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

LDS3 MCID: LYS021 MIFTS: 57	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 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ¹⁵ ⁷⁴

Loeys-Dietz Syndrome with Osteoarthritis ⁵⁸ ¹² ⁵⁴ ⁷⁶

Aneurysms-Osteoarthritis Syndrome ⁵⁸ ¹² ⁵⁴ ⁷⁶

Lds3 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Aneurysm-Osteoarthritis Syndrome ⁵⁴ ⁶⁰

Loeys-Dietz Syndrome, Type 3 ⁵⁴ ¹³

Lds1c ¹² ⁷⁶

Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly ⁵⁸

Loeys-Dietz Syndrome, Type 1c, Formerly ⁵⁸

Aneurysm - Osteoarthritis Syndrome ⁵⁴

Syndrome, Loeys-Dietz, Type 3 ⁴¹

Loeys-Dietz Syndrome Type 1c ¹²

Loeys-Dietz Syndrome Type 3 ⁵⁴

Loeys-Dietz Syndrome 1c ⁷⁶

Lds1c, Formerly ⁵⁸

Aos ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

loeys-dietz syndrome 3:
Clinical modifier sudden death
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: ⁶⁰

Rare circulatory system diseases

Rare systemic and rhumatological diseases

External Ids:

Disease Ontology ¹² DOID:0070237

OMIM ⁵⁸ 613795

MeSH ⁴⁵ D055947

Orphanet ⁶⁰ ORPHA284984

MedGen ⁴³ C3151087

SNOMED-CT via HPO ⁷⁰ 111266001 12026006 128060009 more

UMLS ⁷⁴ C3151087

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Summaries for Loeys-Dietz Syndrome 3

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 284984Disease definitionA rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Loeys-Dietz Syndrome 3, also known as loeys-dietz syndrome with osteoarthritis, is related to aortic aneurysm, familial thoracic 1 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 heart, skin and bone, and related phenotypes are pes planus and dilatation of the sinus of valsalva

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

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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 92)

#	Related Disease	Score	Top Affiliating Genes
1	aortic aneurysm, familial thoracic 1	28.6	ACTA2 COL3A1 FBN1 MYH11 SMAD3 TGFBR1
2	loeys-dietz syndrome	28.3	ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
3	aortic aneurysm	27.1	ACTA2 COL3A1 FBN1 LOX MYH11 MYLK
4	adams-oliver syndrome	11.9
5	adams-oliver syndrome 1	11.8
6	atelosteogenesis, type ii	11.4
7	adams-oliver syndrome 5	11.2
8	oliver syndrome	11.2
9	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	11.1
10	aplasia cutis congenita, nonsyndromic	11.0
11	supravalvular aortic stenosis	11.0
12	aortic valve disease 2	11.0
13	adams-oliver syndrome 4	11.0
14	adams-oliver syndrome 6	11.0
15	progressive non-fluent aphasia	11.0
16	osteoarthritis	10.3
17	transient hypogammaglobulinemia	10.3	TGFBR1 TGFBR2
18	cutis laxa, autosomal recessive, type ic	10.3	TGFBR1 TGFBR2
19	scar contracture	10.1	ACTA2 ILK
20	subclavian artery aneurysm	10.1	MYH11 TGFBR2
21	tricuspid valve prolapse	10.1	FBN1 SMAD3
22	ovarian cancer	10.1
23	loeys-dietz syndrome 2	10.1	MYH11 TGFBR2
24	intraductal papilloma	10.1	MYH11 PRKG1
25	craniosynostosis	10.1	SMAD6 TGFBR1 TGFBR2
26	aortic aneurysm, familial thoracic 2	10.0	ACTA2 FBN1
27	loeys-dietz syndrome 4	10.0	SMAD3 TGFB2 TGFBR1 TGFBR2
28	stiff skin syndrome	10.0	FBN1 TGFB2
29	spinal cord injury	10.0
30	atelosteogenesis	10.0
31	compartment syndrome	10.0
32	pathologic nystagmus	10.0
33	allergic encephalomyelitis	10.0
34	dental pulp calcification	10.0	FBN1 TGFBR2
35	hypermobile ehlers-danlos syndrome	10.0	FBN1 ILK
36	multiple self-healing squamous epithelioma	10.0	TGFBR1 TGFBR2
37	intracranial hypotension	10.0
38	spontaneous intracranial hypotension	10.0
39	aortic aneurysm, familial thoracic 6	9.9	ACTA2 MYH11 MYLK
40	blood group, langereis system	9.9
41	radin blood group antigen	9.9
42	exudative vitreoretinopathy 1	9.9
43	hypertension, essential	9.9
44	meniere disease	9.9
45	osteoporosis	9.9
46	pick disease of brain	9.9
47	rheumatoid arthritis	9.9
48	schizophrenia	9.9
49	spondylolisthesis	9.9
50	asthma	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

Human phenotypes related to Loeys-Dietz Syndrome 3:

⁶⁰ ³³ (show top 50) (show all 70)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	pes planus ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0001763
2	dilatation of the sinus of valsalva ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011645
3	malar flattening ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000272
4	hypertelorism ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000316
5	high palate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000218
6	scoliosis ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0002650
7	inguinal hernia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000023
8	dental malocclusion ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000689
9	umbilical hernia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001537
10	atypical scarring of skin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000987
11	aortic dissection ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002647
12	arterial dissection ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005294
13	migraine ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002076
14	mitral regurgitation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001653
15	striae distensae ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0001065
16	arachnodactyly ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0001166
17	chronic fatigue ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0012432
18	protrusio acetabuli ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0003179
19	long face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000276
20	bruising susceptibility ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000978
21	high forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000348
22	bifid uvula ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000193
23	aortic regurgitation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001659
24	dilatation of the cerebral artery ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004944
25	uterine prolapse ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000139
26	arterial tortuosity ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0005116
27	osteoarthritis of the small joints of the hand ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004268
28	knee osteoarthritis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005086
29	abnormality of bladder morphology ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0025487
30	pectus excavatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000767
31	pectus carinatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000768
32	osteoporosis ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0000939
33	cleft palate ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0000175
34	retrognathia ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0000278
35	patent ductus arteriosus ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0001643
36	joint laxity ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0001388
37	left ventricular hypertrophy ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0001712
38	disproportionate tall stature ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001519
39	dural ectasia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100775
40	spondylolisthesis ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0003302
41	pulmonic stenosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001642
42	camptodactyly of finger ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100490
43	atrial fibrillation ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0005110
44	intervertebral disc degeneration ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0008419
45	osteochondritis dissecans ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010886
46	abdominal aortic aneurysm ³³	very rare (1%)		HP:0005112
47	craniosynostosis ⁶⁰ ³³	very rare (1%)	Excluded (0%)	HP:0001363
48	cataract ³³	very rare (1%)		HP:0000518
49	dolichocephaly ³³	very rare (1%)		HP:0000268
50	talipes equinovarus ³³	very rare (1%)		HP:0001762

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
knee osteoarthritis
osteochondritis dissecans
long bone overgrowth (dolichostenomelia)
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:
mitral valve prolapse
left ventricular hypertrophy
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

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

²⁷ (show all 35)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	10.43	TGFBR2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-134	10.43	ILK
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-14	10.43	TGFB2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	10.43	TGFB2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10.43	PRKG1 TGFBR2
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	10.43	TGFBR2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-165	10.43	TGFBR1 TGFBR2
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-180	10.43	TGFBR1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-187	10.43	ILK
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-20	10.43	TGFBR2
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	10.43	TGFBR1
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	10.43	ILK
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	10.43	PRKG1
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	10.43	TGFBR1
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	10.43	TGFB2
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10.43	ILK
17	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	10.43	TGFBR2
18	Decreased shRNA abundance (Z-score < -2)	GR00366-A-59	10.43	TGFB2
19	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	10.43	ILK PRKG1 TGFB2 TGFBR1 TGFBR2
20	Decreased shRNA abundance (Z-score < -2)	GR00366-A-71	10.43	TGFB2
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-72	10.43	TGFB2
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	10.43	PRKG1
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-77	10.43	TGFBR1
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	10.43	TGFBR2
25	Decreased viability	GR00107-A-1	10.37	TGFBR2
26	Decreased viability	GR00221-A-1	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
27	Decreased viability	GR00221-A-2	10.37	COL3A1 ILK PRKG1
28	Decreased viability	GR00221-A-3	10.37	ILK TGFBR2
29	Decreased viability	GR00221-A-4	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
30	Decreased viability	GR00301-A	10.37	ILK PRKG1
31	Decreased viability	GR00402-S-2	10.37	COL3A1 ILK MYLK PRKG1 TGFBR1 TGFBR2
32	Decreased cell migration	GR00055-A-1	9.62	ILK LIMS1 MYLK PRKG1
33	Decreased substrate adherent cell growth	GR00193-A-2	9.46	ILK PRKG1 TGFBR1
34	Decreased substrate adherent cell growth	GR00193-A-3	9.46	ILK
35	Transferrin accumulation in the perinuclear area	GR00356-A-3	8.8	MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

⁴⁷ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.36	ACTA2 COL3A1 FBN1 ILK LIMS1 LOX
2	homeostasis/metabolism	MP:0005376	10.25	APRT COL3A1 FBN1 ILK LIMS1 LOX
3	cellular	MP:0005384	10.19	COL3A1 FBN1 ILK LIMS1 MYH11 PRKG1
4	growth/size/body region	MP:0005378	10.17	APRT COL3A1 FBN1 ILK LIMS1 MYH11
5	digestive/alimentary	MP:0005381	10.13	COL3A1 ILK MYH11 MYLK PRKG1 SMAD3
6	mortality/aging	MP:0010768	10.1	APRT COL3A1 FBN1 ILK LIMS1 LOX
7	immune system	MP:0005387	10.07	APRT COL3A1 FBN1 ILK MYLK PRKG1
8	embryo	MP:0005380	10	FBN1 ILK LIMS1 SMAD3 TGFB2 TGFBR1
9	muscle	MP:0005369	9.97	ACTA2 COL3A1 FBN1 ILK LIMS1 LOX
10	integument	MP:0010771	9.92	APRT COL3A1 FBN1 ILK LOX MYH11
11	renal/urinary system	MP:0005367	9.56	APRT FBN1 ILK MYH11 MYLK PRKG1
12	respiratory system	MP:0005388	9.28	COL3A1 FBN1 ILK LIMS1 LOX MYH11

Sources

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 ³⁰	SMAD3

Sources

Anatomical Context for Loeys-Dietz Syndrome 3

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

⁴²

Heart, Skin, Bone, Brain, Eye, 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 CF...Capelli H	2017
2	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )	Kalia SS...Miller DT	2017
3	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )	ACMG Board of Directors	2015
4	2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). ( 25173340 )	Erbel R...ESC Committee for Practice Guidelines	2014
5	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )	Green RC...American College of Medical Genetics and Genomics	2013
6	Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. ( 22167769 )	van de Laar IM...Wessels MW	2012
7	Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. ( 21778426 )	Regalado ES...Milewicz DM	2011
8	Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. ( 21217753 )	van de Laar IM...Bertoli-Avella AM	2011
9	Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. ( 21815248 )	Regalado E...Milewicz DM	2011

Sources

Genes for Loeys-Dietz Syndrome 3

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMAD3	SMAD Family Member 3	Protein Coding	1686.43	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ 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	19.58	GeneCards inferred via : Variants (show sections)
3	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	15.86	DISEASES inferred ¹⁵
4	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	15.78	DISEASES inferred ¹⁵
5	APRT	Adenine Phosphoribosyltransferase	Protein Coding	15.11	DISEASES inferred ¹⁵
6	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	14.75	DISEASES inferred ¹⁵
7	MYLK	Myosin Light Chain Kinase	Protein Coding	14.72	DISEASES inferred ¹⁵
8	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	14.68	DISEASES inferred ¹⁵
9	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	14.56	DISEASES inferred ¹⁵
10	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	14.51	DISEASES inferred ¹⁵
11	ILK	Integrin Linked Kinase	Protein Coding	14.28	DISEASES inferred ¹⁵
12	MYH11	Myosin Heavy Chain 11	Protein Coding	14.27	DISEASES inferred ¹⁵
13	FBN1	Fibrillin 1	Protein Coding	14.07	DISEASES inferred ¹⁵
14	LOX	Lysyl Oxidase	Protein Coding	13.68	DISEASES inferred ¹⁵
15	LIMS1	LIM Zinc Finger Domain Containing 1	Protein Coding	5.24	DISEASES inferred ¹⁵

Sources

Variations for Loeys-Dietz Syndrome 3

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

⁷⁶

#	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 158)

#	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 53)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁵ Show member pathways ILK Signaling ⁶⁵ MAPK Signaling ⁶⁵ Molecular Mechanisms of Cancer ⁶⁵ Rho Family GTPases ⁶⁵	13.69	ACTA2 COL3A1 FBN1 ILK LIMS1 MYH11
2	Integrin Pathway ⁶⁵ Show member pathways FAK1 Signaling ⁶⁵ GnRH Signaling ⁶⁵ Inhibition of Angiogenesis by TSP1 ⁶⁵ Transendothelial Migration of Leukocytes ⁶⁵ UPA-UPAR Pathway ⁶⁵	13.28	ACTA2 COL3A1 FBN1 MYH11 MYLK TGFB2
3	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	13.21	ACTA2 MYH11 MYLK SMAD3 TGFB2 TGFBR1
4	Toll-like Receptor Signaling Pathway ¹ ³⁸ Show member pathways Chagas disease (American trypanosomiasis) ³⁸ Hepatitis B ³⁸ Hepatitis C ³⁸ NOD-like Receptor Signaling Pathways ⁶⁶ Regulation of toll-like receptor signaling pathway ¹	13.02	SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
5	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.99	ACTA2 COL3A1 FBN1 TGFB2 TGFBR1
6	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	12.97	ACTA2 COL3A1 PRKG1 SMAD3 TGFBR1 TGFBR2
7	NFAT and Cardiac Hypertrophy ⁶⁵ Show member pathways IGF1R Signaling ⁶⁵ Signaling Involved in Cardiac Hypertrophy ⁶⁵	12.81	ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
8	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.81	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
9	Sertoli-Sertoli Cell Junction Dynamics ⁶⁵ Show member pathways Epithelial Tight Junctions ⁶⁵ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁵	12.7	ACTA2 ILK MYH11 PRKG1 TGFB2 TGFBR1
10	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.67	COL3A1 FBN1 LOX TGFB2
11	Vascular smooth muscle contraction ³⁸ Show member pathways cGMP-PKG signaling pathway ³⁸ Oxytocin signaling pathway ³⁸	12.66	ACTA2 MYH11 MYLK PRKG1
12	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²³ Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²³ Cell adhesion Tight junctions ²³ Cytoskeleton remodeling Integrin outside-in signaling ²³ Development MAG-dependent inhibition of neurite outgrowth ²³	12.58	ACTA2 ILK LIMS1 MYH11 MYLK
13	Th17 cell differentiation ³⁸ Show member pathways IL-22 Pathway ⁶⁵ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease (IBD) ³⁸ Th1 and Th2 cell differentiation ³⁸	12.52	SMAD3 TGFB2 TGFBR1 TGFBR2
14	Development EGFR signaling pathway ²³ Show member pathways Development ERBB-family signaling ²³ EGF Pathway ⁶⁵ EGFR Signaling Pathway ⁶⁸ ErbB receptor signaling network ¹	12.44	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
15	Human Embryonic Stem Cell Pluripotency ⁶⁵ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁵	12.42	SMAD3 TGFB2 TGFBR1 TGFBR2
16	Human T-cell leukemia virus 1 infection ³⁸	12.31	SMAD3 TGFB2 TGFBR1 TGFBR2
17	Cell cycle Role of SCF complex in cell cycle regulation ²³ Show member pathways Cell cycle ESR1 regulation of G1/S transition ²³ Cell cycle Regulation of G1/S transition (part 1) ²³ Immune response MIF-JAB1 signaling ²³	12.18	SMAD3 TGFB2 TGFBR1 TGFBR2
18	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	12.17	ACTA2 COL3A1 FBN1 MYH11 MYLK
19	Colorectal Cancer Metastasis ⁶⁵	12.13	SMAD3 TGFB2 TGFBR1 TGFBR2
20	Cellular senescence (KEGG) ³⁸	12.11	SMAD3 TGFB2 TGFBR1 TGFBR2
21	MicroRNAs in cardiomyocyte hypertrophy ¹ Show member pathways Cardiac Hypertrophic Response ¹	12.08	MYLK PRKG1 TGFBR1
22	Hippo signaling pathway ³⁸	12.08	SMAD3 TGFB2 TGFBR1 TGFBR2
23	Integrated Breast Cancer Pathway ¹	12.07	SMAD6 TGFBR1 TGFBR2
24	Transcription Androgen Receptor nuclear signaling ²³ Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²³	12.04	SMAD3 TGFBR1 TGFBR2
25	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.02	SMAD3 TGFB2 TGFBR1 TGFBR2
26	TGF-beta Signaling Pathway (WikiPathways) ¹	12	SMAD3 TGFBR1 TGFBR2
27	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	12	SMAD3 TGFB2 TGFBR1 TGFBR2
28	Apelin signaling pathway ³⁸	12	ACTA2 MYLK SMAD3 TGFBR1
29	Osteoclast differentiation ³⁸	11.98	TGFB2 TGFBR1 TGFBR2
30	Platelet activation ³⁸	11.96	COL3A1 MYLK PRKG1
31	Th1 Differentiation Pathway ⁶⁶ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁶	11.96	SMAD3 TGFB2 TGFBR1 TGFBR2
32	SMAD Signaling Network ⁶⁵	11.94	ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
33	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	11.82	SMAD3 TGFBR1 TGFBR2
34	TGF-beta Signaling Pathways ⁶⁶	11.79	SMAD3 TGFB2 TGFBR1 TGFBR2
35	Elastic fibre formation ⁶⁷ Show member pathways Molecules associated with elastic fibres ⁶⁷	11.7	FBN1 LOX TGFB2
36	Adherens junction ³⁸	11.69	SMAD3 TGFBR1 TGFBR2
37	Development_TGF-beta receptor signaling ²³	11.68	SMAD3 TGFBR1 TGFBR2
38	TGF-beta receptor signaling activates SMADs ⁶⁷ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁷ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁷	11.67	SMAD3 TGFBR1 TGFBR2
39	Transcription_P53 signaling pathway ²³	11.56	ACTA2 SMAD3 TGFB2 TGFBR1 TGFBR2
40	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.55	COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
41	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.53	SMAD3 TGFBR1 TGFBR2
42	Cell adhesion_Plasmin signaling ²³	11.5	TGFB2 TGFBR1 TGFBR2
43	TGF-beta Receptor Signaling (WikiPathways) ¹	11.47	SMAD3 SMAD6 TGFBR1 TGFBR2
44	Microglia Activation During Neuroinflammation: Steady-State Microglia ⁶⁶	11.45	TGFB2 TGFBR1 TGFBR2
45	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁵ Show member pathways TOB in T-Cell Signaling ⁶⁵	11.41	ILK SMAD3 TGFB2 TGFBR1 TGFBR2
46	Smooth Muscle Contraction ⁶⁷	11.32	ACTA2 MYH11 MYLK
47	G-protein signaling_Cross-talk between Ras-family GTPases ²³	11.3	ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
48	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.15	TGFBR1 TGFBR2
49	Glypican 1 network ¹	11.12	TGFBR1 TGFBR2
50	Extracellular vesicle-mediated signaling in recipient cells ¹	11.03	SMAD3 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	cytosol	GO:0005829	9.65	ACTA2 APRT ILK LIMS1 MYH11 MYLK
2	protein-containing complex	GO:0032991	9.02	ACTA2 ILK LIMS1 SMAD3 SMAD6

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

(show all 45)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	9.99	SMAD3 SMAD6 TGFB2 TGFBR2
2	positive regulation of gene expression	GO:0010628	9.99	ACTA2 LIMS1 SMAD3 TGFBR1
3	positive regulation of cell migration	GO:0030335	9.9	ILK MYLK SMAD3 TGFBR1
4	peptidyl-serine phosphorylation	GO:0018105	9.86	ILK TGFBR1 TGFBR2
5	kidney development	GO:0001822	9.84	FBN1 TGFB2 TGFBR1
6	cell cycle arrest	GO:0007050	9.84	ILK SMAD3 TGFB2 TGFBR1
7	muscle contraction	GO:0006936	9.83	ACTA2 MYH11 MYLK
8	skeletal system development	GO:0001501	9.8	COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
9	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.78	SMAD3 SMAD6 TGFBR1 TGFBR2
10	ventricular septum morphogenesis	GO:0060412	9.74	TGFB2 TGFBR1 TGFBR2
11	epithelial to mesenchymal transition	GO:0001837	9.73	LIMS1 TGFB2 TGFBR1
12	cellular response to transforming growth factor beta stimulus	GO:0071560	9.73	FBN1 LIMS1 SMAD3 TGFBR1
13	embryonic cranial skeleton morphogenesis	GO:0048701	9.72	SMAD3 TGFBR1 TGFBR2
14	positive regulation of focal adhesion assembly	GO:0051894	9.7	LIMS1 SMAD3
15	cell-cell junction organization	GO:0045216	9.69	SMAD3 TGFB2
16	outflow tract septum morphogenesis	GO:0003148	9.69	SMAD6 TGFB2 TGFBR2
17	aorta development	GO:0035904	9.68	LOX SMAD6
18	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.68	TGFBR1 TGFBR2
19	cell junction assembly	GO:0034329	9.68	ILK LIMS1
20	smooth muscle contraction	GO:0006939	9.67	MYH11 MYLK
21	activin receptor signaling pathway	GO:0032924	9.67	SMAD3 TGFBR1
22	ventricular trabecula myocardium morphogenesis	GO:0003222	9.67	TGFB2 TGFBR1
23	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.67	SMAD3 SMAD6 TGFB2
24	collagen fibril organization	GO:0030199	9.67	COL3A1 LOX TGFB2 TGFBR1
25	regulation of epithelial cell proliferation	GO:0050678	9.65	LIMS1 SMAD3
26	negative regulation of immune response	GO:0050777	9.65	COL3A1 TGFB2
27	pulmonary valve morphogenesis	GO:0003184	9.64	SMAD6 TGFB2
28	secondary palate development	GO:0062009	9.64	TGFB2 TGFBR2
29	cardiac epithelial to mesenchymal transition	GO:0060317	9.63	TGFB2 TGFBR1
30	supramolecular fiber organization	GO:0097435	9.63	COL3A1 ILK
31	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.63	TGFB2 TGFBR1 TGFBR2
32	heart development	GO:0007507	9.63	COL3A1 FBN1 LOX TGFB2 TGFBR1 TGFBR2
33	atrioventricular valve morphogenesis	GO:0003181	9.62	TGFB2 TGFBR2
34	membranous septum morphogenesis	GO:0003149	9.62	TGFB2 TGFBR2
35	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.62	SMAD3 TGFB2 TGFBR1 TGFBR2
36	response to cholesterol	GO:0070723	9.61	TGFBR1 TGFBR2
37	elastic fiber assembly	GO:0048251	9.61	LOX MYH11
38	aorta smooth muscle tissue morphogenesis	GO:0060414	9.59	COL3A1 MYLK
39	endocardial cushion fusion	GO:0003274	9.58	TGFB2 TGFBR2
40	regulation of transforming growth factor beta2 production	GO:0032909	9.58	SMAD3 TGFB2
41	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	9.43	TGFB2 TGFBR1 TGFBR2
42	transforming growth factor beta receptor signaling pathway	GO:0007179	9.43	COL3A1 SMAD3 SMAD6 TGFB2 TGFBR1 TGFBR2
43	wound healing	GO:0042060	9.1	COL3A1 LOX SMAD3 TGFB2 TGFBR1 TGFBR2
44	phosphorylation	GO:0016310	10.05	ILK MYLK PRKG1 TGFBR1 TGFBR2
45	protein phosphorylation	GO:0006468	10	ILK MYLK PRKG1 TGFB2 TGFBR1 TGFBR2

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.88	ILK MYLK PRKG1 TGFBR1 TGFBR2
2	ATP binding	GO:0005524	9.8	ACTA2 ILK MYH11 MYLK PRKG1 TGFBR1
3	protein kinase activity	GO:0004672	9.72	ILK MYLK PRKG1 TGFBR1 TGFBR2
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	9.16	TGFB2 TGFBR1
14	SMAD binding	GO:0046332	8.92	COL3A1 SMAD3 TGFBR1 TGFBR2
15	protein binding	GO:0005515	10.36	COL3A1 FBN1 ILK LIMS1 LOX MYH11

Sources

Sources for Loeys-Dietz Syndrome 3

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Loeys-Dietz Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Articles related to Loeys-Dietz Syndrome 3:

Genes for Loeys-Dietz Syndrome 3

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

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