Loeys-Dietz Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYS001 MIFTS: 58	Loeys-Dietz Syndrome Categories: Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome

MalaCards integrated aliases for Loeys-Dietz Syndrome:

Name: Loeys-Dietz Syndrome ¹² ²⁴ ⁵³ ²⁵ ³⁷ ²⁹ ⁶ ⁴⁴ ¹⁵ ⁷³

Loeys-Dietz Aortic Aneurysm Syndrome ²⁴ ⁵³ ²⁵ ⁷³

Furlong Syndrome ⁵³ ⁷³

Aortic Aneurysm Syndrome, Loeys-Dietz Type ⁵³

Syndrome, Loeys-Dietz ⁴⁰

Lds ²⁵

Characteristics:

GeneReviews:

²⁴

Penetrance Intrafamilial clinical variability has been described and rare examples of non-penetrance in lds have been documented. in one case, this was related to somatic mosaicism; in another, no evidence for mosaicism was observed...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050466

MeSH ⁴⁴ D055947

NCIt ⁵⁰ C75006

SNOMED-CT ⁶⁸ 446263001

KEGG ³⁷ H00800

SNOMED-CT via HPO ⁶⁹ 248328003 18910001 253983005 more

UMLS ⁷³ C1836635 C2697932 C2931764

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Summaries for Loeys-Dietz Syndrome

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome 1 and loeys-dietz syndrome 4. An important gene associated with Loeys-Dietz Syndrome is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are MAPK signaling pathway and Cytokine-cytokine receptor interaction. Affiliated tissues include bone, heart and eye, and related phenotypes are tall stature and bifid uvula

Genetics Home Reference : ²⁵ 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.

Wikipedia : ⁷⁶ Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

GeneReviews: NBK1133

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Related Diseases for Loeys-Dietz Syndrome

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

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome 1	35.2	TGFBR1 TGFBR2
2	loeys-dietz syndrome 4	35.1	TGFB2 TGFB3
3	loeys-dietz syndrome 2	35.0	TGFBR2 TMPO
4	multiple self-healing squamous epithelioma	30.5	TGFBR1 TGFBR2
5	aortic disease	29.3	ACTA2 FBN1 TGFB2 TGFBR1 TGFBR2
6	marfan syndrome	28.3	ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFBR1
7	aneurysm	27.1	ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
8	aortic aneurysm, familial thoracic 1	26.9	ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
9	aortic aneurysm	26.5	ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
10	loeys-dietz syndrome 3	12.8
11	loeys-dietz syndrome 5	12.6
12	lipoprotein types--ld system	11.9
13	cleft, median, of upper lip with polyps of facial skin and nasal mucosa	11.3
14	shprintzen-goldberg craniosynostosis syndrome	11.3
15	transient hypogammaglobulinemia of infancy	10.8	TGFBR1 TGFBR2
16	transient hypogammaglobulinemia	10.7	TGFBR1 TGFBR2
17	multilocular clear cell renal cell carcinoma	10.6	TGFB2 TGFB3
18	eisenmenger syndrome	10.6	TGFBR1 TGFBR2
19	tricuspid valve prolapse	10.5	FBN1 SMAD3
20	cerebritis	10.5
21	ehlers-danlos syndrome, hypermobility type	10.5	COL3A1 FBN1
22	stiff skin syndrome	10.5	FBN1 TGFB2
23	aortic aneurysm, familial thoracic 4	10.5	FBN1 MYH11
24	subclavian artery aneurysm	10.5	MYH11 TGFBR2
25	marden-walker syndrome	10.4	FBN1 FBN2
26	tracheal stenosis	10.4	FBN1 TGFB3
27	peyronie's disease	10.4	SMAD3 TGFB2 TGFB3
28	type i	10.4
29	tuberculoid leprosy	10.4	TGFB2 TGFB3
30	mitral valve disease	10.4	FBN1 TGFB2 TGFB3
31	intracranial aneurysm	10.3
32	cerebral aneurysms	10.3
33	larsen-like syndrome	10.3	COL3A1 COL5A2
34	orofacial cleft	10.3	TGFB3 TGFBR1 TGFBR2
35	dental pulp calcification	10.3	FBN1 FBN2 TGFBR2
36	ehlers-danlos syndrome	10.3
37	cervicitis	10.3
38	aortic aneurysm, familial thoracic 2	10.2	ACTA2 FBN1
39	arterial tortuosity syndrome	10.2	COL5A2 TGFBR1
40	familial thoracic aortic aneurysm and dissection	10.2	FBN1 SMAD3 TGFBR1 TGFBR2
41	apnea, obstructive sleep	10.1
42	osteoporosis	10.1
43	spondylolisthesis	10.1
44	atrophoderma vermiculata	10.1
45	adrenoleukodystrophy	10.1
46	myocardial infarction	10.1
47	arteriovenous fistula	10.1
48	dilated cardiomyopathy	10.1
49	hemophagocytic lymphohistiocytosis	10.1
50	distal arthrogryposis	10.1

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

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Symptoms & Phenotypes for Loeys-Dietz Syndrome

Human phenotypes related to Loeys-Dietz Syndrome:

³² (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	tall stature ³²	frequent (33%)	HP:0000098
2	bifid uvula ³²	frequent (33%)	HP:0000193
3	oral cleft ³²	frequent (33%)	HP:0000202
4	high palate ³²	hallmark (90%)	HP:0000218
5	malar flattening ³²	frequent (33%)	HP:0000272
6	hypertelorism ³²	frequent (33%)	HP:0000316
7	micrognathia ³²	frequent (33%)	HP:0000347
8	blue sclerae ³²	frequent (33%)	HP:0000592
9	pectus excavatum ³²	occasional (7.5%)	HP:0000767
10	pectus carinatum ³²	occasional (7.5%)	HP:0000768
11	thin skin ³²	occasional (7.5%)	HP:0000963
12	bruising susceptibility ³²	occasional (7.5%)	HP:0000978
13	atypical scarring of skin ³²	frequent (33%)	HP:0000987
14	striae distensae ³²	frequent (33%)	HP:0001065
15	arachnodactyly ³²	frequent (33%)	HP:0001166
16	craniosynostosis ³²	frequent (33%)	HP:0001363
17	joint dislocation ³²	occasional (7.5%)	HP:0001373
18	patent ductus arteriosus ³²	hallmark (90%)	HP:0001643
19	cardiac arrest ³²	occasional (7.5%)	HP:0001695
20	pes planus ³²	hallmark (90%)	HP:0001763
21	aortic dissection ³²	hallmark (90%)	HP:0002647
22	scoliosis ³²	frequent (33%)	HP:0002650
23	aortic aneurysm ³²	hallmark (90%)	HP:0004942
24	arterial tortuosity ³²	hallmark (90%)	HP:0005116
25	arterial dissection ³²	hallmark (90%)	HP:0005294
26	joint hyperflexibility ³²	occasional (7.5%)	HP:0005692
27	camptodactyly of finger ³²	frequent (33%)	HP:0100490
28	uterine rupture ³²	hallmark (90%)	HP:0100718

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

²⁶ (show all 41)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.94	COL5A2 TMPO
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.94	TGFB2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.94	TGFBR2 TGFB2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	9.94	COL5A2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.94	TGFB2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.94	COL5A2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.94	TGFBR2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.94	TMPO
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.94	TGFBR2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.94	TGFBR2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.94	TMPO
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-128	9.94	COL5A2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-131	9.94	TMPO
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.94	TGFBR2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	9.94	TGFB2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.94	TGFB2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.94	TMPO
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.94	TGFBR2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.94	TGFBR2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.94	TGFBR2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.94	TMPO
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.94	TGFBR2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.94	TGFBR2
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.94	TGFBR2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.94	TGFB2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.94	COL5A2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.94	TMPO
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.94	TGFBR2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.94	TGFB2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.94	TGFBR2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.94	TGFB2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.94	TGFB2 COL5A2
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.94	TGFBR2
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.94	TGFB2 TMPO TGFBR2 COL5A2
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.94	TGFBR2
36	Decreased viability	GR00107-A-1	9.83	TGFBR2
37	Decreased viability	GR00221-A-1	9.83	MYLK TGFBR2 TGFBR1 COL3A1
38	Decreased viability	GR00221-A-2	9.83	COL3A1
39	Decreased viability	GR00221-A-3	9.83	TGFBR2
40	Decreased viability	GR00221-A-4	9.83	MYLK TGFBR2 TGFBR1 COL3A1
41	Decreased viability	GR00402-S-2	9.83	MYLK TGFBR2 TGFBR1 COL3A1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome:

⁴⁶ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.31	TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 SMAD3
2	cellular	MP:0005384	10.26	SMAD3 TGFBR1 TGFB2 TGFBR2 TGFB3 TMPO
3	growth/size/body region	MP:0005378	10.26	SMAD3 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3
4	digestive/alimentary	MP:0005381	10.16	TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 TMPO
5	homeostasis/metabolism	MP:0005376	10.16	TGFB3 SMAD3 TGFBR1 MYH11 TGFB2 MYLK
6	mortality/aging	MP:0010768	10.15	SMAD3 TGFBR1 TGFB2 TGFBR2 MYLK TGFB3
7	embryo	MP:0005380	10.04	TGFB3 SMAD3 TGFBR1 TGFB2 TGFBR2 GREM1
8	integument	MP:0010771	9.98	TMPO SMAD3 TGFBR1 MYH11 COL3A1 COL5A2
9	muscle	MP:0005369	9.97	TGFBR1 TGFB2 TGFBR2 MYLK FBN1 MYH11
10	limbs/digits/tail	MP:0005371	9.95	TMPO TGFB3 SMAD3 TGFB2 FBN2 GREM1
11	respiratory system	MP:0005388	9.85	TGFBR1 TGFB2 TGFBR2 TGFB3 GREM1 COL5A2
12	renal/urinary system	MP:0005367	9.73	SMAD3 MYH11 TGFB2 MYLK GREM1 FBN1
13	skeleton	MP:0005390	9.65	TGFBR1 TGFB2 TGFBR2 MYLK TGFB3 SMAD3
14	vision/eye	MP:0005391	9.17	TGFB3 SMAD3 TGFB2 TGFBR2 FBN2 COL5A2

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Drugs & Therapeutics for Loeys-Dietz Syndrome

Interventional clinical trials:

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

Search NIH Clinical Center for Loeys-Dietz Syndrome

Cochrane evidence based reviews: loeys-dietz syndrome

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Genetic Tests for Loeys-Dietz Syndrome

Genetic tests related to Loeys-Dietz Syndrome:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome ²⁹

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Anatomical Context for Loeys-Dietz Syndrome

MalaCards organs/tissues related to Loeys-Dietz Syndrome:

⁴¹

Bone, Heart, Eye, Brain, Skin, Testes, Spinal Cord

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Publications for Loeys-Dietz Syndrome

Articles related to Loeys-Dietz Syndrome:

(show top 50) (show all 195)

#	Title	Authors	Year
1	Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome. ( 29756196 )	Jakimowicz T....Nazarewski S.	2018
2	Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome. ( 29687491 )	Jaiswal P....Shetty D.	2018
3	Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome. ( 29942909 )	Wang S....Black J.H.	2018
4	Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. ( 29706644 )	Fujiwara T....Komuro I.	2018
5	Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome. ( 29889773 )	Kirby D.J....Sponseller P.D.	2018
6	Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )	Biggin A....AdA"s L.C.	2018
7	Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings. ( 29320330 )	Loughborough W.W....Hamilton M.C.K.	2018
8	Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. ( 29339704 )	Kasar T....GA1zeltaA9 A.	2018
9	Loeys-Dietz syndrome: We have come a (Fur)long way. ( 29891244 )	Estrera A.L.	2018
10	Clip ligation for ruptured intracranial aneurysm in a child with Loeys-Dietz syndrome: case report. ( 29350591 )	Carr S.B....Wilkinson C.C.	2018
11	Obstetric Management of Loeys-Dietz Syndrome. ( 29742657 )	Russo M.L....Morris S.A.	2018
12	Pseudoaneurysm formation after valve sparing root replacement in children with Loeys-Dietz syndrome. ( 29726037 )	Liu R.H....Hibino N.	2018
13	Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome. ( 29901510 )	Chu L.C....Fishman E.K.	2018
14	Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ( 28344185 )	Valenzuela I....Tizzano E.F.	2017
15	Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. ( 28163941 )	Zimmermann M.T....Atwal P.S.	2017
16	Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. ( 28579256 )	Manchola-Linero A....SabatAc-RotAcs A.	2017
17	Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome. ( 28606209 )	Molina-SA!nchez T....Sandoval J.P.	2017
18	Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report. ( 28304197 )	Aoki R....Morisaki H.	2017
19	Perioperative Anesthetic Management for Cesarean Delivery in a Parturient With Type IV Loeys-Dietz Syndrome: A Case Report. ( 28604473 )	Kapoor R....Mossad E.B.	2017
20	Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )	Tooley M.J....Scurr I.J.	2017
21	Teaching Neuro<i>Images</i>: Rare cause of Horner syndrome in Loeys-Dietz syndrome. ( 28972113 )	Cho S.M....Buletko A.B.	2017
22	Ocular findings in Loeys-Dietz syndrome. ( 29146755 )	Busch C....Salchow D.J.	2017
23	4.7a88Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. ( 28544325 )	Gaspar H....Borck G.	2017
24	Loeys-Dietz syndrome with aortic wall necrosis secondary to external wrapping. ( 29293973 )	Yamamoto M....Hiroi M.	2017
25	[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )	Rosental C.F....Capelli H.	2017
26	Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-I^ signaling. ( 28679693 )	Cousin M.A....Klee E.W.	2017
27	Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation. ( 28395736 )	Hu K....Wang C.	2017
28	Loeys-Dietz syndrome and pregnancy: The first ten years. ( 27780078 )	Frise C.J....Mackillop L.	2017
29	Aortic surgery in Loeys-Dietz syndrome: Excellent results, but close surveillance is necessary. ( 27919459 )	Ikonomidis J.S.	2017
30	Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results. ( 27955909 )	Patel N.D....Cameron D.E.	2017
31	Dilated cardiomyopathy associated with elephant trunk in Loeys-Dietz syndrome. ( 28082467 )	Yamana K....Sakurai T.	2017
32	Aortic Root Replacement for Children With Loeys-Dietz Syndrome. ( 28366467 )	Patel N.D....Vricella L.A.	2017
33	Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )	Meester J.A.N....Loeys B.L.	2017
34	Stepwise Total Aortic Repairs With Fenestrated Endografts in a Patient With Loeys-Dietz Syndrome. ( 28633258 )	Hashizume K....Kaneyama H.	2017
35	Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? ( 28209770 )	Woolnough R....Walia J.S.	2017
36	A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 29022822 )	Harky A....Roberts N.	2017
37	Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome. ( 28230898 )	Byard R.W.	2017
38	A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm. ( 28252349 )	Harky A....Roberts N.	2017
39	Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. ( 28541520 )	Krohg-SA...Geiran O.R.	2017
40	Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. ( 27733734 )	Akazawa Y....Inaba Y.	2016
41	Early Diagnosis and Repair of Double Saccular Aneurysms of the Aortic Arch Associated With Aortic Coarctation in an Infant With Loeys-Dietz Syndrome. ( 26655350 )	Ilyin V.N....Ilina M.V.	2016
42	Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. ( 27181042 )	Takeda N....Komuro I.	2016
43	Massive hemoptysis in Loeys-Dietz syndrome. ( 26614122 )	Bennett C.L....Dietz H.C.	2016
44	Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. ( 27125181 )	Braverman A.C....Kouchoukos N.T.	2016
45	Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome. ( 27173863 )	Cereda A....Oreglia J.A.	2016
46	Management of Scoliosis in Patients With Loeys-Dietz Syndrome. ( 27379784 )	Bressner J.A....Sponseller P.D.	2016
47	Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome. ( 26897209 )	Rizzo S....Vida V.L.	2016
48	Genetic testing of 10 patients with features of loeys-dietz syndrome. ( 26877057 )	Luo M....Chang Q.	2016
49	Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome. ( 27521346 )	Ong C.S....Vricella L.	2016
50	Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. ( 26848186 )	TeixidA^-TurA G....Evangelista A.	2016

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Genes for Loeys-Dietz Syndrome

Genes related to Loeys-Dietz Syndrome (3 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	475.37	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	450.22	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	FBN1	Fibrillin 1	Protein Coding	435.84	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	LOC105370518	Uncharacterized LOC105370518 AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway, it may provide a promising target gene to prevent LDS develop in to aortic aneurysm. Dysfunction Pattern: Regulation	RNA Gene	150	Experimental evidence: Regulation ³⁹	26617788
5	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	82.79	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	45.33	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	SMAD3	SMAD Family Member 3	Protein Coding	37	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
8	ACTA2	Actin, Alpha 2, Smooth Muscle, Aorta	Protein Coding	24.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	23.49	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
10	FBN2	Fibrillin 2	Protein Coding	22.51	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	MYH11	Myosin Heavy Chain 11	Protein Coding	22.5	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
12	MYLK	Myosin Light Chain Kinase	Protein Coding	21.87	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
13	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	21.6	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	20.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	TMPO	Thymopoietin	Protein Coding	19.34	GeneCards inferred via : Variants (show sections)

Sources

Variations for Loeys-Dietz Syndrome

ClinVar genetic disease variations for Loeys-Dietz Syndrome:

⁶

(show top 50) (show all 884)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh37	Chromosome 3, 30732970: 30732970
2	TGFBR2	NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His)	single nucleotide variant	Pathogenic	rs104893815	GRCh38	Chromosome 3, 30691478: 30691478
3	TGFBR2	NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)	single nucleotide variant	Pathogenic	rs104893819	GRCh37	Chromosome 3, 30729962: 30729962
4	TGFBR2	NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)	single nucleotide variant	Pathogenic	rs104893819	GRCh38	Chromosome 3, 30688470: 30688470
5	TGFBR1	NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111854391	GRCh37	Chromosome 9, 101900288: 101900288
6	TGFBR1	NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111854391	GRCh38	Chromosome 9, 99138006: 99138006
7	TGFBR1	NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)	single nucleotide variant	Pathogenic	rs113605875	GRCh37	Chromosome 9, 101911535: 101911535
8	TGFBR1	NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)	single nucleotide variant	Pathogenic	rs113605875	GRCh38	Chromosome 9, 99149253: 99149253
9	TGFBR1	NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)	single nucleotide variant	Pathogenic	rs111426349	GRCh37	Chromosome 9, 101911534: 101911534
10	TGFBR1	NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)	single nucleotide variant	Pathogenic	rs111426349	GRCh38	Chromosome 9, 99149252: 99149252
11	FBN1	NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys)	single nucleotide variant	Pathogenic	rs137854478	GRCh37	Chromosome 15, 48780430: 48780430
12	FBN1	NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys)	single nucleotide variant	Pathogenic	rs137854478	GRCh38	Chromosome 15, 48488233: 48488233
13	TGFBR2	NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser)	single nucleotide variant	Likely pathogenic	rs193922660	GRCh37	Chromosome 3, 30713826: 30713826
14	TGFBR2	NM_003242.5(TGFBR2): c.1151A> G (p.Asn384Ser)	single nucleotide variant	Likely pathogenic	rs193922660	GRCh38	Chromosome 3, 30672334: 30672334
15	TGFBR2	NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg)	single nucleotide variant	Likely pathogenic	rs193922664	GRCh37	Chromosome 3, 30732927: 30732927
16	TGFBR2	NM_003242.5(TGFBR2): c.1540T> C (p.Cys514Arg)	single nucleotide variant	Likely pathogenic	rs193922664	GRCh38	Chromosome 3, 30691435: 30691435
17	TGFBR2	NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser)	single nucleotide variant	Likely pathogenic	rs193922665	GRCh37	Chromosome 3, 30691808: 30691808
18	TGFBR2	NM_003242.5(TGFBR2): c.310C> T (p.Pro104Ser)	single nucleotide variant	Likely pathogenic	rs193922665	GRCh38	Chromosome 3, 30650316: 30650316
19	TGFBR2	NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter)	single nucleotide variant	Likely pathogenic	rs397516840	GRCh37	Chromosome 3, 30729974: 30729974
20	TGFBR2	NM_003242.5(TGFBR2): c.1495G> T (p.Glu499Ter)	single nucleotide variant	Likely pathogenic	rs397516840	GRCh38	Chromosome 3, 30688482: 30688482
21	COL3A1	NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg)	single nucleotide variant	Likely pathogenic	rs587779715	GRCh37	Chromosome 2, 189872815: 189872815
22	COL3A1	NM_000090.3(COL3A1): c.3472G> C (p.Gly1158Arg)	single nucleotide variant	Likely pathogenic	rs587779715	GRCh38	Chromosome 2, 189008089: 189008089
23	SMAD3	NM_005902.3(SMAD3): c.364G> A (p.Val122Met)	single nucleotide variant	Uncertain significance	rs587782977	GRCh38	Chromosome 15, 67165052: 67165052
24	SMAD3	NM_005902.3(SMAD3): c.364G> A (p.Val122Met)	single nucleotide variant	Uncertain significance	rs587782977	GRCh37	Chromosome 15, 67457390: 67457390
25	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh37	Chromosome 1, 218607532: 218607532
26	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh38	Chromosome 1, 218434190: 218434190
27	TGFBR2	NM_003242.5(TGFBR2): c.1382G> A (p.Cys461Tyr)	single nucleotide variant	Likely pathogenic	rs587782979	GRCh37	Chromosome 3, 30715724: 30715724
28	TGFBR2	NM_003242.5(TGFBR2): c.1382G> A (p.Cys461Tyr)	single nucleotide variant	Likely pathogenic	rs587782979	GRCh38	Chromosome 3, 30674232: 30674232
29	COL3A1	NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh37	Chromosome 2, 189875018: 189875018
30	COL3A1	NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh38	Chromosome 2, 189010292: 189010292
31	TGFBR2	NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112215250	GRCh37	Chromosome 3, 30733044: 30733044
32	TGFBR2	NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112215250	GRCh38	Chromosome 3, 30691552: 30691552
33	MYH11	NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150759461	GRCh37	Chromosome 16, 15872688: 15872688
34	MYH11	NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150759461	GRCh38	Chromosome 16, 15778831: 15778831
35	TGFBR2	NM_001024847.2(TGFBR2): c.1621_1632delACGTTGACTGAG (p.Thr541_Glu544del)	deletion	Likely pathogenic	rs876658120	GRCh38	Chromosome 3, 30691441: 30691452
36	TGFBR2	NM_001024847.2(TGFBR2): c.1621_1632delACGTTGACTGAG (p.Thr541_Glu544del)	deletion	Likely pathogenic	rs876658120	GRCh37	Chromosome 3, 30732933: 30732944
37	TGFBR2	NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs727503476	GRCh37	Chromosome 3, 30732967: 30732967
38	TGFBR2	NM_003242.5(TGFBR2): c.1580C> T (p.Ala527Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs727503476	GRCh38	Chromosome 3, 30691475: 30691475
39	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh37	Chromosome 3, 30713742: 30713742
40	TGFBR2	NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro)	single nucleotide variant	Pathogenic	rs727504292	GRCh38	Chromosome 3, 30672250: 30672250
41	TGFBR2	NM_003242.5(TGFBR2): c.1524+1G> A	single nucleotide variant	Likely pathogenic	rs727503475	GRCh37	Chromosome 3, 30730004: 30730004
42	TGFBR2	NM_003242.5(TGFBR2): c.1524+1G> A	single nucleotide variant	Likely pathogenic	rs727503475	GRCh38	Chromosome 3, 30688512: 30688512
43	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh37	Chromosome 9, 101867557: 101867565
44	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh38	Chromosome 9, 99105275: 99105283
45	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh37	Chromosome 9, 101894862: 101894862
46	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh38	Chromosome 9, 99132580: 99132580
47	TGFB2	NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter)	single nucleotide variant	Likely pathogenic	rs730880221	GRCh37	Chromosome 1, 218607457: 218607457
48	TGFB2	NM_001135599.3(TGFB2): c.628C> T (p.Gln210Ter)	single nucleotide variant	Likely pathogenic	rs730880221	GRCh38	Chromosome 1, 218434115: 218434115
49	TGFBR2	NM_003242.5(TGFBR2): c.1277C> T (p.Ala426Val)	single nucleotide variant	Likely pathogenic	rs730880224	GRCh38	Chromosome 3, 30674127: 30674127
50	COL5A2	NM_000393.4(COL5A2): c.2795T> C (p.Leu932Pro)	single nucleotide variant	Uncertain significance	rs730880067	GRCh37	Chromosome 2, 189916182: 189916182

Sources

Expression for Loeys-Dietz Syndrome

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

Sources

Pathways for Loeys-Dietz Syndrome

Pathways related to Loeys-Dietz Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	MAPK signaling pathway	hsa04010
2	Cytokine-cytokine receptor interaction	hsa04060
3	Endocytosis	hsa04144
4	TGF-beta signaling pathway	hsa04350
5	Osteoclast differentiation	hsa04380
6	Hippo signaling pathway	hsa04390
7	Adherens junction	hsa04520

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

(show top 50) (show all 51)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.68	ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
2	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.25	ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFB3
3	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.14	ACTA2 COL3A1 COL5A2 FBN1 FBN2 MYH11
4	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	12.97	ACTA2 COL3A1 SMAD3 TGFBR1 TGFBR2
5	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.97	ACTA2 COL3A1 COL5A2 FBN1 FBN2 TGFB2
6	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.95	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
7	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.91	ACTA2 MYH11 TGFB2 TGFB3 TGFBR1 TGFBR2
8	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.86	ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
9	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.83	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10	Pathways in cancer ³⁷	12.8	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
11	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.74	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.73	COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
13	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.53	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.52	SMAD3 TGFB2 TGFB3 TGFBR1
15	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.47	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
16	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.44	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
17	HTLV-I infection ³⁷	12.42	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
18	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ IL-6-type cytokine receptor ligand interactions ⁶⁶ Interleukin-6 family signaling ⁶⁶ Interleukin-6 signaling ⁶⁶ Th17 Differentiation Pathway ⁶⁵	12.24	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19	Wnt / Hedgehog / Notch ⁴	12.22	GREM1 SMAD3 TGFB2 TGFB3 TGFBR1
20	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.21	SMAD3 TGFB2 TGFBR1 TGFBR2
21	Colorectal Cancer Metastasis ⁶⁴	12.16	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22	Cellular senescence (KEGG) ³⁷	12.14	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
23	Hippo signaling pathway ³⁷	12.11	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
24	Apelin signaling pathway ³⁷	12.09	ACTA2 MYLK SMAD3 TGFBR1
25	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	12.07	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
26	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.05	SMAD3 TGFBR1 TGFBR2
27	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.03	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
28	TGF-beta Signaling Pathway (WikiPathways) ¹	12.01	SMAD3 TGFBR1 TGFBR2
29	Osteoclast differentiation ³⁷	11.99	TGFB2 TGFBR1 TGFBR2
30	SMAD Signaling Network ⁶⁴	11.88	ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31	Angiogenesis (CST) ⁴	11.86	GREM1 TGFB2 TGFB3 TGFBR1
32	Amoebiasis ³⁷	11.85	COL3A1 TGFB2 TGFB3
33	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.84	SMAD3 TGFBR1 TGFBR2
34	TGF-beta Signaling Pathways ⁶⁵	11.84	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
35	Loss of Function of SMAD2/3 in Cancer ⁶⁶ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD4 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Loss of Function of TGFBR2 in Cancer ⁶⁶ SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁶ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁶ SMAD4 MH2 Domain Mutants in Cancer ⁶⁶ TGFBR1 KD Mutants in Cancer ⁶⁶ TGFBR1 LBD Mutants in Cancer ⁶⁶ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁶ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁶	11.78	GREM1 SMAD3 TGFBR1 TGFBR2
36	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.74	FBN1 FBN2 TGFB2 TGFB3
37	Adherens junction ³⁷	11.72	SMAD3 TGFBR1 TGFBR2
38	Development_TGF-beta receptor signaling ²²	11.72	SMAD3 TGFBR1 TGFBR2
39	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶	11.7	SMAD3 TGFBR1 TGFBR2
40	TGF-beta signaling pathway (KEGG) ³⁷	11.69	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
41	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.63	COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
42	TGF-beta Receptor Signaling (WikiPathways) ¹	11.61	SMAD3 TGFBR1 TGFBR2
43	Cell adhesion_Plasmin signaling ²²	11.54	TGFB2 TGFBR1 TGFBR2
44	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.52	SMAD3 TGFB3 TGFBR1 TGFBR2
45	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.4	SMAD3 TGFB2 TGFBR1 TGFBR2
46	Smooth Muscle Contraction ⁶⁶	11.39	ACTA2 MYH11 MYLK
47	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.25	TGFB3 TGFBR1 TGFBR2
48	Glypican 1 network ¹	11.22	TGFB3 TGFBR1 TGFBR2
49	NTHi-Induced Signaling ⁶⁴	11.11	SMAD3 TGFBR1 TGFBR2
50	Extracellular vesicle-mediated signaling in recipient cells ¹	10.83	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

Sources

GO Terms for Loeys-Dietz Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.8	ACTA2 COL3A1 COL5A2 FBN1 GREM1 TGFB2
2	microfibril	GO:0001527	9.16	FBN1 FBN2
3	extracellular matrix	GO:0031012	9.1	COL3A1 COL5A2 FBN1 FBN2 TGFB2 TGFB3
4	transforming growth factor beta receptor complex	GO:0070022	8.96	TGFBR1 TGFBR2

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

(show top 50) (show all 55)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.95	COL3A1 COL5A2 FBN1 FBN2
2	in utero embryonic development	GO:0001701	9.94	SMAD3 TGFB3 TGFBR1 TGFBR2
3	response to hypoxia	GO:0001666	9.9	SMAD3 TGFB2 TGFB3 TGFBR2
4	cell cycle arrest	GO:0007050	9.89	SMAD3 TGFB2 TGFBR1
5	heart development	GO:0007507	9.89	COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
6	negative regulation of cell growth	GO:0030308	9.88	GREM1 SMAD3 TGFB2
7	muscle contraction	GO:0006936	9.87	ACTA2 MYH11 MYLK
8	kidney development	GO:0001822	9.87	FBN1 TGFB2 TGFBR1
9	SMAD protein signal transduction	GO:0060395	9.83	SMAD3 TGFB2 TGFB3
10	cellular response to transforming growth factor beta stimulus	GO:0071560	9.83	FBN1 SMAD3 TGFBR1
11	embryonic limb morphogenesis	GO:0030326	9.81	FBN2 GREM1 TGFB2
12	positive regulation of stress fiber assembly	GO:0051496	9.8	SMAD3 TGFB3 TGFBR1
13	skeletal system development	GO:0001501	9.8	COL3A1 COL5A2 FBN1 SMAD3 TGFB2 TGFBR1
14	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.79	TGFB2 TGFB3 TGFBR1
15	roof of mouth development	GO:0060021	9.78	TGFB2 TGFB3 TGFBR1 TGFBR2
16	digestive tract development	GO:0048565	9.77	COL3A1 TGFB3 TGFBR2
17	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.76	SMAD3 TGFB3 TGFBR1 TGFBR2
18	positive regulation of bone mineralization	GO:0030501	9.74	FBN2 SMAD3 TGFB3
19	ventricular septum morphogenesis	GO:0060412	9.73	TGFB2 TGFBR1 TGFBR2
20	outflow tract septum morphogenesis	GO:0003148	9.72	TGFB2 TGFBR2
21	embryonic cranial skeleton morphogenesis	GO:0048701	9.72	SMAD3 TGFBR1 TGFBR2
22	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.71	SMAD3 TGFB2
23	cell growth	GO:0016049	9.71	TGFB2 TGFB3
24	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.71	TGFBR1 TGFBR2
25	smooth muscle contraction	GO:0006939	9.71	MYH11 MYLK
26	negative regulation of chondrocyte differentiation	GO:0032331	9.7	GREM1 TGFBR1
27	ventricular trabecula myocardium morphogenesis	GO:0003222	9.7	TGFB2 TGFBR1
28	activin receptor signaling pathway	GO:0032924	9.7	SMAD3 TGFBR1
29	cardiac epithelial to mesenchymal transition	GO:0060317	9.69	TGFB2 TGFBR1
30	cell-cell junction organization	GO:0045216	9.69	SMAD3 TGFB2 TGFB3
31	regulation of epithelial to mesenchymal transition	GO:0010717	9.68	GREM1 TGFBR1
32	positive regulation of SMAD protein signal transduction	GO:0060391	9.68	TGFB3 TGFBR1
33	atrioventricular valve morphogenesis	GO:0003181	9.68	TGFB2 TGFBR2
34	membranous septum morphogenesis	GO:0003149	9.68	TGFB2 TGFBR2
35	response to cholesterol	GO:0070723	9.67	TGFBR1 TGFBR2
36	embryonic eye morphogenesis	GO:0048048	9.67	FBN1 FBN2
37	salivary gland morphogenesis	GO:0007435	9.67	TGFB2 TGFB3
38	negative regulation of osteoblast proliferation	GO:0033689	9.66	GREM1 SMAD3
39	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.65	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
40	negative regulation of macrophage cytokine production	GO:0010936	9.63	TGFB2 TGFB3
41	aorta smooth muscle tissue morphogenesis	GO:0060414	9.63	COL3A1 MYLK
42	regulation of transforming growth factor beta2 production	GO:0032909	9.61	SMAD3 TGFB2
43	regulation of cellular response to growth factor stimulus	GO:0090287	9.61	FBN1 FBN2
44	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.61	TGFB2 TGFBR1 TGFBR2
45	endocardial cushion fusion	GO:0003274	9.58	TGFB2 TGFBR2
46	sequestering of TGFbeta in extracellular matrix	GO:0035583	9.58	FBN1 FBN2
47	secondary palate development	GO:0062009	9.58	TGFB2 TGFB3 TGFBR2
48	collagen fibril organization	GO:0030199	9.55	COL3A1 COL5A2 GREM1 TGFB2 TGFBR1
49	uterine wall breakdown	GO:0042704	9.54	TGFB2 TGFB3
50	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	9.54	TGFB2 TGFBR1 TGFBR2

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor binding	GO:0005160	9.54	SMAD3 TGFB2 TGFB3
2	obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity	GO:0004702	9.51	TGFBR1 TGFBR2
3	BMP receptor binding	GO:0070700	9.49	TGFB2 TGFB3
4	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.48	TGFBR1 TGFBR2
5	type I transforming growth factor beta receptor binding	GO:0034713	9.46	TGFB3 TGFBR2
6	extracellular matrix structural constituent	GO:0005201	9.46	COL3A1 COL5A2 FBN1 FBN2
7	transforming growth factor beta-activated receptor activity	GO:0005024	9.43	TGFBR1 TGFBR2
8	transforming growth factor beta binding	GO:0050431	9.43	TGFB3 TGFBR1 TGFBR2
9	extracellular matrix constituent conferring elasticity	GO:0030023	9.4	FBN1 FBN2
10	type III transforming growth factor beta receptor binding	GO:0034714	9.32	TGFB2 TGFB3
11	type II transforming growth factor beta receptor binding	GO:0005114	9.13	TGFB2 TGFB3 TGFBR1
12	SMAD binding	GO:0046332	9.02	COL3A1 COL5A2 SMAD3 TGFBR1 TGFBR2

Sources

Sources for Loeys-Dietz Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia