LDS3
MCID: LYS021
MIFTS: 58

Loeys-Dietz Syndrome 3 (LDS3)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 3

MalaCards integrated aliases for Loeys-Dietz Syndrome 3:

Name: Loeys-Dietz Syndrome 3 56 12 73 29 6 15 71
Loeys-Dietz Syndrome with Osteoarthritis 56 12 52 73
Aneurysms-Osteoarthritis Syndrome 56 12 52 73
Lds3 56 12 52 73
Aneurysm-Osteoarthritis Syndrome 52 58
Loeys-Dietz Syndrome, Type 3 52 13
Lds1c 12 73
Loeys-Dietz Syndrome, Type 1c, Formerly; Lds1c, Formerly 56
Loeys-Dietz Syndrome, Type 1c, Formerly 56
Aneurysm - Osteoarthritis Syndrome 52
Syndrome, Loeys-Dietz, Type 3 39
Loeys-Dietz Syndrome Type 1c 12
Loeys-Dietz Syndrome Type 3 52
Loeys-Dietz Syndrome 1c 73
Lds1c, Formerly 56
Aos 73

Characteristics:

Orphanet epidemiological data:

58
aneurysm-osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
loeys-dietz syndrome 3:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


Summaries for Loeys-Dietz Syndrome 3

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284984 Definition A 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 pulmonary hypertension and marfan 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 GPCR 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 : 73 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.

More information from OMIM: 613795 PS609192

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 231)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 28.4 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2 ACTA2
2 marfan syndrome 28.1 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 FBN1
3 arterial tortuosity syndrome 27.9 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
4 connective tissue disease 27.8 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
5 aortic dissection 27.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6 aneurysm 26.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7 heritable thoracic aortic disease 26.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
8 aortic aneurysm 25.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
9 loeys-dietz syndrome 25.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD4
10 aortic aneurysm, familial thoracic 1 24.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD4
11 adams-oliver syndrome 12.4
12 adams-oliver syndrome 1 11.9
13 atelosteogenesis, type ii 11.5
14 adams-oliver syndrome 5 11.3
15 oliver syndrome 11.3
16 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.2
17 aplasia cutis congenita, nonsyndromic 11.2
18 supravalvular aortic stenosis 11.2
19 aortic valve disease 2 11.2
20 adams-oliver syndrome 4 11.2
21 adams-oliver syndrome 6 11.2
22 progressive non-fluent aphasia 11.2
23 transient hypogammaglobulinemia of infancy 10.3 TGFBR2 TGFBR1
24 transient hypogammaglobulinemia 10.3 TGFBR2 TGFBR1
25 avascular necrosis 10.3
26 ectopia lentis 1, isolated, autosomal dominant 10.3 TGFBR2 FBN1
27 hypertelorism 10.3
28 scoliosis 10.3
29 ectopia lentis 2, isolated, autosomal recessive 10.3 TGFBR2 FBN1
30 eisenmenger syndrome 10.2 TGFBR2 TGFBR1
31 spinal cord injury 10.2
32 multiple self-healing squamous epithelioma 10.2 TGFBR2 TGFBR1
33 compartment syndrome 10.2
34 ureteric orifice cancer 10.2 FBN1 EFEMP2
35 osteoporosis 10.2
36 ovarian cancer 10.2
37 macular degeneration, age-related, 1 10.2
38 bone mineral density quantitative trait locus 8 10.2
39 bone mineral density quantitative trait locus 15 10.2
40 cataract 10.2
41 tendinosis 10.1 TGFBR2 TGFB2
42 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
43 spondylolisthesis 10.1
44 microvascular complications of diabetes 5 10.1
45 apraxia 10.1
46 q fever 10.1
47 eye disease 10.1
48 47,xyy 10.1
49 overgrowth syndrome 10.1
50 intracranial aneurysm 10.1 TGFBR2 TGFBR1 TGFB2

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



Diseases related to Loeys-Dietz Syndrome 3

Symptoms & Phenotypes for Loeys-Dietz Syndrome 3

Human phenotypes related to Loeys-Dietz Syndrome 3:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 58 31 very rare (1%) Very frequent (99-80%) HP:0001763
2 dilatation of the sinus of valsalva 58 31 hallmark (90%) Very frequent (99-80%) HP:0011645
3 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
4 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
5 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
6 dental malocclusion 58 31 very rare (1%) Frequent (79-30%) HP:0000689
7 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
8 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
9 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
10 aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0002647
11 arterial dissection 58 31 frequent (33%) Frequent (79-30%) HP:0005294
12 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
13 striae distensae 58 31 very rare (1%) Frequent (79-30%) HP:0001065
14 arachnodactyly 58 31 very rare (1%) Frequent (79-30%) HP:0001166
15 chronic fatigue 58 31 very rare (1%) Frequent (79-30%) HP:0012432
16 protrusio acetabuli 58 31 very rare (1%) Frequent (79-30%) HP:0003179
17 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
18 malar flattening 58 31 very rare (1%) Frequent (79-30%) HP:0000272
19 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
20 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
21 bruising susceptibility 58 31 very rare (1%) Frequent (79-30%) HP:0000978
22 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
23 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
24 uterine prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0000139
25 arterial tortuosity 58 31 very rare (1%) Frequent (79-30%) HP:0005116
26 osteoarthritis of the small joints of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0004268
27 dilatation of the cerebral artery 58 31 frequent (33%) Frequent (79-30%) HP:0004944
28 knee osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0005086
29 abnormality of bladder morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025487
30 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
31 cleft palate 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000175
32 osteoporosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000939
33 retrognathia 58 31 very rare (1%) Occasional (29-5%) HP:0000278
34 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
35 joint laxity 58 31 very rare (1%) Occasional (29-5%) HP:0001388
36 left ventricular hypertrophy 58 31 very rare (1%) Occasional (29-5%) HP:0001712
37 disproportionate tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001519
38 dural ectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100775
39 spondylolisthesis 58 31 very rare (1%) Occasional (29-5%) HP:0003302
40 patent ductus arteriosus 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001643
41 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
42 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
43 atrial fibrillation 58 31 very rare (1%) Occasional (29-5%) HP:0005110
44 osteochondritis dissecans 58 31 occasional (7.5%) Occasional (29-5%) HP:0010886
45 intervertebral disc degeneration 58 31 very rare (1%) Occasional (29-5%) HP:0008419
46 abdominal aortic aneurysm 31 very rare (1%) HP:0005112
47 craniosynostosis 58 31 very rare (1%) Excluded (0%) HP:0001363
48 cataract 31 very rare (1%) HP:0000518
49 talipes equinovarus 31 very rare (1%) HP:0001762
50 dolichocephaly 31 very rare (1%) HP:0000268

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Spine:
scoliosis
dural ectasia
spondylolisthesis
intervertebral disc degeneration
facet joint osteoarthritis
more
Skeletal Feet:
pes planus
foot osteoarthritis

Skeletal Limbs:
joint laxity
osteochondritis dissecans
knee osteoarthritis
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)

Head And Neck Eyes:
hypertelorism

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:

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.32 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.32 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.32 SMAD2 SMAD4 TGFB2 TGFBR1 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.32 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.32 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.32 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.32 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.32 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.32 TGFBR1 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.32 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.32 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.32 TGFBR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.32 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.32 SMAD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.32 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.32 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.32 SMAD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.32 TGFB2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.32 TGFBR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.32 SMAD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.32 SMAD2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.32 SMAD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.32 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.32 TGFBR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.32 SMAD2 SMAD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.32 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.32 TGFBR2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.32 TGFB2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.32 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.32 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.32 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.32 TGFB2 TGFBR1 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.32 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.32 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.32 TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.32 TGFBR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.32 TGFBR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.32 TGFBR1
39 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 MYLK SMAD2 SMAD4 TGFBR2
40 Decreased mitotic index GR00110-A-0 8.85 TGFBR2

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 3:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 ACTA2 EFEMP2 FBN1 MYH11 MYLK SLC2A10
2 cellular MP:0005384 10.27 EFEMP2 FBN1 MYH11 SMAD2 SMAD3 SMAD4
3 homeostasis/metabolism MP:0005376 10.24 FBN1 MYH11 MYLK SMAD2 SMAD3 SMAD4
4 growth/size/body region MP:0005378 10.22 FBN1 MYH11 MYLK SMAD2 SMAD3 SMAD4
5 digestive/alimentary MP:0005381 10.2 MYH11 MYLK SMAD2 SMAD3 SMAD4 TGFB2
6 immune system MP:0005387 10.18 FBN1 MYLK SLC2A10 SMAD2 SMAD3 SMAD4
7 mortality/aging MP:0010768 10.18 EFEMP2 FBN1 MYH11 MYLK SMAD2 SMAD3
8 hematopoietic system MP:0005397 10.16 FBN1 SLC2A10 SMAD2 SMAD3 SMAD4 TGFB2
9 embryo MP:0005380 10.14 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
10 craniofacial MP:0005382 10.1 FBN1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3
11 muscle MP:0005369 10.07 ACTA2 EFEMP2 FBN1 MYH11 MYLK SMAD4
12 integument MP:0010771 10.06 EFEMP2 FBN1 MYH11 SMAD2 SMAD3 SMAD4
13 limbs/digits/tail MP:0005371 9.91 EFEMP2 FBN1 SMAD3 SMAD4 TGFB2 TGFB3
14 normal MP:0002873 9.87 EFEMP2 MYLK SMAD2 SMAD4 TGFB3 TGFBR1
15 renal/urinary system MP:0005367 9.86 FBN1 MYH11 MYLK SLC2A10 SMAD3 SMAD4
16 respiratory system MP:0005388 9.81 EFEMP2 FBN1 MYH11 SLC2A10 SMAD2 TGFB2
17 skeleton MP:0005390 9.65 EFEMP2 FBN1 MYLK SMAD2 SMAD3 SMAD4
18 vision/eye MP:0005391 9.17 ACTA2 EFEMP2 SMAD2 SMAD3 TGFB2 TGFB3

Drugs & Therapeutics for Loeys-Dietz Syndrome 3

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

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

Anatomical Context for Loeys-Dietz Syndrome 3

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

40
Heart, Skin, Bone

Publications for Loeys-Dietz Syndrome 3

Articles related to Loeys-Dietz Syndrome 3:

(show all 23)
# Title Authors PMID Year
1
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 6 56
22167769 2012
2
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. 56 6
21815248 2011
3
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 6 56
21778426 2011
4
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 56 6
21217753 2011
5
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. 6
27854360 2017
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
7
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). 6
25173340 2014
8
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
10
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 6
18781618 2008
11
Loeys-Dietz Syndrome 6
20301312 2008
12
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 6
16799921 2006
13
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly. 61
32100971 2020
14
Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection. 61
32022471 2020
15
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. 61
31096651 2019
16
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. 61
28541520 2017
17
[Loeys-Dietz Syndrome, 3 generations, 4 familial cases]. 61
28737872 2017
18
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 61
28185953 2017
19
Straight incision for extended descending and thoracoabdominal aortic replacement: novel and simple exposure with rib-cross thoracotomy. 61
27209533 2016
20
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 61
25163805 2014
21
Formate dehydrogenase, an enzyme of anaerobic metabolism, is induced by iron deficiency in barley roots. 61
9489019 1998
22
Transfer of habituation between stimulation sites of the siphon withdrawal reflex in Aplysia californica. 61
6616335 1983
23
Central and peripheral control of siphon-withdrawal reflex in Aplysia californica. 61
217974 1979

Variations for Loeys-Dietz Syndrome 3

ClinVar genetic disease variations for Loeys-Dietz Syndrome 3:

6 (show top 50) (show all 125) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD3 NM_005902.4(SMAD3):c.668del (p.Pro223fs)deletion Pathogenic 694384 15:67473587-67473587 15:67181249-67181249
2 SMAD3 NM_005902.4(SMAD3):c.736del (p.Glu246fs)deletion Pathogenic 694380 15:67473653-67473653 15:67181315-67181315
3 SMAD3 NM_005902.4(SMAD3):c.874del (p.Arg292fs)deletion Pathogenic 694383 15:67477066-67477066 15:67184728-67184728
4 SMAD3 NM_005902.4(SMAD3):c.266_268GCC[3] (p.Arg90dup)short repeat Pathogenic 694381 15:67457291-67457292 15:67164953-67164954
5 SMAD3 NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)deletion Pathogenic 30307 rs587776880 15:67473661-67473662 15:67181323-67181324
6 SMAD3 NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)SNV Pathogenic 30308 rs387906851 15:67473702-67473702 15:67181364-67181364
7 SMAD3 NM_005902.4(SMAD3):c.653del (p.Asn218fs)deletion Pathogenic 30309 rs587776881 15:67462936-67462936 15:67170598-67170598
8 SMAD3 NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)SNV Pathogenic 30310 rs387906852 15:67473756-67473756 15:67181418-67181418
9 SMAD3 NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)SNV Pathogenic 30315 rs387906856 15:67479774-67479774 15:67187436-67187436
10 SMAD3 NM_005902.4(SMAD3):c.313del (p.Ala105fs)deletion Pathogenic 30313 rs587776882 15:67457337-67457337 15:67164999-67164999
11 SMAD3 NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)SNV Pathogenic/Likely pathogenic 30306 rs387906850 15:67473779-67473779 15:67181441-67181441
12 SMAD3 NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu)indel Likely pathogenic 694382 15:67457360-67457361 15:67165022-67165023
13 SMAD3 NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu)SNV Likely pathogenic 803102 15:67479787-67479787 15:67187449-67187449
14 SMAD3 NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)SNV Likely pathogenic 694385 15:67477184-67477184 15:67184846-67184846
15 SMAD3 NM_005902.4(SMAD3):c.789del (p.Ser264fs)deletion Likely pathogenic 834060 15:67473706-67473706 15:67181368-67181368
16 SMAD3 NM_005902.4(SMAD3):c.12C>T (p.Ile4=)SNV Conflicting interpretations of pathogenicity 701973 15:67358504-67358504 15:67066166-67066166
17 SMAD3 NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)SNV Conflicting interpretations of pathogenicity 700083 15:67479752-67479752 15:67187414-67187414
18 SMAD3 NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)SNV Conflicting interpretations of pathogenicity 30311 rs387906853 15:67473635-67473635 15:67181297-67181297
19 SMAD3 NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)SNV Conflicting interpretations of pathogenicity 263520 rs886038836 15:67479846-67479846 15:67187508-67187508
20 SMAD3 NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)SNV Conflicting interpretations of pathogenicity 405561 rs1060500766 15:67479811-67479811 15:67187473-67187473
21 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)SNV Conflicting interpretations of pathogenicity 471759 rs1246889300 15:66995638-66995638 15:66703300-66703300
22 SMAD3 NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)SNV Conflicting interpretations of pathogenicity 30314 rs387906855 15:67473708-67473708 15:67181370-67181370
23 SMAD3 NM_005902.4(SMAD3):c.*789A>GSNV Conflicting interpretations of pathogenicity 316887 rs191679355 15:67483663-67483663 15:67191325-67191325
24 SMAD3 NM_005902.4(SMAD3):c.607+9T>ASNV Conflicting interpretations of pathogenicity 316861 rs886051380 15:67459200-67459200 15:67166862-67166862
25 SMAD3 NM_005902.4(SMAD3):c.*1790G>ASNV Conflicting interpretations of pathogenicity 316916 rs530788405 15:67484664-67484664 15:67192326-67192326
26 SMAD3 NM_005902.4(SMAD3):c.*2028T>CSNV Conflicting interpretations of pathogenicity 316926 rs549152312 15:67484902-67484902 15:67192564-67192564
27 SMAD3 NM_005902.4(SMAD3):c.*2547C>TSNV Conflicting interpretations of pathogenicity 316942 rs72661161 15:67485421-67485421 15:67193083-67193083
28 SMAD3 NM_005902.4(SMAD3):c.*250C>ASNV Uncertain significance 316867 rs754034578 15:67483124-67483124 15:67190786-67190786
29 SMAD3 NM_005902.4(SMAD3):c.*552G>CSNV Uncertain significance 316876 rs769408016 15:67483426-67483426 15:67191088-67191088
30 SMAD3 NM_005902.4(SMAD3):c.*1315C>TSNV Uncertain significance 316898 rs886051391 15:67484189-67484189 15:67191851-67191851
31 SMAD3 NM_005902.4(SMAD3):c.*1597G>CSNV Uncertain significance 316907 rs886051398 15:67484471-67484471 15:67192133-67192133
32 SMAD3 NM_005902.4(SMAD3):c.*1819C>TSNV Uncertain significance 316919 rs886051406 15:67484693-67484693 15:67192355-67192355
33 SMAD3 NM_005902.4(SMAD3):c.-265T>GSNV Uncertain significance 316852 rs886051373 15:67358228-67358228 15:67065890-67065890
34 SMAD3 NM_005902.4(SMAD3):c.-240G>TSNV Uncertain significance 316854 rs886051375 15:67358253-67358253 15:67065915-67065915
35 SMAD3 NM_005902.4(SMAD3):c.-164A>CSNV Uncertain significance 316857 rs886051378 15:67358329-67358329 15:67065991-67065991
36 SMAD3 NM_005902.4(SMAD3):c.*626C>TSNV Uncertain significance 316881 rs886051385 15:67483500-67483500 15:67191162-67191162
37 SMAD3 NM_005902.4(SMAD3):c.*925G>ASNV Uncertain significance 316890 rs886051389 15:67483799-67483799 15:67191461-67191461
38 SMAD3 NM_005902.4(SMAD3):c.*1326A>GSNV Uncertain significance 316900 rs886051392 15:67484200-67484200 15:67191862-67191862
39 SMAD3 NM_005902.4(SMAD3):c.*2046T>CSNV Uncertain significance 316928 rs761162475 15:67484920-67484920 15:67192582-67192582
40 SMAD3 NM_005902.4(SMAD3):c.*2403C>TSNV Uncertain significance 316938 rs755985886 15:67485277-67485277 15:67192939-67192939
41 SMAD3 NM_005902.4(SMAD3):c.*2476A>CSNV Uncertain significance 316941 rs886051417 15:67485350-67485350 15:67193012-67193012
42 SMAD3 NM_005902.4(SMAD3):c.*304C>TSNV Uncertain significance 316871 rs565932125 15:67483178-67483178 15:67190840-67190840
43 SMAD3 NM_005902.4(SMAD3):c.-244G>ASNV Uncertain significance 316853 rs886051374 15:67358249-67358249 15:67065911-67065911
44 SMAD3 NM_005902.4(SMAD3):c.-217C>TSNV Uncertain significance 316855 rs886051376 15:67358276-67358276 15:67065938-67065938
45 SMAD3 NM_005902.4(SMAD3):c.*1641T>GSNV Uncertain significance 316909 rs886051400 15:67484515-67484515 15:67192177-67192177
46 SMAD3 NM_005902.4(SMAD3):c.*1767G>CSNV Uncertain significance 316913 rs533635017 15:67484641-67484641 15:67192303-67192303
47 SMAD3 NM_005902.4(SMAD3):c.*2285G>ASNV Uncertain significance 316935 rs62014609 15:67485159-67485159 15:67192821-67192821
48 SMAD3 NM_005902.4(SMAD3):c.*2303G>CSNV Uncertain significance 316937 rs886051415 15:67485177-67485177 15:67192839-67192839
49 SMAD6 NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser)SNV Uncertain significance 471763 rs781458675 15:66996410-66996410 15:66704072-66704072
50 SMAD3 NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)SNV Uncertain significance 477579 rs863223739 15:67473707-67473707 15:67181369-67181369

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

73
# 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

Expression for Loeys-Dietz Syndrome 3

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

Pathways for Loeys-Dietz Syndrome 3

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

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Show member pathways
13.68 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.52 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4
Show member pathways
13.51 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Show member pathways
13.46 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
6
Show member pathways
13.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7
Show member pathways
13.14 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD6 SMAD4
8
Show member pathways
13.07 TGFBR1 TGFB3 TGFB2 FBN1 EFEMP2 ACTA2
9
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 MYH11 ACTA2
10
Show member pathways
12.95 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11 12.93 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Show member pathways
12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
13
Show member pathways
12.87 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.83 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
15 12.71 TGFBR2 TGFBR1 TGFB3 TGFB2
16
Show member pathways
12.69 TGFB3 TGFB2 FBN1 EFEMP2
17
Show member pathways
12.68 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18
Show member pathways
12.63 TGFBR2 TGFBR1 SMAD2 ACTA2
19
Show member pathways
12.55 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20
Show member pathways
12.51 SMAD6 SMAD4 SMAD3 SMAD2
21
Show member pathways
12.49 SMAD6 SMAD4 SMAD3 SMAD2
22 12.44 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
23 12.41 TGFBR2 TGFBR1 SMAD3 SMAD2
24 12.41 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
25
Show member pathways
12.38 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
26 12.36 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
27
Show member pathways
12.33 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3 SMAD2
28 12.27 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
29 12.26 TGFBR2 TGFBR1 SMAD6 SMAD4 SMAD2
30 12.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
31 12.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
32 12.19 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
33
Show member pathways
12.19 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
34 12.18 TGFBR1 SMAD4 SMAD3 SMAD2 MYLK ACTA2
35 12.07 TGFBR2 TGFB2 SLC2A10
36 12.07 SMAD4 SMAD3 SMAD2
37 12.02 TGFBR2 TGFBR1 TGFB2
38
Show member pathways
12.01 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
39 11.95 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
40
Show member pathways
11.92 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
41 11.89 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42 11.88 TGFB3 TGFB2 ACTA2
43 11.87 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
44 11.85 TGFBR1 TGFB3 TGFB2
45
Show member pathways
11.85 TGFB3 TGFB2 FBN1 EFEMP2
46
Show member pathways
11.85 TGFBR2 TGFBR1 SMAD4 SMAD3 SMAD2
47 11.83 TGFBR2 TGFBR1 SMAD4 SMAD3
48
Show member pathways
11.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
49 11.78 SMAD4 SMAD3 SMAD2
50 11.72 TGFBR2 TGFBR1 SMAD6 SMAD4 SMAD3 SMAD2

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 collagen-containing extracellular matrix GO:0062023 9.62 TGFB3 TGFB2 FBN1 EFEMP2
2 transcription factor complex GO:0005667 9.56 SMAD6 SMAD4 SMAD3 SMAD2
3 activin responsive factor complex GO:0032444 9.16 SMAD4 SMAD2
4 heteromeric SMAD protein complex GO:0071144 8.96 SMAD3 SMAD2
5 SMAD protein complex GO:0071141 8.8 SMAD4 SMAD3 SMAD2

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.13 TGFBR1 TGFB3 SMAD4 SMAD3 SMAD2 ACTA2
2 protein phosphorylation GO:0006468 10.12 TGFBR2 TGFBR1 TGFB2 SMAD2 MYLK
3 positive regulation of gene expression GO:0010628 10.08 TGFBR1 SMAD3 SMAD2 SLC2A10 ACTA2
4 negative regulation of cell proliferation GO:0008285 10.05 TGFBR2 TGFB3 TGFB2 SMAD6 SMAD4 SMAD3
5 heart development GO:0007507 10.02 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
6 protein deubiquitination GO:0016579 10 TGFBR1 SMAD4 SMAD3 SMAD2
7 regulation of cell proliferation GO:0042127 9.99 TGFBR2 TGFB3 TGFB2 SMAD4
8 response to hypoxia GO:0001666 9.99 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
9 in utero embryonic development GO:0001701 9.97 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 SMAD2
10 skeletal system development GO:0001501 9.96 TGFBR1 TGFB2 SMAD3 FBN1
11 kidney development GO:0001822 9.93 TGFBR1 TGFB2 SMAD4 FBN1
12 cell cycle arrest GO:0007050 9.91 TGFBR1 TGFB2 SMAD3
13 negative regulation of cell growth GO:0030308 9.91 TGFB2 SMAD4 SMAD3
14 anterior/posterior pattern specification GO:0009952 9.91 TGFBR1 SMAD4 SMAD2
15 BMP signaling pathway GO:0030509 9.91 TGFB3 TGFB2 SMAD6 SMAD4
16 muscle contraction GO:0006936 9.9 MYLK MYH11 ACTA2
17 male gonad development GO:0008584 9.9 TGFBR1 TGFB2 SMAD4
18 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.88 TGFBR1 TGFB3 TGFB2 SMAD4
19 response to estrogen GO:0043627 9.87 TGFBR2 TGFB3 SMAD6
20 cellular response to transforming growth factor beta stimulus GO:0071560 9.86 TGFBR1 SMAD3 FBN1
21 ventricular septum morphogenesis GO:0060412 9.86 TGFBR2 TGFBR1 TGFB2 SMAD4
22 positive regulation of stress fiber assembly GO:0051496 9.85 TGFBR1 TGFB3 SMAD3
23 ureteric bud development GO:0001657 9.85 SMAD6 SMAD3 SMAD2
24 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.85 TGFB2 SMAD6 SMAD3
25 gastrulation GO:0007369 9.85 TGFBR2 SMAD4 SMAD3 SMAD2
26 embryonic cranial skeleton morphogenesis GO:0048701 9.84 TGFBR2 TGFBR1 SMAD3 SMAD2
27 endoderm development GO:0007492 9.83 SMAD4 SMAD3 SMAD2
28 developmental growth GO:0048589 9.81 SMAD4 SMAD3 SMAD2
29 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.8 SMAD4 SMAD3 SMAD2
30 cell-cell junction organization GO:0045216 9.8 TGFB3 TGFB2 SMAD3
31 wound healing GO:0042060 9.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
32 positive regulation of SMAD protein signal transduction GO:0060391 9.78 TGFBR1 TGFB3 SMAD4
33 pathway-restricted SMAD protein phosphorylation GO:0060389 9.77 TGFBR2 TGFBR1 TGFB2
34 SMAD protein signal transduction GO:0060395 9.77 TGFB3 TGFB2 SMAD4 SMAD3 SMAD2
35 response to cholesterol GO:0070723 9.76 TGFBR2 TGFBR1 SMAD2
36 adrenal gland development GO:0030325 9.74 SMAD3 SMAD2
37 signal transduction involved in regulation of gene expression GO:0023019 9.74 SMAD3 SMAD2
38 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.74 TGFBR2 TGFBR1
39 smooth muscle contraction GO:0006939 9.74 MYLK MYH11
40 SMAD protein complex assembly GO:0007183 9.74 SMAD4 SMAD3 SMAD2
41 uterus development GO:0060065 9.73 TGFB2 SMAD4
42 ventricular trabecula myocardium morphogenesis GO:0003222 9.73 TGFBR1 TGFB2
43 pulmonary valve morphogenesis GO:0003184 9.73 TGFB2 SMAD6
44 outflow tract septum morphogenesis GO:0003148 9.73 TGFBR2 TGFB2 SMAD6 SMAD4
45 cardiac epithelial to mesenchymal transition GO:0060317 9.72 TGFBR1 TGFB2
46 atrioventricular valve morphogenesis GO:0003181 9.72 TGFBR2 TGFB2
47 elastic fiber assembly GO:0048251 9.72 MYH11 EFEMP2
48 endothelial cell activation GO:0042118 9.72 TGFBR1 SMAD4
49 nodal signaling pathway GO:0038092 9.71 SMAD3 SMAD2
50 primary miRNA processing GO:0031053 9.71 SMAD3 SMAD2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 proximal promoter sequence-specific DNA binding GO:0000987 9.67 SMAD4 SMAD3 SMAD2
2 SMAD binding GO:0046332 9.67 TGFBR2 TGFBR1 SMAD3 SMAD2
3 transforming growth factor beta binding GO:0050431 9.61 TGFBR2 TGFBR1 TGFB3
4 co-SMAD binding GO:0070410 9.58 SMAD6 SMAD3 SMAD2
5 transcription coactivator binding GO:0001223 9.57 SMAD4 SMAD3
6 activin binding GO:0048185 9.56 TGFBR2 TGFBR1
7 R-SMAD binding GO:0070412 9.56 SMAD6 SMAD4 SMAD3 SMAD2
8 enhancer binding GO:0035326 9.55 SMAD3 SMAD2
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.54 TGFBR2 TGFBR1
10 primary miRNA binding GO:0070878 9.52 SMAD3 SMAD2
11 transforming growth factor beta-activated receptor activity GO:0005024 9.51 TGFBR2 TGFBR1
12 type II transforming growth factor beta receptor binding GO:0005114 9.5 TGFBR1 TGFB3 TGFB2
13 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.48 SMAD3 SMAD2
14 type III transforming growth factor beta receptor binding GO:0034714 9.46 TGFB3 TGFB2
15 transforming growth factor beta receptor binding GO:0005160 9.46 TGFB3 TGFB2 SMAD3 SMAD2
16 I-SMAD binding GO:0070411 9.26 TGFBR1 SMAD6 SMAD4 SMAD2
17 type I transforming growth factor beta receptor binding GO:0034713 8.92 TGFBR2 TGFB3 SMAD6 SMAD2

Sources for Loeys-Dietz Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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