MCID: LYS001
MIFTS: 51

Loeys-Dietz Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome

About this section

Aliases & Descriptions for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome 10 21 45 22 23 12 36 24 65
Loeys-Dietz Aortic Aneurysm Syndrome 21 45 22 23 65
Furlong Syndrome 45 65
 
Aortic Aneurysm Syndrome, Loeys-Dietz Type 45
Lds 23

Classifications:



External Ids:

Disease Ontology10 DOID:0050466
MeSH36 D055947
SNOMED-CT59 446263001
NCIt42 C75006
UMLS65 C1836635, C2697932, C2931764

Summaries for Loeys-Dietz Syndrome

About this section
NIH Rare Diseases:45 Loeys-dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. signs and symptoms vary among individuals. this condition is inherited in an autosomal dominant manner with variable clinical expression. this condition is called loeys-dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. individuals without these features are said to have loeys-dietz syndrome type 2. the disease is caused by mutations in the tgfbr1, the tgfbr2,  the smad3 or the tgfb2 genes. it is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. many specialists may be involved for the best managment of the patient. last updated: 10/2/2015

MalaCards based summary: Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to shprintzen-goldberg syndrome and gonadal dysgenesis. An important gene associated with Loeys-Dietz Syndrome is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways are NTHi-Induced Signaling and Adherens junction. Affiliated tissues include bone, heart and brain, and related mouse phenotypes are limbs/digits/tail and tumorigenesis.

Genetics Home Reference:23 Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.

GeneReviews summary for NBK1133

Related Diseases for Loeys-Dietz Syndrome

About this section

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

(show top 50)    (show all 168)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome30.9FBN1, TGFB1
2gonadal dysgenesis30.5TGFB1, TGFB2, TGFB3
3diabetic neuropathy30.0TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
4loeys-dietz syndrome 313.0
5loeys-dietz syndrome 112.9
6loeys-dietz syndrome 412.9
7loeys-dietz syndrome 212.9
8loeys-dietz syndrome 512.8
9marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections12.7
10smad3-related loeys-dietz syndrome12.7
11tgfb2-related loeys-dietz syndrome12.7
12tgfb3-related loeys-dietz syndrome12.7
13smad4-related loeys-dietz syndrome12.6
14tgfbr1-related loeys-dietz syndrome12.6
15tgfbr2-related loeys-dietz syndrome12.6
16epilepsy, progressive myoclonic 2b11.4
17neuronitis10.7
18aortic aneurysm, familial thoracic 110.7
19endotheliitis10.7
20lung cancer10.6
21breast cancer10.6
22hepatitis10.6
23lymphoma10.6
24melanoma10.6
25adenocarcinoma10.6
26vasculitis10.6
27systemic lupus erythematosus10.4
28hepatocellular carcinoma10.4
29esophageal cancer10.4
30marfan syndrome10.4
31retinoschisis10.4
32becker muscular dystrophy10.4
33fragile x syndrome10.4
34acute leukemia10.4
35atherosclerosis10.4
36cerebral palsy10.4
37focal segmental glomerulosclerosis10.4
38intermittent claudication10.4
39leukemia10.4
40liver cirrhosis10.4
41mantle cell lymphoma10.4
42spinal cord injury10.4
43rocky mountain spotted fever10.4
44pachyonychia congenita10.4
45artery disease10.4
46glomerulosclerosis10.4
47oral squamous cell carcinoma10.4
48pelvic inflammatory disease10.4
49tonsillitis10.4
50trench fever10.4

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



Diseases related to loeys-dietz syndrome

Symptoms for Loeys-Dietz Syndrome

About this section

Drugs & Therapeutics for Loeys-Dietz Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History and Genetics of Food Allergy and Related ConditionsRecruitingNCT02504853
2Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
3Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
4Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
5National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

Search NIH Clinical Center for Loeys-Dietz Syndrome


Cochrane evidence based reviews: loeys-dietz syndrome

Genetic Tests for Loeys-Dietz Syndrome

About this section

Genetic tests related to Loeys-Dietz Syndrome:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome22 TGFBR2

Anatomical Context for Loeys-Dietz Syndrome

About this section

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

33
Bone, Heart, Brain, Eye, Testes, Liver, Skeletal muscle

Animal Models for Loeys-Dietz Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0FBN1, GREM1, SMAD3, TGFB2, TGFB3
2MP:00020068.9SMAD3, TGFB1, TGFBI, TGFBR1, TGFBR2
3MP:00053678.7FBN1, GREM1, SMAD3, TGFB1, TGFB2
4MP:00053818.7SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
5MP:00053918.5ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
6MP:00053828.4FBN1, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR2
7MP:00053698.4ACTA2, FBN1, TGFB1, TGFB2, TGFBR1, TGFBR2
8MP:00053888.1FBN1, GREM1, TGFB1, TGFB2, TGFB3, TGFBR1
9MP:00053877.9FBN1, SMAD3, TGFB1, TGFB2, TGFBI, TGFBR1
10MP:00053977.8FBN1, SMAD3, TGFB1, TGFB2, TGFBI, TGFBR1
11MP:00053807.8FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
12MP:00036317.7FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
13MP:00053857.6ACTA2, FBN1, SMAD3, TGFB1, TGFB2, TGFB3
14MP:00053907.4FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
15MP:00053847.2FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
16MP:00053767.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
17MP:00107687.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3
18MP:00053787.1FBN1, GREM1, SMAD3, TGFB1, TGFB2, TGFB3

Publications for Loeys-Dietz Syndrome

About this section

Articles related to Loeys-Dietz Syndrome:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
The L2b real-time PCR targeting the pmpH gene of Chlamydia trachomatis used for the diagnosis of lymphogranuloma venereum is not specific to L2b strains. (27040805)
2016
2
The new Cutaneous Lymphoma International Prognostic index (CLIPi) for early mycosis fungoides failed to identify prognostic groups in a cohort of Spanish patients. (26990536)
2016
3
Polyarteritis nodosa: A contemporary overview. (26884100)
2016
4
Synesthesia induced colors do not bias attention in the same manner as physical colors do. (26325754)
2015
5
The rs3771863 single nucleotide polymorphism of the TACR1 gene is associated to a lower risk of sicca syndrome in fibromyalgia patients. (25786041)
2015
6
FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities. (24893616)
2014
7
A case of hepatitis B reactivation in an anti-HBs positive, anti-HBc positive non-Hodgkin's lymphoma patient. (23385354)
2013
8
CD4+ Th17 cells discriminate clinical types and constitute a third subset of non Th1, Non Th2 T cells in human leprosy. (23936569)
2013
9
Lower Endoscopy Reduces Colorectal Cancer Incidence in Older Individuals. (24316263)
2013
10
Neonatal marfan syndrome: report of two cases. (23549323)
2013
11
Liver failure and the need for transplantation in 6 patients with hepatoportal sclerosis. (23769069)
2013
12
Prevalence of severe acute rotavirus gastroenteritis and intussusceptions in Ghanaian children under 5 years of age. (22337844)
2012
13
Chemogenomic approach identified yeast YLR143W as diphthamide synthetase. (23169644)
2012
14
Diagnosis of intravenous leiomyomatosis extending to heart with emphasis on magnetic resonance imaging. (22340462)
2012
15
Selection criteria for liver transplantation in paediatric acute liver failure: the saga continues. (21241436)
2011
16
Nestin expression in human tumors and tumor cell lines. (20429619)
2010
17
Evidence for large complex networks of plant short silencing RNAs. (20360863)
2010
18
The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men. (20078617)
2010
19
Molecular and spatial epidemiology of human campylobacteriosis: source association and genotype-related risk factors. (20141645)
2010
20
CC chemokine ligand-2 synergizes with the nonchemokine G protein-coupled receptor ligand fMLP in monocyte chemotaxis, and it cooperates with the TLR ligand LPS via induction of CXCL8. (19451399)
2009
21
A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. (18822097)
2009
22
Haemorrhagic transformation of cerebral infarction in an AIDS patient--thrombophilia screen essential! (19833695)
2009
23
Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA. (18511416)
2008
24
Ectopic openings of the bilio-pancreatic ducts in the stomach in an elderly case presenting with choledocholithiasis and acute cholangitis. (18568154)
2008
25
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. (18030493)
2008
26
The monitoring of nucleotide diphosphate kinase activity by blue native polyacrylamide gel electrophoresis. (18324728)
2008
27
Expression level of Wilms tumor 1 (WT1) protein has limited prognostic value in epithelial ovarian cancer: from the Danish "MALOVA" ovarian cancer study. (17540436)
2007
28
A lentiviral vector encoding the human Wiskott-Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice. (15616597)
2005
29
Clinical epidemiology of major nontraditional risk factors in peritoneal dialysis patients. (16048265)
2005
30
NOD2 variants and the risk of malignant melanoma. (15785318)
2005
31
The assessment of hookworm calreticulin as a potential vaccine for necatoriasis. (15910422)
2005
32
Popliteal angle in preterm infants with periventricular leukomalacia. (15664766)
2005
33
Proximal promoter polymorphisms of the interleukin-4 receptor alpha are associated with psoriasis in Japan: inverse association pattern compared with atopic dermatitis. (15194153)
2004
34
The evolving role of oral insulin in the treatment of diabetes using a novel RapidMist System. (11921428)
2002
35
DNA rotation by a coordinated conformational change of RecA filaments. (12836290)
2001
36
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. (10951461)
2000
37
IFL1, a gene regulating interfascicular fiber differentiation in Arabidopsis, encodes a homeodomain-leucine zipper protein. (10559440)
1999
38
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. (9222238)
1997
39
Multiple gene alterations involved in the processor of human gastric carcinogenesis]. (8697090)
1995
40
A new member of the HLA-B40 family of alleles, B*4007, coding for B'FU' serological specificity. (7638865)
1995
41
Human cathepsin B-encoding cDNAs: sequence variations in the 3'-untranslated region. (7509303)
1994
42
Increased expression of GATA-1 and NFE-2 erythroid-specific transcription factors during aclacinomycin-mediated differentiation of human erythroleukemic cells. (8445949)
1993
43
Formation of the bile]. (1792500)
1991
44
A new extra sequence at the amino terminal of a mu heavy chain disease protein (DAG). (2119480)
1990
45
Epidermal dendritic S100 positive cells in necrobiosis lipoidica and granuloma annulare. (2265092)
1990
46
Megaloblastic anemia and methotrexate therapy. (5917383)
1966
47
Megaloblastic anemia; an important clue to precise diagnosis. (13922211)
1962
48
Spina Bifida Occulta. (19978286)
1914
49
50

Variations for Loeys-Dietz Syndrome

About this section

Clinvar genetic disease variations for Loeys-Dietz Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBR2NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
2TGFBR1NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)single nucleotide variantPathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
3TGFBR1NM_004612.3(TGFBR1): c.934G> A (p.Gly312Ser)single nucleotide variantLikely pathogenic, Pathogenicrs760079636GRCh38Chr 9, 99142664: 99142664

Expression for genes affiliated with Loeys-Dietz Syndrome

About this section
Search GEO for disease gene expression data for Loeys-Dietz Syndrome.

Pathways for genes affiliated with Loeys-Dietz Syndrome

About this section

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

(show top 50)    (show all 60)
idSuper pathwaysScoreTop Affiliating Genes
19.6SMAD3, TGFBR1, TGFBR2
29.6SMAD3, TGFBR1, TGFBR2
39.1TGFB1, TGFB2, TGFB3
49.1TGFB1, TGFB2, TGFB3
5
Show member pathways
9.1TGFB1, TGFB2, TGFB3
69.1TGFB1, TGFB2, TGFB3
79.1TGFB1, TGFB2, TGFB3
89.1TGFB1, TGFB2, TGFB3
99.1TGFB1, TGFB2, TGFB3
10
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
11
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
12
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
13
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
148.9SMAD3, TGFB1, TGFBR1, TGFBR2
15
Show member pathways
8.9SMAD3, TGFB1, TGFBR1, TGFBR2
168.9SMAD3, TGFB1, TGFBR1, TGFBR2
178.9TGFB1, TGFB2, TGFBR1, TGFBR2
188.9TGFB1, TGFB2, TGFBR1, TGFBR2
19
Show member pathways
8.9TGFB1, TGFB3, TGFBR1, TGFBR2
208.9TGFB1, TGFB3, TGFBR1, TGFBR2
218.8SMAD3, TGFB1, TGFB2, TGFB3
22
Show member pathways
8.7FBN1, TGFB1, TGFB2, TGFB3
238.7ACTA2, TGFB1, TGFB2, TGFB3
24
Show member pathways
8.6SMAD3, TGFB1, TGFB2, TGFBR1, TGFBR2
258.6SMAD3, TGFB1, TGFB3, TGFBR1, TGFBR2
268.6TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
278.6TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
28
Show member pathways
8.2TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
29
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
308.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
318.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
32
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
33
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
34
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
35
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
368.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
378.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
38
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
398.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
40
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
418.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
42
Show member pathways
8.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
438.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
448.2SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
45
Show member pathways
8.1ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
46
Show member pathways
8.1ACTA2, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2
47
Show member pathways
8.0ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1
48
Show member pathways
7.8ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
497.8ACTA2, SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1
50
Show member pathways
7.7ACTA2, FBN1, TGFB1, TGFB2, TGFB3, TGFBR1

GO Terms for genes affiliated with Loeys-Dietz Syndrome

About this section

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

(show top 50)    (show all 68)
idNameGO IDScoreTop Affiliating Genes
1activin receptor signaling pathwayGO:003292410.5SMAD3, TGFBR1
2regulation of transforming growth factor beta2 productionGO:003290910.5SMAD3, TGFB2
3positive regulation of extracellular matrix assemblyGO:190120310.2SMAD3, TGFB1
4endothelial cell migrationGO:004354210.2GREM1, TGFBR1
5common-partner SMAD protein phosphorylationGO:000718210.2TGFB1, TGFBR2
6lens fiber cell differentiationGO:007030610.2SMAD3, TGFB1
7regulation of striated muscle tissue developmentGO:001620210.2SMAD3, TGFB1
8SMAD protein complex assemblyGO:000718310.2SMAD3, TGFB1
9response to laminar fluid shear stressGO:003461610.2TGFB1, TGFB3
10ossification involved in bone remodelingGO:004393210.2TGFB1, TGFB3
11regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500510.2TGFB1, TGFB3
12frontal suture morphogenesisGO:006036410.2TGFB1, TGFB3
13negative regulation of immune responseGO:005077710.1TGFB1, TGFB2
14positive regulation of collagen biosynthetic processGO:003296710.1TGFB1, TGFB3
15negative regulation of DNA replicationGO:000815610.1TGFB1, TGFB3
16signal transduction by protein phosphorylationGO:002301410.1TGFB2, TGFBR1, TGFBR2
17myeloid dendritic cell differentiationGO:004301110.0TGFB1, TGFBR2
18embryonic cranial skeleton morphogenesisGO:004870110.0SMAD3, TGFBR1, TGFBR2
19positive regulation of cardiac muscle cell differentiationGO:200072710.0GREM1, TGFB1
20collagen fibril organizationGO:00301999.9GREM1, TGFB2, TGFBR1
21wound healingGO:00420609.9SMAD3, TGFB2, TGFB3
22regulation of epithelial to mesenchymal transitionGO:00107179.9GREM1, TGFBR1
23positive regulation of bone mineralizationGO:00305019.9SMAD3, TGFB1
24negative regulation of macrophage cytokine productionGO:00109369.8TGFB1, TGFB2, TGFB3
25SMAD protein import into nucleusGO:00071849.8TGFB1, TGFB2, TGFB3
26positive regulation of SMAD protein import into nucleusGO:00603919.7TGFB1, TGFB3, TGFBR1
27epithelial to mesenchymal transitionGO:00018379.6TGFB1, TGFB2, TGFBR1
28face morphogenesisGO:00603259.6TGFB1, TGFB2, TGFB3
29in utero embryonic developmentGO:00017019.6SMAD3, TGFB3, TGFBR1, TGFBR2
30SMAD protein signal transductionGO:00603959.6SMAD3, TGFB1, TGFB2
31cell growthGO:00160499.6TGFB1, TGFB2, TGFB3
32positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6TGFB1, TGFB2, TGFBR1
33pathway-restricted SMAD protein phosphorylationGO:00603899.5TGFB1, TGFB2, TGFBR1, TGFBR2
34positive regulation of protein secretionGO:00507149.5TGFB1, TGFB2, TGFB3
35salivary gland morphogenesisGO:00074359.5TGFB1, TGFB2, TGFB3
36heart developmentGO:00075079.5FBN1, TGFB2, TGFBR1, TGFBR2
37negative regulation of cell growthGO:00303089.5GREM1, SMAD3, TGFB2
38growthGO:00400079.5TGFB1, TGFB2, TGFB3
39platelet degranulationGO:00025769.5TGFB1, TGFB2, TGFB3
40agingGO:00075689.5TGFB1, TGFB3, TGFBR2
41cell cycle arrestGO:00070509.5SMAD3, TGFB1, TGFB2, TGFBR1
42platelet activationGO:00301689.4TGFB1, TGFB2, TGFB3
43palate developmentGO:00600219.4TGFB3, TGFBR1, TGFBR2
44extracellular matrix organizationGO:00301989.2TGFB1, TGFB2, TGFB3
45regulation of cell proliferationGO:00421279.2TGFB1, TGFB3, TGFBR2
46negative regulation of cell proliferationGO:00082859.0SMAD3, TGFB1, TGFB2, TGFBR2
47positive regulation of epithelial to mesenchymal transitionGO:00107189.0SMAD3, TGFB1, TGFB3, TGFBR2
48angiogenesisGO:00015258.8GREM1, TGFB2, TGFBI, TGFBR1
49positive regulation of transcription, DNA-templatedGO:00458938.8GREM1, SMAD3, TGFB1, TGFB3, TGFBR1
50transforming growth factor beta receptor signaling pathwayGO:00071797.9SMAD3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.6SMAD3, TGFBR1, TGFBR2

Sources for Loeys-Dietz Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet