LDS5
MCID: LYS020
MIFTS: 50

Loeys-Dietz Syndrome 5 (LDS5)

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

Aliases & Classifications for Loeys-Dietz Syndrome 5

MalaCards integrated aliases for Loeys-Dietz Syndrome 5:

Name: Loeys-Dietz Syndrome 5 56 12 73 29 6 15
Rienhoff Syndrome 56 52 73 36 17 71
Lds5 56 12 73
Rnhf 56 12 73
Syndrome, Loeys-Dietz, Type 5 39
Rienhoff Syndrome; Rnhf 56
Reinhoff Syndrome 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
autoimmune manifestations are present in some patients


HPO:

31
loeys-dietz syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 5

OMIM : 56 Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see 609192), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (609192). (615582)

MalaCards based summary : Loeys-Dietz Syndrome 5, also known as rienhoff syndrome, is related to loeys-dietz syndrome and transient hypogammaglobulinemia of infancy. An important gene associated with Loeys-Dietz Syndrome 5 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are MAPK signaling pathway and FoxO signaling pathway. Affiliated tissues include skin and eye, and related phenotypes are smooth philtrum and brachycephaly

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

KEGG : 36 Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.

UniProtKB/Swiss-Prot : 73 Loeys-Dietz syndrome 5: A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.

Related Diseases for Loeys-Dietz Syndrome 5

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 29.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2 transient hypogammaglobulinemia of infancy 10.2 TGFBR2 TGFBR1
3 transient hypogammaglobulinemia 10.2 TGFBR2 TGFBR1
4 eisenmenger syndrome 10.1 TGFBR2 TGFBR1
5 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
6 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.1 TGFBR2 TGFBR1
7 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
8 tuberculoid leprosy 10.1 TGFB3 TGFB2
9 tendinosis 10.1 TGFBR2 TGFB2
10 tracheal stenosis 10.1 TGFB3 FBN1
11 ectopia lentis 1, isolated, autosomal dominant 10.0 TGFBR2 FBN1
12 ectopia lentis 2, isolated, autosomal recessive 10.0 TGFBR2 FBN1
13 camurati-engelmann disease 10.0 TGFBR2 TGFBR1
14 phacogenic glaucoma 9.9 TGFB2 FBN1
15 stiff skin syndrome 9.9 TGFB2 FBN1
16 autosomal dominant non-syndromic intellectual disability 19 9.9 SMAD3 SMAD2
17 vitreous disease 9.9 TGFB2 SMAD2
18 albinism, ocular, with late-onset sensorineural deafness 9.8 SMAD3 SMAD2
19 intracranial aneurysm 9.8 TGFBR2 TGFBR1 TGFB2
20 nephrogenic systemic fibrosis 9.8 SMAD3 SMAD2
21 hereditary hemorrhagic telangiectasia 9.8 TGFBR2 TGFBR1 TGFB2
22 bullous keratopathy 9.8 TGFB3 TGFB2 FBN1
23 aortic valve insufficiency 9.8 TGFBR2 TGFBR1 FBN1
24 keratopathy 9.8 TGFB3 TGFB2 FBN1
25 collagen disease 9.8 TGFBR2 TGFBR1 FBN1
26 mitral valve disease 9.8 TGFB3 TGFB2 FBN1
27 cutis laxa, autosomal dominant 1 9.8 TGFBR2 TGFBR1 FBN1
28 patent ductus arteriosus 1 9.8 TGFBR2 TGFBR1 FBN1
29 peyronie's disease 9.7 TGFB3 TGFB2 SMAD3
30 hypertrophic scars 9.7 TGFB3 SMAD3 SMAD2
31 ureteral disease 9.6 SMAD3 SMAD2
32 renal fibrosis 9.6 TGFBR1 SMAD3 SMAD2
33 cleft palate, isolated 9.6 TGFBR2 TGFBR1 TGFB3 TGFB2
34 spastic paraplegia 3, autosomal dominant 9.6 TGFB2 SMAD3 SMAD2
35 telangiectasis 9.6 TGFBR1 FBN1
36 clear cell adenocarcinoma 9.5 SMAD3 SMAD2
37 marfan syndrome 9.5 TGFBR2 TGFBR1 TGFB2 FBN1
38 craniosynostosis 9.3 TGFBR2 TGFBR1 SMAD3 FBN1
39 pulmonary hypertension 9.3 TGFBR2 TGFBR1 SMAD3 SMAD2
40 cataract 9.3 TGFBR2 TGFB3 TGFB2 FBN1
41 squamous cell carcinoma, head and neck 9.2 TGFBR2 TGFBR1 SMAD3 SMAD2
42 pulmonary fibrosis, idiopathic 9.1 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
43 osteoporosis 9.0 TGFBR1 TGFB2 SMAD3 SMAD2
44 arterial tortuosity syndrome 9.0 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
45 connective tissue disease 9.0 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
46 heritable thoracic aortic disease 8.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
47 aortic disease 8.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
48 tricuspid valve prolapse 8.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
49 aortic aneurysm 8.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
50 aneurysm 8.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 5:



Diseases related to Loeys-Dietz Syndrome 5

Symptoms & Phenotypes for Loeys-Dietz Syndrome 5

Human phenotypes related to Loeys-Dietz Syndrome 5:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 31 occasional (7.5%) HP:0000319
2 brachycephaly 31 occasional (7.5%) HP:0000248
3 ptosis 31 occasional (7.5%) HP:0000508
4 motor delay 31 occasional (7.5%) HP:0001270
5 talipes equinovarus 31 occasional (7.5%) HP:0001762
6 dolichocephaly 31 occasional (7.5%) HP:0000268
7 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
8 spondylolisthesis 31 occasional (7.5%) HP:0003302
9 long face 31 occasional (7.5%) HP:0000276
10 ventricular septal defect 31 occasional (7.5%) HP:0001629
11 bruising susceptibility 31 occasional (7.5%) HP:0000978
12 osteoarthritis 31 occasional (7.5%) HP:0002758
13 midface retrusion 31 occasional (7.5%) HP:0011800
14 cerebral hemorrhage 31 occasional (7.5%) HP:0001342
15 aortic regurgitation 31 occasional (7.5%) HP:0001659
16 patent foramen ovale 31 occasional (7.5%) HP:0001655
17 broad face 31 occasional (7.5%) HP:0000283
18 cervical spine instability 31 occasional (7.5%) HP:0010646
19 hypertelorism 31 very rare (1%) HP:0000316
20 pes planus 31 very rare (1%) HP:0001763
21 pectus excavatum 31 very rare (1%) HP:0000767
22 kyphoscoliosis 31 very rare (1%) HP:0002751
23 arachnodactyly 31 very rare (1%) HP:0001166
24 ascending aortic dissection 31 very rare (1%) HP:0004933
25 tall stature 31 very rare (1%) HP:0000098
26 bifid uvula 31 very rare (1%) HP:0000193
27 inguinal hernia 31 HP:0000023
28 pectus carinatum 31 HP:0000768
29 neonatal hypotonia 31 HP:0001319
30 short stature 31 HP:0004322
31 decreased muscle mass 31 HP:0003199
32 high palate 31 HP:0000218
33 retrognathia 31 HP:0000278
34 mitral regurgitation 31 HP:0001653
35 joint hypermobility 31 HP:0001382
36 proptosis 31 HP:0000520
37 hyporeflexia 31 HP:0001265
38 blue sclerae 31 HP:0000592
39 hiatus hernia 31 HP:0002036
40 small for gestational age 31 HP:0001518
41 exotropia 31 HP:0000577
42 increased arm span 31 HP:0012771
43 bilateral coxa valga 31 HP:0010665
44 eosinophilic infiltration of the esophagus 31 HP:0410151

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate

Skeletal Hands:
arachnodactyly
bilateral contractures of fingers (rare)
palmar flexion, transient postnatal (rare)

Growth Height:
tall stature
short stature (rare)

Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)
mitral insufficiency
aortic insufficiency, mild (rare)
patent foramen ovale (rare)
more
Cardiovascular Vascular:
aortic root dilation
aneurysm of abdominal aorta
varices
aneurysm of thoracic aorta
aneurysmal dissection or rupture
more
Head And Neck Head:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Skin Nails Hair Skin:
easy bruising (in some patients)
thin translucent skin (in some patients)
soft velvety skin (in some patients)

Growth Other:
growth retardation (rare)

Skeletal:
osteoarthritis, early onset (in some patients)

Muscle Soft Tissue:
subcutaneous fat markedly reduced (in some patients)
decreased muscle mass (in some patients)

Head And Neck Eyes:
hypertelorism
exotropia
ptosis (rare)
downslanting palpebral fissures (in some patients)
blue sclerae (in some patients)
more
Skeletal Feet:
pes planus
clubfeet (in some patients)
camptodactyly of toes (in some patients)
pes adductus, transient postnatal (rare)

Skeletal Spine:
kyphoscoliosis
spondylolisthesis (rare)
cervical spine instability (rare)

Skeletal Limbs:
joint hypermobility
increased arm span

Head And Neck Face:
retrognathia, mild
long face (in some patients)
smooth philtrum (rare)
wide face (rare)
midface hypoplasia (rare)

Chest Diaphragm:
hiatal hernia

Neurologic Central Nervous System:
delayed motor development (in some patients)
congenital hypotonia, mild (in some patients)
cerebral hemorrhage (rare)

Skeletal Skull:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Growth Weight:
low birth weight (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapulae alata (rare)

Skeletal Pelvis:
bilateral coxa valga (rare)

Clinical features from OMIM:

615582

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

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

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 5:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ACOT11 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
2 cardiovascular system MP:0005385 10.07 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
3 growth/size/body region MP:0005378 10.01 ACOT11 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
4 embryo MP:0005380 10 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
5 craniofacial MP:0005382 9.97 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR2
6 digestive/alimentary MP:0005381 9.95 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
7 homeostasis/metabolism MP:0005376 9.92 ACOT11 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
8 endocrine/exocrine gland MP:0005379 9.91 FBN1 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
9 hematopoietic system MP:0005397 9.91 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
10 immune system MP:0005387 9.86 ACOT11 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
11 nervous system MP:0003631 9.7 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
12 respiratory system MP:0005388 9.43 FBN1 SMAD2 TGFB2 TGFB3 TGFBR1 TGFBR2
13 skeleton MP:0005390 9.17 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1

Drugs & Therapeutics for Loeys-Dietz Syndrome 5

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 5

Genetic Tests for Loeys-Dietz Syndrome 5

Genetic tests related to Loeys-Dietz Syndrome 5:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 5 29 TGFB3

Anatomical Context for Loeys-Dietz Syndrome 5

MalaCards organs/tissues related to Loeys-Dietz Syndrome 5:

40
Skin, Eye

Publications for Loeys-Dietz Syndrome 5

Articles related to Loeys-Dietz Syndrome 5:

(show all 13)
# Title Authors PMID Year
1
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 6 56
25835445 2015
2
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 56 6
24798638 2014
3
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 56 6
23824657 2013
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). 6
25173340 2014
5
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
6
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 6
18781618 2008
7
Loeys-Dietz Syndrome 6
20301312 2008
8
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 6
16799921 2006
9
N-Cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry. 56
10807574 2000
10
Transforming Growth Factor Beta3 is Required for Cardiovascular Development. 61
32456345 2020
11
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features. 61
32022420 2020
12
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 61
26184463 2015
13
Midterm outcome of valve-sparing aortic root replacement in inherited connective tissue disorders. 61
22051261 2011

Variations for Loeys-Dietz Syndrome 5

ClinVar genetic disease variations for Loeys-Dietz Syndrome 5:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFB3 NM_003239.4(TGFB3):c.321dup (p.Phe108fs)duplication Pathogenic 441282 rs1555361385 14:76446915-76446916 14:75980572-75980573
2 TGFB3 NM_003239.4(TGFB3):c.1226G>A (p.Cys409Tyr)SNV Pathogenic 91862 rs398122984 14:76425543-76425543 14:75959200-75959200
3 TGFB3 NM_003239.4(TGFB3):c.754+2T>CSNV Pathogenic 203489 rs875989816 14:76431929-76431929 14:75965586-75965586
4 TGFB3 NM_003239.4(TGFB3):c.704del (p.Asn235fs)deletion Pathogenic 203491 rs875989817 14:76431981-76431981 14:75965638-75965638
5 TGFB3 NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp)SNV Pathogenic/Likely pathogenic 203490 rs796051885 14:76429687-76429687 14:75963344-75963344
6 TGFB3 NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln)SNV Pathogenic/Likely pathogenic 143945 rs587777617 14:76429686-76429686 14:75963343-75963343
7 TGFB3 NM_003239.4(TGFB3):c.927-1G>CSNV Likely pathogenic 487471 rs767548724 14:76427420-76427420 14:75961077-75961077
8 TGFB3 NM_003239.4(TGFB3):c.464G>A (p.Arg155Gln)SNV Uncertain significance 575813 rs925224125 14:76437950-76437950 14:75971607-75971607
9 TGFB3 NM_003239.4(TGFB3):c.787G>C (p.Asp263His)SNV Uncertain significance 203492 rs796051886 14:76429798-76429798 14:75963455-75963455
10 TGFB3 NM_003239.4(TGFB3):c.412T>G (p.Ser138Ala)SNV Uncertain significance 239520 rs201453600 14:76438002-76438002 14:75971659-75971659
11 TGFB3 NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr)SNV Uncertain significance 410276 rs762643638 14:76427381-76427381 14:75961038-75961038

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 TGFB3 p.Cys409Tyr VAR_070924 rs398122984

Expression for Loeys-Dietz Syndrome 5

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 5.

Pathways for Loeys-Dietz Syndrome 5

Pathways related to Loeys-Dietz Syndrome 5 according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 FoxO signaling pathway hsa04068
3 Cell cycle hsa04110
4 TGF-beta signaling pathway hsa04350
5 Hippo signaling pathway hsa04390

Pathways related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2
Show member pathways
13.55 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3
Show member pathways
13.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4
Show member pathways
13.26 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
5
Show member pathways
13.17 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
6
Show member pathways
13.01 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
7
Show member pathways
12.92 TGFBR1 TGFB3 TGFB2 FBN1
8
Show member pathways
12.85 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9 12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10
Show member pathways
12.8 TGFBR2 TGFBR1 TGFB3 TGFB2
11
Show member pathways
12.75 TGFBR2 TGFBR1 TGFB3 TGFB2
12
Show member pathways
12.74 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
13
Show member pathways
12.73 TGFBR2 TGFBR1 SMAD3 SMAD2
14 12.66 TGFBR2 TGFBR1 TGFB3 TGFB2
15
Show member pathways
12.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16
Show member pathways
12.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
17 12.36 TGFBR2 TGFBR1 SMAD3 SMAD2
18 12.35 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
19 12.33 TGFB3 TGFB2 SMAD3 SMAD2
20
Show member pathways
12.26 TGFBR2 TGFBR1 SMAD3 SMAD2
21 12.25 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
22
Show member pathways
12.23 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
23
Show member pathways
12.21 TGFBR2 TGFBR1 SMAD3
24 12.19 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
25 12.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
26 12.13 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
27
Show member pathways
12.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
28 12.08 TGFBR2 TGFBR1 SMAD3 SMAD2
29 12.06 TGFBR2 TGFBR1 SMAD2
30 12.01 TGFBR1 SMAD3 SMAD2
31 11.97 TGFBR2 TGFBR1 TGFB2
32
Show member pathways
11.91 TGFBR2 TGFBR1 SMAD3 SMAD2
33 11.85 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
34
Show member pathways
11.82 TGFBR2 TGFBR1 SMAD3 SMAD2
35 11.81 TGFBR1 TGFB3 TGFB2
36 11.78 TGFBR2 TGFBR1 SMAD3 SMAD2
37 11.78 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
38
Show member pathways
11.76 TGFBR2 TGFBR1 SMAD3 SMAD2
39
Show member pathways
11.72 TGFB3 TGFB2 FBN1
40 11.72 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
41 11.7 TGFBR2 TGFBR1 SMAD3
42
Show member pathways
11.69 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
43 11.67 TGFBR2 TGFBR1 SMAD3 SMAD2
44
Show member pathways
11.57 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
45 11.54 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
46 11.53 TGFBR2 TGFBR1 TGFB2
47 11.39 SMAD3 SMAD2
48 11.38 TGFBR1 SMAD3
49 11.34 TGFBR1 SMAD3
50
Show member pathways
11.28 TGFB3 TGFB2

GO Terms for Loeys-Dietz Syndrome 5

Cellular components related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.33 TGFBR2 TGFBR1 SMAD3
2 SMAD protein complex GO:0071141 8.96 SMAD3 SMAD2
3 heteromeric SMAD protein complex GO:0071144 8.62 SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.01 TGFBR1 TGFB3 SMAD3 SMAD2
2 protein phosphorylation GO:0006468 10.01 TGFBR2 TGFBR1 TGFB2 SMAD2
3 positive regulation of cell proliferation GO:0008284 10 TGFBR2 TGFBR1 TGFB3 TGFB2
4 negative regulation of cell proliferation GO:0008285 9.96 TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
5 protein deubiquitination GO:0016579 9.91 TGFBR1 SMAD3 SMAD2
6 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
7 regulation of cell proliferation GO:0042127 9.89 TGFBR2 TGFB3 TGFB2
8 response to hypoxia GO:0001666 9.89 TGFBR2 TGFB3 TGFB2 SMAD3
9 in utero embryonic development GO:0001701 9.89 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
10 cell cycle arrest GO:0007050 9.86 TGFBR1 TGFB2 SMAD3
11 kidney development GO:0001822 9.85 TGFBR1 TGFB2 FBN1
12 skeletal system development GO:0001501 9.85 TGFBR1 TGFB2 SMAD3 FBN1
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.81 TGFBR1 SMAD3 FBN1
14 positive regulation of stress fiber assembly GO:0051496 9.79 TGFBR1 TGFB3 SMAD3
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 TGFBR1 TGFB3 TGFB2
16 ventricular septum morphogenesis GO:0060412 9.77 TGFBR2 TGFBR1 TGFB2
17 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
18 SMAD protein signal transduction GO:0060395 9.76 TGFB3 TGFB2 SMAD3 SMAD2
19 collagen fibril organization GO:0030199 9.74 TGFBR1 TGFB2
20 positive regulation of cell division GO:0051781 9.74 TGFB3 TGFB2
21 positive regulation of protein secretion GO:0050714 9.74 TGFB3 TGFB2
22 extrinsic apoptotic signaling pathway GO:0097191 9.74 TGFB2 SMAD3
23 lens development in camera-type eye GO:0002088 9.74 TGFBR2 TGFBR1
24 epithelial to mesenchymal transition GO:0001837 9.74 TGFBR1 TGFB2
25 response to progesterone GO:0032570 9.74 TGFB3 TGFB2
26 gastrulation GO:0007369 9.74 TGFBR2 SMAD3 SMAD2
27 ureteric bud development GO:0001657 9.73 SMAD3 SMAD2
28 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.73 TGFB2 SMAD3
29 positive regulation of bone mineralization GO:0030501 9.73 TGFB3 SMAD3
30 odontogenesis GO:0042476 9.73 TGFB3 TGFB2
31 positive regulation of epithelial cell migration GO:0010634 9.73 TGFBR2 TGFB2
32 mesoderm formation GO:0001707 9.72 SMAD3 SMAD2
33 digestive tract development GO:0048565 9.72 TGFBR2 TGFB3
34 endoderm development GO:0007492 9.72 SMAD3 SMAD2
35 positive regulation of filopodium assembly GO:0051491 9.72 TGFBR1 TGFB3
36 developmental growth GO:0048589 9.71 SMAD3 SMAD2
37 embryonic pattern specification GO:0009880 9.71 SMAD3 SMAD2
38 outflow tract septum morphogenesis GO:0003148 9.71 TGFBR2 TGFB2
39 cell-cell junction organization GO:0045216 9.71 TGFB3 TGFB2 SMAD3
40 embryonic cranial skeleton morphogenesis GO:0048701 9.71 TGFBR2 TGFBR1 SMAD3 SMAD2
41 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.7 SMAD3 SMAD2
42 adrenal gland development GO:0030325 9.7 SMAD3 SMAD2
43 signal transduction involved in regulation of gene expression GO:0023019 9.7 SMAD3 SMAD2
44 pathway-restricted SMAD protein phosphorylation GO:0060389 9.7 TGFBR2 TGFBR1 TGFB2
45 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 TGFBR2 TGFBR1
46 ventricular trabecula myocardium morphogenesis GO:0003222 9.69 TGFBR1 TGFB2
47 positive regulation of SMAD protein signal transduction GO:0060391 9.69 TGFBR1 TGFB3
48 cardiac epithelial to mesenchymal transition GO:0060317 9.68 TGFBR1 TGFB2
49 atrioventricular valve morphogenesis GO:0003181 9.68 TGFBR2 TGFB2
50 nodal signaling pathway GO:0038092 9.67 SMAD3 SMAD2

Molecular functions related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 R-SMAD binding GO:0070412 9.55 SMAD3 SMAD2
2 activin binding GO:0048185 9.54 TGFBR2 TGFBR1
3 enhancer binding GO:0035326 9.52 SMAD3 SMAD2
4 co-SMAD binding GO:0070410 9.51 SMAD3 SMAD2
5 transforming growth factor beta binding GO:0050431 9.5 TGFBR2 TGFBR1 TGFB3
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR2 TGFBR1
7 I-SMAD binding GO:0070411 9.48 TGFBR1 SMAD2
8 primary miRNA binding GO:0070878 9.46 SMAD3 SMAD2
9 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
10 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFBR2 TGFB3 SMAD2
11 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.4 SMAD3 SMAD2
12 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB3 TGFB2
13 type II transforming growth factor beta receptor binding GO:0005114 9.33 TGFBR1 TGFB3 TGFB2
14 SMAD binding GO:0046332 9.26 TGFBR2 TGFBR1 SMAD3 SMAD2
15 transforming growth factor beta receptor binding GO:0005160 8.92 TGFB3 TGFB2 SMAD3 SMAD2

Sources for Loeys-Dietz Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....