LDS3
MCID: LYS021
MIFTS: 54

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 57 12 75 29 6 15 73
Loeys-Dietz Syndrome with Osteoarthritis 57 12 53 75
Aneurysms-Osteoarthritis Syndrome 57 12 53 75
Lds3 57 12 53 75
Aneurysm-Osteoarthritis Syndrome 53 59
Loeys-Dietz Syndrome, Type 3 53 13
Lds1c 12 75
Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly 57
Loeys-Dietz Syndrome, Type 1c, Formerly 57
Aneurysm - Osteoarthritis Syndrome 53
Syndrome, Loeys-Dietz, Type 3 40
Loeys-Dietz Syndrome Type 1c 12
Loeys-Dietz Syndrome Type 3 53
Loeys-Dietz Syndrome 1c 75
Lds1c, Formerly 57
Aos 75

Characteristics:

Orphanet epidemiological data:

59
aneurysm-osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
loeys-dietz syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to osteoporosis 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 bone, skin and eye, and related phenotypes are hypertelorism and high palate

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

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 77)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 29.5 LOX SMAD3 TGFB2 TGFBR1
2 loeys-dietz syndrome 28.9 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
3 aortic aneurysm, familial thoracic 1 28.5 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
4 aortic aneurysm 28.0 ACTA2 COL3A1 FBN1 LOX MYH11 MYLK
5 adams-oliver syndrome 11.9
6 adams-oliver syndrome 1 11.7
7 atelosteogenesis, type ii 11.4
8 adams-oliver syndrome 5 11.2
9 oliver syndrome 11.2
10 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.1
11 aplasia cutis congenita, nonsyndromic 11.0
12 supravalvular aortic stenosis 11.0
13 aortic valve disease 2 11.0
14 adams-oliver syndrome 4 11.0
15 adams-oliver syndrome 6 11.0
16 progressive non-fluent aphasia 11.0
17 osteoarthritis 10.3
18 transient hypogammaglobulinemia 10.2 TGFBR1 TGFBR2
19 cutis laxa, autosomal recessive, type ic 10.2 TGFBR1 TGFBR2
20 ovarian cancer 10.1
21 asthma 10.1
22 multiple self-healing squamous epithelioma 10.1 TGFBR1 TGFBR2
23 subclavian artery aneurysm 10.1 MYH11 TGFBR2
24 scar contracture 10.1 ACTA2 ILK
25 loeys-dietz syndrome 2 10.1 MYH11 TGFBR2
26 craniosynostosis 10.1 SMAD6 TGFBR1 TGFBR2
27 intraductal papilloma 10.1 MYH11 PRKG1
28 eisenmenger syndrome 10.0 TGFBR1 TGFBR2
29 spinal cord injury 10.0
30 atelosteogenesis 10.0
31 compartment syndrome 10.0
32 autosomal recessive cutis laxa type i 10.0 LOX TGFBR1 TGFBR2
33 tricuspid valve prolapse 10.0 FBN1 SMAD3
34 aortic aneurysm, familial thoracic 2 10.0 ACTA2 FBN1
35 loeys-dietz syndrome 4 10.0 SMAD3 TGFB2 TGFBR1 TGFBR2
36 aortic aneurysm, familial thoracic 6 10.0 ACTA2 MYH11 MYLK
37 peyronie's disease 10.0 SMAD3 TGFB2
38 intracranial hypotension 10.0
39 spontaneous intracranial hypotension 10.0
40 stiff skin syndrome 9.9 FBN1 TGFB2
41 dental pulp calcification 9.9 FBN1 TGFBR2
42 fish-eye disease 9.9
43 pick disease of brain 9.9
44 rheumatoid arthritis 9.9
45 leukemia, chronic myeloid 9.9
46 malaria 9.9
47 bone mineral density quantitative trait locus 8 9.9
48 bone mineral density quantitative trait locus 15 9.9
49 angina pectoris 9.9
50 pulmonary hypertension 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
osteochondritis dissecans
long bone overgrowth (dolichostenomelia)
knee osteoarthritis
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:
left ventricular hypertrophy
mitral valve prolapse
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

Human phenotypes related to Loeys-Dietz Syndrome 3:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 high palate 32 HP:0000218
3 scoliosis 32 HP:0002650
4 inguinal hernia 32 HP:0000023
5 dental malocclusion 32 HP:0000689
6 umbilical hernia 32 HP:0001537
7 pes planus 32 HP:0001763
8 osteoporosis 32 occasional (7.5%) HP:0000939
9 cleft palate 32 occasional (7.5%) HP:0000175
10 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
11 aortic dissection 32 HP:0002647
12 joint laxity 32 HP:0001388
13 mitral regurgitation 32 HP:0001653
14 left ventricular hypertrophy 32 HP:0001712
15 striae distensae 32 HP:0001065
16 arachnodactyly 32 HP:0001166
17 mitral valve prolapse 32 HP:0001634
18 protrusio acetabuli 32 HP:0003179
19 dural ectasia 32 HP:0100775
20 spondylolisthesis 32 HP:0003302
21 bruising susceptibility 32 HP:0000978
22 pulmonic stenosis 32 occasional (7.5%) HP:0001642
23 abnormality of the sternum 32 HP:0000766
24 atrial fibrillation 32 HP:0005110
25 aortic regurgitation 32 HP:0001659
26 camptodactyly 32 HP:0012385
27 aortic aneurysm 32 HP:0004942
28 intervertebral disc degeneration 32 HP:0008419
29 uterine prolapse 32 HP:0000139
30 arterial tortuosity 32 HP:0005116
31 hip osteoarthritis 32 HP:0008843
32 osteochondritis dissecans 32 HP:0010886
33 knee osteoarthritis 32 HP:0005086

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

26 (show all 38)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.51 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.51 ILK
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.51 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.51 TGFB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.51 PRKG1 TGFBR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.51 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.51 TGFBR1 TGFBR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.51 TGFBR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.51 ILK
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.51 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.51 TGFBR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 ILK
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 PRKG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.51 TGFBR1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.51 TGFB2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.51 ILK
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.51 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.51 TGFB2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.51 ILK PRKG1 TGFB2 TGFBR1 TGFBR2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.51 TGFBR2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.51 TGFB2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.51 TGFB2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.51 PRKG1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.51 TGFBR1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.51 TGFBR2
26 Decreased viability GR00107-A-1 10.37 TGFBR2
27 Decreased viability GR00221-A-1 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
28 Decreased viability GR00221-A-2 10.37 COL3A1 ILK PRKG1
29 Decreased viability GR00221-A-3 10.37 ILK TGFBR2
30 Decreased viability GR00221-A-4 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
31 Decreased viability GR00301-A 10.37 ILK PRKG1
32 Decreased viability GR00402-S-2 10.37 COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
33 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.65 MYH11 MYLK PRKG1
34 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.65 MYLK PRKG1
35 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.54 MYH11 MYLK PRKG1
36 Decreased substrate adherent cell growth GR00193-A-2 9.46 ILK PRKG1 TGFBR1
37 Decreased substrate adherent cell growth GR00193-A-3 9.46 ILK
38 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ACTA2 COL3A1 FBN1 ILK LOX MYH11
2 homeostasis/metabolism MP:0005376 10.25 APRT COL3A1 FBN1 ILK LOX MYH11
3 growth/size/body region MP:0005378 10.18 APRT COL3A1 FBN1 ILK MYH11 MYLK
4 cellular MP:0005384 10.16 COL3A1 FBN1 ILK MYH11 PRKG1 SMAD3
5 digestive/alimentary MP:0005381 10.15 COL3A1 ILK MYH11 MYLK PRKG1 SMAD3
6 mortality/aging MP:0010768 10.13 APRT COL3A1 FBN1 ILK LOX MYH11
7 immune system MP:0005387 10.1 APRT COL3A1 FBN1 ILK MYLK PRKG1
8 hematopoietic system MP:0005397 10.06 APRT FBN1 ILK PRKG1 SMAD3 TGFB2
9 muscle MP:0005369 10.03 ACTA2 COL3A1 FBN1 ILK LOX MYH11
10 integument MP:0010771 9.97 APRT COL3A1 FBN1 ILK LOX MYH11
11 renal/urinary system MP:0005367 9.76 APRT FBN1 ILK MYH11 MYLK PRKG1
12 respiratory system MP:0005388 9.56 COL3A1 FBN1 ILK LOX MYH11 TGFB2
13 skeleton MP:0005390 9.17 FBN1 ILK MYLK SMAD3 TGFB2 TGFBR1

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 29 SMAD3

Anatomical Context for Loeys-Dietz Syndrome 3

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

41
Bone, Skin, Eye, Brain, 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

Variations for Loeys-Dietz Syndrome 3

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

75
# 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 156)
# 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 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 ACTA2 COL3A1 FBN1 ILK MYH11 MYLK
2
Show member pathways
13.23 ACTA2 COL3A1 FBN1 MYH11 MYLK TGFB2
3
Show member pathways
13.2 ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFBR1
4
Show member pathways
12.98 ACTA2 COL3A1 FBN1 TGFB2 TGFBR1
5
Show member pathways
12.96 ACTA2 COL3A1 PRKG1 SMAD3 TGFBR1 TGFBR2
6
Show member pathways
12.93 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
7
Show member pathways
12.8 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
8
Show member pathways
12.8 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
9
Show member pathways
12.7 ACTA2 ILK MYH11 PRKG1 TGFB2 TGFBR1
10
Show member pathways
12.68 SMAD3 TGFB2 TGFBR1 TGFBR2
11
Show member pathways
12.67 COL3A1 FBN1 LOX TGFB2
12
Show member pathways
12.65 ACTA2 MYH11 MYLK PRKG1
13
Show member pathways
12.56 ACTA2 ILK MYH11 MYLK
14
Show member pathways
12.52 SMAD3 TGFB2 TGFBR1 TGFBR2
15
Show member pathways
12.44 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
16
Show member pathways
12.42 SMAD3 TGFB2 TGFBR1 TGFBR2
17 12.38 SMAD3 TGFB2 TGFBR1 TGFBR2
18
Show member pathways
12.18 SMAD3 TGFB2 TGFBR1 TGFBR2
19
Show member pathways
12.17 ACTA2 COL3A1 FBN1 MYH11 MYLK
20 12.16 SMAD3 TGFB2 TGFBR1
21 12.14 SMAD3 TGFB2 TGFBR1 TGFBR2
22 12.12 SMAD3 TGFB2 TGFBR1 TGFBR2
23
Show member pathways
12.09 MYLK PRKG1 TGFBR1
24 12.09 SMAD3 TGFB2 TGFBR1 TGFBR2
25 12.07 SMAD6 TGFBR1 TGFBR2
26
Show member pathways
12.04 SMAD3 TGFBR1 TGFBR2
27
Show member pathways
12.02 SMAD3 TGFB2 TGFBR1 TGFBR2
28 12.01 ACTA2 MYLK SMAD3 TGFBR1
29 12 SMAD3 TGFBR1 TGFBR2
30
Show member pathways
12 SMAD3 TGFB2 TGFBR1 TGFBR2
31 11.98 TGFB2 TGFBR1 TGFBR2
32
Show member pathways
11.98 SMAD3 TGFB2 TGFBR1 TGFBR2
33 11.96 COL3A1 MYLK PRKG1
34 11.91 ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
35
Show member pathways
11.82 SMAD3 TGFBR1 TGFBR2
36 11.79 SMAD3 TGFB2 TGFBR1 TGFBR2
37
Show member pathways
11.7 FBN1 LOX TGFB2
38 11.69 SMAD3 TGFBR1 TGFBR2
39 11.68 SMAD3 TGFBR1 TGFBR2
40
Show member pathways
11.67 SMAD3 TGFBR1 TGFBR2
41
Show member pathways
11.66 LOX SMAD3 TGFBR1 TGFBR2
42 11.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
43 11.53 SMAD3 TGFBR1 TGFBR2
44 11.53 ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
45 11.52 SMAD3 SMAD6 TGFBR1 TGFBR2
46 11.5 TGFB2 TGFBR1 TGFBR2
47 11.46 TGFB2 TGFBR1 TGFBR2
48
Show member pathways
11.41 ILK SMAD3 TGFB2 TGFBR1 TGFBR2
49 11.33 ACTA2 MYH11 MYLK
50 11.3 ACTA2 MYLK 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 lamellipodium GO:0030027 9.13 ACTA2 ILK MYLK
2 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 ILK MYLK PRKG1 TGFB2 TGFBR1 TGFBR2
2 negative regulation of cell proliferation GO:0008285 9.98 SMAD3 SMAD6 TGFB2 TGFBR2
3 positive regulation of cell migration GO:0030335 9.89 ILK MYLK SMAD3 TGFBR1
4 response to hypoxia GO:0001666 9.86 SMAD3 TGFB2 TGFBR2
5 peptidyl-serine phosphorylation GO:0018105 9.85 ILK TGFBR1 TGFBR2
6 kidney development GO:0001822 9.83 FBN1 TGFB2 TGFBR1
7 muscle contraction GO:0006936 9.83 ACTA2 MYH11 MYLK
8 cell cycle arrest GO:0007050 9.83 ILK SMAD3 TGFB2 TGFBR1
9 skeletal system development GO:0001501 9.8 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
10 cellular response to transforming growth factor beta stimulus GO:0071560 9.76 FBN1 SMAD3 TGFBR1
11 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.76 SMAD3 SMAD6 TGFBR1 TGFBR2
12 ventricular septum morphogenesis GO:0060412 9.72 TGFB2 TGFBR1 TGFBR2
13 embryonic cranial skeleton morphogenesis GO:0048701 9.71 SMAD3 TGFBR1 TGFBR2
14 cell-cell junction organization GO:0045216 9.68 SMAD3 TGFB2
15 aorta development GO:0035904 9.67 LOX SMAD6
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 TGFBR1 TGFBR2
17 smooth muscle contraction GO:0006939 9.67 MYH11 MYLK
18 outflow tract septum morphogenesis GO:0003148 9.67 SMAD6 TGFB2 TGFBR2
19 collagen fibril organization GO:0030199 9.67 COL3A1 LOX TGFB2 TGFBR1
20 activin receptor signaling pathway GO:0032924 9.66 SMAD3 TGFBR1
21 ventricular trabecula myocardium morphogenesis GO:0003222 9.66 TGFB2 TGFBR1
22 negative regulation of immune response GO:0050777 9.65 COL3A1 TGFB2
23 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 SMAD3 SMAD6 TGFB2
24 pulmonary valve morphogenesis GO:0003184 9.64 SMAD6 TGFB2
25 secondary palate development GO:0062009 9.64 TGFB2 TGFBR2
26 cardiac epithelial to mesenchymal transition GO:0060317 9.63 TGFB2 TGFBR1
27 heart development GO:0007507 9.63 COL3A1 FBN1 LOX TGFB2 TGFBR1 TGFBR2
28 supramolecular fiber organization GO:0097435 9.62 COL3A1 ILK
29 atrioventricular valve morphogenesis GO:0003181 9.62 TGFB2 TGFBR2
30 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD3 TGFB2 TGFBR1 TGFBR2
31 membranous septum morphogenesis GO:0003149 9.61 TGFB2 TGFBR2
32 response to cholesterol GO:0070723 9.61 TGFBR1 TGFBR2
33 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 TGFB2 TGFBR1 TGFBR2
34 elastic fiber assembly GO:0048251 9.6 LOX MYH11
35 aorta smooth muscle tissue morphogenesis GO:0060414 9.58 COL3A1 MYLK
36 endocardial cushion fusion GO:0003274 9.57 TGFB2 TGFBR2
37 regulation of transforming growth factor beta2 production GO:0032909 9.56 SMAD3 TGFB2
38 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.43 TGFB2 TGFBR1 TGFBR2
39 transforming growth factor beta receptor signaling pathway GO:0007179 9.43 COL3A1 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
40 wound healing GO:0042060 9.1 COL3A1 LOX SMAD3 TGFB2 TGFBR1 TGFBR2
41 phosphorylation GO:0016310 10.03 ILK MYLK PRKG1 TGFBR1 TGFBR2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 ILK MYLK PRKG1 TGFBR1 TGFBR2
2 protein kinase activity GO:0004672 9.72 ILK MYLK PRKG1 TGFBR1 TGFBR2
3 ATP binding GO:0005524 9.7 ACTA2 ILK MYH11 MYLK PRKG1 TGFBR1
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 9.26 TGFB2 TGFBR1
14 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2

Sources for Loeys-Dietz Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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