasional (29-5%) HP:0003302
41 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
42 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
43 atrial fibrillation 60 33 very rare (1%) Occasional (29-5%) HP:0005110
44 intervertebral disc degeneration 60 33 very rare (1%) Occasional (29-5%) HP:0008419
45 osteochondritis dissecans 60 33 occasional (7.5%) Occasional (29-5%) HP:0010886
46 abdominal aortic aneurysm 33 very rare (1%) HP:0005112
47 craniosynostosis 60 33 very rare (1%) Excluded (0%) HP:0001363
48 cataract 33 very rare (1%) HP:0000518
49 dolichocephaly 33 very rare (1%) HP:0000268
50 talipes equinovarus 33 very rare (1%) HP:0001762

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
knee osteoarthritis
osteochondritis dissecans
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)

Skeletal Spine:
scoliosis
dural ectasia
spondylolisthesis
intervertebral disc degeneration
facet joint osteoarthritis
more
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

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

27 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.43 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.43 ILK
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.43 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.43 TGFB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.43 PRKG1 TGFBR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.43 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.43 TGFBR1 TGFBR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.43 TGFBR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.43 ILK
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.43 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.43 TGFBR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.43 ILK
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.43 PRKG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.43 TGFBR1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.43 TGFB2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.43 ILK
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.43 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.43 TGFB2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.43 ILK PRKG1 TGFB2 TGFBR1 TGFBR2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.43 TGFB2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.43 TGFB2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.43 PRKG1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.43 TGFBR1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.43 TGFBR2
25 Decreased viability GR00107-A-1 10.37 TGFBR2
26 Decreased viability GR00221-A-1 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
27 Decreased viability GR00221-A-2 10.37 COL3A1 ILK PRKG1
28 Decreased viability GR00221-A-3 10.37 ILK TGFBR2
29 Decreased viability GR00221-A-4 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
30 Decreased viability GR00301-A 10.37 ILK PRKG1
31 Decreased viability GR00402-S-2 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
32 Decreased cell migration GR00055-A-1 9.62 ILK LIMS1 MYLK PRKG1
33 Decreased substrate adherent cell growth GR00193-A-2 9.46 ILK PRKG1 TGFBR1
34 Decreased substrate adherent cell growth GR00193-A-3 9.46 ILK
35 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 ACTA2 COL3A1 FBN1 ILK LIMS1 LOX
2 homeostasis/metabolism MP:0005376 10.25 APRT COL3A1 FBN1 ILK LIMS1 LOX
3 cellular MP:0005384 10.19 COL3A1 FBN1 ILK LIMS1 MYH11 PRKG1
4 growth/size/body region MP:0005378 10.17 APRT COL3A1 FBN1 ILK LIMS1 MYH11
5 digestive/alimentary MP:0005381 10.13 COL3A1 ILK MYH11 MYLK PRKG1 SMAD3
6 mortality/aging MP:0010768 10.1 APRT COL3A1 FBN1 ILK LIMS1 LOX
7 immune system MP:0005387 10.07 APRT COL3A1 FBN1 ILK MYLK PRKG1
8 embryo MP:0005380 10 FBN1 ILK LIMS1 SMAD3 TGFB2 TGFBR1
9 muscle MP:0005369 9.97 ACTA2 COL3A1 FBN1 ILK LIMS1 LOX
10 integument MP:0010771 9.92 APRT COL3A1 FBN1 ILK LOX MYH11
11 renal/urinary system MP:0005367 9.56 APRT FBN1 ILK MYH11 MYLK PRKG1
12 respiratory system MP:0005388 9.28 COL3A1 FBN1 ILK LIMS1 LOX MYH11

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 Loeys-Dietz Syndrome 3 30 SMAD3

Anatomical Context for Loeys-Dietz Syndrome 3

MalaCards organs/tissues related to Loeys-Dietz Syndrome 3:

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

Publications for Loeys-Dietz Syndrome 3

Articles related to Loeys-Dietz Syndrome 3:

# Title Authors Year
1
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )
2017
2
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). ( 25173340 )
2014
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. ( 22167769 )
2012
7
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. ( 21778426 )
2011
8
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. ( 21217753 )
2011
9
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. ( 21815248 )
2011

Variations for Loeys-Dietz Syndrome 3

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

76
# 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

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMAD3 NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906850 GRCh37 Chromosome 15, 67473779: 67473779
2 SMAD3 NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906850 GRCh38 Chromosome 15, 67181441: 67181441
3 SMAD3 NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs) deletion Pathogenic rs587776880 GRCh38 Chromosome 15, 67181323: 67181324
4 SMAD3 NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs) deletion Pathogenic rs587776880 GRCh37 Chromosome 15, 67473661: 67473662
5 SMAD3 NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile) single nucleotide variant Pathogenic rs387906851 GRCh37 Chromosome 15, 67473702: 67473702
6 SMAD3 NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile) single nucleotide variant Pathogenic rs387906851 GRCh38 Chromosome 15, 67181364: 67181364
7 SMAD3 NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs) deletion Pathogenic rs587776881 GRCh38 Chromosome 15, 67170599: 67170599
8 SMAD3 NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs) deletion Pathogenic rs587776881 GRCh37 Chromosome 15, 67462937: 67462937
9 SMAD3 NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys) single nucleotide variant Pathogenic rs387906852 GRCh37 Chromosome 15, 67473756: 67473756
10 SMAD3 NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys) single nucleotide variant Pathogenic rs387906852 GRCh38 Chromosome 15, 67181418: 67181418
11 SMAD3 NM_005902.3(SMAD3): c.715G> A (p.Glu239Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs387906853 GRCh37 Chromosome 15, 67473635: 67473635
12 SMAD3 NM_005902.3(SMAD3): c.715G> A (p.Glu239Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs387906853 GRCh38 Chromosome 15, 67181297: 67181297
13 SMAD3 NM_005902.3(SMAD3): c.335C> T (p.Ala112Val) single nucleotide variant Uncertain significance rs387906854 GRCh37 Chromosome 15, 67457361: 67457361
14 SMAD3 NM_005902.3(SMAD3): c.335C> T (p.Ala112Val) single nucleotide variant Uncertain significance rs387906854 GRCh38 Chromosome 15, 67165023: 67165023
15 SMAD3 NM_005902.3(SMAD3): c.313delG (p.Ala105Profs) deletion Pathogenic rs587776882 GRCh38 Chromosome 15, 67165001: 67165001
16 SMAD3 NM_005902.3(SMAD3): c.313delG (p.Ala105Profs) deletion Pathogenic rs587776882 GRCh37 Chromosome 15, 67457339: 67457339
17 SMAD3 NM_005902.3(SMAD3): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs387906855 GRCh37 Chromosome 15, 67473708: 67473708
18 SMAD3 NM_005902.3(SMAD3): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs387906855 GRCh38 Chromosome 15, 67181370: 67181370
19 SMAD3 NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter) single nucleotide variant Pathogenic rs387906856 GRCh37 Chromosome 15, 67479774: 67479774
20 SMAD3 NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter) single nucleotide variant Pathogenic rs387906856 GRCh38 Chromosome 15, 67187436: 67187436
21 SMAD3 NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln) single nucleotide variant Uncertain significance rs375574124 GRCh37 Chromosome 15, 67457645: 67457645
22 SMAD3 NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln) single nucleotide variant Uncertain significance rs375574124 GRCh38 Chromosome 15, 67165307: 67165307
23 SMAD6 NM_005585.4(SMAD6): c.120C> A (p.Gly40=) single nucleotide variant Benign rs149612008 GRCh38 Chromosome 15, 66703378: 66703378
24 SMAD6 NM_005585.4(SMAD6): c.120C> A (p.Gly40=) single nucleotide variant Benign rs149612008 GRCh37 Chromosome 15, 66995716: 66995716
25 SMAD6 NM_005585.4(SMAD6): c.120C> T (p.Gly40=) single nucleotide variant Benign rs149612008 GRCh38 Chromosome 15, 66703378: 66703378
26 SMAD6 NM_005585.4(SMAD6): c.120C> T (p.Gly40=) single nucleotide variant Benign rs149612008 GRCh37 Chromosome 15, 66995716: 66995716
27 SMAD6 NM_005585.4(SMAD6): c.264C> G (p.Gly88=) single nucleotide variant Likely benign rs547033777 GRCh38 Chromosome 15, 66703522: 66703522
28 SMAD6 NM_005585.4(SMAD6): c.264C> G (p.Gly88=) single nucleotide variant Likely benign rs547033777 GRCh37 Chromosome 15, 66995860: 66995860
29 SMAD6 NM_005585.4(SMAD6): c.447C> T (p.Ala149=) single nucleotide variant Benign rs181184476 GRCh37 Chromosome 15, 66996043: 66996043
30 SMAD6 NM_005585.4(SMAD6): c.447C> T (p.Ala149=) single nucleotide variant Benign rs181184476 GRCh38 Chromosome 15, 66703705: 66703705
31 SMAD6 NM_005585.4(SMAD6): c.817+9G> C single nucleotide variant Benign rs200726236 GRCh38 Chromosome 15, 66704084: 66704084
32 SMAD6 NM_005585.4(SMAD6): c.817+9G> C single nucleotide variant Benign rs200726236 GRCh37 Chromosome 15, 66996422: 66996422
33 SMAD6 NM_005585.4(SMAD6): c.909G> A (p.Thr303=) single nucleotide variant Benign rs139719094 GRCh37 Chromosome 15, 67008793: 67008793
34 SMAD6 NM_005585.4(SMAD6): c.909G> A (p.Thr303=) single nucleotide variant Benign rs139719094 GRCh38 Chromosome 15, 66716455: 66716455
35 SMAD3 NM_005902.3(SMAD3): c.228G> T (p.Gln76His) single nucleotide variant Uncertain significance rs886041046 GRCh37 Chromosome 15, 67457254: 67457254
36 SMAD3 NM_005902.3(SMAD3): c.228G> T (p.Gln76His) single nucleotide variant Uncertain significance rs886041046 GRCh38 Chromosome 15, 67164916: 67164916
37 SMAD6 NM_005585.4(SMAD6): c.194C> G (p.Pro65Arg) single nucleotide variant Uncertain significance rs990598927 GRCh38 Chromosome 15, 66703452: 66703452
38 SMAD6 NM_005585.4(SMAD6): c.194C> G (p.Pro65Arg) single nucleotide variant Uncertain significance rs990598927 GRCh37 Chromosome 15, 66995790: 66995790
39 SMAD6 NM_005585.4(SMAD6): c.711C> T (p.His237=) single nucleotide variant Benign rs144415105 GRCh38 Chromosome 15, 66703969: 66703969
40 SMAD6 NM_005585.4(SMAD6): c.711C> T (p.His237=) single nucleotide variant Benign rs144415105 GRCh37 Chromosome 15, 66996307: 66996307
41 SMAD6 NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly) single nucleotide variant Likely benign rs200004068 GRCh38 Chromosome 15, 66711691: 66711691
42 SMAD6 NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly) single nucleotide variant Likely benign rs200004068 GRCh37 Chromosome 15, 67004029: 67004029
43 SMAD6 NM_005585.4(SMAD6): c.1167C> T (p.Phe389=) single nucleotide variant Benign rs12591946 GRCh38 Chromosome 15, 66781211: 66781211
44 SMAD6 NM_005585.4(SMAD6): c.1167C> T (p.Phe389=) single nucleotide variant Benign rs12591946 GRCh37 Chromosome 15, 67073549: 67073549
45 SMAD6 NM_005585.4(SMAD6): c.75C> T (p.Gly25=) single nucleotide variant Uncertain significance rs755856670 GRCh37 Chromosome 15, 66995671: 66995671
46 SMAD6 NM_005585.4(SMAD6): c.75C> T (p.Gly25=) single nucleotide variant Uncertain significance rs755856670 GRCh38 Chromosome 15, 66703333: 66703333
47 SMAD6 NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu) single nucleotide variant Uncertain significance rs566777509 GRCh38 Chromosome 15, 66703548: 66703548
48 SMAD6 NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu) single nucleotide variant Uncertain significance rs566777509 GRCh37 Chromosome 15, 66995886: 66995886
49 SMAD6 NM_005585.4(SMAD6): c.956C> T (p.Ala319Val) single nucleotide variant Likely benign rs148705603 GRCh38 Chromosome 15, 66781000: 66781000
50 SMAD6 NM_005585.4(SMAD6): c.956C> T (p.Ala319Val) single nucleotide variant Likely benign rs148705603 GRCh37 Chromosome 15, 67073338: 67073338

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 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACTA2 COL3A1 FBN1 ILK LIMS1 MYH11
2
Show member pathways
13.28 ACTA2 COL3A1 FBN1 MYH11 MYLK TGFB2
3
Show member pathways
13.21 ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFBR1
4
Show member pathways
13.02 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
5
Show member pathways
12.99 ACTA2 COL3A1 FBN1 TGFB2 TGFBR1
6
Show member pathways
12.97 ACTA2 COL3A1 PRKG1 SMAD3 TGFBR1 TGFBR2
7
Show member pathways
12.81 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
8
Show member pathways
12.81 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
9
Show member pathways
12.7 ACTA2 ILK MYH11 PRKG1 TGFB2 TGFBR1
10
Show member pathways
12.67 COL3A1 FBN1 LOX TGFB2
11
Show member pathways
12.66 ACTA2 MYH11 MYLK PRKG1
12
Show member pathways
12.58 ACTA2 ILK LIMS1 MYH11 MYLK
13
Show member pathways
12.52 SMAD3 TGFB2 TGFBR1 TGFBR2
14
Show member pathways
12.44 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
15
Show member pathways
12.42 SMAD3 TGFB2 TGFBR1 TGFBR2
16 12.31 SMAD3 TGFB2 TGFBR1 TGFBR2
17
Show member pathways
12.18 SMAD3 TGFB2 TGFBR1 TGFBR2
18
Show member pathways
12.17 ACTA2 COL3A1 FBN1 MYH11 MYLK
19 12.13 SMAD3 TGFB2 TGFBR1 TGFBR2
20 12.11 SMAD3 TGFB2 TGFBR1 TGFBR2
21
Show member pathways
12.08 MYLK PRKG1 TGFBR1
22 12.08 SMAD3 TGFB2 TGFBR1 TGFBR2
23 12.07 SMAD6 TGFBR1 TGFBR2
24
Show member pathways
12.04 SMAD3 TGFBR1 TGFBR2
25
Show member pathways
12.02 SMAD3 TGFB2 TGFBR1 TGFBR2
26 12 SMAD3 TGFBR1 TGFBR2
27
Show member pathways
12 SMAD3 TGFB2 TGFBR1 TGFBR2
28 12 ACTA2 MYLK SMAD3 TGFBR1
29 11.98 TGFB2 TGFBR1 TGFBR2
30 11.96 COL3A1 MYLK PRKG1
31
Show member pathways
11.96 SMAD3 TGFB2 TGFBR1 TGFBR2
32 11.94 ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
33
Show member pathways
11.82 SMAD3 TGFBR1 TGFBR2
34 11.79 SMAD3 TGFB2 TGFBR1 TGFBR2
35
Show member pathways
11.7 FBN1 LOX TGFB2
36 11.69 SMAD3 TGFBR1 TGFBR2
37 11.68 SMAD3 TGFBR1 TGFBR2
38
Show member pathways
11.67 SMAD3 TGFBR1 TGFBR2
39 11.56 ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
40 11.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
41 11.53 SMAD3 TGFBR1 TGFBR2
42 11.5 TGFB2 TGFBR1 TGFBR2
43 11.47 SMAD3 SMAD6 TGFBR1 TGFBR2
44 11.45 TGFB2 TGFBR1 TGFBR2
45
Show member pathways
11.41 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
46 11.32 ACTA2 MYH11 MYLK
47 11.3 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
48
Show member pathways
11.15 TGFBR1 TGFBR2
49 11.12 TGFBR1 TGFBR2
50 11.03 SMAD3 TGFB2 TGFBR1 TGFBR2

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 cytosol GO:0005829 9.65 ACTA2 APRT ILK LIMS1 MYH11 MYLK
2 protein-containing complex GO:0032991 9.02 ACTA2 ILK LIMS1 SMAD3 SMAD6

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 SMAD3 SMAD6 TGFB2 TGFBR2
2 positive regulation of gene expression GO:0010628 9.99 ACTA2 LIMS1 SMAD3 TGFBR1
3 positive regulation of cell migration GO:0030335 9.9 ILK MYLK SMAD3 TGFBR1
4 peptidyl-serine phosphorylation GO:0018105 9.86 ILK TGFBR1 TGFBR2
5 kidney development GO:0001822 9.84 FBN1 TGFB2 TGFBR1
6 cell cycle arrest GO:0007050 9.84 ILK SMAD3 TGFB2 TGFBR1
7 muscle contraction GO:0006936 9.83 ACTA2 MYH11 MYLK
8 skeletal system development GO:0001501 9.8 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
9 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.78 SMAD3 SMAD6 TGFBR1 TGFBR2
10 ventricular septum morphogenesis GO:0060412 9.74 TGFB2 TGFBR1 TGFBR2
11 epithelial to mesenchymal transition GO:0001837 9.73 LIMS1 TGFB2 TGFBR1
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.73 FBN1 LIMS1 SMAD3 TGFBR1
13 embryonic cranial skeleton morphogenesis GO:0048701 9.72 SMAD3 TGFBR1 TGFBR2
14 positive regulation of focal adhesion assembly GO:0051894 9.7 LIMS1 SMAD3
15 cell-cell junction organization GO:0045216 9.69 SMAD3 TGFB2
16 outflow tract septum morphogenesis GO:0003148 9.69 SMAD6 TGFB2 TGFBR2
17 aorta development GO:0035904 9.68 LOX SMAD6
18 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 TGFBR1 TGFBR2
19 cell junction assembly GO:0034329 9.68 ILK LIMS1
20 smooth muscle contraction GO:0006939 9.67 MYH11 MYLK
21 activin receptor signaling pathway GO:0032924 9.67 SMAD3 TGFBR1
22 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 TGFB2 TGFBR1
23 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.67 SMAD3 SMAD6 TGFB2
24 collagen fibril organization GO:0030199 9.67 COL3A1 LOX TGFB2 TGFBR1
25 regulation of epithelial cell proliferation GO:0050678 9.65 LIMS1 SMAD3
26 negative regulation of immune response GO:0050777 9.65 COL3A1 TGFB2
27 pulmonary valve morphogenesis GO:0003184 9.64 SMAD6 TGFB2
28 secondary palate development GO:0062009 9.64 TGFB2 TGFBR2
29 cardiac epithelial to mesenchymal transition GO:0060317 9.63 TGFB2 TGFBR1
30 supramolecular fiber organization GO:0097435 9.63 COL3A1 ILK
31 pathway-restricted SMAD protein phosphorylation GO:0060389 9.63 TGFB2 TGFBR1 TGFBR2
32 heart development GO:0007507 9.63 COL3A1 FBN1 LOX TGFB2 TGFBR1 TGFBR2
33 atrioventricular valve morphogenesis GO:0003181 9.62 TGFB2 TGFBR2
34 membranous septum morphogenesis GO:0003149 9.62 TGFB2 TGFBR2
35 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD3 TGFB2 TGFBR1 TGFBR2
36 response to cholesterol GO:0070723 9.61 TGFBR1 TGFBR2
37 elastic fiber assembly GO:0048251 9.61 LOX MYH11
38 aorta smooth muscle tissue morphogenesis GO:0060414 9.59 COL3A1 MYLK
39 endocardial cushion fusion GO:0003274 9.58 TGFB2 TGFBR2
40 regulation of transforming growth factor beta2 production GO:0032909 9.58 SMAD3 TGFB2
41 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.43 TGFB2 TGFBR1 TGFBR2
42 transforming growth factor beta receptor signaling pathway GO:0007179 9.43 COL3A1 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
43 wound healing GO:0042060 9.1 COL3A1 LOX SMAD3 TGFB2 TGFBR1 TGFBR2
44 phosphorylation GO:0016310 10.05 ILK MYLK PRKG1 TGFBR1 TGFBR2
45 protein phosphorylation GO:0006468 10 ILK MYLK PRKG1 TGFB2 TGFBR1 TGFBR2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 ILK MYLK PRKG1 TGFBR1 TGFBR2
2 ATP binding GO:0005524 9.8 ACTA2 ILK MYH11 MYLK PRKG1 TGFBR1
3 protein kinase activity GO:0004672 9.72 ILK MYLK PRKG1 TGFBR1 TGFBR2
4 integrin binding GO:0005178 9.69 COL3A1 FBN1 ILK
5 R-SMAD binding GO:0070412 9.54 SMAD3 SMAD6
6 transforming growth factor beta binding GO:0050431 9.52 TGFBR1 TGFBR2
7 transforming growth factor beta-activated receptor activity GO:0005024 9.49 TGFBR1 TGFBR2
8 co-SMAD binding GO:0070410 9.46 SMAD3 SMAD6
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 TGFBR1 TGFBR2
10 type I transforming growth factor beta receptor binding GO:0034713 9.4 SMAD6 TGFBR2
11 I-SMAD binding GO:0070411 9.37 SMAD6 TGFBR1
12 protein serine/threonine kinase activity GO:0004674 9.35 ILK MYLK PRKG1 TGFBR1 TGFBR2
13 type II transforming growth factor beta receptor binding GO:0005114 9.16 TGFB2 TGFBR1
14 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2
15 protein binding GO:0005515 10.36 COL3A1 FBN1 ILK LIMS1 LOX MYH11

Sources for Loeys-Dietz Syndrome 3

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
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