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

LDS1 MCID: LYS019 MIFTS: 52	Loeys-Dietz Syndrome 1 (LDS1) Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes 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 ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵

Furlong Syndrome ⁵⁷ ¹² ⁷⁵ ⁷³

Loeys-Dietz Aortic Aneurysm Syndrome ⁵⁷ ⁷⁵ ⁷³

Lds1 ⁵⁷ ¹² ⁷⁵

Aat5 ⁵⁷ ¹² ⁷⁵

Loeys-Dietz Syndrome Type 1 ⁵³ ⁷³

Marfanoid Disorder-Craniosynostosis Syndrome ⁷⁵

Aortic Aneurysm, Familial Thoracic 5; Aat5 ⁵⁷

Aortic Aneurysm, Familial Thoracic 5 ⁵⁷

Familial Throacic Aortic Aneurysm 5 ¹²

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 Fetal diseases
Anatomical: Eye diseases Bone diseases Cardiovascular diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609192

Disease Ontology ¹² DOID:0070235

MedGen ⁴² C1836635 C2697933 C2931764

MeSH ⁴⁴ D055947

SNOMED-CT via HPO ⁶⁹ 263681008 63567004 87979003 more

UMLS ⁷³ C1836635 C2931764 C2674127 more

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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 furlong syndrome, is related to loeys-dietz syndrome and aortic aneurysm. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include skin, brain and spleen, and related phenotypes are malar flattening and hypertelorism

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

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 in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

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

(show all 28)

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome	31.2	COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
2	aortic aneurysm	29.8	COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
3	loeys-dietz syndrome 5	11.1
4	transient hypogammaglobulinemia	10.2	TGFBR1 TGFBR2
5	cutis laxa, autosomal recessive, type ic	10.2	TGFBR1 TGFBR2
6	familial abdominal aortic aneurysm	10.1	COL3A1 FBN1
7	subclavian artery aneurysm	10.1	MYH11 TGFBR2
8	char syndrome	10.1	COL3A1 FBN1 TGFBR2
9	dental pulp calcification	10.1	FBN1 TGFBR2
10	tricuspid valve prolapse	10.1	FBN1 SMAD3
11	stiff skin syndrome	10.0	FBN1 TGFB2
12	loeys-dietz syndrome 2	10.0	GOT1 GPT2 MYH11 TGFBR2
13	marfan syndrome	10.0	COL3A1 FBN1 TGFBR1 TGFBR2
14	diabetes mellitus, noninsulin-dependent	10.0
15	lichen sclerosus et atrophicus	10.0
16	stroke, ischemic	10.0
17	diabetes mellitus	10.0
18	extrapulmonary tuberculosis	10.0
19	angiomyoma	10.0
20	coenurosis	10.0	GOT2 LDHA
21	loeys-dietz syndrome 4	9.9	SMAD3 TGFB2 TGFBR1 TGFBR2
22	histidine metabolism disease	9.9	GOT1 GOT2 SERPINA1
23	histidinemia	9.9	GOT1 GOT2 SERPINA1
24	aortic disease	9.9	FBN1 MYH11 TGFB2 TGFBR1 TGFBR2
25	familial thoracic aortic aneurysm and dissection	9.8	COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
26	subendocardial myocardial infarction	9.8	LDHA SERPINA1
27	loeys-dietz syndrome 3	9.6	COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
28	aortic aneurysm, familial thoracic 1	9.6	COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1

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:
joint laxity

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

Neurologic Central Nervous System:
mental retardation (uncommon)
developmental delay (uncommon)
chiari malformation (uncommon)
hydrocephalus (uncommon)

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

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 Feet:
talipes equinovarus

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	joint laxity ³²	frequent (33%)	HP:0001388
14	talipes equinovarus ³²	frequent (33%)	HP:0001762
15	arnold-chiari malformation ³²	occasional (7.5%)	HP:0002308
16	arachnodactyly ³²	frequent (33%)	HP:0001166
17	disproportionate tall stature ³²	occasional (7.5%)	HP:0001519
18	mitral valve prolapse ³²		HP:0001634
19	ascending aortic dissection ³²	frequent (33%)	HP:0004933
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

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 1:

⁴⁶ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.22	COL3A1 FBN1 GPT2 HDAC1 KDM1A MYH11
2	cardiovascular system	MP:0005385	10.19	COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11
3	growth/size/body region	MP:0005378	10.15	CKB COL3A1 FBN1 HDAC1 KDM1A LDHA
4	mortality/aging	MP:0010768	10.07	COL3A1 FBN1 GPT2 HDAC1 KDM1A LDHA
5	embryo	MP:0005380	10.06	FBN1 HDAC1 KDM1A PIGA RCOR1 SMAD3
6	hematopoietic system	MP:0005397	10.02	FBN1 HDAC1 KDM1A LDHA PIGA RCOR1
7	digestive/alimentary	MP:0005381	9.98	COL3A1 MYH11 PIGA SMAD3 TGFB2 TGFBR1
8	craniofacial	MP:0005382	9.93	FBN1 HDAC1 PIGA SMAD3 TGFB2 TGFBR2
9	muscle	MP:0005369	9.7	COL3A1 FBN1 HDAC1 MYH11 TGFB2 TGFBR1
10	neoplasm	MP:0002006	9.43	HDAC1 LDHA PIGA SMAD3 TGFBR1 TGFBR2
11	respiratory system	MP:0005388	9.28	COL3A1 FBN1 HDAC1 KDM1A LDHA MYH11

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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, Bone, Eye

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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 )		2005

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Genes for Loeys-Dietz Syndrome 1

Genes related to Loeys-Dietz Syndrome 1 (2 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1336.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15731757 20301312 21522183 (more) 22237449 23788249 25173340 25356965 27854360 16928994 16596670 19542084 2647812 18070134 16791849
2	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	423.64	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301312 21522183 22237449 (more) 23788249 25173340 25356965 27854360
3	GOT1	Glutamic-Oxaloacetic Transaminase 1	Protein Coding	15.69	DISEASES inferred ¹⁵
4	RCOR1	REST Corepressor 1	Protein Coding	15.6	DISEASES inferred ¹⁵
5	GPT2	Glutamic--Pyruvic Transaminase 2	Protein Coding	15.54	DISEASES inferred ¹⁵
6	KDM1A	Lysine Demethylase 1A	Protein Coding	15.49	DISEASES inferred ¹⁵
7	CKB	Creatine Kinase B	Protein Coding	15.41	DISEASES inferred ¹⁵
8	FBN1	Fibrillin 1	Protein Coding	15.27	DISEASES inferred ¹⁵
9	PIGA	Phosphatidylinositol Glycan Anchor Biosynthesis Class A	Protein Coding	14.84	DISEASES inferred ¹⁵
10	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	14.69	DISEASES inferred ¹⁵
11	MYH11	Myosin Heavy Chain 11	Protein Coding	14.54	DISEASES inferred ¹⁵
12	LDHA	Lactate Dehydrogenase A	Protein Coding	14.34	DISEASES inferred ¹⁵
13	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	14.09	DISEASES inferred ¹⁵
14	HDAC1	Histone Deacetylase 1	Protein Coding	13.97	DISEASES inferred ¹⁵
15	SMAD3	SMAD Family Member 3	Protein Coding	13.8	DISEASES inferred ¹⁵
16	SERPINA1	Serpin Family A Member 1	Protein Coding	13.27	DISEASES inferred ¹⁵
17	ZKSCAN7	Zinc Finger With KRAB And SCAN Domains 7	Protein Coding	6.14	DISEASES inferred ¹⁵
18	GOT2	Glutamic-Oxaloacetic Transaminase 2	Protein Coding	4.17	DISEASES inferred ¹⁵

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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 246)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFBR1	NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg)	single nucleotide variant	Pathogenic	rs121918710	GRCh37	Chromosome 9, 101904965: 101904965
2	TGFBR1	NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg)	single nucleotide variant	Pathogenic	rs121918710	GRCh38	Chromosome 9, 99142683: 99142683
3	TGFBR1	NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly)	single nucleotide variant	Pathogenic	rs121918711	GRCh37	Chromosome 9, 101908835: 101908835
4	TGFBR1	NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly)	single nucleotide variant	Pathogenic	rs121918711	GRCh38	Chromosome 9, 99146553: 99146553
5	TGFBR1	NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile)	single nucleotide variant	Pathogenic	rs121918712	GRCh37	Chromosome 9, 101900165: 101900165
6	TGFBR1	NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile)	single nucleotide variant	Pathogenic	rs121918712	GRCh38	Chromosome 9, 99137883: 99137883
7	TGFBR1	NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro)	single nucleotide variant	Pathogenic	rs113605875	GRCh37	Chromosome 9, 101911535: 101911535
8	TGFBR1	NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro)	single nucleotide variant	Pathogenic	rs113605875	GRCh38	Chromosome 9, 99149253: 99149253
9	TGFBR1	NM_004612.3(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	TGFBR1	NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=)	single nucleotide variant	Benign/Likely benign	rs7861780	GRCh37	Chromosome 9, 101907165: 101907165
18	TGFBR1	NM_004612.3(TGFBR1): c.1125A> C (p.Thr375=)	single nucleotide variant	Benign/Likely benign	rs7861780	GRCh38	Chromosome 9, 99144883: 99144883
19	TGFBR1	NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=)	single nucleotide variant	Benign/Likely benign	rs192662552	GRCh37	Chromosome 9, 101907072: 101907072
20	TGFBR1	NM_004612.3(TGFBR1): c.1032T> C (p.Asn344=)	single nucleotide variant	Benign/Likely benign	rs192662552	GRCh38	Chromosome 9, 99144790: 99144790
21	TGFBR1	NM_004612.3(TGFBR1): c.528G> A (p.Thr176=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs190878719	GRCh37	Chromosome 9, 101894975: 101894975
22	TGFBR1	NM_004612.3(TGFBR1): c.528G> A (p.Thr176=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs190878719	GRCh38	Chromosome 9, 99132693: 99132693
23	TGFBR2	NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr)	single nucleotide variant	Uncertain significance	rs148665451	GRCh37	Chromosome 3, 30713660: 30713660
24	TGFBR2	NM_001024847.2(TGFBR2): c.1060G> A (p.Ala354Thr)	single nucleotide variant	Uncertain significance	rs148665451	GRCh38	Chromosome 3, 30672168: 30672168
25	TGFBR1	NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser)	single nucleotide variant	Uncertain significance	rs141259922	GRCh37	Chromosome 9, 101911508: 101911508
26	TGFBR1	NM_004612.3(TGFBR1): c.1433A> G (p.Asn478Ser)	single nucleotide variant	Uncertain significance	rs141259922	GRCh38	Chromosome 9, 99149226: 99149226
27	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh37	Chromosome 9, 101867557: 101867565
28	TGFBR1	NM_001130916.2(TGFBR1): c.70_78delGCGGCGGCG (p.Ala24_Ala26del)	deletion	Conflicting interpretations of pathogenicity	rs11466445	GRCh38	Chromosome 9, 99105275: 99105283
29	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh38	Chromosome 9, 99132580: 99132580
30	TGFBR1	NM_004612.3(TGFBR1): c.415A> G (p.Ile139Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148176750	GRCh37	Chromosome 9, 101894862: 101894862
31	TGFBR1	NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile)	single nucleotide variant	Likely benign	rs56014374	GRCh38	Chromosome 9, 99132622: 99132622
32	TGFBR1	NM_004612.3(TGFBR1): c.457G> A (p.Val153Ile)	single nucleotide variant	Likely benign	rs56014374	GRCh37	Chromosome 9, 101894904: 101894904
33	TGFBR1	NM_004612.3(TGFBR1): c.575-9dupT	duplication	Benign/Likely benign	rs863223798	GRCh37	Chromosome 9, 101900132: 101900132
34	TGFBR1	NM_004612.3(TGFBR1): c.575-9dupT	duplication	Benign/Likely benign	rs863223798	GRCh38	Chromosome 9, 99137850: 99137850
35	TGFBR1	NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val)	single nucleotide variant	Uncertain significance	rs200018073	GRCh37	Chromosome 9, 101900179: 101900179
36	TGFBR1	NM_004612.3(TGFBR1): c.613A> G (p.Ile205Val)	single nucleotide variant	Uncertain significance	rs200018073	GRCh38	Chromosome 9, 99137897: 99137897
37	TGFBR2	NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039551	GRCh37	Chromosome 3, 30715678: 30715678
38	TGFBR2	NM_003242.5(TGFBR2): c.1336G> A (p.Asp446Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039551	GRCh38	Chromosome 3, 30674186: 30674186
39	TGFBR1	NM_004612.3(TGFBR1): c.-43C> A	single nucleotide variant	Uncertain significance	rs886063219	GRCh37	Chromosome 9, 101867445: 101867445
40	TGFBR1	NM_004612.3(TGFBR1): c.-43C> A	single nucleotide variant	Uncertain significance	rs886063219	GRCh38	Chromosome 9, 99105163: 99105163
41	TGFBR1	NM_004612.3(TGFBR1): c.666A> G (p.Gly222=)	single nucleotide variant	Uncertain significance	rs886063223	GRCh37	Chromosome 9, 101900232: 101900232
42	TGFBR1	NM_004612.3(TGFBR1): c.666A> G (p.Gly222=)	single nucleotide variant	Uncertain significance	rs886063223	GRCh38	Chromosome 9, 99137950: 99137950
43	TGFBR1	NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=)	single nucleotide variant	Uncertain significance	rs886063225	GRCh38	Chromosome 9, 99149236: 99149236
44	TGFBR1	NM_004612.3(TGFBR1): c.1443T> A (p.Ala481=)	single nucleotide variant	Uncertain significance	rs886063225	GRCh37	Chromosome 9, 101911518: 101911518
45	TGFBR1	NM_004612.3(TGFBR1): c.*69A> G	single nucleotide variant	Benign	rs868	GRCh38	Chromosome 9, 99149374: 99149374
46	TGFBR1	NM_004612.3(TGFBR1): c.*69A> G	single nucleotide variant	Benign	rs868	GRCh37	Chromosome 9, 101911656: 101911656
47	TGFBR1	NM_004612.3(TGFBR1): c.*709C> T	single nucleotide variant	Uncertain significance	rs886063228	GRCh37	Chromosome 9, 101912296: 101912296
48	TGFBR1	NM_004612.3(TGFBR1): c.*709C> T	single nucleotide variant	Uncertain significance	rs886063228	GRCh38	Chromosome 9, 99150014: 99150014
49	TGFBR1	NM_004612.3(TGFBR1): c.*1183G> A	single nucleotide variant	Likely benign	rs184564501	GRCh37	Chromosome 9, 101912770: 101912770
50	TGFBR1	NM_004612.3(TGFBR1): c.*1183G> A	single nucleotide variant	Likely benign	rs184564501	GRCh38	Chromosome 9, 99150488: 99150488

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 43)

#	Super pathways	Score	Top Affiliating Genes
1	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	12.81	HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
2	Pathways in cancer ³⁷	12.77	HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
3	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.52	SMAD3 TGFB2 TGFBR1 TGFBR2
4	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	12.47	SMAD3 TGFB2 TGFBR1 TGFBR2
5	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.41	SMAD3 TGFB2 TGFBR1 TGFBR2
6	Human T-cell leukemia virus 1 infection ³⁷	12.37	SMAD3 TGFB2 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	12.24	HDAC1 SMAD3 TGFBR1 TGFBR2
8	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	12.16	SMAD3 TGFB2 TGFBR1 TGFBR2
9	Colorectal Cancer Metastasis ⁶⁴	12.12	SMAD3 TGFB2 TGFBR1 TGFBR2
10	Cellular senescence (KEGG) ³⁷	12.09	SMAD3 TGFB2 TGFBR1 TGFBR2
11	Hippo signaling pathway ³⁷	12.06	SMAD3 TGFB2 TGFBR1 TGFBR2
12	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	12	SMAD3 TGFB2 TGFBR1 TGFBR2
13	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12	SMAD3 TGFB2 TGFBR1 TGFBR2
14	Osteoclast differentiation ³⁷	11.97	TGFB2 TGFBR1 TGFBR2
15	TGF-beta Signaling Pathway (WikiPathways) ¹	11.97	HDAC1 SMAD3 TGFBR1 TGFBR2
16	Sulfur amino acid metabolism ⁶⁶ Show member pathways Cysteine and methionine metabolism ³⁷ Degradation of cysteine and homocysteine ⁶⁶ L-serine degradation ¹ methionine salvage cycle III ¹ Methionine salvage pathway ⁶⁶ S-methyl-5-thioadenosine degradation ¹ spermidine biosynthesis ¹ Sulfide oxidation to sulfate ⁶⁶ sulfite oxidation ¹ taurine biosynthesis ¹ Trans-sulfuration pathway ¹ Valine, leucine and isoleucine biosynthesis ³⁷	11.95	GOT1 GOT2 LDHA
17	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	11.94	SMAD3 TGFB2 TGFBR1 TGFBR2
18	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.82	SMAD3 TGFBR1 TGFBR2
19	Androgen receptor signaling pathway ¹	11.8	HDAC1 KDM1A SMAD3
20	SMAD Signaling Network ⁶⁴	11.8	HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
21	TGF-beta Signaling Pathways ⁶⁵	11.76	SMAD3 TGFB2 TGFBR1 TGFBR2
22	Amino Acid metabolism ¹	11.72	GOT1 GOT2 GPT2 LDHA
23	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	11.71	SMAD3 TGFBR1 TGFBR2
24	Adherens junction ³⁷	11.68	SMAD3 TGFBR1 TGFBR2
25	Development_TGF-beta receptor signaling ²²	11.68	SMAD3 TGFBR1 TGFBR2
26	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	11.66	SMAD3 TGFBR1 TGFBR2
27	TGF-beta signaling pathway (KEGG) ³⁷	11.59	SMAD3 TGFB2 TGFBR1 TGFBR2
28	TGF-beta Receptor Signaling (WikiPathways) ¹	11.57	SMAD3 TGFBR1 TGFBR2
29	Arginine and proline metabolism ³⁷ Show member pathways 4-hydroxyproline degradation ¹ Agmatine biosynthesis ⁶⁶ putrescine biosynthesis II ¹	11.55	CKB GOT1 GOT2
30	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.55	COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
31	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.5	SMAD3 TGFBR1 TGFBR2
32	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.5	SMAD3 TGFB2 TGFBR1 TGFBR2
33	Cell adhesion_Plasmin signaling ²²	11.47	TGFB2 TGFBR1 TGFBR2
34	Microglia Activation During Neuroinflammation: Steady-State Microglia ⁶⁵	11.42	TGFB2 TGFBR1 TGFBR2
35	Transcription_P53 signaling pathway ²²	11.39	HDAC1 SMAD3 TGFB2 TGFBR1 TGFBR2
36	Amino acid synthesis and interconversion (transamination) ⁶⁶ Show member pathways asparagine biosynthesis ¹ Serine biosynthesis ⁶⁶	11.36	GOT1 GOT2 GPT2
37	Alanine, aspartate and glutamate metabolism ³⁷	11.26	GOT1 GOT2 GPT2
38	Arginine biosynthesis ³⁷ Show member pathways citrulline-nitric oxide cycle ¹	11.09	GOT1 GOT2 GPT2
39	NTHi-Induced Signaling ⁶⁴	10.93	SMAD3 TGFBR1 TGFBR2
40	Valproic Acid Pathway, Pharmacodynamics ⁶¹ Show member pathways aspartate biosynthesis ¹ Degradation of GABA ⁶⁶	10.9	GOT1 GOT2 HDAC1
41	Alanine and aspartate metabolism ¹ Show member pathways alanine biosynthesis/degradation ¹	10.79	GOT1 GOT2
42	Extracellular vesicle-mediated signaling in recipient cells ¹	10.73	SMAD3 TGFB2 TGFBR1 TGFBR2
43	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.32	FBN1 SMAD3 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	collagen-containing extracellular matrix	GO:0062023	9.56	COL3A1 FBN1 SERPINA1 TGFB2
2	transcription factor complex	GO:0005667	9.46	HDAC1 KDM1A RCOR1 SMAD3
3	DNA repair complex	GO:1990391	8.96	KDM1A RCOR1
4	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 41)

#	Name	GO ID	Score	Top Affiliating Genes
1	blood coagulation	GO:0007596	9.92	HDAC1 KDM1A RCOR1 SERPINA1
2	response to hypoxia	GO:0001666	9.9	LDHA SMAD3 TGFB2 TGFBR2
3	response to organic cyclic compound	GO:0014070	9.86	KDM1A LDHA TGFBR2
4	kidney development	GO:0001822	9.85	FBN1 TGFB2 TGFBR1
5	heart development	GO:0007507	9.83	COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
6	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.8	SMAD3 TGFBR1 TGFBR2
7	cellular response to transforming growth factor beta stimulus	GO:0071560	9.8	FBN1 SMAD3 TGFBR1
8	cellular amino acid biosynthetic process	GO:0008652	9.77	GOT1 GOT2 GPT2
9	collagen fibril organization	GO:0030199	9.76	COL3A1 TGFB2 TGFBR1
10	skeletal system development	GO:0001501	9.72	COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
11	biosynthetic process	GO:0009058	9.71	GOT1 GOT2 GPT2
12	ventricular septum morphogenesis	GO:0060412	9.7	TGFB2 TGFBR1 TGFBR2
13	glutamate metabolic process	GO:0006536	9.68	GOT1 GOT2
14	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.68	TGFBR1 TGFBR2
15	activin receptor signaling pathway	GO:0032924	9.67	SMAD3 TGFBR1
16	ventricular trabecula myocardium morphogenesis	GO:0003222	9.67	TGFB2 TGFBR1
17	negative regulation of immune response	GO:0050777	9.67	COL3A1 TGFB2
18	embryonic cranial skeleton morphogenesis	GO:0048701	9.67	SMAD3 TGFBR1 TGFBR2
19	secondary palate development	GO:0062009	9.66	TGFB2 TGFBR2
20	cardiac epithelial to mesenchymal transition	GO:0060317	9.66	TGFB2 TGFBR1
21	atrioventricular valve morphogenesis	GO:0003181	9.65	TGFB2 TGFBR2
22	histone H4 deacetylation	GO:0070933	9.65	HDAC1 RCOR1
23	oxaloacetate metabolic process	GO:0006107	9.65	GOT1 GOT2
24	membranous septum morphogenesis	GO:0003149	9.64	TGFB2 TGFBR2
25	negative regulation of cytosolic calcium ion concentration	GO:0051481	9.64	GOT1 SMAD3
26	response to cholesterol	GO:0070723	9.63	TGFBR1 TGFBR2
27	aspartate metabolic process	GO:0006531	9.61	GOT1 GOT2
28	transdifferentiation	GO:0060290	9.61	GOT1 SMAD3
29	aspartate catabolic process	GO:0006533	9.58	GOT1 GOT2
30	2-oxoglutarate metabolic process	GO:0006103	9.58	GOT1 GOT2 GPT2
31	dicarboxylic acid metabolic process	GO:0043648	9.57	GOT1 GOT2
32	endocardial cushion fusion	GO:0003274	9.56	TGFB2 TGFBR2
33	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.56	SMAD3 TGFB2 TGFBR1 TGFBR2
34	regulation of transforming growth factor beta2 production	GO:0032909	9.55	SMAD3 TGFB2
35	transforming growth factor beta receptor signaling pathway	GO:0007179	9.55	COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
36	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.54	TGFB2 TGFBR1 TGFBR2
37	aspartate biosynthetic process	GO:0006532	9.51	GOT1 GOT2
38	glutamate catabolic process to 2-oxoglutarate	GO:0019551	9.48	GOT1 GOT2
39	glutamate catabolic process to aspartate	GO:0019550	9.46	GOT1 GOT2
40	wound healing	GO:0042060	9.35	COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
41	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	8.8	TGFB2 TGFBR1 TGFBR2

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	enzyme binding	GO:0019899	9.84	GOT2 HDAC1 KDM1A SMAD3
2	transcription factor binding	GO:0008134	9.81	HDAC1 KDM1A RCOR1 SMAD3
3	transcription regulatory region DNA binding	GO:0044212	9.73	HDAC1 KDM1A RCOR1 SMAD3
4	transforming growth factor beta binding	GO:0050431	9.52	TGFBR1 TGFBR2
5	pyridoxal phosphate binding	GO:0030170	9.5	GOT1 GOT2 GPT2
6	transforming growth factor beta-activated receptor activity	GO:0005024	9.48	TGFBR1 TGFBR2
7	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.46	TGFBR1 TGFBR2
8	histone deacetylase activity	GO:0004407	9.43	HDAC1 KDM1A RCOR1
9	carboxylic acid binding	GO:0031406	9.4	GOT1 GOT2
10	type II transforming growth factor beta receptor binding	GO:0005114	9.37	TGFB2 TGFBR1
11	L-aspartate:2-oxoglutarate aminotransferase activity	GO:0004069	9.16	GOT1 GOT2
12	transaminase activity	GO:0008483	9.13	GOT1 GOT2 GPT2
13	SMAD binding	GO:0046332	8.92	COL3A1 SMAD3 TGFBR1 TGFBR2
14	protein binding	GO:0005515	10.37	CKB COL3A1 FBN1 HDAC1 KDM1A LDHA

Sources

Sources for Loeys-Dietz Syndrome 1

¹ BioSystems

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Loeys-Dietz Syndrome 1 (LDS1)

Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 1

Related Diseases for Loeys-Dietz Syndrome 1

Diseases in the Loeys-Dietz Syndrome family:

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

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

Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Loeys-Dietz Syndrome 1:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 1:

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

Expression for Loeys-Dietz Syndrome 1

Pathways for Loeys-Dietz Syndrome 1

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

GO Terms for Loeys-Dietz Syndrome 1

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

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

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

Sources for Loeys-Dietz Syndrome 1