LDS2
MCID: LYS018
MIFTS: 50

Loeys-Dietz Syndrome 2 (LDS2)

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

Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 56 12 52 73 29 6 15
Marfan Syndrome Type 2 58 73 29 71
Lds2 56 12 73
Aat3 56 12 73
Aortic Aneurysm, Familial Thoracic 3 56 71
Loeys-Dietz Syndrome Type 2 52 71
Marfan Syndrome Type Ii 12 74
Mfs2 58 73
Aortic Aneurysm, Familial Thoracic 3; Aat3 56
Thoracic Aortic Aneurysms and Dissection 2 73
Familial Aortic Aneurysm Thoracic Type 3 73
Familial Throacic Aortic Aneurysm 3 12
Marfan Syndrome, Type Ii, Formerly 56
Syndrome, Loeys-Dietz, Type 2 39
Taad2 73

Characteristics:

Orphanet epidemiological data:

58
marfan syndrome type 2
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
loeys-dietz syndrome 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot : 73 Loeys-Dietz syndrome 2: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit.

MalaCards based summary : Loeys-Dietz Syndrome 2, also known as marfan syndrome type 2, is related to loeys-dietz syndrome and ascending cholangitis. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Glutathione metabolism and NRF2 pathway. Affiliated tissues include skin, spleen and brain, and related phenotypes are intellectual disability and hydrocephalus

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

Wikipedia : 74 Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

More information from OMIM: 610168 PS607086 PS609192

Related Diseases for Loeys-Dietz Syndrome 2

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 27.1 TTC3 TMPO-AS1 TMPO TGFBR2 TAAR9 SUGCT
2 ascending cholangitis 10.3 GGTLC3 GGT2
3 suppurative cholangitis 10.3 GGTLC3 GGT2
4 bile duct rhabdomyosarcoma 10.2 GGTLC3 GGT2 GGT1
5 aneurysm 10.2
6 bile duct sarcoma 10.2 GGTLC3 GGT2 GGT1
7 splenic tuberculosis 10.2 GGTLC3 GGT2 GGT1
8 gallbladder papillary carcinoma 10.2 GGTLC3 GGT2 GGT1
9 extrahepatic bile duct adenoma 10.2 GGTLC3 GGT2 GGT1
10 optic nerve astrocytoma 10.2 GGTLC3 GGT2 GGT1
11 myasthenic syndrome, congenital, 3b, fast-channel 10.2 GGTLC3 GGT2 GGT1
12 algoneurodystrophy 10.2 GGTLC3 GGT2 GGT1
13 giant axonal neuropathy 1, autosomal recessive 10.2 GGTLC3 GGT2 GGT1
14 acute cholangitis 10.2 GGTLC3 GGT2 GGT1
15 retinitis pigmentosa 48 10.2 GGTLC3 GGT2 GGT1
16 bile duct cysts 10.2 GGTLC3 GGT2 GGT1
17 viral laryngitis 10.2 GGTLC3 GGT2 GGT1
18 bile acid synthesis defect, congenital, 3 10.2 GGTLC3 GGT2 GGT1
19 common bile duct disease 10.2 GGTLC3 GGT2 GGT1
20 bile duct disease 10.2 GGTLC3 GGT2 GGT1
21 bile acid synthesis defect, congenital, 1 10.2 GGTLC3 GGT2 GGT1
22 esophageal varix 10.2 GGTLC3 GGT2 GGT1
23 choledocholithiasis 10.2 GGTLC3 GGT2 GGT1
24 hepatic vascular disease 10.1 GGTLC3 GGT2 GGT1
25 autoimmune disease of urogenital tract 10.1 GGTLC3 GGT2 GGT1
26 cholestasis, progressive familial intrahepatic, 1 10.1 GGTLC3 GGT2 GGT1
27 vein disease 10.1 GGTLC3 GGT2 GGT1
28 bilirubin metabolic disorder 10.1 GGTLC3 GGT2 GGT1
29 lipid storage disease 10.1 GGTLC3 GGT2 GGT1
30 cholangitis, primary sclerosing 10.1 GGTLC3 GGT2 GGT1
31 deafness, autosomal dominant 59 10.1 GGTLC3 GGT2 GGT1 GGCT
32 alcohol use disorder 10.0 GGTLC3 GGT2 GGT1
33 lens disease 10.0 GGTLC3 GGT2 GGT1 GGCT
34 gallbladder disease 10.0 GGTLC3 GGT2 GGT1
35 loeys-dietz syndrome 1 10.0 TGFBR2 SLC6A11 GPT2
36 familial adenomatous polyposis 2 10.0 GGTLC3 GGT2
37 biliary tract disease 10.0 GGTLC3 GGT2 GGT1
38 inherited metabolic disorder 10.0 GGTLC3 GGT2 GGT1
39 cleft palate, isolated 9.9
40 marfan syndrome 9.9
41 orthostatic intolerance 9.9
42 mitral valve insufficiency 9.9
43 connective tissue disease 9.9
44 cholestasis, progressive familial intrahepatic, 3 9.9 GGTLC3 GGT2
45 dientamoebiasis 9.8 GGTLC3 GGT2 GGT1 GGCT ADCY3
46 amelogenesis imperfecta, type if 9.8 GGTLC3 GGT2 GGT1 GGCT GGA3
47 deficiency anemia 9.7 GGTLC3 GGT2 GGT1 GGCT
48 cataract 34, multiple types 9.3 SUGCT SRSF7 GGTLC3 GGT2 GGT1 GGCT
49 cataract 4, multiple types 8.1 TTC3 TAAR9 SUGCT SRSF7 SLC6A11 GGTLC3

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 2:



Diseases related to Loeys-Dietz Syndrome 2

Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

Human phenotypes related to Loeys-Dietz Syndrome 2:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 hydrocephalus 31 occasional (7.5%) HP:0000238
3 global developmental delay 31 occasional (7.5%) HP:0001263
4 inguinal hernia 31 occasional (7.5%) HP:0000023
5 umbilical hernia 31 occasional (7.5%) HP:0001537
6 craniosynostosis 31 occasional (7.5%) HP:0001363
7 osteoporosis 31 occasional (7.5%) HP:0000939
8 cleft palate 31 occasional (7.5%) HP:0000175
9 atrial septal defect 31 occasional (7.5%) HP:0001631
10 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
11 mitral valve prolapse 31 occasional (7.5%) HP:0001634
12 arnold-chiari malformation 31 occasional (7.5%) HP:0002308
13 disproportionate tall stature 31 occasional (7.5%) HP:0001519
14 bicuspid pulmonary valve 31 occasional (7.5%) HP:0005182
15 syndactyly 31 occasional (7.5%) HP:0001159
16 dilatation of the cerebral artery 31 occasional (7.5%) HP:0004944
17 polydactyly 31 occasional (7.5%) HP:0010442
18 postaxial polydactyly 31 occasional (7.5%) HP:0100259
19 absent distal phalanges 31 occasional (7.5%) HP:0005807
20 descending thoracic aorta aneurysm 31 occasional (7.5%) HP:0004959
21 malar flattening 31 HP:0000272
22 hypertelorism 31 HP:0000316
23 pectus excavatum 31 HP:0000767
24 scoliosis 31 HP:0002650
25 pectus carinatum 31 HP:0000768
26 pes planus 31 HP:0001763
27 brachydactyly 31 HP:0001156
28 micrognathia 31 HP:0000347
29 retrognathia 31 HP:0000278
30 patent ductus arteriosus 31 HP:0001643
31 joint laxity 31 HP:0001388
32 talipes equinovarus 31 HP:0001762
33 proptosis 31 HP:0000520
34 striae distensae 31 HP:0001065
35 arachnodactyly 31 HP:0001166
36 spontaneous pneumothorax 31 HP:0002108
37 protrusio acetabuli 31 HP:0003179
38 spondylolisthesis 31 HP:0003302
39 ascending aortic dissection 31 HP:0004933
40 blue sclerae 31 HP:0000592
41 bifid uvula 31 HP:0000193
42 camptodactyly 31 HP:0012385
43 exotropia 31 HP:0000577
44 dermal translucency 31 HP:0010648
45 joint contracture of the hand 31 HP:0009473
46 pulmonary artery aneurysm 31 HP:0004937
47 ascending tubular aorta aneurysm 31 HP:0004970
48 generalized arterial tortuosity 31 HP:0004955
49 eosinophilic infiltration of the esophagus 31 HP:0410151

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Skeletal Hands:
brachydactyly
arachnodactyly
camptodactyly
contractures
postaxial polydactyly (rare)
more
Cardiovascular Vascular:
patent ductus arteriosus
ascending aortic dissection
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
Skeletal Feet:
talipes equinovarus

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

Abdomen External Features:
umbilical hernia (rare)
inguinal hernia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Skin:
velvety texture
translucent skin

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia
retrognathia

Skeletal:
joint laxity
osteoporosis (in some patients)
low-impact fractures (in some patients)

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

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

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

Growth Other:
dolichostenomelia (uncommon)

Clinical features from OMIM:

610168

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 TGFBR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.78 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.78 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 GGT2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.78 GGT2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.78 GGT1 GGT2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.78 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.78 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 GGT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.78 GGT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.78 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.78 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 GGT1 GGT2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.78 GGT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.78 GGT2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.78 GGT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.78 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.78 TGFBR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.78 GGT1 GGT2 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.78 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.78 TGFBR2

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 2

Genetic Tests for Loeys-Dietz Syndrome 2

Genetic tests related to Loeys-Dietz Syndrome 2:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 2 29 TGFBR2
2 Marfan Syndrome Type 2 29

Anatomical Context for Loeys-Dietz Syndrome 2

MalaCards organs/tissues related to Loeys-Dietz Syndrome 2:

40
Skin, Spleen, Brain, Uterus, Eye, Bone, Colon

Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

(show all 41)
# Title Authors PMID Year
1
Heterozygous TGFBR2 mutations in Marfan syndrome. 61 56 6
15235604 2004
2
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 56 6
20358619 2010
3
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 56 6
16928994 2006
4
Molecular pathology of Shprintzen-Goldberg syndrome. 56 6
16333834 2006
5
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 56 6
16251899 2006
6
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 56 6
16027248 2005
7
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 56 6
15731757 2005
8
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. 56 6
12821554 2003
9
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. 56 6
8317497 1993
10
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. 61 56
8946175 1996
11
Extreme phenotypes of Loeys Dietz syndrome. 6
28225382 2017
12
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
13
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 56
27879313 2016
14
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
15
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. 56
24344637 2014
16
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
17
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
18
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. 56
24194458 2014
19
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
20
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 56
19996017 2009
21
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 56
19542084 2009
22
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 56
19006214 2008
23
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
24
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 56
18978651 2008
25
Loeys-Dietz Syndrome 6
20301312 2008
26
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 6
16885183 2006
27
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 6
16799921 2006
28
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. 56
12975342 2003
29
Transforming growth factor beta in cardiovascular development and function. 56
12948523 2003
30
Heritable Thoracic Aortic Disease Overview 6
20301299 2003
31
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 6
9927040 1999
32
TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. 56
9217007 1997
33
Reply to "The question of heterogeneity in Marfan syndrome" 56
21836810 1995
34
The question of heterogeneity in Marfan syndrome. 56
7773282 1995
35
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. 56
7632217 1994
36
Marfan syndrome or Marfan-like connective-tissue disorder. 56
8116625 1994
37
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. 56
1969488 1990
38
The neuromuscular differential diagnosis of joint hypermobility. 61
25821091 2015
39
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. 61
21567932 2011
40
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 61
21098638 2010
41
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 61
16791849 2006

Variations for Loeys-Dietz Syndrome 2

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)SNV Pathogenic 12504 rs121918715 3:30730003-30730003 3:30688511-30688511
2 TGFBR2 NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)SNV Pathogenic 12505 rs28934568 3:30713598-30713598 3:30672106-30672106
3 TGFBR2 NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)SNV Pathogenic 12506 rs104893807 3:30715688-30715688 3:30674196-30674196
4 TGFBR2 NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)SNV Pathogenic 12507 rs104893809 3:30732996-30732996 3:30691504-30691504
5 TGFBR2 NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)SNV Pathogenic 12508 rs104893812 3:30713681-30713681 3:30672189-30672189
6 TGFBR2 NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)SNV Pathogenic 12509 rs104893813 3:30713738-30713738 3:30672246-30672246
7 TGFBR2 NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)SNV Pathogenic 12510 rs104893814 3:30713744-30713744 3:30672252-30672252
8 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)SNV Pathogenic 12511 rs104893815 3:30732970-30732970 3:30691478-30691478
9 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)SNV Pathogenic 12512 rs104893810 3:30732969-30732969 3:30691477-30691477
10 TGFBR2 NM_003242.6(TGFBR2):c.95-2A>GSNV Pathogenic 12513 3:30686237-30686237 3:30644745-30644745
11 TGFBR2 NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)SNV Pathogenic 12514 rs104893811 3:30715720-30715720 3:30674228-30674228
12 TGFBR2 NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)SNV Pathogenic 12515 rs104893816 3:30715721-30715721 3:30674229-30674229
13 TGFBR2 NM_003242.6(TGFBR2):c.1397-2A>GSNV Pathogenic 12516 rs587776770 3:30729874-30729874 3:30688382-30688382
14 TGFBR2 NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)SNV Pathogenic 12517 rs104893817 3:30715615-30715615 3:30674123-30674123
15 TGFBR2 NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)SNV Pathogenic 12518 rs104893818 3:30715622-30715622 3:30674130-30674130
16 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)SNV Pathogenic 12519 rs104893819 3:30729962-30729962 3:30688470-30688470
17 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)SNV Pathogenic 180541 rs727504421 3:30732957-30732957 3:30691465-30691465
18 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)SNV Pathogenic 177704 rs727504292 3:30713742-30713742 3:30672250-30672250
19 TGFBR2 NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)SNV Pathogenic 393299 rs1553630457 3:30715723-30715723 3:30674231-30674231
20 TGFBR2 NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)SNV Pathogenic/Likely pathogenic 217016 rs863224935 3:30729887-30729887 3:30688395-30688395
21 TGFBR2 NM_003242.6(TGFBR2):c.94+16293C>ASNV Conflicting interpretations of pathogenicity 213913 rs138262219 3:30664762-30664762 3:30623270-30623270
22 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)SNV Conflicting interpretations of pathogenicity 213934 rs863223852 3:30729968-30729968 3:30688476-30688476
23 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342
24 TGFBR2 NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)SNV Conflicting interpretations of pathogenicity 374980 rs761991787 3:30713690-30713690 3:30672198-30672198
25 TMPO NM_003276.2(TMPO):c.1155G>A (p.Leu385=)SNV Conflicting interpretations of pathogenicity 387392 rs756784841 12:98927190-98927190 12:98533412-98533412
26 TMPO NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys)SNV Conflicting interpretations of pathogenicity 12707 rs17028450 12:98928103-98928103 12:98534325-98534325
27 TMPO NM_003276.2(TMPO):c.2048T>A (p.Val683Glu)SNV Uncertain significance 239534 rs767216575 12:98928083-98928083 12:98534305-98534305
28 TGFBR2 NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)SNV Uncertain significance 263867 rs886038960 3:30713882-30713882 3:30672390-30672390
29 TMPO NM_003276.2(TMPO):c.1235T>C (p.Ile412Thr)SNV Uncertain significance 310767 rs753527126 12:98927270-98927270 12:98533492-98533492
30 TMPO NM_003276.2(TMPO):c.794G>A (p.Gly265Glu)SNV Uncertain significance 310764 rs368211058 12:98926829-98926829 12:98533051-98533051
31 TMPO NM_003276.2(TMPO):c.863T>C (p.Leu288Ser)SNV Uncertain significance 310765 rs886049912 12:98926898-98926898 12:98533120-98533120
32 TGFBR2 NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)SNV Uncertain significance 213946 rs370708687 3:30732933-30732933 3:30691441-30691441
33 TMPO NM_003276.2(TMPO):c.909G>T (p.Met303Ile)SNV Uncertain significance 165468 rs369208265 12:98926944-98926944 12:98533166-98533166
34 TMPO NM_003276.2(TMPO):c.1429G>A (p.Ala477Thr)SNV Uncertain significance 165470 rs34301677 12:98927464-98927464 12:98533686-98533686
35 TMPO NM_003276.2(TMPO):c.248C>T (p.Ala83Val)SNV Uncertain significance 180547 rs730880228 12:98909893-98909893 12:98516115-98516115
36 TMPO NM_003276.2(TMPO):c.1066A>G (p.Lys356Glu)SNV Uncertain significance 180549 rs730880229 12:98927101-98927101 12:98533323-98533323
37 TMPO NM_003276.2(TMPO):c.1405C>G (p.Leu469Val)SNV Uncertain significance 191793 rs373861992 12:98927440-98927440 12:98533662-98533662
38 TMPO NM_003276.2(TMPO):c.497C>A (p.Ser166Tyr)SNV Uncertain significance 202141 rs147012167 12:98925548-98925548 12:98531770-98531770
39 TMPO NM_003276.2(TMPO):c.1198A>G (p.Met400Val)SNV Uncertain significance 202137 rs771185259 12:98927233-98927233 12:98533455-98533455
40 TMPO NM_003276.2(TMPO):c.898C>T (p.His300Tyr)SNV Uncertain significance 469134 rs376074187 12:98926933-98926933 12:98533155-98533155
41 TMPO NM_001032283.2(TMPO):c.565+2284_565+2285delshort repeat Uncertain significance 469129 rs767209319 12:98927898-98927899 12:98534120-98534121
42 TGFBR2 NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)SNV Uncertain significance 403531 rs780542125 3:30713244-30713244 3:30671752-30671752
43 TGFBR2 NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)SNV Uncertain significance 408436 rs755967723 3:30713801-30713801 3:30672309-30672309
44 TMPO NM_003276.2(TMPO):c.1453A>G (p.Ile485Val)SNV Uncertain significance 410624 rs1060502979 12:98927488-98927488 12:98533710-98533710
45 TMPO NM_003276.2(TMPO):c.580C>T (p.His194Tyr)SNV Uncertain significance 410625 rs138259721 12:98926615-98926615 12:98532837-98532837
46 TMPO NM_003276.2(TMPO):c.1829G>A (p.Arg610His)SNV Uncertain significance 410623 rs150445385 12:98927864-98927864 12:98534086-98534086
47 TMPO NM_003276.2(TMPO):c.1156G>A (p.Val386Ile)SNV Uncertain significance 410626 rs1060502980 12:98927191-98927191 12:98533413-98533413
48 TMPO NM_003276.2(TMPO):c.370C>T (p.Leu124Phe)SNV Uncertain significance 427956 rs375619307 12:98921754-98921754 12:98527976-98527976
49 TGFBR2 NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)SNV Uncertain significance 449834 rs1553630171 3:30713588-30713588 3:30672096-30672096
50 TMPO NM_003276.2(TMPO):c.529A>G (p.Ser177Gly)SNV Uncertain significance 449608 rs765922156 12:98925580-98925580 12:98531802-98531802

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 2:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Leu308Pro VAR_022351 rs28934568
2 TGFBR2 p.Tyr336Asn VAR_022352 rs104893812
3 TGFBR2 p.Ala355Pro VAR_022353 rs104893813
4 TGFBR2 p.Gly357Trp VAR_022354 rs104893814
5 TGFBR2 p.Ser449Phe VAR_022358 rs104893807
6 TGFBR2 p.Arg528Cys VAR_022360 rs104893810
7 TGFBR2 p.Arg528His VAR_022361 rs104893815
8 TGFBR2 p.Arg537Cys VAR_022362 rs104893809
9 TGFBR2 p.Arg460Cys VAR_029760 rs104893811
10 TGFBR2 p.Arg460His VAR_029761 rs104893816
11 TGFBR2 p.His377Arg VAR_066724 rs155363027
12 TGFBR2 p.Asp446Asn VAR_066725 rs886039551
13 TGFBR2 p.Met457Lys VAR_066726
14 TGFBR2 p.Gly509Val VAR_066727 rs863223853
15 TGFBR2 p.Ile510Phe VAR_066728
16 TGFBR2 p.Ile510Ser VAR_066729
17 TGFBR2 p.Cys514Arg VAR_066730 rs193922664
18 TGFBR2 p.Trp521Arg VAR_066731
19 TGFBR2 p.Arg190His VAR_076167 rs780542125
20 TGFBR2 p.Asp247Val VAR_076168 rs761231369
21 TGFBR2 p.Thr325Pro VAR_076169
22 TGFBR2 p.Gly357Arg VAR_076170
23 TGFBR2 p.Thr530Ile VAR_076171

Expression for Loeys-Dietz Syndrome 2

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 2.

Pathways for Loeys-Dietz Syndrome 2

GO Terms for Loeys-Dietz Syndrome 2

Biological processes related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zymogen activation GO:0031638 9.37 GGT2 GGT1
2 glutathione biosynthetic process GO:0006750 9.32 GGT1 GGCT
3 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
4 peptide modification GO:0031179 9.16 GGT2 GGT1
5 leukotriene D4 biosynthetic process GO:1901750 9.13 GGTLC3 GGT2 GGT1
6 glutathione catabolic process GO:0006751 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Loeys-Dietz Syndrome 2

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