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LDS2
MCID: LYS018
MIFTS: 44

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 Symptoms & Phenotypes
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Aliases & Classifications for Loeys-Dietz Syndrome 2

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MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 58 12 54 76 30 6 15
Marfan Syndrome Type 2 60 76 30 74
Lds2 58 12 76
Aat3 58 12 76
Aortic Aneurysm, Familial Thoracic 3 58 74
Loeys-Dietz Syndrome Type 2 54 74
Marfan Syndrome Type Ii 12 77
Mfs2 60 76
Aortic Aneurysm, Familial Thoracic 3; Aat3 58
Thoracic Aortic Aneurysms and Dissection 2 76
Familial Aortic Aneurysm Thoracic Type 3 76
Familial Throacic Aortic Aneurysm 3 12
Marfan Syndrome, Type Ii, Formerly 58
Syndrome, Loeys-Dietz, Type 2 41
Taad2 76

Characteristics:

Orphanet epidemiological data:

60
marfan syndrome type 2
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
loeys-dietz syndrome 2:
Inheritance heterogeneous autosomal dominant inheritance


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: 35
Orphanet: 60  
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 : 76 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 subclavian artery aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2). Affiliated tissues include skin, brain and spleen, and related phenotypes are hydrocephalus and intellectual disability

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

Wikipedia : 77 Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features... more...

Description from OMIM: 610168
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:

# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.8 MYH11 TGFBR2 TMPO
2 subclavian artery aneurysm 9.9 MYH11 TGFBR2
3 loeys-dietz syndrome 3 9.9 MYH11 TGFBR2
4 marfan syndrome 9.9
5 aortic aneurysm, familial thoracic 1 9.9 MYH11 TGFBR2
6 aortic aneurysm 9.8 MYH11 TGFBR2
7 aortic disease 9.7 MYH11 TGFBR2
8 loeys-dietz syndrome 1 9.6 GPT2 MYH11 TGFBR2

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

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

Skeletal Hands:
arachnodactyly
brachydactyly
camptodactyly
contractures
postaxial polydactyly (rare)
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

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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.7 TGFBR2
2 Decreased viability GR00221-A-1 9.7 TGFBR2 TRIO ULK1
3 Decreased viability GR00221-A-2 9.7 TRIO
4 Decreased viability GR00221-A-3 9.7 TGFBR2
5 Decreased viability GR00221-A-4 9.7 TGFBR2 TRIO ULK1
6 Decreased viability GR00402-S-2 9.7 TGFBR2 TRIO ULK1
7 Decreased vesicular stomatitis virus (VSV) infection GR00356-A-1 8.96 TRIO ULK1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 GPT2 MYH11 TGFBR2 TMPO TRIO ULK1
Sources

Drugs & Therapeutics for Loeys-Dietz Syndrome 2

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

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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 30 TGFBR2
2 Marfan Syndrome Type 2 30
Sources

Anatomical Context for Loeys-Dietz Syndrome 2

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

42
Skin, Brain, Spleen, Uterus, Bone, Eye, Colon
Sources

Publications for Loeys-Dietz Syndrome 2

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Articles related to Loeys-Dietz Syndrome 2:

(show all 17)
# Title Authors Year
1
Extreme phenotypes of Loeys Dietz syndrome. ( 28225382 )
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 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
5
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. ( 20358619 )
2010
6
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. ( 16799921 )
2006
7
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. ( 16251899 )
2006
8
Molecular pathology of Shprintzen-Goldberg syndrome. ( 16333834 )
2006
9
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. ( 16885183 )
2006
10
Aneurysm syndromes caused by mutations in the TGF-beta receptor. ( 16928994 )
2006
11
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. ( 16027248 )
2005
12
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. ( 15731757 )
2005
13
Heterozygous TGFBR2 mutations in Marfan syndrome. ( 15235604 )
2004
14
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. ( 12821554 )
2003
15
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. ( 9927040 )
1999
16
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. ( 8946175 )
1996
17
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. ( 8317497 )
1993
Sources

Variations for Loeys-Dietz Syndrome 2

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

76 (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
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

ClinVar genetic disease variations for Loeys-Dietz Syndrome 2:

6 (show top 50) (show all 189)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu) single nucleotide variant Pathogenic rs104893818 GRCh38 Chromosome 3, 30674130: 30674130
2 TGFBR2 NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu) single nucleotide variant Pathogenic rs104893818 GRCh37 Chromosome 3, 30715622: 30715622
3 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh37 Chromosome 3, 30730003: 30730003
4 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh38 Chromosome 3, 30688511: 30688511
5 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh37 Chromosome 3, 30713598: 30713598
6 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh38 Chromosome 3, 30672106: 30672106
7 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh37 Chromosome 3, 30715688: 30715688
8 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh38 Chromosome 3, 30674196: 30674196
9 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh37 Chromosome 3, 30732996: 30732996
10 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh38 Chromosome 3, 30691504: 30691504
11 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh37 Chromosome 3, 30713681: 30713681
12 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh38 Chromosome 3, 30672189: 30672189
13 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh37 Chromosome 3, 30713738: 30713738
14 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh38 Chromosome 3, 30672246: 30672246
15 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh37 Chromosome 3, 30713744: 30713744
16 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh38 Chromosome 3, 30672252: 30672252
17 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
18 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
19 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh37 Chromosome 3, 30732969: 30732969
20 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh38 Chromosome 3, 30691477: 30691477
21 TGFBR2 TGFBR2, IVS1, A-G, -2 single nucleotide variant Pathogenic
22 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh37 Chromosome 3, 30715720: 30715720
23 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh38 Chromosome 3, 30674228: 30674228
24 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh37 Chromosome 3, 30715721: 30715721
25 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh38 Chromosome 3, 30674229: 30674229
26 TGFBR2 NM_001024847.2(TGFBR2): c.1472-2A> G single nucleotide variant Pathogenic rs587776770 GRCh37 Chromosome 3, 30729874: 30729874
27 TGFBR2 NM_001024847.2(TGFBR2): c.1472-2A> G single nucleotide variant Pathogenic rs587776770 GRCh38 Chromosome 3, 30688382: 30688382
28 TGFBR2 NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val) single nucleotide variant Pathogenic rs104893817 GRCh37 Chromosome 3, 30715615: 30715615
29 TGFBR2 NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val) single nucleotide variant Pathogenic rs104893817 GRCh38 Chromosome 3, 30674123: 30674123
30 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
31 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh38 Chromosome 3, 30688470: 30688470
32 TMPO NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17028450 GRCh37 Chromosome 12, 98928103: 98928103
33 TMPO NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17028450 GRCh38 Chromosome 12, 98534325: 98534325
34 TMPO NM_003276.2(TMPO): c.1434G> C (p.Lys478Asn) single nucleotide variant Benign/Likely benign rs35761089 GRCh37 Chromosome 12, 98927469: 98927469
35 TMPO NM_003276.2(TMPO): c.1434G> C (p.Lys478Asn) single nucleotide variant Benign/Likely benign rs35761089 GRCh38 Chromosome 12, 98533691: 98533691
36 TMPO NM_003276.2(TMPO): c.713T> G (p.Leu238Arg) single nucleotide variant Benign/Likely benign rs35998138 GRCh37 Chromosome 12, 98926748: 98926748
37 TMPO NM_003276.2(TMPO): c.713T> G (p.Leu238Arg) single nucleotide variant Benign/Likely benign rs35998138 GRCh38 Chromosome 12, 98532970: 98532970
38 TMPO NM_003276.2(TMPO): c.877T> G (p.Ser293Ala) single nucleotide variant Benign/Likely benign rs35645287 GRCh37 Chromosome 12, 98926912: 98926912
39 TMPO NM_003276.2(TMPO): c.877T> G (p.Ser293Ala) single nucleotide variant Benign/Likely benign rs35645287 GRCh38 Chromosome 12, 98533134: 98533134
40 TMPO NM_003276.2(TMPO): c.950C> G (p.Thr317Ser) single nucleotide variant Benign/Likely benign rs35969221 GRCh37 Chromosome 12, 98926985: 98926985
41 TMPO NM_003276.2(TMPO): c.950C> G (p.Thr317Ser) single nucleotide variant Benign/Likely benign rs35969221 GRCh38 Chromosome 12, 98533207: 98533207
42 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh37 Chromosome 3, 30713834: 30713834
43 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh38 Chromosome 3, 30672342: 30672342
44 TMPO NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu) single nucleotide variant Benign/Likely benign rs11838270 GRCh37 Chromosome 12, 98927281: 98927281
45 TMPO NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu) single nucleotide variant Benign/Likely benign rs11838270 GRCh38 Chromosome 12, 98533503: 98533503
46 TMPO NM_003276.2(TMPO): c.1471T> G (p.Ser491Ala) single nucleotide variant Benign/Likely benign rs80325832 GRCh37 Chromosome 12, 98927506: 98927506
47 TMPO NM_003276.2(TMPO): c.1471T> G (p.Ser491Ala) single nucleotide variant Benign/Likely benign rs80325832 GRCh38 Chromosome 12, 98533728: 98533728
48 TMPO NM_003276.2(TMPO): c.1632T> A (p.Ile544=) single nucleotide variant Benign/Likely benign rs12316677 GRCh37 Chromosome 12, 98927667: 98927667
49 TMPO NM_003276.2(TMPO): c.1632T> A (p.Ile544=) single nucleotide variant Benign/Likely benign rs12316677 GRCh38 Chromosome 12, 98533889: 98533889
50 TMPO NM_003276.2(TMPO): c.1957C> T (p.Leu653Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs202035749 GRCh37 Chromosome 12, 98927992: 98927992
Sources

Expression for Loeys-Dietz Syndrome 2

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

Pathways for Loeys-Dietz Syndrome 2

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Sources

GO Terms for Loeys-Dietz Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.33 TGFBR2 TRIO ULK1
2 peptidyl-serine phosphorylation GO:0018105 9.26 TGFBR2 ULK1
3 protein phosphorylation GO:0006468 9.13 TGFBR2 TRIO ULK1
4 peptidyl-threonine phosphorylation GO:0018107 8.62 TGFBR2 ULK1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 GPT2 TGFBR2 TRIO ULK1
2 kinase activity GO:0016301 9.5 TGFBR2 TRIO ULK1
3 protein kinase activity GO:0004672 9.33 TGFBR2 TRIO ULK1
4 ATP binding GO:0005524 9.26 MYH11 TGFBR2 TRIO ULK1
5 protein serine/threonine kinase activity GO:0004674 8.8 TGFBR2 TRIO ULK1
Sources

Sources for Loeys-Dietz Syndrome 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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