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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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Loeys-Dietz Syndrome 1

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MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 58 12 54 76 30 6 15
Furlong Syndrome 58 12 76 74
Loeys-Dietz Aortic Aneurysm Syndrome 58 76 74
Lds1 58 12 76
Aat5 58 12 76
Loeys-Dietz Syndrome Type 1 54 74
Marfanoid Disorder-Craniosynostosis Syndrome 76
Aortic Aneurysm, Familial Thoracic 5; Aat5 58
Aortic Aneurysm, Familial Thoracic 5 58
Familial Throacic Aortic Aneurysm 5 12
Familial Thoracic Aortic Aneurysm 5 76
Syndrome, Loeys-Dietz, Type 1 41
Loeys-Dietz Syndrome, Type 2a 74
Ldas 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
loeys-dietz syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Cardiovascular diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Loeys-Dietz Syndrome 1

About this section
OMIM : 58 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 and aortic aneurysm. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include skin, brain and spleen, 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 : 76 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.

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Related Diseases for Loeys-Dietz Syndrome 1

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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 all 29)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.2 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
2 aortic aneurysm 29.7 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
3 loeys-dietz syndrome 5 11.2
4 transient hypogammaglobulinemia 10.3 TGFBR1 TGFBR2
5 cutis laxa, autosomal recessive, type ic 10.3 TGFBR1 TGFBR2
6 familial abdominal aortic aneurysm 10.3 COL3A1 FBN1
7 subclavian artery aneurysm 10.2 MYH11 TGFBR2
8 tricuspid valve prolapse 10.2 FBN1 SMAD3
9 loeys-dietz syndrome 2 10.2 GPT2 MYH11 TGFBR2
10 char syndrome 10.2 COL3A1 FBN1 TGFBR2
11 dental pulp calcification 10.1 FBN1 TGFBR2
12 stiff skin syndrome 10.1 FBN1 TGFB2
13 marfan syndrome 10.1 COL3A1 FBN1 TGFBR1 TGFBR2
14 lichen sclerosus et atrophicus 10.0
15 short stature, idiopathic, x-linked 10.0
16 stroke, ischemic 10.0
17 intraocular pressure quantitative trait locus 10.0
18 blood group, junior system 10.0
19 diabetes mellitus 10.0
20 extrapulmonary tuberculosis 10.0
21 angiomyoma 10.0
22 lupus erythematosus 10.0
23 heparin-induced thrombocytopenia 10.0
24 loeys-dietz syndrome 4 9.9 SMAD3 TGFB2 TGFBR1 TGFBR2
25 aortic disease 9.9 FBN1 MYH11 TGFB2 TGFBR1 TGFBR2
26 familial thoracic aortic aneurysm and dissection 9.9 COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
27 subendocardial myocardial infarction 9.8 LDHA SERPINA1
28 aortic aneurysm, familial thoracic 1 9.7 COL3A1 FBN1 MYH11 SMAD3 TGFBR1 TGFBR2
29 loeys-dietz syndrome 3 9.5 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1

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



Diseases related to Loeys-Dietz Syndrome 1
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Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

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Human phenotypes related to Loeys-Dietz Syndrome 1:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 ascending tubular aorta aneurysm 33 hallmark (90%) HP:0004970
3 malar flattening 33 frequent (33%) HP:0000272
4 scoliosis 33 frequent (33%) HP:0002650
5 cleft palate 33 frequent (33%) HP:0000175
6 retrognathia 33 frequent (33%) HP:0000278
7 joint laxity 33 frequent (33%) HP:0001388
8 talipes equinovarus 33 frequent (33%) HP:0001762
9 arachnodactyly 33 frequent (33%) HP:0001166
10 ascending aortic dissection 33 frequent (33%) HP:0004933
11 proptosis 33 frequent (33%) HP:0000520
12 craniosynostosis 33 frequent (33%) HP:0001363
13 blue sclerae 33 frequent (33%) HP:0000592
14 abnormality of the sternum 33 frequent (33%) HP:0000766
15 bifid uvula 33 frequent (33%) HP:0000193
16 soft skin 33 frequent (33%) HP:0000977
17 joint contracture of the hand 33 frequent (33%) HP:0009473
18 generalized arterial tortuosity 33 frequent (33%) HP:0004955
19 hydrocephalus 33 occasional (7.5%) HP:0000238
20 arnold-chiari malformation 33 occasional (7.5%) HP:0002308
21 disproportionate tall stature 33 occasional (7.5%) HP:0001519
22 bicuspid pulmonary valve 33 occasional (7.5%) HP:0005182
23 global developmental delay 33 very rare (1%) HP:0001263
24 patent ductus arteriosus 33 very rare (1%) HP:0001643
25 atrial septal defect 33 very rare (1%) HP:0001631
26 intellectual disability 33 HP:0001249
27 micrognathia 33 HP:0000347
28 bicuspid aortic valve 33 HP:0001647
29 mitral valve prolapse 33 HP:0001634
30 postaxial hand polydactyly 33 HP:0001162
31 camptodactyly 33 HP:0012385
32 exotropia 33 HP:0000577
33 dilatation of the cerebral artery 33 HP:0004944
34 dermal translucency 33 HP:0010648
35 pulmonary artery aneurysm 33 HP:0004937
36 descending thoracic aorta aneurysm 33 HP:0004959
37 eosinophilic infiltration of the esophagus 33 HP:0410151

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal:
joint laxity

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

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

Cardiovascular Vascular:
patent ductus arteriosus
ascending aortic dissection
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Skeletal Feet:
talipes equinovarus

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 COL3A1 FBN1 GPT2 HDAC1 KDM1A MYH11
2 cardiovascular system MP:0005385 10.18 COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11
3 growth/size/body region MP:0005378 10.15 CKB COL3A1 FBN1 HDAC1 KDM1A LDHA
4 mortality/aging MP:0010768 10.07 COL3A1 FBN1 GPT2 HDAC1 KDM1A LDHA
5 embryo MP:0005380 10.06 FBN1 HDAC1 KDM1A PIGA RCOR1 SMAD3
6 hematopoietic system MP:0005397 10.02 FBN1 HDAC1 KDM1A LDHA PIGA RCOR1
7 digestive/alimentary MP:0005381 9.98 COL3A1 MYH11 PIGA SMAD3 TGFB2 TGFBR1
8 muscle MP:0005369 9.7 COL3A1 FBN1 HDAC1 MYH11 TGFB2 TGFBR1
9 neoplasm MP:0002006 9.43 HDAC1 LDHA PIGA SMAD3 TGFBR1 TGFBR2
10 respiratory system MP:0005388 9.28 COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11
Sources

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Unknown status NCT01599533 Not Applicable
2 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
3 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
4 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
5 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
6 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Loeys-Dietz Syndrome 1

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Genetic Tests for Loeys-Dietz Syndrome 1

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Genetic tests related to Loeys-Dietz Syndrome 1:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 30 TGFBR1
Sources

Anatomical Context for Loeys-Dietz Syndrome 1

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

42
Skin, Brain, Spleen, Uterus, Testes, Bone, Eye
Sources

Publications for Loeys-Dietz Syndrome 1

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Articles related to Loeys-Dietz Syndrome 1:

(show all 14)
# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
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). ( 25173340 )
2014
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
5
Evaluation of the adolescent or adult with some features of Marfan syndrome. ( 22237449 )
2012
6
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. ( 21522183 )
2011
7
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. ( 19542084 )
2009
8
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. ( 18070134 )
2008
9
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. ( 16596670 )
2006
10
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. ( 16791849 )
2006
11
Aneurysm syndromes caused by mutations in the TGF-beta receptor. ( 16928994 )
2006
12
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
13
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. ( 15731757 )
2005
14
Familial aortic dissecting aneurysm. ( 2647812 )
1989
Sources

Variations for Loeys-Dietz Syndrome 1

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

76 (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 246)
# 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_004612.2(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
10 TGFBR1 NM_004612.2(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh38 Chromosome 9, 99138006: 99138006
11 TGFBR1 NM_004612.2(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
12 TGFBR1 NM_004612.2(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh38 Chromosome 9, 99149253: 99149253
13 TGFBR1 NM_004612.2(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
14 TGFBR1 NM_004612.2(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 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh37 Chromosome 9, 101907165: 101907165
18 TGFBR1 NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=) single nucleotide variant Benign/Likely benign rs7861780 GRCh38 Chromosome 9, 99144883: 99144883
19 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh37 Chromosome 9, 101907072: 101907072
20 TGFBR1 NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=) single nucleotide variant Benign/Likely benign rs192662552 GRCh38 Chromosome 9, 99144790: 99144790
21 TGFBR1 NM_004612.2(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh37 Chromosome 9, 101894975: 101894975
22 TGFBR1 NM_004612.2(TGFBR1): c.528G> A (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs190878719 GRCh38 Chromosome 9, 99132693: 99132693
23 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh37 Chromosome 3, 30713660: 30713660
24 TGFBR2 NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr) single nucleotide variant Uncertain significance rs148665451 GRCh38 Chromosome 3, 30672168: 30672168
25 TGFBR1 NM_001130916.2(TGFBR1): c.1202A> G (p.Asn401Ser) single nucleotide variant Uncertain significance rs141259922 GRCh37 Chromosome 9, 101911508: 101911508
26 TGFBR1 NM_001130916.2(TGFBR1): c.1202A> G (p.Asn401Ser) single nucleotide variant Uncertain significance rs141259922 GRCh38 Chromosome 9, 99149226: 99149226
27 TGFBR1 NM_001306210.1(TGFBR1): c.70_78delGCGGCGGCG deletion Conflicting interpretations of pathogenicity rs11466445 GRCh37 Chromosome 9, 101867557: 101867565
28 TGFBR1 NM_001306210.1(TGFBR1): c.70_78delGCGGCGGCG deletion Conflicting interpretations of pathogenicity rs11466445 GRCh38 Chromosome 9, 99105275: 99105283
29 TGFBR1 NM_004612.2(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh38 Chromosome 9, 99132580: 99132580
30 TGFBR1 NM_004612.2(TGFBR1): c.415A> G (p.Ile139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148176750 GRCh37 Chromosome 9, 101894862: 101894862
31 TGFBR1 NM_004612.4(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh38 Chromosome 9, 99132622: 99132622
32 TGFBR1 NM_004612.4(TGFBR1): c.457G> A (p.Val153Ile) single nucleotide variant Likely benign rs56014374 GRCh37 Chromosome 9, 101894904: 101894904
33 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh37 Chromosome 9, 101900132: 101900132
34 TGFBR1 NM_004612.3(TGFBR1): c.575-9dupT duplication Benign/Likely benign rs863223798 GRCh38 Chromosome 9, 99137850: 99137850
35 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh37 Chromosome 9, 101900179: 101900179
36 TGFBR1 NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val) single nucleotide variant Uncertain significance rs200018073 GRCh38 Chromosome 9, 99137897: 99137897
37 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh37 Chromosome 3, 30715678: 30715678
38 TGFBR2 NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn) single nucleotide variant Pathogenic/Likely pathogenic rs886039551 GRCh38 Chromosome 3, 30674186: 30674186
39 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh37 Chromosome 9, 101867445: 101867445
40 TGFBR1 NM_004612.3(TGFBR1): c.-43C> A single nucleotide variant Uncertain significance rs886063219 GRCh38 Chromosome 9, 99105163: 99105163
41 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh37 Chromosome 9, 101900232: 101900232
42 TGFBR1 NM_004612.3(TGFBR1): c.666A> G (p.Gly222=) single nucleotide variant Uncertain significance rs886063223 GRCh38 Chromosome 9, 99137950: 99137950
43 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh38 Chromosome 9, 99149236: 99149236
44 TGFBR1 NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=) single nucleotide variant Uncertain significance rs886063225 GRCh37 Chromosome 9, 101911518: 101911518
45 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh38 Chromosome 9, 99149374: 99149374
46 TGFBR1 NM_004612.3(TGFBR1): c.*69A> G single nucleotide variant Benign rs868 GRCh37 Chromosome 9, 101911656: 101911656
47 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh38 Chromosome 9, 99150014: 99150014
48 TGFBR1 NM_004612.3(TGFBR1): c.*709C> T single nucleotide variant Uncertain significance rs886063228 GRCh37 Chromosome 9, 101912296: 101912296
49 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh38 Chromosome 9, 99150488: 99150488
50 TGFBR1 NM_004612.3(TGFBR1): c.*1183G> A single nucleotide variant Likely benign rs184564501 GRCh37 Chromosome 9, 101912770: 101912770
Sources

Expression for Loeys-Dietz Syndrome 1

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

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Endometrial cancer 38
Show member pathways
 12.78 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
2
Pathways in cancer 38
12.74 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
3
Th17 cell differentiation 38
Show member pathways
 12.49 SMAD3 TGFB2 TGFBR1 TGFBR2
4
Development EGFR signaling pathway 23
Show member pathways
 12.44 SMAD3 TGFB2 TGFBR1 TGFBR2
5
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.39 SMAD3 TGFB2 TGFBR1 TGFBR2
6
Human T-cell leukemia virus 1 infection 38
12.27 SMAD3 TGFB2 TGFBR1 TGFBR2
7
Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 67
Show member pathways
 12.2 HDAC1 SMAD3 TGFBR1 TGFBR2
8
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.13 SMAD3 TGFB2 TGFBR1 TGFBR2
9
Colorectal Cancer Metastasis 65
12.08 SMAD3 TGFB2 TGFBR1 TGFBR2
10
Cellular senescence (KEGG) 38
12.05 SMAD3 TGFB2 TGFBR1 TGFBR2
11
Hippo signaling pathway 38
12.01 SMAD3 TGFB2 TGFBR1 TGFBR2
12
FoxO signaling pathway 38
Show member pathways
 11.95 SMAD3 TGFB2 TGFBR1 TGFBR2
13
Osteoclast differentiation 38
11.94 TGFB2 TGFBR1 TGFBR2
14
TGF-beta Signaling Pathway (WikiPathways) 1
11.92 HDAC1 SMAD3 TGFBR1 TGFBR2
15
Th1 Differentiation Pathway 66
Show member pathways
 11.89 SMAD3 TGFB2 TGFBR1 TGFBR2
16
SMAD Signaling Network 65
11.8 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
17
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.79 SMAD3 TGFBR1 TGFBR2
18
Androgen receptor signaling pathway 1
11.77 HDAC1 KDM1A SMAD3
19
TGF-beta Signaling Pathways 66
11.72 SMAD3 TGFB2 TGFBR1 TGFBR2
20
Adherens junction 38
11.65 SMAD3 TGFBR1 TGFBR2
21
Development_TGF-beta receptor signaling 23
11.64 SMAD3 TGFBR1 TGFBR2
22
TGF-beta signaling pathway (KEGG) 38
11.64 SMAD3 TGFB2 TGFBR1 TGFBR2
23
TGF-beta receptor signaling activates SMADs 67
Show member pathways
 11.63 SMAD3 TGFBR1 TGFBR2
24
AGE-RAGE signaling pathway in diabetic complications 38
11.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
25
TGF-beta Receptor Signaling (WikiPathways) 1
11.53 SMAD3 TGFBR1 TGFBR2
26
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.46 SMAD3 TGFBR1 TGFBR2
27
IL-2 Gene Expression in Activated and Quiescent T-Cells 65
Show member pathways
 11.45 SMAD3 TGFB2 TGFBR1 TGFBR2
28
Cell adhesion_Plasmin signaling 23
11.43 TGFB2 TGFBR1 TGFBR2
29
Transcription_P53 signaling pathway 23
11.39 HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
30
Microglia Activation During Neuroinflammation: Steady-State Microglia 66
11.37 TGFB2 TGFBR1 TGFBR2
31
NTHi-Induced Signaling 65
10.9 SMAD3 TGFBR1 TGFBR2
32
Extracellular vesicle-mediated signaling in recipient cells 1
10.73 SMAD3 TGFB2 TGFBR1 TGFBR2
33
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.32 FBN1 SMAD3 TGFBR1 TGFBR2
Sources

GO Terms for Loeys-Dietz Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 COL3A1 FBN1 SERPINA1 TGFB2
2 transcription factor complex GO:0005667 9.26 HDAC1 KDM1A RCOR1 SMAD3
3 DNA repair complex GO:1990391 8.62 KDM1A RCOR1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.84 HDAC1 KDM1A RCOR1 SERPINA1
2 kidney development GO:0001822 9.81 FBN1 TGFB2 TGFBR1
3 skeletal system development GO:0001501 9.77 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
4 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.73 SMAD3 TGFBR1 TGFBR2
5 heart development GO:0007507 9.73 COL3A1 CRIP1 FBN1 TGFB2 TGFBR1 TGFBR2
6 cellular response to transforming growth factor beta stimulus GO:0071560 9.72 FBN1 SMAD3 TGFBR1
7 response to hypoxia GO:0001666 9.7 SMAD3 TGFB2 TGFBR2
8 collagen fibril organization GO:0030199 9.69 COL3A1 TGFB2 TGFBR1
9 response to organic cyclic compound GO:0014070 9.64 KDM1A TGFBR2
10 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.64 TGFBR1 TGFBR2
11 activin receptor signaling pathway GO:0032924 9.63 SMAD3 TGFBR1
12 ventricular septum morphogenesis GO:0060412 9.63 TGFB2 TGFBR1 TGFBR2
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.62 TGFB2 TGFBR1
14 negative regulation of immune response GO:0050777 9.62 COL3A1 TGFB2
15 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD3 TGFB2 TGFBR1 TGFBR2
16 secondary palate development GO:0062009 9.61 TGFB2 TGFBR2
17 embryonic cranial skeleton morphogenesis GO:0048701 9.61 SMAD3 TGFBR1 TGFBR2
18 cardiac epithelial to mesenchymal transition GO:0060317 9.6 TGFB2 TGFBR1
19 atrioventricular valve morphogenesis GO:0003181 9.59 TGFB2 TGFBR2
20 histone H4 deacetylation GO:0070933 9.58 HDAC1 RCOR1
21 membranous septum morphogenesis GO:0003149 9.58 TGFB2 TGFBR2
22 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFB2 TGFBR1 TGFBR2
23 response to cholesterol GO:0070723 9.57 TGFBR1 TGFBR2
24 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
25 endocardial cushion fusion GO:0003274 9.49 TGFB2 TGFBR2
26 regulation of transforming growth factor beta2 production GO:0032909 9.48 SMAD3 TGFB2
27 wound healing GO:0042060 9.35 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
28 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.8 TGFB2 TGFBR1 TGFBR2
29 positive regulation of cell proliferation GO:0008284 10 CRIP2 HDAC1 TGFB2 TGFBR1 TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.73 HDAC1 KDM1A RCOR1 SMAD3
2 transcription regulatory region DNA binding GO:0044212 9.56 HDAC1 KDM1A RCOR1 SMAD3
3 transforming growth factor beta binding GO:0050431 9.46 TGFBR1 TGFBR2
4 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.37 TGFBR1 TGFBR2
6 type II transforming growth factor beta receptor binding GO:0005114 9.16 TGFB2 TGFBR1
7 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2
8 histone deacetylase activity GO:0004407 8.65 HDAC1
9 protein binding GO:0005515 10.22 CKB COL3A1 CRIP2 FBN1 HDAC1 KDM1A
Sources

Sources for Loeys-Dietz Syndrome 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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