LDS1
MCID: LYS019
MIFTS: 57

Loeys-Dietz Syndrome 1 (LDS1)

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

Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 56 12 52 73 29 6 15
Furlong Syndrome 56 12 73 71
Loeys-Dietz Aortic Aneurysm Syndrome 56 73 71
Lds1 56 12 73
Aat5 56 12 73
Loeys-Dietz Syndrome Type 1 52 71
Marfanoid Disorder-Craniosynostosis Syndrome 73
Aortic Aneurysm, Familial Thoracic 5; Aat5 56
Aortic Aneurysm, Familial Thoracic 5 56
Familial Throacic Aortic Aneurysm 5 12
Familial Thoracic Aortic Aneurysm 5 73
Syndrome, Loeys-Dietz, Type 1 39
Loeys-Dietz Syndrome, Type 2a 71
Ldas 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
loeys-dietz syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Loeys-Dietz Syndrome 1

OMIM : 56 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 furlong syndrome, is related to loeys-dietz syndrome 5 and craniosynostosis. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. The drugs Adalimumab and rituximab have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and brain, and related phenotypes are hypertelorism and ascending tubular aorta aneurysm

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 73 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

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 5 31.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
2 craniosynostosis 30.5 TGFBR2 TGFBR1 SMAD3 FBN1
3 cleft palate, isolated 30.4 TGFBR2 TGFBR1 TGFB3 TGFB2 H2AC18
4 marfan syndrome 30.1 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ACTA2
5 loeys-dietz syndrome 29.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
6 arterial tortuosity syndrome 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
7 aortic aneurysm 28.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
8 antiphospholipid syndrome 11.3
9 transient hypogammaglobulinemia of infancy 10.4 TGFBR2 TGFBR1
10 transient hypogammaglobulinemia 10.4 TGFBR2 TGFBR1
11 ectopia lentis 1, isolated, autosomal dominant 10.4 TGFBR2 FBN1
12 telangiectasis 10.3 TGFBR1 H2AC18 FBN1
13 ectopia lentis 2, isolated, autosomal recessive 10.3 TGFBR2 FBN1
14 eisenmenger syndrome 10.3 TGFBR2 TGFBR1
15 hypertelorism 10.3
16 scoliosis 10.3
17 hydrocephalus 10.3
18 chiari malformation 10.3
19 alzheimer disease 10.3
20 intracranial aneurysm 10.2 TGFBR2 TGFBR1 TGFB2
21 multiple self-healing squamous epithelioma 10.2 TGFBR2 TGFBR1
22 cutis laxa, autosomal dominant 1 10.2 TGFBR2 TGFBR1 SLC2A10 FBN1
23 bullous keratopathy 10.2 TGFB3 TGFB2 FBN1
24 keratopathy 10.2 TGFB3 TGFB2 FBN1
25 mitral valve disease 10.2 TGFB3 TGFB2 FBN1
26 brain stem cancer 10.2 KDM4C H3-2 H2AC18
27 aortic aneurysm, familial thoracic 2 10.2 SLC2A10 FBN1 ACTA2
28 kleefstra syndrome 1 10.2 KDM4C H3-2 H2AC18
29 kleefstra syndrome 10.1 KDM4C H3-2 H2AC18
30 peyronie's disease 10.1 TGFB3 TGFB2 SMAD3
31 hereditary hemorrhagic telangiectasia 10.1 TGFBR2 TGFBR1 TGFB2
32 ehlers-danlos syndrome 10.1 TGFBR1 SLC2A10 MYH11 FBN1
33 chromosome 16p13.3 deletion syndrome, proximal 10.1 KDM4C H3-2 H2AC18
34 alcohol dependence 10.1
35 hand skill, relative 10.1
36 systemic lupus erythematosus 10.1
37 extrapulmonary tuberculosis 10.1
38 secondary progressive multiple sclerosis 10.1
39 trypanosomiasis 10.1
40 chagas disease 10.1
41 diarrhea 10.1
42 angiomyoma 10.1
43 peptic ulcer disease 10.1
44 lupus erythematosus 10.1
45 learning disability 10.1
46 spinal cord injury 10.1
47 hyperoxaluria, primary, type i 10.1 KDM4C H3-2 H2AC18
48 weaver syndrome 10.1 KDM4C H3-2 H2AC18
49 carbohydrate metabolic disorder 10.1 KDM4C H3-2 H2AC18
50 cutis laxa, autosomal recessive, type ia 10.1 SLC2A10 FBN1

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

Human phenotypes related to Loeys-Dietz Syndrome 1:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 hallmark (90%) HP:0000316
2 ascending tubular aorta aneurysm 31 hallmark (90%) HP:0004970
3 scoliosis 31 frequent (33%) HP:0002650
4 retrognathia 31 frequent (33%) HP:0000278
5 joint laxity 31 frequent (33%) HP:0001388
6 talipes equinovarus 31 frequent (33%) HP:0001762
7 arachnodactyly 31 frequent (33%) HP:0001166
8 ascending aortic dissection 31 frequent (33%) HP:0004933
9 proptosis 31 frequent (33%) HP:0000520
10 malar flattening 31 frequent (33%) HP:0000272
11 craniosynostosis 31 frequent (33%) HP:0001363
12 blue sclerae 31 frequent (33%) HP:0000592
13 abnormality of the sternum 31 frequent (33%) HP:0000766
14 bifid uvula 31 frequent (33%) HP:0000193
15 soft skin 31 frequent (33%) HP:0000977
16 joint contracture of the hand 31 frequent (33%) HP:0009473
17 generalized arterial tortuosity 31 frequent (33%) HP:0004955
18 hydrocephalus 31 occasional (7.5%) HP:0000238
19 disproportionate tall stature 31 occasional (7.5%) HP:0001519
20 arnold-chiari malformation 31 occasional (7.5%) HP:0002308
21 bicuspid pulmonary valve 31 occasional (7.5%) HP:0005182
22 global developmental delay 31 very rare (1%) HP:0001263
23 atrial septal defect 31 very rare (1%) HP:0001631
24 patent ductus arteriosus 31 very rare (1%) HP:0001643
25 intellectual disability 31 HP:0001249
26 micrognathia 31 HP:0000347
27 bicuspid aortic valve 31 HP:0001647
28 mitral valve prolapse 31 HP:0001634
29 postaxial hand polydactyly 31 HP:0001162
30 camptodactyly 31 HP:0012385
31 exotropia 31 HP:0000577
32 pulmonary artery aneurysm 31 HP:0004937
33 dermal translucency 31 HP:0010648
34 dilatation of the cerebral artery 31 HP:0004944
35 descending thoracic aorta aneurysm 31 HP:0004959
36 eosinophilic infiltration of the esophagus 31 HP:0410151

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

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)

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

Growth Other:
dolichostenomelia (uncommon)

Skeletal Spine:
scoliosis

Skeletal:
joint laxity

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

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

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Clinical features from OMIM:

609192

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ACTA2 FBN1 KDM1A MFAP5 MYH11 SLC2A10
2 hematopoietic system MP:0005397 9.9 FBN1 KDM1A KDM4C MFAP5 RCOR1 SLC2A10
3 renal/urinary system MP:0005367 9.5 FBN1 KDM1A MYH11 SLC2A10 SMAD3 TGFB2
4 respiratory system MP:0005388 9.23 FBN1 KDM1A MYH11 SLC2A10 TGFB2 TGFB3

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Drugs for Loeys-Dietz Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 4 331731-18-1 16219006
2
rituximab Approved Phase 4 174722-31-7 10201696
3
Etanercept Approved, Investigational Phase 4 185243-69-0
4 Gastrointestinal Agents Phase 4
5 Immunologic Factors Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Immunosuppressive Agents Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Analgesics Phase 4
10 Antirheumatic Agents Phase 4
11 Antineoplastic Agents, Immunological Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimal Management of Rheumatoid Arthritis Patients Requiring Biologic Therapy Completed NCT01021735 Phase 4 etanercept or adalimumab;Rituximab
2 "Effectiveness After Four and Twentyfour Weeks and Safety of Tocilizumab in Patients With Active RA" Completed NCT00754559 Phase 3 Tocilizumab
3 Influence of Use of Ozonated Water in the Lower Third Molar Surgery Impacted on Pain, Swelling, Trismus, and Quality of Life.Triple Blind Randomized Clinical Trial Split Mouth Completed NCT03501225
4 Prospective Validation of Soluble Biomarkers as Predictors of Structural Damage in Rheumatoid Arthritis Active, not recruiting NCT01476956

Search 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:

40
Skin, Spleen, Brain, Uterus

Publications for Loeys-Dietz Syndrome 1

Articles related to Loeys-Dietz Syndrome 1:

(show all 39)
# Title Authors PMID Year
1
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 6 56
19542084 2009
2
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. 6 56
18070134 2008
3
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 6 56
16928994 2006
4
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 6 56
16791849 2006
5
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 56 6
16596670 2006
6
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 6 56
15731757 2005
7
Familial aortic dissecting aneurysm. 56 6
2647812 1989
8
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
9
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 56
27879313 2016
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
11
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. 56
24344637 2014
12
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
13
Loeys-Dietz syndrome: a primer for diagnosis and management. 56
24577266 2014
14
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
15
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
16
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
17
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 6
21522183 2011
18
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
19
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 56
18978651 2008
20
Loeys-Dietz Syndrome 6
20301312 2008
21
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 6
16799921 2006
22
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 56
16027248 2005
23
Heritable Thoracic Aortic Disease Overview 6
20301299 2003
24
Craniosynostosis and marfanoid habitus without mental retardation: report of a third case. 56
9605294 1998
25
Revised diagnostic criteria for the Marfan syndrome. 56
8723076 1996
26
Marfanoid features and craniosynostosis: report of one case and review. 56
8287183 1993
27
New Marfanoid syndrome with craniosynostosis. 56
3565476 1987
28
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation. 61
32152251 2020
29
Shewanella decolorationis LDS1 Chromate Resistance. 61
31300400 2019
30
Oxylipins from both pathogen and host antagonize jasmonic acid-mediated defence via the 9-lipoxygenase pathway in Fusarium verticillioides infection of maize. 61
29660236 2018
31
Careful with That Axe, Gene, Genome Perturbation after a PEG-Mediated Protoplast Transformation in Fusarium verticillioides. 61
28561789 2017
32
Synthesis of the (9R,13R)-isomer of LDS1, a flower-inducing oxylipin isolated from Lemna paucicostata. 61
27023212 2016
33
A rice LSD1-like-type ZFP gene OsLOL5 enhances saline-alkaline tolerance in transgenic Arabidopsis thaliana, yeast and rice. 61
26920613 2016
34
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 61
25163805 2014
35
LDS1-produced oxylipins are negative regulators of growth, conidiation and fumonisin synthesis in the fungal maize pathogen Fusarium verticillioides. 61
25566199 2014
36
The role of the CoREST/REST repressor complex in herpes simplex virus 1 productive infection and in latency. 61
23628827 2013
37
Motor neuronal control of tail-directed and head-directed siphon responses in Aplysia californica. 61
7472333 1995
38
Transfer of habituation between stimulation sites of the siphon withdrawal reflex in Aplysia californica. 61
6616335 1983
39
Central and peripheral control of siphon-withdrawal reflex in Aplysia californica. 61
217974 1979

Variations for Loeys-Dietz Syndrome 1

ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

6 (show top 50) (show all 171) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter)SNV Pathogenic 694685 3:30729991-30729991 3:30688499-30688499
2 TGFBR1 NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg)SNV Pathogenic 12520 rs121918710 9:101904965-101904965 9:99142683-99142683
3 TGFBR1 NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly)SNV Pathogenic 12521 rs121918711 9:101908835-101908835 9:99146553-99146553
4 TGFBR1 NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)SNV Pathogenic 12522 rs121918712 9:101900165-101900165 9:99137883-99137883
5 TGFBR1 NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro)SNV Pathogenic 12523 rs113605875 9:101911535-101911535 9:99149253-99149253
6 TGFBR1 NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)SNV Pathogenic 12525 rs113605875 9:101911535-101911535 9:99149253-99149253
7 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)SNV Pathogenic 12526 rs111426349 9:101911534-101911534 9:99149252-99149252
8 TGFBR1 NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val)SNV Pathogenic 12527 rs121918713 9:101894968-101894968 9:99132686-99132686
9 TGFBR1 NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)SNV Pathogenic/Likely pathogenic 12524 rs111854391 9:101900288-101900288 9:99138006-99138006
10 TGFBR2 NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)SNV Pathogenic/Likely pathogenic 265447 rs886039551 3:30715678-30715678 3:30674186-30674186
11 TGFBR1 NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)SNV Likely pathogenic 488621 rs727503470 9:101900206-101900206 9:99137924-99137924
12 TGFBR1 NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)SNV Likely pathogenic 520505 rs1554701914 9:101907101-101907101 9:99144819-99144819
13 TGFBR1 NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)SNV Likely pathogenic 692013 9:101900329-101900329 9:99138047-99138047
14 TGFBR1 NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)SNV Likely pathogenic 800489 9:101900301-101900301 9:99138019-99138019
15 TGFBR1 NM_004612.4(TGFBR1):c.848A>G (p.His283Arg)SNV Conflicting interpretations of pathogenicity 477563 rs1064796037 9:101904860-101904860 9:99142578-99142578
16 TGFBR1 NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)SNV Conflicting interpretations of pathogenicity 45097 rs190878719 9:101894975-101894975 9:99132693-99132693
17 TGFBR2 NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)SNV Conflicting interpretations of pathogenicity 161395 rs148665451 3:30713660-30713660 3:30672168-30672168
18 TGFBR1 NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)SNV Conflicting interpretations of pathogenicity 626775 rs758280185 9:101907105-101907105 9:99144823-99144823
19 TGFBR1 NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)SNV Conflicting interpretations of pathogenicity 178135 rs201267786 9:101891159-101891159 9:99128877-99128877
20 TGFBR1 NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)SNV Conflicting interpretations of pathogenicity 177810 rs148176750 9:101894862-101894862 9:99132580-99132580
21 TGFBR1 NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)SNV Conflicting interpretations of pathogenicity 239962 rs878854714 9:101867536-101867536 9:99105254-99105254
22 TGFBR1 NM_004612.4(TGFBR1):c.*2685T>GSNV Conflicting interpretations of pathogenicity 364149 rs145043837 9:101914272-101914272 9:99151990-99151990
23 TGFBR1 NM_004612.4(TGFBR1):c.*4356A>GSNV Conflicting interpretations of pathogenicity 364183 rs201446431 9:101915943-101915943 9:99153661-99153661
24 TGFBR1 NM_004612.4(TGFBR1):c.*4623G>CSNV Conflicting interpretations of pathogenicity 364190 rs200806851 9:101916210-101916210 9:99153928-99153928
25 TGFBR1 NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)SNV Conflicting interpretations of pathogenicity 389350 rs200679996 9:101900148-101900148 9:99137866-99137866
26 TGFBR1 NM_004612.4(TGFBR1):c.*2768T>ASNV Uncertain significance 364152 rs886063246 9:101914355-101914355 9:99152073-99152073
27 TGFBR1 NM_004612.4(TGFBR1):c.*2833G>ASNV Uncertain significance 364156 rs200520116 9:101914420-101914420 9:99152138-99152138
28 TGFBR1 NM_004612.4(TGFBR1):c.*3314A>GSNV Uncertain significance 364165 rs200374520 9:101914901-101914901 9:99152619-99152619
29 TGFBR1 NM_004612.4(TGFBR1):c.*3432G>TSNV Uncertain significance 364169 rs886063251 9:101915019-101915019 9:99152737-99152737
30 TGFBR1 NM_004612.4(TGFBR1):c.*3567G>ASNV Uncertain significance 364171 rs886063252 9:101915154-101915154 9:99152872-99152872
31 TGFBR1 NM_004612.4(TGFBR1):c.*1959G>TSNV Uncertain significance 364129 rs886063237 9:101913546-101913546 9:99151264-99151264
32 TGFBR1 NM_004612.4(TGFBR1):c.*2095T>GSNV Uncertain significance 364135 rs201780012 9:101913682-101913682 9:99151400-99151400
33 TGFBR1 NM_004612.4(TGFBR1):c.*2101_*2102insGTinsertion Uncertain significance 364137 rs886063239 9:101913687-101913688 9:99151405-99151406
34 TGFBR1 NM_004612.4(TGFBR1):c.*2106G>TSNV Uncertain significance 364142 rs201054018 9:101913693-101913693 9:99151411-99151411
35 TGFBR1 NM_004612.4(TGFBR1):c.*4804dupduplication Uncertain significance 364192 rs561572489 9:101916380-101916381 9:99154098-99154099
36 TGFBR1 NM_004612.4(TGFBR1):c.-13T>CSNV Uncertain significance 364096 rs886063220 9:101867475-101867475 9:99105193-99105193
37 TGFBR1 NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)SNV Uncertain significance 364098 rs767785290 9:101894926-101894926 9:99132644-99132644
38 TGFBR1 NM_004612.4(TGFBR1):c.*311G>ASNV Uncertain significance 364105 rs200804500 9:101911898-101911898 9:99149616-99149616
39 TGFBR1 NM_004612.4(TGFBR1):c.*1223A>GSNV Uncertain significance 364114 rs886063229 9:101912810-101912810 9:99150528-99150528
40 TGFBR1 NM_004612.4(TGFBR1):c.*1431G>TSNV Uncertain significance 364119 rs886063232 9:101913018-101913018 9:99150736-99150736
41 TGFBR1 NM_004612.4(TGFBR1):c.*3881G>TSNV Uncertain significance 364177 rs886063254 9:101915468-101915468 9:99153186-99153186
42 TGFBR1 NM_004612.4(TGFBR1):c.*2081G>TSNV Uncertain significance 364131 rs200898127 9:101913668-101913668 9:99151386-99151386
43 TGFBR1 NM_004612.4(TGFBR1):c.*2104_*2105insGTinsertion Uncertain significance 364140 rs1554703244 9:101913690-101913691 9:99151408-99151409
44 TGFBR1 NM_004612.4(TGFBR1):c.*2279T>CSNV Uncertain significance 364144 rs886063242 9:101913866-101913866 9:99151584-99151584
45 TGFBR1 NM_004612.4(TGFBR1):c.*2980G>TSNV Uncertain significance 364158 rs886063248 9:101914567-101914567 9:99152285-99152285
46 TGFBR1 NM_004612.4(TGFBR1):c.*3056C>ASNV Uncertain significance 364159 rs886063249 9:101914643-101914643 9:99152361-99152361
47 TGFBR1 NM_004612.4(TGFBR1):c.*3317C>GSNV Uncertain significance 364166 rs201113438 9:101914904-101914904 9:99152622-99152622
48 TGFBR1 NM_004612.4(TGFBR1):c.*3382T>GSNV Uncertain significance 364167 rs200080374 9:101914969-101914969 9:99152687-99152687
49 TGFBR1 NM_004612.4(TGFBR1):c.*3716T>CSNV Uncertain significance 364173 rs886063253 9:101915303-101915303 9:99153021-99153021
50 TGFBR1 NM_004612.4(TGFBR1):c.*3790C>TSNV Uncertain significance 364174 rs201101442 9:101915377-101915377 9:99153095-99153095

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

73 (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

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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 FBN1
2
Show member pathways
13.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
3
Show member pathways
12.87 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 ACTA2
4
Show member pathways
12.82 TGFBR2 TGFBR1 TGFB3 TGFB2 ACTA2
5
Show member pathways
12.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
6 12.79 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
7
Show member pathways
12.78 TGFBR2 TGFBR1 SMAD3 KDM1B H2AC18
8
Show member pathways
12.71 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
9
Show member pathways
12.55 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
10
Show member pathways
12.44 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
11 12.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
12 12.19 TGFBR1 TGFB3 TGFB2 SMAD3
13
Show member pathways
12.17 TGFBR2 TGFBR1 TGFB2 SMAD3
14 12.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
15 12.12 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
16 12.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
17
Show member pathways
12.01 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
18 11.83 TGFB3 TGFB2 ACTA2
19 11.83 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
20
Show member pathways
11.82 TGFBR2 TGFBR1 SMAD3
21 11.79 TGFBR1 TGFB3 TGFB2
22 11.78 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
23
Show member pathways
11.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
24
Show member pathways
11.72 TGFBR2 TGFBR1 SMAD3
25
Show member pathways
11.71 TGFB3 TGFB2 MFAP5 FBN1
26 11.68 TGFBR2 TGFBR1 SMAD3
27 11.67 TGFBR2 TGFBR1 SMAD3
28
Show member pathways
11.66 TGFBR2 TGFBR1 SMAD3
29 11.57 TGFBR2 TGFBR1 SMAD3
30
Show member pathways
11.54 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
31 11.5 TGFBR2 TGFBR1 TGFB3 SMAD3
32 11.48 TGFBR2 TGFBR1 TGFB2
33 11.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 ACTA2
34 11.41 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
35
Show member pathways
11.2 TGFBR2 TGFBR1 TGFB3
36 11.17 TGFBR2 TGFBR1 TGFB3
37 11.07 TGFBR2 TGFBR1 SMAD3
38 11.02 TGFBR2 TGFBR1 SMAD3 FBN1
39 10.74 TGFB3 TGFB2
40 10.69 TGFBR2 TGFBR1 TGFB3 TGFB2
41 10.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3

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 nucleosome GO:0000786 9.33 KDM1B H3-2 H2AC18
2 microfibril GO:0001527 8.96 MFAP5 FBN1
3 DNA repair complex GO:1990391 8.62 RCOR1 KDM1A

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.06 TGFBR2 TGFBR1 TGFB3 TGFB2 KDM4C
2 positive regulation of gene expression GO:0010628 10.04 TGFBR1 SMAD3 SLC2A10 KDM4C ACTA2
3 chromatin organization GO:0006325 9.97 RCOR1 KDM4C KDM1B KDM1A H2AC18
4 heart development GO:0007507 9.95 TGFBR2 TGFBR1 TGFB2 FBN1
5 in utero embryonic development GO:0001701 9.92 TGFBR2 TGFBR1 TGFB3 SMAD3
6 response to hypoxia GO:0001666 9.89 TGFBR2 TGFB3 TGFB2 SMAD3
7 skeletal system development GO:0001501 9.86 TGFBR1 TGFB2 SMAD3 FBN1
8 cellular response to transforming growth factor beta stimulus GO:0071560 9.79 TGFBR1 SMAD3 FBN1
9 SMAD protein signal transduction GO:0060395 9.78 TGFB3 TGFB2 SMAD3
10 positive regulation of stress fiber assembly GO:0051496 9.77 TGFBR1 TGFB3 SMAD3
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.74 TGFBR1 TGFB3 TGFB2
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.72 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
13 ventricular septum morphogenesis GO:0060412 9.7 TGFBR2 TGFBR1 TGFB2
14 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 TGFBR1 TGFB2
15 positive regulation of SMAD protein signal transduction GO:0060391 9.67 TGFBR1 TGFB3
16 histone H3-K9 demethylation GO:0033169 9.67 KDM4C KDM1A
17 embryonic cranial skeleton morphogenesis GO:0048701 9.67 TGFBR2 TGFBR1 SMAD3
18 cardiac epithelial to mesenchymal transition GO:0060317 9.66 TGFBR1 TGFB2
19 atrioventricular valve morphogenesis GO:0003181 9.65 TGFBR2 TGFB2
20 wound healing GO:0042060 9.65 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
21 response to cholesterol GO:0070723 9.64 TGFBR2 TGFBR1
22 embryonic eye morphogenesis GO:0048048 9.64 MFAP5 FBN1
23 salivary gland morphogenesis GO:0007435 9.63 TGFB3 TGFB2
24 membranous septum morphogenesis GO:0003149 9.63 TGFBR2 TGFB2
25 cell-cell junction organization GO:0045216 9.63 TGFB3 TGFB2 SMAD3
26 histone H3-K4 demethylation GO:0034720 9.62 KDM1B KDM1A
27 activin receptor signaling pathway GO:0032924 9.61 TGFBR2 TGFBR1 SMAD3
28 negative regulation of macrophage cytokine production GO:0010936 9.58 TGFB3 TGFB2
29 secondary palate development GO:0062009 9.58 TGFBR2 TGFB3 TGFB2
30 regulation of transforming growth factor beta2 production GO:0032909 9.55 TGFB2 SMAD3
31 endocardial cushion fusion GO:0003274 9.54 TGFBR2 TGFB2
32 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFBR2 TGFBR1 TGFB2
33 positive regulation of tight junction disassembly GO:1905075 9.51 TGFBR1 TGFB3
34 uterine wall breakdown GO:0042704 9.48 TGFB3 TGFB2
35 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.35 TGFBR2 TGFBR1 TGFB3 SMAD3 SLC2A10
36 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.33 TGFBR2 TGFBR1 TGFB2
37 positive regulation of epithelial to mesenchymal transition GO:0010718 9.02 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.54 TGFBR2 TGFBR1 SMAD3
2 histone demethylase activity GO:0032452 9.51 KDM4C KDM1A
3 activin binding GO:0048185 9.49 TGFBR2 TGFBR1
4 histone demethylase activity (H3-K9 specific) GO:0032454 9.48 KDM4C KDM1A
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 TGFBR1
6 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFBR2 TGFB3
7 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR2 TGFBR1
8 transforming growth factor beta binding GO:0050431 9.33 TGFBR2 TGFBR1 TGFB3
9 histone demethylase activity (H3-dimethyl-K4 specific) GO:0034648 9.32 KDM1B KDM1A
10 type III transforming growth factor beta receptor binding GO:0034714 9.26 TGFB3 TGFB2
11 transforming growth factor beta receptor binding GO:0005160 9.13 TGFB3 TGFB2 SMAD3
12 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFBR1 TGFB3 TGFB2

Sources for Loeys-Dietz Syndrome 1

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
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