Loeys-Dietz Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYS019 MIFTS: 45	Loeys-Dietz Syndrome 1 Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 ⁵⁷ ⁵³ ⁷⁵ ²⁹ ⁶

Loeys-Dietz Aortic Aneurysm Syndrome ⁵⁷ ⁷⁵ ⁷³

Furlong Syndrome ⁵⁷ ⁷⁵ ⁷³

Loeys-Dietz Syndrome Type 1 ⁵³ ⁷³

Lds1 ⁵⁷ ⁷⁵

Aat5 ⁵⁷ ⁷⁵

Marfanoid Disorder-Craniosynostosis Syndrome ⁷⁵

Aortic Aneurysm, Familial Thoracic 5; Aat5 ⁵⁷

Aortic Aneurysm, Familial Thoracic 5 ⁵⁷

Familial Thoracic Aortic Aneurysm 5 ⁷⁵

Syndrome, Loeys-Dietz, Type 1 ⁴⁰

Loeys-Dietz Syndrome, Type 2a ⁷³

Ldas ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

loeys-dietz syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609192

MedGen ⁴² C1836635 C2697933 C2931764

MeSH ⁴⁴ D055947

SNOMED-CT via HPO ⁶⁹ 263681008 63567004 87979003 more

UMLS ⁷³ C2931764 C2674127 C2697933

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Summaries for Loeys-Dietz Syndrome 1

OMIM : ⁵⁷ 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 loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome and loeys-dietz syndrome 5. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Development EGFR signaling pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include skin, brain and spleen, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁵ 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

Diseases related to Loeys-Dietz Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome	31.0	TGFBR1 TGFBR2
2	loeys-dietz syndrome 5	11.0
3	diabetes mellitus	9.9
4	extrapulmonary tuberculosis	9.9
5	angiomyoma	9.9
6	familial thoracic aortic aneurysm and dissection	9.7	TGFBR1 TGFBR2
7	transient hypogammaglobulinemia of infancy	9.7	TGFBR1 TGFBR2
8	transient hypogammaglobulinemia	9.7	TGFBR1 TGFBR2
9	eisenmenger syndrome	9.6	TGFBR1 TGFBR2
10	multiple self-healing squamous epithelioma	9.6	TGFBR1 TGFBR2
11	aortic aneurysm, familial thoracic 1	9.6	TGFBR1 TGFBR2
12	aortic disease	9.6	TGFBR1 TGFBR2
13	marfan syndrome	9.5	TGFBR1 TGFBR2
14	aneurysm	9.5	TGFBR1 TGFBR2
15	aortic aneurysm	9.4	TGFBR1 TGFBR2
16	craniosynostosis	9.3	TGFBR1 TGFBR2
17	orofacial cleft	9.2	TGFBR1 TGFBR2
18	type i	9.0	TGFBR1 TGFBR2

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

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

Skeletal Feet:
talipes equinovarus

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)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Spine:
scoliosis

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

Skeletal:
joint laxity

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

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Growth Other:
dolichostenomelia (uncommon)

Skin Nails Hair Skin:
velvety texture
translucent skin

Clinical features from OMIM:

609192

Human phenotypes related to Loeys-Dietz Syndrome 1:

³² (show all 36)

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

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

²⁶ (show all 39)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	10.33	TGFBR2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10.33	TGFBR2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	10.33	TGFBR2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-165	10.33	TGFBR1 TGFBR2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-180	10.33	TGFBR1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-20	10.33	TGFBR2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	10.33	TGFBR1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	10.33	TGFBR1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	10.33	TGFBR2
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	10.33	TGFBR1 TGFBR2
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-65	10.33	TGFBR2
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-77	10.33	TGFBR1
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	10.33	TGFBR2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.98	TGFBR2 TGFBR1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.98	TGFBR2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.98	TGFBR2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.98	TGFBR2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.98	TGFBR2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.98	TGFBR2 TGFBR1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.98	TGFBR2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.98	TGFBR2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.98	TGFBR2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.98	TGFBR1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.98	TGFBR2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.98	TGFBR2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.98	TGFBR2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	9.98	TGFBR1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.98	TGFBR1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.98	TGFBR2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.98	TGFBR2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.98	TGFBR2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.98	TGFBR2
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.98	TGFBR1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.98	TGFBR1
35	Decreased viability	GR00107-A-1	9.56	TGFBR2
36	Decreased viability	GR00221-A-1	9.56	TGFBR1 TGFBR2
37	Decreased viability	GR00221-A-3	9.56	TGFBR2
38	Decreased viability	GR00221-A-4	9.56	TGFBR1 TGFBR2
39	Decreased viability	GR00402-S-2	9.56	TGFBR1 TGFBR2

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Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 1

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Genetic Tests for Loeys-Dietz Syndrome 1

Genetic tests related to Loeys-Dietz Syndrome 1:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 1 ²⁹	TGFBR1

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Anatomical Context for Loeys-Dietz Syndrome 1

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

⁴¹

Skin, Brain, Spleen, Uterus

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Publications for Loeys-Dietz Syndrome 1

Articles related to Loeys-Dietz Syndrome 1:

#	Title	Authors	Year
1	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 )	Ki C.S....Yoo H.W.	2005

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Genes for Loeys-Dietz Syndrome 1

Genes related to Loeys-Dietz Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1355.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15731757 20301312 21522183 (more) 22237449 23788249 25173340 25356965 27854360 16928994 16596670 16791849 19542084 2647812 18070134
2	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	42.72	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301312 21522183 22237449 (more) 23788249 25173340 25356965 27854360

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Variations for Loeys-Dietz Syndrome 1

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

⁷⁵ (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 238)

#	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_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111854391	GRCh37	Chromosome 9, 101900288: 101900288
10	TGFBR1	NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111854391	GRCh38	Chromosome 9, 99138006: 99138006
11	TGFBR1	NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)	single nucleotide variant	Pathogenic	rs113605875	GRCh37	Chromosome 9, 101911535: 101911535
12	TGFBR1	NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)	single nucleotide variant	Pathogenic	rs113605875	GRCh38	Chromosome 9, 99149253: 99149253
13	TGFBR1	NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)	single nucleotide variant	Pathogenic	rs111426349	GRCh37	Chromosome 9, 101911534: 101911534
14	TGFBR1	NM_004612.3(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	TGFBR2	NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr)	single nucleotide variant	Uncertain significance	rs148665451	GRCh37	Chromosome 3, 30713660: 30713660
18	TGFBR2	NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr)	single nucleotide variant	Uncertain significance	rs148665451	GRCh38	Chromosome 3, 30672168: 30672168
19	TGFBR1	NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser)	single nucleotide variant	Uncertain significance	rs141259922	GRCh37	Chromosome 9, 101911508: 101911508
20	TGFBR1	NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser)	single nucleotide variant	Uncertain significance	rs141259922	GRCh38	Chromosome 9, 99149226: 99149226
21	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh37	Chromosome 9, 101867557: 101867565
22	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh38	Chromosome 9, 99105275: 99105283
23	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh37	Chromosome 9, 101894862: 101894862
24	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh38	Chromosome 9, 99132580: 99132580
25	TGFBR1	NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile)	single nucleotide variant	Likely benign	rs56014374	GRCh38	Chromosome 9, 99132622: 99132622
26	TGFBR1	NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile)	single nucleotide variant	Likely benign	rs56014374	GRCh37	Chromosome 9, 101894904: 101894904
27	TGFBR1	NM_004612.3(TGFBR1): c.575-9dupT	duplication	Benign/Likely benign	rs863223798	GRCh37	Chromosome 9, 101900132: 101900132
28	TGFBR1	NM_004612.3(TGFBR1): c.575-9dupT	duplication	Benign/Likely benign	rs863223798	GRCh38	Chromosome 9, 99137850: 99137850
29	TGFBR1	NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val)	single nucleotide variant	Uncertain significance	rs200018073	GRCh37	Chromosome 9, 101900179: 101900179
30	TGFBR1	NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val)	single nucleotide variant	Uncertain significance	rs200018073	GRCh38	Chromosome 9, 99137897: 99137897
31	TGFBR2	NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039551	GRCh37	Chromosome 3, 30715678: 30715678
32	TGFBR2	NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039551	GRCh38	Chromosome 3, 30674186: 30674186
33	TGFBR1	NM_004612.3(TGFBR1): c.-43C> A	single nucleotide variant	Uncertain significance	rs886063219	GRCh37	Chromosome 9, 101867445: 101867445
34	TGFBR1	NM_004612.3(TGFBR1): c.-43C> A	single nucleotide variant	Uncertain significance	rs886063219	GRCh38	Chromosome 9, 99105163: 99105163
35	TGFBR1	NM_004612.3(TGFBR1): c.666A> G (p.Gly222=)	single nucleotide variant	Uncertain significance	rs886063223	GRCh37	Chromosome 9, 101900232: 101900232
36	TGFBR1	NM_004612.3(TGFBR1): c.666A> G (p.Gly222=)	single nucleotide variant	Uncertain significance	rs886063223	GRCh38	Chromosome 9, 99137950: 99137950
37	TGFBR1	NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=)	single nucleotide variant	Uncertain significance	rs886063225	GRCh38	Chromosome 9, 99149236: 99149236
38	TGFBR1	NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=)	single nucleotide variant	Uncertain significance	rs886063225	GRCh37	Chromosome 9, 101911518: 101911518
39	TGFBR1	NM_004612.3(TGFBR1): c.*69A> G	single nucleotide variant	Benign	rs868	GRCh38	Chromosome 9, 99149374: 99149374
40	TGFBR1	NM_004612.3(TGFBR1): c.*69A> G	single nucleotide variant	Benign	rs868	GRCh37	Chromosome 9, 101911656: 101911656
41	TGFBR1	NM_004612.3(TGFBR1): c.*709C> T	single nucleotide variant	Uncertain significance	rs886063228	GRCh37	Chromosome 9, 101912296: 101912296
42	TGFBR1	NM_004612.3(TGFBR1): c.*709C> T	single nucleotide variant	Uncertain significance	rs886063228	GRCh38	Chromosome 9, 99150014: 99150014
43	TGFBR1	NM_004612.3(TGFBR1): c.*1183G> A	single nucleotide variant	Likely benign	rs184564501	GRCh37	Chromosome 9, 101912770: 101912770
44	TGFBR1	NM_004612.3(TGFBR1): c.*1183G> A	single nucleotide variant	Likely benign	rs184564501	GRCh38	Chromosome 9, 99150488: 99150488
45	TGFBR1	NM_004612.3(TGFBR1): c.*1368C> A	single nucleotide variant	Uncertain significance	rs886063231	GRCh37	Chromosome 9, 101912955: 101912955
46	TGFBR1	NM_004612.3(TGFBR1): c.*1368C> A	single nucleotide variant	Uncertain significance	rs886063231	GRCh38	Chromosome 9, 99150673: 99150673
47	TGFBR1	NM_004612.3(TGFBR1): c.*1924G> T	single nucleotide variant	Uncertain significance	rs886063236	GRCh37	Chromosome 9, 101913511: 101913511
48	TGFBR1	NM_004612.3(TGFBR1): c.*1924G> T	single nucleotide variant	Uncertain significance	rs886063236	GRCh38	Chromosome 9, 99151229: 99151229
49	TGFBR1	NM_004612.3(TGFBR1): c.*2005T> G	single nucleotide variant	Likely benign	rs144216869	GRCh37	Chromosome 9, 101913592: 101913592
50	TGFBR1	NM_004612.3(TGFBR1): c.*2005T> G	single nucleotide variant	Likely benign	rs144216869	GRCh38	Chromosome 9, 99151310: 99151310

Sources

Expression for Loeys-Dietz Syndrome 1

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

Sources

Pathways for Loeys-Dietz Syndrome 1

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

(show all 37)

#	Super pathways	Score	Top Affiliating Genes
1	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	12.15	TGFBR1 TGFBR2
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.11	TGFBR1 TGFBR2
3	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.08	TGFBR1 TGFBR2
4	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.08	TGFBR1 TGFBR2
5	HTLV-I infection ³⁷	12.06	TGFBR1 TGFBR2
6	Endocytosis ³⁷	12.04	TGFBR1 TGFBR2
7	Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer ⁶⁶ Show member pathways Downregulation of SMAD2/3-SMAD4 transcriptional activity ⁶⁶ Interactions of Tat with host cellular proteins ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	11.95	TGFBR1 TGFBR2
8	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	11.92	TGFBR1 TGFBR2
9	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	11.88	TGFBR1 TGFBR2
10	Colorectal Cancer Metastasis ⁶⁴	11.85	TGFBR1 TGFBR2
11	mTOR Pathway ⁷² Show member pathways Insulin Pathway ⁷² TGF-beta Pathway ⁷²	11.83	TGFBR1 TGFBR2
12	Cellular senescence (KEGG) ³⁷	11.82	TGFBR1 TGFBR2
13	Hippo signaling pathway ³⁷	11.8	TGFBR1 TGFBR2
14	Integrated Breast Cancer Pathway ¹	11.79	TGFBR1 TGFBR2
15	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	11.76	TGFBR1 TGFBR2
16	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.73	TGFBR1 TGFBR2
17	SMAD Signaling Network ⁶⁴	11.72	TGFBR1 TGFBR2
18	TGF-beta Signaling Pathway (WikiPathways) ¹	11.71	TGFBR1 TGFBR2
19	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.69	TGFBR1 TGFBR2
20	Osteoclast differentiation ³⁷	11.68	TGFBR1 TGFBR2
21	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.56	TGFBR1 TGFBR2
22	TGF-beta Signaling Pathways ⁶⁵	11.54	TGFBR1 TGFBR2
23	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.52	TGFBR1 TGFBR2
24	TGF-beta signaling pathway (KEGG) ³⁷	11.46	TGFBR1 TGFBR2
25	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	11.41	TGFBR1 TGFBR2
26	Adherens junction ³⁷	11.37	TGFBR1 TGFBR2
27	Development_TGF-beta receptor signaling ²²	11.35	TGFBR1 TGFBR2
28	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	11.32	TGFBR1 TGFBR2
29	TGF-beta Receptor Signaling (WikiPathways) ¹	11.22	TGFBR1 TGFBR2
30	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.14	TGFBR1 TGFBR2
31	Cell adhesion_Plasmin signaling ²²	11.09	TGFBR1 TGFBR2
32	Extracellular vesicle-mediated signaling in recipient cells ¹	10.85	TGFBR1 TGFBR2
33	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	10.85	TGFBR1 TGFBR2
34	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	10.75	TGFBR1 TGFBR2
35	Glypican 1 network ¹	10.67	TGFBR1 TGFBR2
36	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.35	TGFBR1 TGFBR2
37	NTHi-Induced Signaling ⁶⁴	9.95	TGFBR1 TGFBR2

Sources

GO Terms for Loeys-Dietz Syndrome 1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:0045121	9.16	TGFBR1 TGFBR2
2	receptor complex	GO:0043235	8.96	TGFBR1 TGFBR2
3	transforming growth factor beta receptor complex	GO:0070022	8.62	TGFBR1 TGFBR2

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.58	TGFBR1 TGFBR2
2	regulation of gene expression	GO:0010468	9.58	TGFBR1 TGFBR2
3	in utero embryonic development	GO:0001701	9.57	TGFBR1 TGFBR2
4	peptidyl-serine phosphorylation	GO:0018105	9.56	TGFBR1 TGFBR2
5	transforming growth factor beta receptor signaling pathway	GO:0007179	9.55	TGFBR1 TGFBR2
6	wound healing	GO:0042060	9.54	TGFBR1 TGFBR2
7	roof of mouth development	GO:0060021	9.52	TGFBR1 TGFBR2
8	signal transduction by protein phosphorylation	GO:0023014	9.51	TGFBR1 TGFBR2
9	peptidyl-threonine phosphorylation	GO:0018107	9.49	TGFBR1 TGFBR2
10	regulation of growth	GO:0040008	9.48	TGFBR1 TGFBR2
11	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.46	TGFBR1 TGFBR2
12	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.43	TGFBR1 TGFBR2
13	lens development in camera-type eye	GO:0002088	9.4	TGFBR1 TGFBR2
14	ventricular septum morphogenesis	GO:0060412	9.37	TGFBR1 TGFBR2
15	embryonic cranial skeleton morphogenesis	GO:0048701	9.32	TGFBR1 TGFBR2
16	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.26	TGFBR1 TGFBR2
17	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.16	TGFBR1 TGFBR2
18	response to cholesterol	GO:0070723	8.96	TGFBR1 TGFBR2
19	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	8.62	TGFBR1 TGFBR2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein serine/threonine kinase activity	GO:0004674	9.37	TGFBR1 TGFBR2
2	SMAD binding	GO:0046332	9.32	TGFBR1 TGFBR2
3	transforming growth factor beta binding	GO:0050431	9.26	TGFBR1 TGFBR2
4	obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity	GO:0004702	9.16	TGFBR1 TGFBR2
5	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	8.96	TGFBR1 TGFBR2
6	transforming growth factor beta-activated receptor activity	GO:0005024	8.62	TGFBR1 TGFBR2

Sources

Sources for Loeys-Dietz Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia