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LDS2
MCID: LYS018
MIFTS: 51

Loeys-Dietz Syndrome 2 (LDS2)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Loeys-Dietz Syndrome 2

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Loeys-Dietz Syndrome 2

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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 bile duct rhabdomyosarcoma. 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 global developmental delay

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
Sources

Related Diseases for Loeys-Dietz Syndrome 2

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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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 27.6 TTC3 TMPO-AS1 TMPO TGFBR2 TAAR9 SUGCT
2 bile duct rhabdomyosarcoma 10.3 GGTLC3 GGT2 GGT1
3 splenic tuberculosis 10.3 GGTLC3 GGT2 GGT1
4 perforation of bile duct 10.3 GGTLC3 GGT2 GGT1
5 gallbladder papillary carcinoma 10.3 GGTLC3 GGT2 GGT1
6 immature teratoma of ovary 10.3 GGTLC3 GGT2 GGT1
7 optic nerve astrocytoma 10.3 GGTLC3 GGT2 GGT1
8 myasthenic syndrome, congenital, 3b, fast-channel 10.3 GGTLC3 GGT2 GGT1
9 suppurative cholangitis 10.3 GGTLC3 GGT2 GGT1
10 viral laryngitis 10.3 GGTLC3 GGT2 GGT1
11 acute cholangitis 10.3 GGTLC3 GGT2 GGT1
12 algoneurodystrophy 10.3 GGTLC3 GGT2 GGT1
13 bile duct cysts 10.3 GGTLC3 GGT2 GGT1
14 glutathionuria 10.3 GGTLC3 GGT2 GGT1
15 bile acid synthesis defect, congenital, 1 10.3 GGTLC3 GGT2 GGT1
16 common bile duct disease 10.3 GGTLC3 GGT2 GGT1
17 familial adenomatous polyposis 2 10.3 GGTLC3 GGT2 GGT1
18 esophageal varix 10.3 GGTLC3 GGT2 GGT1
19 kunjin encephalitis 10.2 SRSF7 GGCT
20 choledocholithiasis 10.2 GGTLC3 GGT2 GGT1
21 aortic dissection 10.2
22 aneurysm 10.2
23 hepatic vascular disease 10.2 GGTLC3 GGT2 GGT1
24 vein disease 10.2 SERPINA3 GGTLC3 GGT2 GGT1
25 cholestasis, progressive familial intrahepatic, 1 10.2 GGTLC3 GGT2 GGT1
26 noonan syndrome 8 10.2 SUGCT GGTLC3 GGT2 GGT1
27 bilirubin metabolic disorder 10.2 GGTLC3 GGT2 GGT1
28 bile duct disease 10.1 SERPINA3 GGTLC3 GGT2 GGT1
29 lipid storage disease 10.1 SERPINA3 GGTLC3 GGT2 GGT1
30 gallbladder disease 10.1 SERPINA3 GGTLC3 GGT2 GGT1
31 biliary tract disease 10.1 SERPINA3 GGTLC3 GGT2 GGT1
32 cholangitis, primary sclerosing 10.1 GGTLC3 GGT2 GGT1
33 alcohol use disorder 10.0 GGTLC3 GGT2 GGT1
34 dientamoebiasis 10.0 GGTLC3 GGT2 GGT1 GGCT CAGE1
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 SERPINA3 GGT1 GGCT
36 opisthorchiasis 10.0 SERPINA3 GGT1
37 stickler syndrome, type i 9.9
38 cleft palate, isolated 9.9
39 marfan syndrome 9.9
40 orthostatic intolerance 9.9
41 stickler syndrome 9.9
42 mitral valve insufficiency 9.9
43 connective tissue disease 9.9
44 eye disease 9.9 SERPINA3 GGTLC3 GGT2 GGT1 GGCT
45 amelogenesis imperfecta, type if 9.8 GGTLC3 GGT2 GGT1 GGCT GGA3 CAGE1
46 giant axonal neuropathy 1, autosomal recessive 9.8 SLC6A13 SLC6A11 GGTLC3 GGT2 GGT1
47 contractural arachnodactyly, congenital 9.6 SUGCT SERPINA3 GGTLC3 GGT2 GGT1 GGCT
48 cataract 34, multiple types 8.9 TTC3 SUGCT SRSF7 SNORA3A SERPINA3 GGTLC3
49 lens disease 8.5 TTC3 SUGCT SRSF7 SNORA3A SLC7A3 SERPINA3
50 distal arthrogryposis 7.8 TTC3 TAAR9 SUGCT SRSF7 SNORA3A SLC7A3

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



Diseases related to Loeys-Dietz Syndrome 2
Sources

Symptoms & Phenotypes for Loeys-Dietz Syndrome 2

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Human phenotypes related to Loeys-Dietz Syndrome 2:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
retrognathia
micrognathia

Skeletal Feet:
talipes equinovarus

Cardiovascular Vascular:
ascending aortic dissection
patent ductus arteriosus
pulmonary artery aneurysm
ascending aortic aneurysm
arterial tortuosity, generalized
more
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

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

Skeletal Hands:
arachnodactyly
brachydactyly
camptodactyly
contractures
postaxial polydactyly (rare)
more
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 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.64 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.64 TGFBR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.64 TGFBR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.64 GGT2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.64 GGT1 GGT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.64 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.64 TGFBR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.64 TGFBR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.64 TGFBR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.64 GGT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.64 GGT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.64 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.64 GGT2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.64 TGFBR2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.64 TGFBR2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.64 GGT1 GGT2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.64 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.64 TGFBR2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.64 TGFBR2
Sources

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

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

Sources

Genetic Tests for Loeys-Dietz Syndrome 2

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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
Sources

Anatomical Context for Loeys-Dietz Syndrome 2

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

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

Publications for Loeys-Dietz Syndrome 2

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Articles related to Loeys-Dietz Syndrome 2:

(show all 41)
# Title Authors PMID Year
1
Heterozygous TGFBR2 mutations in Marfan syndrome. 6 56 61
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. 6 56
16928994 2006
4
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 56 6
16251899 2006
5
Molecular pathology of Shprintzen-Goldberg syndrome. 56 6
16333834 2006
6
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 6 56
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. 6 56
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
Sources

Variations for Loeys-Dietz Syndrome 2

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)SNV Pathogenic 393299 rs1553630457 3:30715723-30715723 3:30674231-30674231
2 TGFBR2 NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)SNV Pathogenic 12504 rs121918715 3:30730003-30730003 3:30688511-30688511
3 TGFBR2 NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)SNV Pathogenic 12505 rs28934568 3:30713598-30713598 3:30672106-30672106
4 TGFBR2 NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)SNV Pathogenic 12506 rs104893807 3:30715688-30715688 3:30674196-30674196
5 TGFBR2 NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)SNV Pathogenic 12507 rs104893809 3:30732996-30732996 3:30691504-30691504
6 TGFBR2 NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)SNV Pathogenic 12508 rs104893812 3:30713681-30713681 3:30672189-30672189
7 TGFBR2 NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)SNV Pathogenic 12509 rs104893813 3:30713738-30713738 3:30672246-30672246
8 TGFBR2 NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)SNV Pathogenic 12510 rs104893814 3:30713744-30713744 3:30672252-30672252
9 TGFBR2 NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)SNV Pathogenic 12511 rs104893815 3:30732970-30732970 3:30691478-30691478
10 TGFBR2 NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)SNV Pathogenic 12512 rs104893810 3:30732969-30732969 3:30691477-30691477
11 TGFBR2 NM_003242.6(TGFBR2):c.95-2A>GSNV Pathogenic 12513 3:30686237-30686237 3:30644745-30644745
12 TGFBR2 NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)SNV Pathogenic 12514 rs104893811 3:30715720-30715720 3:30674228-30674228
13 TGFBR2 NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)SNV Pathogenic 12515 rs104893816 3:30715721-30715721 3:30674229-30674229
14 TGFBR2 NM_003242.6(TGFBR2):c.1397-2A>GSNV Pathogenic 12516 rs587776770 3:30729874-30729874 3:30688382-30688382
15 TGFBR2 NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)SNV Pathogenic 12517 rs104893817 3:30715615-30715615 3:30674123-30674123
16 TGFBR2 NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)SNV Pathogenic 12518 rs104893818 3:30715622-30715622 3:30674130-30674130
17 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)SNV Pathogenic 12519 rs104893819 3:30729962-30729962 3:30688470-30688470
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.1570G>A (p.Asp524Asn)SNV Pathogenic 180541 rs727504421 3:30732957-30732957 3:30691465-30691465
20 TGFBR2 NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)SNV Pathogenic/Likely pathogenic 217016 rs863224935 3:30729887-30729887 3:30688395-30688395
21 TMPO NM_001032283.3(TMPO):c.565+2149C>TSNV Conflicting interpretations of pathogenicity 229322 rs34150443 12:98927765-98927765 12:98533987-98533987
22 TGFBR2 NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)SNV Conflicting interpretations of pathogenicity 239533 rs878854612 3:30648444-30648444 3:30606952-30606952
23 TGFBR2 NM_003242.6(TGFBR2):c.1254+8A>GSNV Conflicting interpretations of pathogenicity 259011 rs200630803 3:30713937-30713937 3:30672445-30672445
24 TMPO NM_003276.2(TMPO):c.557A>G (p.Asn186Ser)SNV Conflicting interpretations of pathogenicity 191789 rs200923649 12:98925608-98925608 12:98531830-98531830
25 TMPO NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu)SNV Conflicting interpretations of pathogenicity 192133 rs141443652 12:98927312-98927312 12:98533534-98533534
26 TGFBR2 NM_003242.6(TGFBR2):c.94+16293C>ASNV Conflicting interpretations of pathogenicity 213913 rs138262219 3:30664762-30664762 3:30623270-30623270
27 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)SNV Conflicting interpretations of pathogenicity 213934 rs863223852 3:30729968-30729968 3:30688476-30688476
28 TGFBR2 NM_003242.6(TGFBR2):c.*443A>GSNV Conflicting interpretations of pathogenicity 344675 rs188599299 3:30733534-30733534 3:30692042-30692042
29 TMPO NM_001032283.3(TMPO):c.565+1641A>GSNV Conflicting interpretations of pathogenicity 178142 rs143232629 12:98927257-98927257 12:98533479-98533479
30 TMPO NM_001032283.3(TMPO):c.252G>T (p.Ala84=)SNV Conflicting interpretations of pathogenicity 179138 rs727504659 12:98909897-98909897 12:98516119-98516119
31 TMPO NM_001032283.3(TMPO):c.565+1728G>CSNV Conflicting interpretations of pathogenicity 178143 rs145703021 12:98927344-98927344 12:98533566-98533566
32 TMPO NM_001032283.3(TMPO):c.565+1105C>TSNV Conflicting interpretations of pathogenicity 178141 rs138790561 12:98926721-98926721 12:98532943-98532943
33 TGFBR2 NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)SNV Conflicting interpretations of pathogenicity 12502 rs34833812 3:30713619-30713619 3:30672127-30672127
34 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)SNV Conflicting interpretations of pathogenicity 161394 rs112215250 3:30733044-30733044 3:30691552-30691552
35 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342
36 TMPO NM_001032283.3(TMPO):c.565+2376C>TSNV Conflicting interpretations of pathogenicity 44670 rs202035749 12:98927992-98927992 12:98534214-98534214
37 TMPO NM_001032283.3(TMPO):c.396T>A (p.Gly132=)SNV Conflicting interpretations of pathogenicity 44671 rs397516844 12:98921780-98921780 12:98528002-98528002
38 TMPO NM_001032283.3(TMPO):c.565+2487C>TSNV Conflicting interpretations of pathogenicity 12707 rs17028450 12:98928103-98928103 12:98534325-98534325
39 TGFBR2 NM_003242.6(TGFBR2):c.*859G>ASNV Conflicting interpretations of pathogenicity 344687 rs548242538 3:30733950-30733950 3:30692458-30692458
40 TGFBR2 NM_003242.6(TGFBR2):c.*2066G>ASNV Conflicting interpretations of pathogenicity 344712 rs566913021 3:30735157-30735157 3:30693665-30693665
41 TGFBR2 NM_003242.6(TGFBR2):c.*352A>GSNV Conflicting interpretations of pathogenicity 344674 rs565524213 3:30733443-30733443 3:30691951-30691951
42 TGFBR2 NM_003242.6(TGFBR2):c.*988C>TSNV Conflicting interpretations of pathogenicity 344688 rs138036906 3:30734079-30734079 3:30692587-30692587
43 TMPO NM_003276.2(TMPO):c.81G>T (p.Leu27=)SNV Conflicting interpretations of pathogenicity 310760 rs549257131 12:98909726-98909726 12:98515948-98515948
44 TGFBR2 NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)SNV Conflicting interpretations of pathogenicity 374980 rs761991787 3:30713690-30713690 3:30672198-30672198
45 TMPO NM_003276.2(TMPO):c.1155G>A (p.Leu385=)SNV Conflicting interpretations of pathogenicity 387392 rs756784841 12:98927190-98927190 12:98533412-98533412
46 TMPO NM_003276.2(TMPO):c.1235T>C (p.Ile412Thr)SNV Uncertain significance 310767 rs753527126 12:98927270-98927270 12:98533492-98533492
47 TMPO NM_003276.2(TMPO):c.794G>A (p.Gly265Glu)SNV Uncertain significance 310764 rs368211058 12:98926829-98926829 12:98533051-98533051
48 TMPO NM_003276.2(TMPO):c.863T>C (p.Leu288Ser)SNV Uncertain significance 310765 rs886049912 12:98926898-98926898 12:98533120-98533120
49 TGFBR2 NM_001024847.2(TGFBR2):c.-371A>CSNV Uncertain significance 344646 rs886058297 3:30648005-30648005 3:30606513-30606513
50 TGFBR2 NM_003242.6(TGFBR2):c.-249T>GSNV Uncertain significance 344650 rs886058299 3:30648127-30648127 3:30606635-30606635

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

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Expression for Loeys-Dietz Syndrome 2

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

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

# Super pathways Score Top Affiliating Genes
1
Glutathione metabolism 1 22 36
Show member pathways
 11.57 GSTA3 GGT2 GGT1 GGCT
2
NRF2 pathway 1
11.26 TGFBR2 SLC6A13 SLC6A11 GSTA3 GGT2 GGT1
3
Eicosanoid Synthesis 1
10.7 GGT2 GGT1
4
Aflatoxin activation and detoxification 65
10.62 GGT2 GGT1
5
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.41 SLC6A13 SLC6A11
Sources

GO Terms for Loeys-Dietz Syndrome 2

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Cellular components related to Loeys-Dietz Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 SRSF7 SLC6A13 SERPINA3 GSTA3 GGTLC3 GGT2

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 9.4 GGT2 GGT1
2 glutathione biosynthetic process GO:0006750 9.37 GGT1 GGCT
3 regulation of immune system process GO:0002682 9.32 GGT2 GGT1
4 gamma-aminobutyric acid transport GO:0015812 9.26 SLC6A13 SLC6A11
5 peptide modification GO:0031179 9.16 GGT2 GGT1
6 glutathione catabolic process GO:0006751 9.13 GGTLC3 GGT2 GGT1
7 leukotriene D4 biosynthetic process GO:1901750 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 neurotransmitter:sodium symporter activity GO:0005328 9.32 SLC6A13 SLC6A11
2 neurotransmitter binding GO:0042165 9.26 SLC6A13 SLC6A11
3 gamma-aminobutyric acid:sodium symporter activity GO:0005332 9.16 SLC6A13 SLC6A11
4 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
5 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1
Sources

Sources for Loeys-Dietz Syndrome 2

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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