MCID: LYS019
MIFTS: 45

Loeys-Dietz Syndrome 1

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 57 53 75 29 6
Loeys-Dietz Aortic Aneurysm Syndrome 57 75 73
Furlong Syndrome 57 75 73
Loeys-Dietz Syndrome Type 1 53 73
Lds1 57 75
Aat5 57 75
Marfanoid Disorder-Craniosynostosis Syndrome 75
Aortic Aneurysm, Familial Thoracic 5; Aat5 57
Aortic Aneurysm, Familial Thoracic 5 57
Familial Thoracic Aortic Aneurysm 5 75
Syndrome, Loeys-Dietz, Type 1 40
Loeys-Dietz Syndrome, Type 2a 73
Ldas 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
uncommon and rare features seen in the most severely affected patients


HPO:

32
loeys-dietz syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 1

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

MalaCards based summary : Loeys-Dietz Syndrome 1, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome and loeys-dietz syndrome 5. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Development EGFR signaling pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include skin, brain and spleen, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 Loeys-Dietz syndrome 1: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit.

Related Diseases for Loeys-Dietz Syndrome 1

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



Diseases related to Loeys-Dietz Syndrome 1

Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

Skeletal Feet:
talipes equinovarus

Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Spine:
scoliosis

Cardiovascular Vascular:
patent ductus arteriosus
ascending aortic dissection
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Skeletal:
joint laxity

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

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Growth Other:
dolichostenomelia (uncommon)

Skin Nails Hair Skin:
velvety texture
translucent skin


Clinical features from OMIM:

609192

Human phenotypes related to Loeys-Dietz Syndrome 1:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 frequent (33%) HP:0000272
2 hypertelorism 32 hallmark (90%) HP:0000316
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 intellectual disability 32 HP:0001249
5 scoliosis 32 frequent (33%) HP:0002650
6 global developmental delay 32 very rare (1%) HP:0001263
7 cleft palate 32 frequent (33%) HP:0000175
8 micrognathia 32 HP:0000347
9 retrognathia 32 frequent (33%) HP:0000278
10 patent ductus arteriosus 32 very rare (1%) HP:0001643
11 atrial septal defect 32 very rare (1%) HP:0001631
12 bicuspid aortic valve 32 HP:0001647
13 arnold-chiari malformation 32 occasional (7.5%) HP:0002308
14 arachnodactyly 32 frequent (33%) HP:0001166
15 disproportionate tall stature 32 occasional (7.5%) HP:0001519
16 mitral valve prolapse 32 HP:0001634
17 ascending aortic dissection 32 frequent (33%) HP:0004933
18 joint laxity 32 frequent (33%) HP:0001388
19 talipes equinovarus 32 frequent (33%) HP:0001762
20 proptosis 32 frequent (33%) HP:0000520
21 craniosynostosis 32 frequent (33%) HP:0001363
22 blue sclerae 32 frequent (33%) HP:0000592
23 abnormality of the sternum 32 frequent (33%) HP:0000766
24 postaxial hand polydactyly 32 HP:0001162
25 bifid uvula 32 frequent (33%) HP:0000193
26 camptodactyly 32 HP:0012385
27 exotropia 32 HP:0000577
28 dermal translucency 32 HP:0010648
29 joint contracture of the hand 32 frequent (33%) HP:0009473
30 pulmonary artery aneurysm 32 HP:0004937
31 soft skin 32 frequent (33%) HP:0000977
32 dilatation of the cerebral artery 32 HP:0004944
33 ascending tubular aorta aneurysm 32 hallmark (90%) HP:0004970
34 generalized arterial tortuosity 32 frequent (33%) HP:0004955
35 descending thoracic aorta aneurysm 32 HP:0004959
36 bicuspid pulmonary valve 32 occasional (7.5%) HP:0005182

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

26 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.33 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.33 TGFBR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.33 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.33 TGFBR1 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.33 TGFBR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.33 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.33 TGFBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.33 TGFBR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.33 TGFBR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.33 TGFBR1 TGFBR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.33 TGFBR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.33 TGFBR1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.33 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 TGFBR2 TGFBR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.98 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.98 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.98 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.98 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.98 TGFBR2 TGFBR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.98 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.98 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.98 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.98 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.98 TGFBR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.98 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.98 TGFBR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.98 TGFBR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.98 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.98 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.98 TGFBR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.98 TGFBR1
35 Decreased viability GR00107-A-1 9.56 TGFBR2
36 Decreased viability GR00221-A-1 9.56 TGFBR1 TGFBR2
37 Decreased viability GR00221-A-3 9.56 TGFBR2
38 Decreased viability GR00221-A-4 9.56 TGFBR1 TGFBR2
39 Decreased viability GR00402-S-2 9.56 TGFBR1 TGFBR2

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 1

Genetic Tests for Loeys-Dietz Syndrome 1

Genetic tests related to Loeys-Dietz Syndrome 1:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 29 TGFBR1

Anatomical Context for Loeys-Dietz Syndrome 1

MalaCards organs/tissues related to Loeys-Dietz Syndrome 1:

41
Skin, Brain, Spleen, Uterus

Publications for Loeys-Dietz Syndrome 1

Articles related to Loeys-Dietz Syndrome 1:

# Title Authors Year
1
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. ( 16283890 )
2005

Variations for Loeys-Dietz Syndrome 1

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

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

ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

6
(show top 50) (show all 238)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR1 NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs121918710 GRCh37 Chromosome 9, 101904965: 101904965
2 TGFBR1 NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs121918710 GRCh38 Chromosome 9, 99142683: 99142683
3 TGFBR1 NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly) single nucleotide variant Pathogenic rs121918711 GRCh37 Chromosome 9, 101908835: 101908835
4 TGFBR1 NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly) single nucleotide variant Pathogenic rs121918711 GRCh38 Chromosome 9, 99146553: 99146553
5 TGFBR1 NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile) single nucleotide variant Pathogenic rs121918712 GRCh37 Chromosome 9, 101900165: 101900165
6 TGFBR1 NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile) single nucleotide variant Pathogenic rs121918712 GRCh38 Chromosome 9, 99137883: 99137883
7 TGFBR1 NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
8 TGFBR1 NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
9 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
10 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh38 Chromosome 9, 99138006: 99138006
11 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
12 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
13 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
14 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh38 Chromosome 9, 99149252: 99149252
15 TGFBR1 NM_004612.3(TGFBR1): c.521G> T (p.Gly174Val) single nucleotide variant Pathogenic rs121918713 GRCh37 Chromosome 9, 101894968: 101894968
16 TGFBR1 NM_004612.3(TGFBR1): c.521G> T (p.Gly174Val) single nucleotide variant Pathogenic rs121918713 GRCh38 Chromosome 9, 99132686: 99132686
17 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh37 Chromosome 3, 30713660: 30713660
18 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh38 Chromosome 3, 30672168: 30672168
19 TGFBR1 NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser) single nucleotide variant Uncertain significance rs141259922 GRCh37 Chromosome 9, 101911508: 101911508
20 TGFBR1 NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser) single nucleotide variant Uncertain significance rs141259922 GRCh38 Chromosome 9, 99149226: 99149226
21 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh37 Chromosome 9, 101867557: 101867565
22 TGFBR1 NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del) deletion Conflicting interpretations of pathogenicity rs11466445 GRCh38 Chromosome 9, 99105275: 99105283
23 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh37 Chromosome 9, 101894862: 101894862
24 TGFBR1 NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh38 Chromosome 9, 99132580: 99132580
25 TGFBR1 NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh38 Chromosome 9, 99132622: 99132622
26 TGFBR1 NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh37 Chromosome 9, 101894904: 101894904
27 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh37 Chromosome 9, 101900132: 101900132
28 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh38 Chromosome 9, 99137850: 99137850
29 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh37 Chromosome 9, 101900179: 101900179
30 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh38 Chromosome 9, 99137897: 99137897
31 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh37 Chromosome 3, 30715678: 30715678
32 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh38 Chromosome 3, 30674186: 30674186
33 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh37 Chromosome 9, 101867445: 101867445
34 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh38 Chromosome 9, 99105163: 99105163
35 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh37 Chromosome 9, 101900232: 101900232
36 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh38 Chromosome 9, 99137950: 99137950
37 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh38 Chromosome 9, 99149236: 99149236
38 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh37 Chromosome 9, 101911518: 101911518
39 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh38 Chromosome 9, 99149374: 99149374
40 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh37 Chromosome 9, 101911656: 101911656
41 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh37 Chromosome 9, 101912296: 101912296
42 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh38 Chromosome 9, 99150014: 99150014
43 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh37 Chromosome 9, 101912770: 101912770
44 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh38 Chromosome 9, 99150488: 99150488
45 TGFBR1 NM_004612.3(TGFBR1): c.*1368C> A single nucleotide variant Uncertain significance rs886063231 GRCh37 Chromosome 9, 101912955: 101912955
46 TGFBR1 NM_004612.3(TGFBR1): c.*1368C> A single nucleotide variant Uncertain significance rs886063231 GRCh38 Chromosome 9, 99150673: 99150673
47 TGFBR1 NM_004612.3(TGFBR1): c.*1924G> T single nucleotide variant Uncertain significance rs886063236 GRCh37 Chromosome 9, 101913511: 101913511
48 TGFBR1 NM_004612.3(TGFBR1): c.*1924G> T single nucleotide variant Uncertain significance rs886063236 GRCh38 Chromosome 9, 99151229: 99151229
49 TGFBR1 NM_004612.3(TGFBR1): c.*2005T> G single nucleotide variant Likely benign rs144216869 GRCh37 Chromosome 9, 101913592: 101913592
50 TGFBR1 NM_004612.3(TGFBR1): c.*2005T> G single nucleotide variant Likely benign rs144216869 GRCh38 Chromosome 9, 99151310: 99151310

Expression for Loeys-Dietz Syndrome 1

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

Pathways for Loeys-Dietz Syndrome 1

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 TGFBR1 TGFBR2
2
Show member pathways
12.11 TGFBR1 TGFBR2
3
Show member pathways
12.08 TGFBR1 TGFBR2
4
Show member pathways
12.08 TGFBR1 TGFBR2
5 12.06 TGFBR1 TGFBR2
6 12.04 TGFBR1 TGFBR2
7
Show member pathways
11.95 TGFBR1 TGFBR2
8
Show member pathways
11.92 TGFBR1 TGFBR2
9
Show member pathways
11.88 TGFBR1 TGFBR2
10 11.85 TGFBR1 TGFBR2
11
Show member pathways
11.83 TGFBR1 TGFBR2
12 11.82 TGFBR1 TGFBR2
13 11.8 TGFBR1 TGFBR2
14 11.79 TGFBR1 TGFBR2
15
Show member pathways
11.76 TGFBR1 TGFBR2
16
Show member pathways
11.73 TGFBR1 TGFBR2
17 11.72 TGFBR1 TGFBR2
18 11.71 TGFBR1 TGFBR2
19
Show member pathways
11.69 TGFBR1 TGFBR2
20 11.68 TGFBR1 TGFBR2
21 11.56 TGFBR1 TGFBR2
22 11.54 TGFBR1 TGFBR2
23
Show member pathways
11.52 TGFBR1 TGFBR2
24 11.46 TGFBR1 TGFBR2
25
Show member pathways
11.41 TGFBR1 TGFBR2
26 11.37 TGFBR1 TGFBR2
27 11.35 TGFBR1 TGFBR2
28
Show member pathways
11.32 TGFBR1 TGFBR2
29 11.22 TGFBR1 TGFBR2
30 11.14 TGFBR1 TGFBR2
31 11.09 TGFBR1 TGFBR2
32 10.85 TGFBR1 TGFBR2
33
Show member pathways
10.85 TGFBR1 TGFBR2
34
Show member pathways
10.75 TGFBR1 TGFBR2
35 10.67 TGFBR1 TGFBR2
36 10.35 TGFBR1 TGFBR2
37 9.95 TGFBR1 TGFBR2

GO Terms for Loeys-Dietz Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.16 TGFBR1 TGFBR2
2 receptor complex GO:0043235 8.96 TGFBR1 TGFBR2
3 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.58 TGFBR1 TGFBR2
2 regulation of gene expression GO:0010468 9.58 TGFBR1 TGFBR2
3 in utero embryonic development GO:0001701 9.57 TGFBR1 TGFBR2
4 peptidyl-serine phosphorylation GO:0018105 9.56 TGFBR1 TGFBR2
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 TGFBR1 TGFBR2
6 wound healing GO:0042060 9.54 TGFBR1 TGFBR2
7 roof of mouth development GO:0060021 9.52 TGFBR1 TGFBR2
8 signal transduction by protein phosphorylation GO:0023014 9.51 TGFBR1 TGFBR2
9 peptidyl-threonine phosphorylation GO:0018107 9.49 TGFBR1 TGFBR2
10 regulation of growth GO:0040008 9.48 TGFBR1 TGFBR2
11 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.46 TGFBR1 TGFBR2
12 positive regulation of epithelial to mesenchymal transition GO:0010718 9.43 TGFBR1 TGFBR2
13 lens development in camera-type eye GO:0002088 9.4 TGFBR1 TGFBR2
14 ventricular septum morphogenesis GO:0060412 9.37 TGFBR1 TGFBR2
15 embryonic cranial skeleton morphogenesis GO:0048701 9.32 TGFBR1 TGFBR2
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.26 TGFBR1 TGFBR2
17 pathway-restricted SMAD protein phosphorylation GO:0060389 9.16 TGFBR1 TGFBR2
18 response to cholesterol GO:0070723 8.96 TGFBR1 TGFBR2
19 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.62 TGFBR1 TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.37 TGFBR1 TGFBR2
2 SMAD binding GO:0046332 9.32 TGFBR1 TGFBR2
3 transforming growth factor beta binding GO:0050431 9.26 TGFBR1 TGFBR2
4 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.16 TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 TGFBR1 TGFBR2
6 transforming growth factor beta-activated receptor activity GO:0005024 8.62 TGFBR1 TGFBR2

Sources for Loeys-Dietz Syndrome 1

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
Content
Loading form....