Loeys-Dietz Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LDS3 MCID: LYS021 MIFTS: 54	Loeys-Dietz Syndrome 3 (LDS3) 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 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Name: Loeys-Dietz Syndrome 3 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Loeys-Dietz Syndrome with Osteoarthritis ⁵⁷ ¹² ⁵³ ⁷⁵

Aneurysms-Osteoarthritis Syndrome ⁵⁷ ¹² ⁵³ ⁷⁵

Lds3 ⁵⁷ ¹² ⁵³ ⁷⁵

Aneurysm-Osteoarthritis Syndrome ⁵³ ⁵⁹

Loeys-Dietz Syndrome, Type 3 ⁵³ ¹³

Lds1c ¹² ⁷⁵

Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly ⁵⁷

Loeys-Dietz Syndrome, Type 1c, Formerly ⁵⁷

Aneurysm - Osteoarthritis Syndrome ⁵³

Syndrome, Loeys-Dietz, Type 3 ⁴⁰

Loeys-Dietz Syndrome Type 1c ¹²

Loeys-Dietz Syndrome Type 3 ⁵³

Loeys-Dietz Syndrome 1c ⁷⁵

Lds1c, Formerly ⁵⁷

Aos ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

aneurysm-osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

loeys-dietz syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Bone diseases Eye diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare circulatory system diseases

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁷ 613795

Disease Ontology ¹² DOID:0070237

Orphanet ⁵⁹ ORPHA284984

MedGen ⁴² C3151087

MeSH ⁴⁴ D055947

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 24976005 more

UMLS ⁷³ C3151087

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Summaries for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁵ Loeys-Dietz syndrome 3: An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and mental retardation.

MalaCards based summary : Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to osteoporosis and loeys-dietz syndrome. An important gene associated with Loeys-Dietz Syndrome 3 is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and high palate

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the SMAD3 gene on chromosome 15q.

Description from OMIM: 613795

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Related Diseases for Loeys-Dietz Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)

#	Related Disease	Score	Top Affiliating Genes
1	osteoporosis	29.5	LOX SMAD3 TGFB2 TGFBR1
2	loeys-dietz syndrome	28.9	ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
3	aortic aneurysm, familial thoracic 1	28.5	ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
4	aortic aneurysm	28.0	ACTA2 COL3A1 FBN1 LOX MYH11 MYLK
5	adams-oliver syndrome	11.9
6	adams-oliver syndrome 1	11.7
7	atelosteogenesis, type ii	11.4
8	adams-oliver syndrome 5	11.2
9	oliver syndrome	11.2
10	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	11.1
11	aplasia cutis congenita, nonsyndromic	11.0
12	supravalvular aortic stenosis	11.0
13	aortic valve disease 2	11.0
14	adams-oliver syndrome 4	11.0
15	adams-oliver syndrome 6	11.0
16	progressive non-fluent aphasia	11.0
17	osteoarthritis	10.3
18	transient hypogammaglobulinemia	10.2	TGFBR1 TGFBR2
19	cutis laxa, autosomal recessive, type ic	10.2	TGFBR1 TGFBR2
20	ovarian cancer	10.1
21	asthma	10.1
22	multiple self-healing squamous epithelioma	10.1	TGFBR1 TGFBR2
23	subclavian artery aneurysm	10.1	MYH11 TGFBR2
24	scar contracture	10.1	ACTA2 ILK
25	loeys-dietz syndrome 2	10.1	MYH11 TGFBR2
26	craniosynostosis	10.1	SMAD6 TGFBR1 TGFBR2
27	intraductal papilloma	10.1	MYH11 PRKG1
28	eisenmenger syndrome	10.0	TGFBR1 TGFBR2
29	spinal cord injury	10.0
30	atelosteogenesis	10.0
31	compartment syndrome	10.0
32	autosomal recessive cutis laxa type i	10.0	LOX TGFBR1 TGFBR2
33	tricuspid valve prolapse	10.0	FBN1 SMAD3
34	aortic aneurysm, familial thoracic 2	10.0	ACTA2 FBN1
35	loeys-dietz syndrome 4	10.0	SMAD3 TGFB2 TGFBR1 TGFBR2
36	aortic aneurysm, familial thoracic 6	10.0	ACTA2 MYH11 MYLK
37	peyronie's disease	10.0	SMAD3 TGFB2
38	intracranial hypotension	10.0
39	spontaneous intracranial hypotension	10.0
40	stiff skin syndrome	9.9	FBN1 TGFB2
41	dental pulp calcification	9.9	FBN1 TGFBR2
42	fish-eye disease	9.9
43	pick disease of brain	9.9
44	rheumatoid arthritis	9.9
45	leukemia, chronic myeloid	9.9
46	malaria	9.9
47	bone mineral density quantitative trait locus 8	9.9
48	bone mineral density quantitative trait locus 15	9.9
49	angina pectoris	9.9
50	pulmonary hypertension	9.9

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 3:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
osteochondritis dissecans
long bone overgrowth (dolichostenomelia)
knee osteoarthritis
meniscal lesions
more

Skeletal Hands:
arachnodactyly
camptodactyly
hand osteoarthritis

Genitourinary Internal Genitalia Female:
uterine prolapse

Skin Nails Hair Skin:
easy bruisability
atrophic scarring
striae
skin velvety

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal:
osteoporosis (rare)

Skeletal Spine:
scoliosis
dural ectasia
spondylolisthesis
intervertebral disc degeneration
facet joint osteoarthritis
more

Head And Neck Teeth:
dental malocclusion

Cardiovascular Vascular:
aortic dissection
aortic aneurysm
arterial tortuosity
arterial aneurysm
persistent ductus arteriosus (rare)
more

Cardiovascular Heart:
left ventricular hypertrophy
mitral valve prolapse
atrial fibrillation
aortic insufficiency
mitral valve regurgitation
more

Skeletal Pelvis:
protrusio acetabuli
hip osteoarthritis

Head And Neck Mouth:
high-arched palate
cleft palate (rare)
abnormal uvula

Genitourinary Bladder:
bladder prolapse

Abdomen Gastrointestinal:
bowel prolapse

Clinical features from OMIM:

613795

Human phenotypes related to Loeys-Dietz Syndrome 3:

³² (show all 33)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	high palate ³²		HP:0000218
3	scoliosis ³²		HP:0002650
4	inguinal hernia ³²		HP:0000023
5	dental malocclusion ³²		HP:0000689
6	umbilical hernia ³²		HP:0001537
7	pes planus ³²		HP:0001763
8	osteoporosis ³²	occasional (7.5%)	HP:0000939
9	cleft palate ³²	occasional (7.5%)	HP:0000175
10	patent ductus arteriosus ³²	occasional (7.5%)	HP:0001643
11	aortic dissection ³²		HP:0002647
12	joint laxity ³²		HP:0001388
13	mitral regurgitation ³²		HP:0001653
14	left ventricular hypertrophy ³²		HP:0001712
15	striae distensae ³²		HP:0001065
16	arachnodactyly ³²		HP:0001166
17	mitral valve prolapse ³²		HP:0001634
18	protrusio acetabuli ³²		HP:0003179
19	dural ectasia ³²		HP:0100775
20	spondylolisthesis ³²		HP:0003302
21	bruising susceptibility ³²		HP:0000978
22	pulmonic stenosis ³²	occasional (7.5%)	HP:0001642
23	abnormality of the sternum ³²		HP:0000766
24	atrial fibrillation ³²		HP:0005110
25	aortic regurgitation ³²		HP:0001659
26	camptodactyly ³²		HP:0012385
27	aortic aneurysm ³²		HP:0004942
28	intervertebral disc degeneration ³²		HP:0008419
29	uterine prolapse ³²		HP:0000139
30	arterial tortuosity ³²		HP:0005116
31	hip osteoarthritis ³²		HP:0008843
32	osteochondritis dissecans ³²		HP:0010886
33	knee osteoarthritis ³²		HP:0005086

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

²⁶ (show all 38)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	10.51	TGFBR2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-134	10.51	ILK
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-14	10.51	TGFB2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	10.51	TGFB2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10.51	PRKG1 TGFBR2
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	10.51	TGFBR2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-165	10.51	TGFBR1 TGFBR2
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-180	10.51	TGFBR1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-187	10.51	ILK
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-20	10.51	TGFBR2
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	10.51	TGFBR1
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	10.51	ILK
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	10.51	PRKG1
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	10.51	TGFBR1
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	10.51	TGFB2
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10.51	ILK
17	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	10.51	TGFBR2
18	Decreased shRNA abundance (Z-score < -2)	GR00366-A-59	10.51	TGFB2
19	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	10.51	ILK PRKG1 TGFB2 TGFBR1 TGFBR2
20	Decreased shRNA abundance (Z-score < -2)	GR00366-A-65	10.51	TGFBR2
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-71	10.51	TGFB2
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-72	10.51	TGFB2
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	10.51	PRKG1
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-77	10.51	TGFBR1
25	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	10.51	TGFBR2
26	Decreased viability	GR00107-A-1	10.37	TGFBR2
27	Decreased viability	GR00221-A-1	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
28	Decreased viability	GR00221-A-2	10.37	COL3A1 ILK PRKG1
29	Decreased viability	GR00221-A-3	10.37	ILK TGFBR2
30	Decreased viability	GR00221-A-4	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
31	Decreased viability	GR00301-A	10.37	ILK PRKG1
32	Decreased viability	GR00402-S-2	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
33	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-1	9.65	MYH11 MYLK PRKG1
34	Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization	GR00242-A-2	9.65	MYLK PRKG1
35	Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation	GR00242-A-4	9.54	MYH11 MYLK PRKG1
36	Decreased substrate adherent cell growth	GR00193-A-2	9.46	ILK PRKG1 TGFBR1
37	Decreased substrate adherent cell growth	GR00193-A-3	9.46	ILK
38	Transferrin accumulation in the perinuclear area	GR00356-A-3	8.8	MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

⁴⁶ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.34	ACTA2 COL3A1 FBN1 ILK LOX MYH11
2	homeostasis/metabolism	MP:0005376	10.25	APRT COL3A1 FBN1 ILK LOX MYH11
3	growth/size/body region	MP:0005378	10.18	APRT COL3A1 FBN1 ILK MYH11 MYLK
4	cellular	MP:0005384	10.16	COL3A1 FBN1 ILK MYH11 PRKG1 SMAD3
5	digestive/alimentary	MP:0005381	10.15	COL3A1 ILK MYH11 MYLK PRKG1 SMAD3
6	mortality/aging	MP:0010768	10.13	APRT COL3A1 FBN1 ILK LOX MYH11
7	immune system	MP:0005387	10.1	APRT COL3A1 FBN1 ILK MYLK PRKG1
8	hematopoietic system	MP:0005397	10.06	APRT FBN1 ILK PRKG1 SMAD3 TGFB2
9	muscle	MP:0005369	10.03	ACTA2 COL3A1 FBN1 ILK LOX MYH11
10	integument	MP:0010771	9.97	APRT COL3A1 FBN1 ILK LOX MYH11
11	renal/urinary system	MP:0005367	9.76	APRT FBN1 ILK MYH11 MYLK PRKG1
12	respiratory system	MP:0005388	9.56	COL3A1 FBN1 ILK LOX MYH11 TGFB2
13	skeleton	MP:0005390	9.17	FBN1 ILK MYLK SMAD3 TGFB2 TGFBR1

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Drugs & Therapeutics for Loeys-Dietz Syndrome 3

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 3

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Genetic Tests for Loeys-Dietz Syndrome 3

Genetic tests related to Loeys-Dietz Syndrome 3:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 3 ²⁹	SMAD3

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Anatomical Context for Loeys-Dietz Syndrome 3

MalaCards organs/tissues related to Loeys-Dietz Syndrome 3:

⁴¹

Bone, Skin, Eye, Brain, Spinal Cord, Myeloid

Sources

Publications for Loeys-Dietz Syndrome 3

Articles related to Loeys-Dietz Syndrome 3:

#	Title	Authors	Year
1	[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. ( 28737872 )	Rosental C.F....Capelli H.	2017

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Genes for Loeys-Dietz Syndrome 3

Genes related to Loeys-Dietz Syndrome 3 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMAD3	SMAD Family Member 3	Protein Coding	1686.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21217753 20301312 23788249 (more) 25173340 25356965 27854360 21778426 21815248 22167769
2	SMAD6	SMAD Family Member 6	Protein Coding	19.54	GeneCards inferred via : Variants (show sections)
3	ACTA2	Actin, Alpha 2, Smooth Muscle, Aorta	Protein Coding	15.96	DISEASES inferred ¹⁵
4	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	15.89	DISEASES inferred ¹⁵
5	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	15.81	DISEASES inferred ¹⁵
6	APRT	Adenine Phosphoribosyltransferase	Protein Coding	15.04	DISEASES inferred ¹⁵
7	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	14.8	DISEASES inferred ¹⁵
8	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	14.7	DISEASES inferred ¹⁵
9	MYLK	Myosin Light Chain Kinase	Protein Coding	14.64	DISEASES inferred ¹⁵
10	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	14.52	DISEASES inferred ¹⁵
11	MYH11	Myosin Heavy Chain 11	Protein Coding	14.38	DISEASES inferred ¹⁵
12	ILK	Integrin Linked Kinase	Protein Coding	14.24	DISEASES inferred ¹⁵
13	FBN1	Fibrillin 1	Protein Coding	14.02	DISEASES inferred ¹⁵
14	LOX	Lysyl Oxidase	Protein Coding	13.66	DISEASES inferred ¹⁵

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Variations for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 3:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SMAD3	p.Thr261Ile	VAR_065578	rs387906851
2	SMAD3	p.Arg287Trp	VAR_065579	rs387906850
3	SMAD3	p.Glu239Lys	VAR_067047	rs387906853
4	SMAD3	p.Arg279Lys	VAR_067048	rs387906852
5	SMAD3	p.Ala112Val	VAR_067051	rs387906854

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

⁶ (show top 50) (show all 156)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMAD3	NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs387906850	GRCh37	Chromosome 15, 67473779: 67473779
2	SMAD3	NM_005902.3(SMAD3): c.859C> T (p.Arg287Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs387906850	GRCh38	Chromosome 15, 67181441: 67181441
3	SMAD3	NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs)	deletion	Pathogenic	rs587776880	GRCh38	Chromosome 15, 67181323: 67181324
4	SMAD3	NM_005902.3(SMAD3): c.741_742delAT (p.Phe248Profs)	deletion	Pathogenic	rs587776880	GRCh37	Chromosome 15, 67473661: 67473662
5	SMAD3	NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile)	single nucleotide variant	Pathogenic	rs387906851	GRCh37	Chromosome 15, 67473702: 67473702
6	SMAD3	NM_005902.3(SMAD3): c.782C> T (p.Thr261Ile)	single nucleotide variant	Pathogenic	rs387906851	GRCh38	Chromosome 15, 67181364: 67181364
7	SMAD3	NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs)	deletion	Pathogenic	rs587776881	GRCh38	Chromosome 15, 67170599: 67170599
8	SMAD3	NM_005902.3(SMAD3): c.653delA (p.Asn218Thrfs)	deletion	Pathogenic	rs587776881	GRCh37	Chromosome 15, 67462937: 67462937
9	SMAD3	NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys)	single nucleotide variant	Pathogenic	rs387906852	GRCh37	Chromosome 15, 67473756: 67473756
10	SMAD3	NM_005902.3(SMAD3): c.836G> A (p.Arg279Lys)	single nucleotide variant	Pathogenic	rs387906852	GRCh38	Chromosome 15, 67181418: 67181418
11	SMAD3	NM_005902.3(SMAD3): c.715G> A (p.Glu239Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs387906853	GRCh37	Chromosome 15, 67473635: 67473635
12	SMAD3	NM_005902.3(SMAD3): c.715G> A (p.Glu239Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs387906853	GRCh38	Chromosome 15, 67181297: 67181297
13	SMAD3	NM_005902.3(SMAD3): c.335C> T (p.Ala112Val)	single nucleotide variant	Uncertain significance	rs387906854	GRCh37	Chromosome 15, 67457361: 67457361
14	SMAD3	NM_005902.3(SMAD3): c.335C> T (p.Ala112Val)	single nucleotide variant	Uncertain significance	rs387906854	GRCh38	Chromosome 15, 67165023: 67165023
15	SMAD3	NM_005902.3(SMAD3): c.313delG (p.Ala105Profs)	deletion	Pathogenic	rs587776882	GRCh38	Chromosome 15, 67165001: 67165001
16	SMAD3	NM_005902.3(SMAD3): c.313delG (p.Ala105Profs)	deletion	Pathogenic	rs587776882	GRCh37	Chromosome 15, 67457339: 67457339
17	SMAD3	NM_005902.3(SMAD3): c.788C> T (p.Pro263Leu)	single nucleotide variant	Uncertain significance	rs387906855	GRCh37	Chromosome 15, 67473708: 67473708
18	SMAD3	NM_005902.3(SMAD3): c.788C> T (p.Pro263Leu)	single nucleotide variant	Uncertain significance	rs387906855	GRCh38	Chromosome 15, 67181370: 67181370
19	SMAD3	NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs387906856	GRCh37	Chromosome 15, 67479774: 67479774
20	SMAD3	NM_005902.3(SMAD3): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs387906856	GRCh38	Chromosome 15, 67187436: 67187436
21	SMAD3	NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln)	single nucleotide variant	Uncertain significance	rs375574124	GRCh37	Chromosome 15, 67457645: 67457645
22	SMAD3	NM_005902.3(SMAD3): c.455C> A (p.Pro152Gln)	single nucleotide variant	Uncertain significance	rs375574124	GRCh38	Chromosome 15, 67165307: 67165307
23	SMAD6	NM_005585.4(SMAD6): c.120C> A (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh38	Chromosome 15, 66703378: 66703378
24	SMAD6	NM_005585.4(SMAD6): c.120C> A (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh37	Chromosome 15, 66995716: 66995716
25	SMAD6	NM_005585.4(SMAD6): c.120C> T (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh38	Chromosome 15, 66703378: 66703378
26	SMAD6	NM_005585.4(SMAD6): c.120C> T (p.Gly40=)	single nucleotide variant	Benign	rs149612008	GRCh37	Chromosome 15, 66995716: 66995716
27	SMAD6	NM_005585.4(SMAD6): c.264C> G (p.Gly88=)	single nucleotide variant	Likely benign	rs547033777	GRCh38	Chromosome 15, 66703522: 66703522
28	SMAD6	NM_005585.4(SMAD6): c.264C> G (p.Gly88=)	single nucleotide variant	Likely benign	rs547033777	GRCh37	Chromosome 15, 66995860: 66995860
29	SMAD6	NM_005585.4(SMAD6): c.447C> T (p.Ala149=)	single nucleotide variant	Benign	rs181184476	GRCh37	Chromosome 15, 66996043: 66996043
30	SMAD6	NM_005585.4(SMAD6): c.447C> T (p.Ala149=)	single nucleotide variant	Benign	rs181184476	GRCh38	Chromosome 15, 66703705: 66703705
31	SMAD6	NM_005585.4(SMAD6): c.817+9G> C	single nucleotide variant	Benign	rs200726236	GRCh38	Chromosome 15, 66704084: 66704084
32	SMAD6	NM_005585.4(SMAD6): c.817+9G> C	single nucleotide variant	Benign	rs200726236	GRCh37	Chromosome 15, 66996422: 66996422
33	SMAD6	NM_005585.4(SMAD6): c.909G> A (p.Thr303=)	single nucleotide variant	Benign	rs139719094	GRCh37	Chromosome 15, 67008793: 67008793
34	SMAD6	NM_005585.4(SMAD6): c.909G> A (p.Thr303=)	single nucleotide variant	Benign	rs139719094	GRCh38	Chromosome 15, 66716455: 66716455
35	SMAD3	NM_005902.3(SMAD3): c.228G> T (p.Gln76His)	single nucleotide variant	Uncertain significance	rs886041046	GRCh37	Chromosome 15, 67457254: 67457254
36	SMAD3	NM_005902.3(SMAD3): c.228G> T (p.Gln76His)	single nucleotide variant	Uncertain significance	rs886041046	GRCh38	Chromosome 15, 67164916: 67164916
37	SMAD6	NM_005585.4(SMAD6): c.194C> G (p.Pro65Arg)	single nucleotide variant	Uncertain significance	rs990598927	GRCh38	Chromosome 15, 66703452: 66703452
38	SMAD6	NM_005585.4(SMAD6): c.194C> G (p.Pro65Arg)	single nucleotide variant	Uncertain significance	rs990598927	GRCh37	Chromosome 15, 66995790: 66995790
39	SMAD6	NM_005585.4(SMAD6): c.711C> T (p.His237=)	single nucleotide variant	Benign	rs144415105	GRCh38	Chromosome 15, 66703969: 66703969
40	SMAD6	NM_005585.4(SMAD6): c.711C> T (p.His237=)	single nucleotide variant	Benign	rs144415105	GRCh37	Chromosome 15, 66996307: 66996307
41	SMAD6	NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly)	single nucleotide variant	Likely benign	rs200004068	GRCh38	Chromosome 15, 66711691: 66711691
42	SMAD6	NM_005585.4(SMAD6): c.841C> G (p.Arg281Gly)	single nucleotide variant	Likely benign	rs200004068	GRCh37	Chromosome 15, 67004029: 67004029
43	SMAD6	NM_005585.4(SMAD6): c.1167C> T (p.Phe389=)	single nucleotide variant	Benign	rs12591946	GRCh38	Chromosome 15, 66781211: 66781211
44	SMAD6	NM_005585.4(SMAD6): c.1167C> T (p.Phe389=)	single nucleotide variant	Benign	rs12591946	GRCh37	Chromosome 15, 67073549: 67073549
45	SMAD6	NM_005585.4(SMAD6): c.75C> T (p.Gly25=)	single nucleotide variant	Uncertain significance	rs755856670	GRCh37	Chromosome 15, 66995671: 66995671
46	SMAD6	NM_005585.4(SMAD6): c.75C> T (p.Gly25=)	single nucleotide variant	Uncertain significance	rs755856670	GRCh38	Chromosome 15, 66703333: 66703333
47	SMAD6	NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu)	single nucleotide variant	Uncertain significance	rs566777509	GRCh38	Chromosome 15, 66703548: 66703548
48	SMAD6	NM_005585.4(SMAD6): c.290G> A (p.Gly97Glu)	single nucleotide variant	Uncertain significance	rs566777509	GRCh37	Chromosome 15, 66995886: 66995886
49	SMAD6	NM_005585.4(SMAD6): c.956C> T (p.Ala319Val)	single nucleotide variant	Likely benign	rs148705603	GRCh38	Chromosome 15, 66781000: 66781000
50	SMAD6	NM_005585.4(SMAD6): c.956C> T (p.Ala319Val)	single nucleotide variant	Likely benign	rs148705603	GRCh37	Chromosome 15, 67073338: 67073338

Sources

Expression for Loeys-Dietz Syndrome 3

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 3.

Sources

Pathways for Loeys-Dietz Syndrome 3

Pathways related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 56)

#	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	13.72	ACTA2 COL3A1 FBN1 ILK MYH11 MYLK
2	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	13.23	ACTA2 COL3A1 FBN1 MYH11 MYLK TGFB2
3	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.2	ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFBR1
4	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.98	ACTA2 COL3A1 FBN1 TGFB2 TGFBR1
5	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	12.96	ACTA2 COL3A1 PRKG1 SMAD3 TGFBR1 TGFBR2
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	12.93	SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
7	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.8	ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
8	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	12.8	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
9	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.7	ACTA2 ILK MYH11 PRKG1 TGFB2 TGFBR1
10	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.68	SMAD3 TGFB2 TGFBR1 TGFBR2
11	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.67	COL3A1 FBN1 LOX TGFB2
12	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.65	ACTA2 MYH11 MYLK PRKG1
13	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.56	ACTA2 ILK MYH11 MYLK
14	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
15	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	12.44	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
16	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.42	SMAD3 TGFB2 TGFBR1 TGFBR2
17	Human T-cell leukemia virus 1 infection ³⁷	12.38	SMAD3 TGFB2 TGFBR1 TGFBR2
18	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	12.18	SMAD3 TGFB2 TGFBR1 TGFBR2
19	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	12.17	ACTA2 COL3A1 FBN1 MYH11 MYLK
20	Wnt / Hedgehog / Notch ⁴	12.16	SMAD3 TGFB2 TGFBR1
21	Colorectal Cancer Metastasis ⁶⁴	12.14	SMAD3 TGFB2 TGFBR1 TGFBR2
22	Cellular senescence (KEGG) ³⁷	12.12	SMAD3 TGFB2 TGFBR1 TGFBR2
23	MicroRNAs in cardiomyocyte hypertrophy ¹ Show member pathways Cardiac Hypertrophic Response ¹	12.09	MYLK PRKG1 TGFBR1
24	Hippo signaling pathway ³⁷	12.09	SMAD3 TGFB2 TGFBR1 TGFBR2
25	Integrated Breast Cancer Pathway ¹	12.07	SMAD6 TGFBR1 TGFBR2
26	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.04	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	12.02	SMAD3 TGFB2 TGFBR1 TGFBR2
28	Apelin signaling pathway ³⁷	12.01	ACTA2 MYLK SMAD3 TGFBR1
29	TGF-beta Signaling Pathway (WikiPathways) ¹	12	SMAD3 TGFBR1 TGFBR2
30	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	12	SMAD3 TGFB2 TGFBR1 TGFBR2
31	Osteoclast differentiation ³⁷	11.98	TGFB2 TGFBR1 TGFBR2
32	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	11.98	SMAD3 TGFB2 TGFBR1 TGFBR2
33	Platelet activation ³⁷	11.96	COL3A1 MYLK PRKG1
34	SMAD Signaling Network ⁶⁴	11.91	ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
35	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
36	TGF-beta Signaling Pathways ⁶⁵	11.79	SMAD3 TGFB2 TGFBR1 TGFBR2
37	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.7	FBN1 LOX TGFB2
38	Adherens junction ³⁷	11.69	SMAD3 TGFBR1 TGFBR2
39	Development_TGF-beta receptor signaling ²²	11.68	SMAD3 TGFBR1 TGFBR2
40	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	11.67	SMAD3 TGFBR1 TGFBR2
41	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	11.66	LOX SMAD3 TGFBR1 TGFBR2
42	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.55	COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
43	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.53	SMAD3 TGFBR1 TGFBR2
44	Transcription_P53 signaling pathway ²²	11.53	ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
45	TGF-beta Receptor Signaling (WikiPathways) ¹	11.52	SMAD3 SMAD6 TGFBR1 TGFBR2
46	Cell adhesion_Plasmin signaling ²²	11.5	TGFB2 TGFBR1 TGFBR2
47	Microglia Activation During Neuroinflammation: Steady-State Microglia ⁶⁵	11.46	TGFB2 TGFBR1 TGFBR2
48	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.41	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
49	Smooth Muscle Contraction ⁶⁶	11.33	ACTA2 MYH11 MYLK
50	G-protein signaling_Cross-talk between Ras-family GTPases ²²	11.3	ACTA2 MYLK TGFB2 TGFBR1 TGFBR2

Sources

GO Terms for Loeys-Dietz Syndrome 3

Cellular components related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lamellipodium	GO:0030027	9.13	ACTA2 ILK MYLK
2	transforming growth factor beta receptor complex	GO:0070022	8.62	TGFBR1 TGFBR2

Biological processes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show all 41)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein phosphorylation	GO:0006468	9.99	ILK MYLK PRKG1 TGFB2 TGFBR1 TGFBR2
2	negative regulation of cell proliferation	GO:0008285	9.98	SMAD3 SMAD6 TGFB2 TGFBR2
3	positive regulation of cell migration	GO:0030335	9.89	ILK MYLK SMAD3 TGFBR1
4	response to hypoxia	GO:0001666	9.86	SMAD3 TGFB2 TGFBR2
5	peptidyl-serine phosphorylation	GO:0018105	9.85	ILK TGFBR1 TGFBR2
6	kidney development	GO:0001822	9.83	FBN1 TGFB2 TGFBR1
7	muscle contraction	GO:0006936	9.83	ACTA2 MYH11 MYLK
8	cell cycle arrest	GO:0007050	9.83	ILK SMAD3 TGFB2 TGFBR1
9	skeletal system development	GO:0001501	9.8	COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
10	cellular response to transforming growth factor beta stimulus	GO:0071560	9.76	FBN1 SMAD3 TGFBR1
11	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.76	SMAD3 SMAD6 TGFBR1 TGFBR2
12	ventricular septum morphogenesis	GO:0060412	9.72	TGFB2 TGFBR1 TGFBR2
13	embryonic cranial skeleton morphogenesis	GO:0048701	9.71	SMAD3 TGFBR1 TGFBR2
14	cell-cell junction organization	GO:0045216	9.68	SMAD3 TGFB2
15	aorta development	GO:0035904	9.67	LOX SMAD6
16	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.67	TGFBR1 TGFBR2
17	smooth muscle contraction	GO:0006939	9.67	MYH11 MYLK
18	outflow tract septum morphogenesis	GO:0003148	9.67	SMAD6 TGFB2 TGFBR2
19	collagen fibril organization	GO:0030199	9.67	COL3A1 LOX TGFB2 TGFBR1
20	activin receptor signaling pathway	GO:0032924	9.66	SMAD3 TGFBR1
21	ventricular trabecula myocardium morphogenesis	GO:0003222	9.66	TGFB2 TGFBR1
22	negative regulation of immune response	GO:0050777	9.65	COL3A1 TGFB2
23	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.65	SMAD3 SMAD6 TGFB2
24	pulmonary valve morphogenesis	GO:0003184	9.64	SMAD6 TGFB2
25	secondary palate development	GO:0062009	9.64	TGFB2 TGFBR2
26	cardiac epithelial to mesenchymal transition	GO:0060317	9.63	TGFB2 TGFBR1
27	heart development	GO:0007507	9.63	COL3A1 FBN1 LOX TGFB2 TGFBR1 TGFBR2
28	supramolecular fiber organization	GO:0097435	9.62	COL3A1 ILK
29	atrioventricular valve morphogenesis	GO:0003181	9.62	TGFB2 TGFBR2
30	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.62	SMAD3 TGFB2 TGFBR1 TGFBR2
31	membranous septum morphogenesis	GO:0003149	9.61	TGFB2 TGFBR2
32	response to cholesterol	GO:0070723	9.61	TGFBR1 TGFBR2
33	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.61	TGFB2 TGFBR1 TGFBR2
34	elastic fiber assembly	GO:0048251	9.6	LOX MYH11
35	aorta smooth muscle tissue morphogenesis	GO:0060414	9.58	COL3A1 MYLK
36	endocardial cushion fusion	GO:0003274	9.57	TGFB2 TGFBR2
37	regulation of transforming growth factor beta2 production	GO:0032909	9.56	SMAD3 TGFB2
38	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	9.43	TGFB2 TGFBR1 TGFBR2
39	transforming growth factor beta receptor signaling pathway	GO:0007179	9.43	COL3A1 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
40	wound healing	GO:0042060	9.1	COL3A1 LOX SMAD3 TGFB2 TGFBR1 TGFBR2
41	phosphorylation	GO:0016310	10.03	ILK MYLK PRKG1 TGFBR1 TGFBR2

Molecular functions related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.88	ILK MYLK PRKG1 TGFBR1 TGFBR2
2	protein kinase activity	GO:0004672	9.72	ILK MYLK PRKG1 TGFBR1 TGFBR2
3	ATP binding	GO:0005524	9.7	ACTA2 ILK MYH11 MYLK PRKG1 TGFBR1
4	integrin binding	GO:0005178	9.69	COL3A1 FBN1 ILK
5	R-SMAD binding	GO:0070412	9.54	SMAD3 SMAD6
6	transforming growth factor beta binding	GO:0050431	9.52	TGFBR1 TGFBR2
7	transforming growth factor beta-activated receptor activity	GO:0005024	9.49	TGFBR1 TGFBR2
8	co-SMAD binding	GO:0070410	9.46	SMAD3 SMAD6
9	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.43	TGFBR1 TGFBR2
10	type I transforming growth factor beta receptor binding	GO:0034713	9.4	SMAD6 TGFBR2
11	I-SMAD binding	GO:0070411	9.37	SMAD6 TGFBR1
12	protein serine/threonine kinase activity	GO:0004674	9.35	ILK MYLK PRKG1 TGFBR1 TGFBR2
13	type II transforming growth factor beta receptor binding	GO:0005114	9.26	TGFB2 TGFBR1
14	SMAD binding	GO:0046332	8.92	COL3A1 SMAD3 TGFBR1 TGFBR2

Sources

Sources for Loeys-Dietz Syndrome 3

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 3 (LDS3)

Aliases & Classifications for Loeys-Dietz Syndrome 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 3

Related Diseases for Loeys-Dietz Syndrome 3

Diseases in the Loeys-Dietz Syndrome family:

Diseases related to Loeys-Dietz Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 3:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 3

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Loeys-Dietz Syndrome 3:

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

Drugs & Therapeutics for Loeys-Dietz Syndrome 3

Genetic Tests for Loeys-Dietz Syndrome 3

Genetic tests related to Loeys-Dietz Syndrome 3:

Anatomical Context for Loeys-Dietz Syndrome 3

MalaCards organs/tissues related to Loeys-Dietz Syndrome 3:

Publications for Loeys-Dietz Syndrome 3

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Variations for Loeys-Dietz Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 3:

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

Expression for Loeys-Dietz Syndrome 3

Pathways for Loeys-Dietz Syndrome 3

Pathways related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

GO Terms for Loeys-Dietz Syndrome 3

Cellular components related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

Biological processes related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

Molecular functions related to Loeys-Dietz Syndrome 3 according to GeneCards Suite gene sharing:

Sources for Loeys-Dietz Syndrome 3