LDS2
MCID: LYS018
MIFTS: 55

Loeys-Dietz Syndrome 2 (LDS2)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 57 11 19 73 28 5 14
Marfan Syndrome Type 2 58 73 71
Lds2 57 11 73
Aat3 57 11 73
Aortic Aneurysm, Familial Thoracic 3 57 71
Loeys-Dietz Syndrome Type 2 19 71
Marfan Syndrome Type Ii 11 75
Mfs2 58 73
Aneurysm, Aortic, Thoracic, Familial, Type 3 38
Thoracic Aortic Aneurysms and Dissection 2 73
Familial Aortic Aneurysm Thoracic Type 3 73
Familial Throacic Aortic Aneurysm 3 11
Marfan Syndrome, Type Ii, Formerly 57
Loeys-Dietz Syndrome, Type 2 38
Taad2 73

Characteristics:


Inheritance:

Loeys-Dietz Syndrome 2: Autosomal dominant 57
Marfan Syndrome Type 2: Autosomal dominant 58

Age Of Onset:

Marfan Syndrome Type 2: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity (see )
uncommon and rare features seen in the most severely affected patients


Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Loeys-Dietz Syndrome 2, also known as marfan syndrome type 2, is related to marfan syndrome and cleft palate, isolated. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Signal Transduction and Toll-like receptor signaling pathway. Affiliated tissues include bone, eye and uterus, and related phenotypes are inguinal hernia and umbilical hernia

Disease Ontology: 11 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

Wikipedia: 75 Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

More information from OMIM: 610168 PS607086,PS609192

Related Diseases for Loeys-Dietz Syndrome 2

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5 Loeys-Dietz Syndrome 6

Diseases related to Loeys-Dietz Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 29.4 TGFBR2 TGFBR1 TGFB2 FBN1
2 cleft palate, isolated 29.3 TGFBR2 TGFBR1 TGFB2 FBN1
3 aortic dissection 29.0 TGFBR1 TGFB2 SMAD3 FBN1
4 loeys-dietz syndrome 1 28.9 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
5 aortic aneurysm 28.9 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
6 orthostatic intolerance 28.9 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
7 aortic aneurysm, familial thoracic 4 28.8 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
8 aortic aneurysm, familial thoracic 1 28.8 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
9 loeys-dietz syndrome 28.5 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1 CAPN14
10 ectopia lentis 2, isolated, autosomal recessive 10.1 TGFBR2 FBN1
11 ectopia lentis 1, isolated, autosomal dominant 10.1 TGFBR2 FBN1
12 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
13 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
14 mitral valve insufficiency 10.0
15 connective tissue disease 10.0
16 deafness, autosomal recessive 28 10.0 TRIO TPRN
17 myxofibrosarcoma 10.0
18 subclavian artery aneurysm 10.0 TGFBR2 TGFBR1 FBN1
19 tricuspid valve prolapse 10.0 TGFBR2 TGFBR1 FBN1
20 hypermobility syndrome 10.0 FBN1 CAPN14
21 mitochondrial dna depletion syndrome 12b 10.0 TGFBR2 TGFBR1 FBN1
22 aortic valve insufficiency 10.0 TGFBR2 TGFBR1 FBN1
23 contractural arachnodactyly, congenital 9.9 TGFBR2 TGFBR1 FBN1
24 collagen disease 9.9 TGFBR2 TGFBR1 FBN1
25 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9
26 cutis laxa, autosomal dominant 1 9.9 TGFBR2 TGFBR1 FBN1
27 inguinal hernia 9.9 TGFBR2 TGFBR1 FBN1
28 phacogenic glaucoma 9.8 TGFB2 FBN1
29 camurati-engelmann disease 9.8 TGFBR2 TGFBR1 TGFB2
30 bullous keratopathy 9.8 TGFB2 FBN1
31 stickler syndrome, type i 9.8 SMAD3 FBN1
32 mitral valve disease 9.7 TGFBR2 TGFBR1 TGFB2 FBN1
33 craniosynostosis 9.5 TGFBR2 TGFBR1 SMAD3 FBN1
34 renal fibrosis 9.5 TGFBR1 TGFB2 SMAD3
35 hereditary hemorrhagic telangiectasia 9.4 TGFBR2 TGFBR1 TGFB2 SMAD3
36 interstitial lung disease 2 9.4 TGFBR2 TGFBR1 TGFB2 SMAD3
37 cataract 9.3 TGFBR2 TGFBR1 TGFB2 FBN1
38 loeys-dietz syndrome 5 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
39 loeys-dietz syndrome 3 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
40 loeys-dietz syndrome 4 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
41 arterial tortuosity syndrome 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
42 patent ductus arteriosus 1 9.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
43 aortic disease 9.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
44 orofacial cleft 9.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
45 ehlers-danlos syndrome 9.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
46 aortic valve disease 1 9.2 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
47 lipoprotein quantitative trait locus 9.2 TGFBR2 TGFB2 SMAD3 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 2:



Diseases related to Loeys-Dietz Syndrome 2

Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Human phenotypes related to Loeys-Dietz Syndrome 2:

30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 30 Occasional (7.5%) HP:0000023
2 umbilical hernia 30 Occasional (7.5%) HP:0001537
3 osteoporosis 30 Occasional (7.5%) HP:0000939
4 syndactyly 30 Occasional (7.5%) HP:0001159
5 absent distal phalanges 30 Occasional (7.5%) HP:0005807
6 intellectual disability 30 Very rare (1%) HP:0001249
7 scoliosis 30 Very rare (1%) HP:0002650
8 hydrocephalus 30 Very rare (1%) HP:0000238
9 global developmental delay 30 Very rare (1%) HP:0001263
10 hypertelorism 30 Very rare (1%) HP:0000316
11 retrognathia 30 Very rare (1%) HP:0000278
12 atrial septal defect 30 Very rare (1%) HP:0001631
13 bicuspid aortic valve 30 Very rare (1%) HP:0001647
14 joint laxity 30 Very rare (1%) HP:0001388
15 mitral valve prolapse 30 Very rare (1%) HP:0001634
16 talipes equinovarus 30 Very rare (1%) HP:0001762
17 arachnodactyly 30 Very rare (1%) HP:0001166
18 disproportionate tall stature 30 Very rare (1%) HP:0001519
19 dural ectasia 30 Very rare (1%) HP:0100775
20 ascending aortic dissection 30 Very rare (1%) HP:0004933
21 descending aortic dissection 30 Very rare (1%) HP:0012499
22 patent ductus arteriosus 30 Very rare (1%) HP:0001643
23 proptosis 30 Very rare (1%) HP:0000520
24 malar flattening 30 Very rare (1%) HP:0000272
25 craniosynostosis 30 Very rare (1%) HP:0001363
26 blue sclerae 30 Very rare (1%) HP:0000592
27 bifid uvula 30 Very rare (1%) HP:0000193
28 aortic root aneurysm 30 Very rare (1%) HP:0002616
29 bicuspid pulmonary valve 30 Very rare (1%) HP:0005182
30 camptodactyly 30 Very rare (1%) HP:0012385
31 exotropia 30 Very rare (1%) HP:0000577
32 soft skin 30 Very rare (1%) HP:0000977
33 pulmonary artery aneurysm 30 Very rare (1%) HP:0004937
34 dermal translucency 30 Very rare (1%) HP:0010648
35 arterial tortuosity 30 Very rare (1%) HP:0005116
36 dilatation of the cerebral artery 30 Very rare (1%) HP:0004944
37 carotid artery dilatation 30 Very rare (1%) HP:0012163
38 ascending tubular aorta aneurysm 30 Very rare (1%) HP:0004970
39 postaxial polydactyly 30 Very rare (1%) HP:0100259
40 dilatation of mesenteric artery 30 Very rare (1%) HP:0011934
41 abdominal aortic aneurysm 30 Very rare (1%) HP:0005112
42 chiari malformation 30 Very rare (1%) HP:0002308
43 aortic arch aneurysm 30 Very rare (1%) HP:0005113
44 descending thoracic aorta aneurysm 30 Very rare (1%) HP:0004959
45 dilatation of the ductus arteriosus 30 Very rare (1%) HP:0030745
46 pectus carinatum 30 HP:0000768
47 pes planus 30 HP:0001763
48 micrognathia 30 HP:0000347
49 pectus excavatum 30 HP:0000767
50 striae distensae 30 HP:0001065

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

Head And Neck Face:
retrognathia
micrognathia

Skeletal Feet:
talipes equinovarus

Cardiovascular Vascular:
ascending aortic dissection
patent ductus arteriosus
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

Abdomen External Features:
umbilical hernia (rare)
inguinal hernia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Skeletal:
joint laxity
osteoporosis (in some patients)
low-impact fractures (in some patients)

Skeletal Hands:
arachnodactyly
brachydactyly
camptodactyly
contractures
postaxial polydactyly (rare)
more
Head And Neck Mouth:
bifid uvula
cleft palate (uncommon)

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

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

Growth Other:
dolichostenomelia (uncommon)

Clinical features from OMIM®:

610168 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 FBN1 GPT2 RNF112 SMAD3 TGFB2 TGFBR1
2 craniofacial MP:0005382 9.02 FBN1 SMAD3 TGFB2 TGFBR1 TGFBR2

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

Search Clinical Trials, NIH Clinical Center for Loeys-Dietz Syndrome 2

Genetic Tests for Loeys-Dietz Syndrome 2

Genetic tests related to Loeys-Dietz Syndrome 2:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 2 28 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome 2

Organs/tissues related to Loeys-Dietz Syndrome 2:

MalaCards : Bone, Eye, Uterus, Spleen, Skin, Brain, Lung
ODiseA: Artery-Aorta, Digestive System, Artery, Respiratory System-Lung, Respiratory System

Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 62 57 5
16251899 2006
2
Heterozygous TGFBR2 mutations in Marfan syndrome. 62 57 5
15235604 2004
3
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. 62 57 5
12821554 2003
4
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 57 5
20358619 2010
5
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 57 5
16928994 2006
6
Molecular pathology of Shprintzen-Goldberg syndrome. 57 5
16333834 2006
7
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 57 5
16027248 2005
8
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 57 5
15731757 2005
9
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. 57 5
8317497 1993
10
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 62 5
16799921 2006
11
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. 62 57
8946175 1996
12
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. 62 57
7632217 1994
13
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. 5
35535697 2022
14
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
15
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome. 5
32528524 2020
16
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. 5
28679693 2017
17
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 5
28344185 2017
18
Extreme phenotypes of Loeys Dietz syndrome. 5
28225382 2017
19
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 57
27879313 2016
20
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. 57
24344637 2014
21
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. 57
24194458 2014
22
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 57
19996017 2009
23
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 57
19542084 2009
24
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. 5
19816028 2009
25
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 57
19006214 2008
26
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 57
18978651 2008
27
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 5
16885183 2006
28
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. 57
12975342 2003
29
Transforming growth factor beta in cardiovascular development and function. 57
12948523 2003
30
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 5
9927040 1999
31
TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. 57
9217007 1997
32
Reply to "The question of heterogeneity in Marfan syndrome" 57
21836810 1995
33
The question of heterogeneity in Marfan syndrome. 57
7773282 1995
34
Marfan syndrome or Marfan-like connective-tissue disorder. 57
8116625 1994
35
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. 57
1969488 1990
36
Effects of rumen-native microbial feed supplementation on milk yield, composition, and feed efficiency in lactating dairy cows. 62
36041454 2022
37
The Biosynthesis of 1-octene-3-ol by a Multifunctional Fatty Acid Dioxygenase and Hydroperoxide Lyase in Agaricus bisporus. 62
36012815 2022
38
Feeding native rumen microbial supplements increases energy-corrected milk production and feed efficiency by Holstein cows. 62
36338023 2022
39
Functional characterization of the three Oryza sativa SPX-MFS proteins in maintaining phosphate homoeostasis. 62
35909262 2022
40
Chitosan Increases Lysine Content through Amino Acid Transporters in Flammulina filiformis. 62
35885406 2022
41
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2. 62
35689619 2022
42
Matching-adjusted indirect treatment comparison of the efficacy of enzalutamide versus apalutamide for the treatment of nonmetastatic castration-resistant prostate cancer. 62
35714477 2022
43
Complex Multi-Stage Total Aortic and Subclavian Artery Replacement in a 9-year old boy with Loeys-Dietz-Syndrome. 62
34808260 2022
44
Reconstruction of a Context-Specific Model Based on Genome-Scale Metabolic Simulation for Identification of Prochloraz Resistance Mechanisms in Penicillium digitatum. 62
33180649 2021
45
Establishment and characterization of NCC-MFS2-C1: a novel patient-derived cancer cell line of myxofibrosarcoma. 62
32870449 2021
46
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection. 62
33052376 2021
47
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation. 62
32152251 2020
48
MULTI-FLORET SPIKELET 2, a MYB Transcription Factor, Determines Spikelet Meristem Fate and Floral Organ Identity in Rice. 62
32723808 2020
49
Over-Expression of Hypochlorite Inducible Major Facilitator Superfamily (MFS) Pumps Reduces Antimicrobial Drug Susceptibility by Increasing the Production of MexXY Mediated by ArmZ in Pseudomonas aeruginosa. 62
33510718 2020
50
Endocrine regulation of MFS2 by branchless controls phosphate excretion and stone formation in Drosophila renal tubules. 62
31217461 2019

Variations for Loeys-Dietz Syndrome 2

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

5 (show top 50) (show all 365)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR2 NM_003242.6(TGFBR2):c.1524G>A (p.Gln508_Gly509=) SNV Pathogenic
12504 rs121918715 GRCh37: 3:30730003-30730003
GRCh38: 3:30688511-30688511
2 TGFBR2 NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) SNV Pathogenic
12505 rs28934568 GRCh37: 3:30713598-30713598
GRCh38: 3:30672106-30672106
3 TGFBR2 NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) SNV Pathogenic
12506 rs104893807 GRCh37: 3:30715688-30715688
GRCh38: 3:30674196-30674196
4 TGFBR2 NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) SNV Pathogenic
12508 rs104893812 GRCh37: 3:30713681-30713681
GRCh38: 3:30672189-30672189
5 TGFBR2 NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) SNV Pathogenic
12509 rs104893813 GRCh37: 3:30713738-30713738
GRCh38: 3:30672246-30672246
6 TGFBR2 NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) SNV Pathogenic
12510 rs104893814 GRCh37: 3:30713744-30713744
GRCh38: 3:30672252-30672252
7 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) SNV Pathogenic
12511 rs104893815 GRCh37: 3:30732970-30732970
GRCh38: 3:30691478-30691478
8 TGFBR2 NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) SNV Pathogenic
12514 rs104893811 GRCh37: 3:30715720-30715720
GRCh38: 3:30674228-30674228
9 TGFBR2 NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) SNV Pathogenic
12517 rs104893817 GRCh37: 3:30715615-30715615
GRCh38: 3:30674123-30674123
10 TGFBR2 NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) SNV Pathogenic
12518 rs104893818 GRCh37: 3:30715622-30715622
GRCh38: 3:30674130-30674130
11 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) SNV Pathogenic
180541 rs727504421 GRCh37: 3:30732957-30732957
GRCh38: 3:30691465-30691465
12 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) SNV Pathogenic
177704 rs727504292 GRCh37: 3:30713742-30713742
GRCh38: 3:30672250-30672250
13 TGFBR2 NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) SNV Pathogenic
1299545 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
14 TGFBR2 NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) SNV Pathogenic
263412 rs886038794 GRCh37: 3:30713506-30713506
GRCh38: 3:30672014-30672014
15 TGFBR2 NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) SNV Pathogenic
12515 rs104893816 GRCh37: 3:30715721-30715721
GRCh38: 3:30674229-30674229
16 TGFBR2 NM_003242.6(TGFBR2):c.1397-2A>G SNV Pathogenic
12516 rs587776770 GRCh37: 3:30729874-30729874
GRCh38: 3:30688382-30688382
17 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) SNV Pathogenic
Pathogenic
12519 rs104893819 GRCh37: 3:30729962-30729962
GRCh38: 3:30688470-30688470
18 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) SNV Pathogenic
12512 rs104893810 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
19 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) SNV Pathogenic
213934 rs863223852 GRCh37: 3:30729968-30729968
GRCh38: 3:30688476-30688476
20 TGFBR2 NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) SNV Pathogenic
393299 rs1553630457 GRCh37: 3:30715723-30715723
GRCh38: 3:30674231-30674231
21 TGFBR2 NM_003242.6(TGFBR2):c.95-2A>G SNV Likely Pathogenic
12513 rs779131465 GRCh37: 3:30686237-30686237
GRCh38: 3:30644745-30644745
22 TGFBR2 NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) SNV Likely Pathogenic
217016 rs863224935 GRCh37: 3:30729887-30729887
GRCh38: 3:30688395-30688395
23 TGFBR2 NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) SNV Likely Pathogenic
919773 rs727504292 GRCh37: 3:30713742-30713742
GRCh38: 3:30672250-30672250
24 TGFBR2 NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro) SNV Likely Pathogenic
1699490 GRCh37: 3:30715673-30715673
GRCh38: 3:30674181-30674181
25 TGFBR2 NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) SNV Likely Pathogenic
155839 rs587782979 GRCh37: 3:30715724-30715724
GRCh38: 3:30674232-30674232
26 TGFBR2 NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg) SNV Likely Pathogenic
1679895 GRCh37: 3:30713852-30713852
GRCh38: 3:30672360-30672360
27 TGFBR2 NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) SNV Likely Pathogenic
12507 rs104893809 GRCh37: 3:30732996-30732996
GRCh38: 3:30691504-30691504
28 TGFBR2 NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser) SNV Likely Pathogenic
1332770 GRCh37: 3:30715720-30715720
GRCh38: 3:30674228-30674228
29 TGFBR2 NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) SNV Likely Pathogenic
1332771 GRCh37: 3:30715721-30715721
GRCh38: 3:30674229-30674229
30 TGFBR2 NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg) SNV Likely Pathogenic
1332843 GRCh37: 3:30713777-30713777
GRCh38: 3:30672285-30672285
31 TGFBR2 NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) SNV Likely Pathogenic
1028591 rs1575158079 GRCh37: 3:30713809-30713809
GRCh38: 3:30672317-30672317
32 TGFBR2 NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser) SNV Likely Pathogenic
1297003 GRCh37: 3:30713535-30713535
GRCh38: 3:30672043-30672043
33 TGFBR2 NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) SNV Likely Pathogenic
265447 rs886039551 GRCh37: 3:30715678-30715678
GRCh38: 3:30674186-30674186
34 TGFBR2 NM_003242.6(TGFBR2):c.95-3679C>A SNV Uncertain Significance
1696507 GRCh37: 3:30682560-30682560
GRCh38: 3:30641068-30641068
35 TGFBR2 NM_003242.6(TGFBR2):c.95-3C>A SNV Uncertain Significance
408434 rs375330013 GRCh37: 3:30686236-30686236
GRCh38: 3:30644744-30644744
36 TMPO NM_001032283.3(TMPO):c.565+1390A>G SNV Uncertain Significance
310766 rs780719278 GRCh37: 12:98927006-98927006
GRCh38: 12:98533228-98533228
37 TMPO NM_001032283.3(TMPO):c.565+2368G>A SNV Uncertain Significance
44669 rs138295270 GRCh37: 12:98927984-98927984
GRCh38: 12:98534206-98534206
38 TMPO NM_001032283.3(TMPO):c.565+2361G>T SNV Uncertain Significance
380110 rs746160070 GRCh37: 12:98927977-98927977
GRCh38: 12:98534199-98534199
39 TMPO NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) SNV Uncertain Significance
518670 rs778356103 GRCh37: 12:98921673-98921673
GRCh38: 12:98527895-98527895
40 TMPO NM_001032283.3(TMPO):c.565+2182T>C SNV Uncertain Significance
1311139 GRCh37: 12:98927798-98927798
GRCh38: 12:98534020-98534020
41 TMPO NM_001032283.3(TMPO):c.565+1361T>G SNV Uncertain Significance
1423035 GRCh37: 12:98926977-98926977
GRCh38: 12:98533199-98533199
42 TMPO NM_001032283.3(TMPO):c.565+2488G>A SNV Uncertain Significance
1393903 GRCh37: 12:98928104-98928104
GRCh38: 12:98534326-98534326
43 TMPO NM_001032283.3(TMPO):c.565+1949C>G SNV Uncertain Significance
1407719 GRCh37: 12:98927565-98927565
GRCh38: 12:98533787-98533787
44 TMPO NM_001032283.3(TMPO):c.565+2299A>G SNV Uncertain Significance
1442701 GRCh37: 12:98927915-98927915
GRCh38: 12:98534137-98534137
45 TMPO NM_001032283.3(TMPO):c.565+1567C>T SNV Uncertain Significance
1498863 GRCh37: 12:98927183-98927183
GRCh38: 12:98533405-98533405
46 TMPO-AS1, TMPO NM_001032283.3(TMPO):c.234C>G (p.Gly78=) SNV Uncertain Significance
1511149 GRCh37: 12:98909879-98909879
GRCh38: 12:98516101-98516101
47 TGFBR2 NM_003242.6(TGFBR2):c.*1201C>T SNV Uncertain Significance
344692 rs886058318 GRCh37: 3:30734292-30734292
GRCh38: 3:30692800-30692800
48 TGFBR2 NM_003242.6(TGFBR2):c.*86A>G SNV Uncertain Significance
344665 rs540602629 GRCh37: 3:30733177-30733177
GRCh38: 3:30691685-30691685
49 TGFBR2 NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) SNV Uncertain Significance
1333752 GRCh37: 3:30713762-30713762
GRCh38: 3:30672270-30672270
50 TGFBR2 NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) SNV Uncertain Significance
923453 rs759362407 GRCh37: 3:30713180-30713180
GRCh38: 3:30671688-30671688

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 2:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Leu308Pro VAR_022351 rs28934568
2 TGFBR2 p.Tyr336Asn VAR_022352 rs104893812
3 TGFBR2 p.Ala355Pro VAR_022353 rs104893813
4 TGFBR2 p.Gly357Trp VAR_022354 rs104893814
5 TGFBR2 p.Ser449Phe VAR_022358 rs104893807
6 TGFBR2 p.Arg528Cys VAR_022360 rs104893810
7 TGFBR2 p.Arg528His VAR_022361 rs104893815
8 TGFBR2 p.Arg537Cys VAR_022362 rs104893809
9 TGFBR2 p.Arg460Cys VAR_029760 rs104893811
10 TGFBR2 p.Arg460His VAR_029761 rs104893816
11 TGFBR2 p.His377Arg VAR_066724 rs1553630274
12 TGFBR2 p.Asp446Asn VAR_066725 rs886039551
13 TGFBR2 p.Met457Lys VAR_066726
14 TGFBR2 p.Gly509Val VAR_066727 rs863223853
15 TGFBR2 p.Ile510Phe VAR_066728
16 TGFBR2 p.Ile510Ser VAR_066729
17 TGFBR2 p.Cys514Arg VAR_066730 rs193922664
18 TGFBR2 p.Trp521Arg VAR_066731 rs1575166666
19 TGFBR2 p.Arg190His VAR_076167 rs780542125
20 TGFBR2 p.Asp247Val VAR_076168 rs761231369
21 TGFBR2 p.Thr325Pro VAR_076169
22 TGFBR2 p.Gly357Arg VAR_076170
23 TGFBR2 p.Thr530Ile VAR_076171

Expression for Loeys-Dietz Syndrome 2

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 2.

Pathways for Loeys-Dietz Syndrome 2

Pathways related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1 13.58 TRIO TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
2
Show member pathways
12.68 TGFBR2 TGFBR1 TGFB2 SMAD3
3
Show member pathways
12.55 TGFBR2 TGFBR1 TGFB2 SMAD3
4
Show member pathways
12.36 TGFBR2 TGFBR1 TGFB2 SMAD3
5
Show member pathways
12.27 TGFBR2 TGFBR1 CAPN14
6
Show member pathways
12.26 TGFBR2 TGFBR1 TGFB2 SMAD3
7
Show member pathways
12.25 TGFBR2 TGFBR1 SMAD3
8 12.23 TGFBR2 TGFBR1 TGFB2
9 12.09 TGFBR1 TGFB2 SMAD3
10 12.09 TGFBR2 TGFBR1 TGFB2 SMAD3
11 12.07 TGFBR2 TGFBR1 TGFB2 SMAD3
12
Show member pathways
12.05 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
13
Show member pathways
11.98 TGFBR2 TGFBR1 SMAD3
14 11.98 TGFBR2 TGFBR1 TGFB2 SMAD3
15
Show member pathways
11.81 FBN1 SMAD3 TGFBR1 TGFBR2
16
Show member pathways
11.77 TGFBR2 TGFBR1 SMAD3
17 11.72 TGFBR2 TGFBR1 TGFB2 SMAD3
18 11.67 TGFB2 SMAD3 FBN1
19 11.64 TGFBR2 TGFBR1 SMAD3
20 11.61 TGFBR2 TGFBR1 TGFB2 SMAD3
21
Show member pathways
11.58 TGFBR2 TGFBR1 TGFB2 SMAD3
22 11.47 TGFBR2 TGFBR1 SMAD3
23
Show member pathways
11.47 TGFBR2 TGFBR1 TGFB2 SMAD3
24 11.45 TGFB2 TGFBR1 TGFBR2
25 11.37 TGFBR2 TGFB2
26
Show member pathways
11.35 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
27 11.34 TGFBR1 SMAD3
28 11.29 TGFBR1 SMAD3
29 11.26 TGFBR2 FBN1
30 11.26 TGFBR1 TGFB2 SMAD3
31 11.19 TGFBR1 TGFB2
32 11.18 TGFBR2 TGFBR1 TGFB2 SMAD3
33 11.15 TGFBR1 TGFB2 SMAD3
34 11.13 TGFBR2 TGFBR1 SMAD3
35
Show member pathways
11.1 TGFBR2 TGFBR1 SMAD3
36
Show member pathways
11.06 TGFBR2 TGFBR1
37
Show member pathways
10.99 FBN1 SMAD3
38 10.92 TGFBR2 TGFBR1
39 10.86 TGFBR1 FBN1
40 10.81 TGFBR2 TGFBR1 TGFB2
41 10.77 TGFBR2 TGFBR1 SMAD3
42 10.32 TGFBR2 TGFBR1 SMAD3 FBN1

GO Terms for Loeys-Dietz Syndrome 2

Cellular components related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta ligand-receptor complex GO:0070021 8.92 TGFBR2 TGFBR1

Biological processes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.16 TGFBR2 TGFBR1 TGFB2 FBN1
2 kidney development GO:0001822 10.03 TGFBR1 TGFB2 FBN1
3 cellular response to transforming growth factor beta stimulus GO:0071560 10.01 TGFBR1 SMAD3 FBN1
4 skeletal system development GO:0001501 9.98 TGFBR1 TGFB2 SMAD3 FBN1
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.97 TGFB2 TGFBR1 TGFBR2
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.97 TGFBR2 TGFBR1 TGFB2 SMAD3
7 cell-cell junction organization GO:0045216 9.93 TGFB2 SMAD3
8 ventricular septum morphogenesis GO:0060412 9.93 TGFBR2 TGFBR1 TGFB2
9 wound healing GO:0042060 9.92 SMAD3 TGFB2 TGFBR1 TGFBR2
10 secondary palate development GO:0062009 9.91 TGFBR2 TGFB2
11 cardiac epithelial to mesenchymal transition GO:0060317 9.91 TGFBR1 TGFB2
12 ventricular trabecula myocardium morphogenesis GO:0003222 9.89 TGFBR1 TGFB2
13 atrioventricular valve morphogenesis GO:0003181 9.88 TGFB2 TGFBR2
14 embryonic cranial skeleton morphogenesis GO:0048701 9.88 TGFBR2 TGFBR1 SMAD3
15 response to cholesterol GO:0070723 9.87 TGFBR2 TGFBR1
16 membranous septum morphogenesis GO:0003149 9.85 TGFBR2 TGFB2
17 endocardial cushion fusion GO:0003274 9.81 TGFBR2 TGFB2
18 regulation of transforming growth factor beta2 production GO:0032909 9.78 TGFB2 SMAD3
19 activin receptor signaling pathway GO:0032924 9.73 TGFBR2 TGFBR1 SMAD3
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.63 TGFBR2 TGFBR1 TGFB2
21 regulation of macromolecule metabolic process GO:0060255 9.62 TGFBR2 TGFBR1
22 regulation of primary metabolic process GO:0080090 9.62 TGFBR2 TGFBR1
23 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.6 TGFBR2 TGFBR1
24 regulation of nitrogen compound metabolic process GO:0051171 9.58 TGFBR2 TGFBR1
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.56 TGFBR2 TGFBR1 TGFB2 SMAD3
26 regulation of multicellular organismal process GO:0051239 9.52 TGFBR2 TGFBR1
27 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.1 TGFBR2 TGFBR1 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 activin binding GO:0048185 9.73 TGFBR2 TGFBR1
2 I-SMAD binding GO:0070411 9.71 TGFBR1 SMAD3
3 transforming growth factor beta receptor binding GO:0005160 9.67 TGFB2 SMAD3
4 type II transforming growth factor beta receptor binding GO:0005114 9.62 TGFBR1 TGFB2
5 transforming growth factor beta receptor activity GO:0005024 9.46 TGFBR2 TGFBR1
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 TGFBR2 TGFBR1
7 SMAD binding GO:0046332 9.35 TGFBR2 TGFBR1 SMAD3
8 type III transforming growth factor beta receptor binding GO:0034714 8.8 TGFBR2 TGFB2

Sources for Loeys-Dietz Syndrome 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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