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LDS2
MCID: LYS018
MIFTS: 46

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
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 57 12 53 74 29 6 15
Marfan Syndrome Type 2 59 74 29 72
Lds2 57 12 74
Aat3 57 12 74
Aortic Aneurysm, Familial Thoracic 3 57 72
Loeys-Dietz Syndrome Type 2 53 72
Marfan Syndrome Type Ii 12 75
Mfs2 59 74
Aortic Aneurysm, Familial Thoracic 3; Aat3 57
Thoracic Aortic Aneurysms and Dissection 2 74
Familial Aortic Aneurysm Thoracic Type 3 74
Familial Throacic Aortic Aneurysm 3 12
Marfan Syndrome, Type Ii, Formerly 57
Syndrome, Loeys-Dietz, Type 2 40
Taad2 74

Characteristics:

Orphanet epidemiological data:

59
marfan syndrome type 2
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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: 34
Orphanet: 59  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070234
MeSH 44 D055947
ICD10 via Orphanet 34 Q87.4
UMLS via Orphanet 73 C2931058
Orphanet 59 ORPHA284973
UMLS 72 C2674574 C2931058 C3898580
Sources

Summaries for Loeys-Dietz Syndrome 2

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UniProtKB/Swiss-Prot : 74 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 aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2). Affiliated tissues include skin, brain and uterus, 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 : 75 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 all 13)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 31.2 TMPO TGFBR2 MYH11
2 aneurysm 10.2
3 cleft palate, isolated 9.9
4 marfan syndrome 9.9
5 orthostatic intolerance 9.9
6 mitral valve insufficiency 9.9
7 connective tissue disease 9.9
8 subclavian artery aneurysm 9.9 TGFBR2 MYH11
9 loeys-dietz syndrome 3 9.8 TGFBR2 MYH11
10 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 MYH11
11 aortic aneurysm 9.7 TGFBR2 MYH11
12 aortic disease 9.5 TGFBR2 MYH11
13 loeys-dietz syndrome 1 9.4 TGFBR2 MYH11 GPT2

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:
brachydactyly
arachnodactyly
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:

26
# 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:

46
# 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

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:

41
Skin, Brain, Uterus, Spleen, Bone, Eye, Colon
Sources

Publications for Loeys-Dietz Syndrome 2

About this section

Articles related to Loeys-Dietz Syndrome 2:

(show all 41)
# Title Authors PMID Year
1
Heterozygous TGFBR2 mutations in Marfan syndrome. 38 8 71
15235604 2004
2
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 8 71
20358619 2010
3
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 8 71
16928994 2006
4
Molecular pathology of Shprintzen-Goldberg syndrome. 8 71
16333834 2006
5
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 8 71
16251899 2006
6
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 8 71
16027248 2005
7
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 8 71
15731757 2005
8
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. 8 71
12821554 2003
9
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. 8 71
8317497 1993
10
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. 38 8
8946175 1996
11
Extreme phenotypes of Loeys Dietz syndrome. 71
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. 71
27854360 2017
13
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 8
27879313 2016
14
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
15
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. 8
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). 71
25173340 2014
17
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 71
24882528 2014
18
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. 8
24194458 2014
19
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
20
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 8
19996017 2009
21
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 8
19542084 2009
22
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 8
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. 71
18781618 2008
24
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. 8
18978651 2008
25
Loeys-Dietz Syndrome 71
20301312 2008
26
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 71
16885183 2006
27
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 71
16799921 2006
28
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. 8
12975342 2003
29
Transforming growth factor beta in cardiovascular development and function. 8
12948523 2003
30
Heritable Thoracic Aortic Disease Overview 71
20301299 2003
31
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 71
9927040 1999
32
TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. 8
9217007 1997
33
The question of heterogeneity in Marfan syndrome. 8
7773282 1995
34
Reply to "The question of heterogeneity in Marfan syndrome" 8
21836810 1995
35
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. 8
7632217 1994
36
Marfan syndrome or Marfan-like connective-tissue disorder. 8
8116625 1994
37
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. 8
1969488 1990
38
The neuromuscular differential diagnosis of joint hypermobility. 38
25821091 2015
39
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. 38
21567932 2011
40
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 38
21098638 2010
41
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 38
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 109)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2): c.1381T> C (p.Cys461Arg) single nucleotide variant Pathogenic rs1553630457 3:30715723-30715723 3:30674231-30674231
2 TGFBR2 NM_003242.6(TGFBR2): c.1280C> T (p.Pro427Leu) single nucleotide variant Pathogenic rs104893818 3:30715622-30715622 3:30674130-30674130
3 TGFBR2 NM_003242.6(TGFBR2): c.1397-2A> G single nucleotide variant Pathogenic rs587776770 3:30729874-30729874 3:30688382-30688382
4 TGFBR2 NM_003242.6(TGFBR2): c.1273A> G (p.Met425Val) single nucleotide variant Pathogenic rs104893817 3:30715615-30715615 3:30674123-30674123
5 TGFBR2 NM_003242.6(TGFBR2): c.1524G> A (p.Gln508=) single nucleotide variant Pathogenic rs121918715 3:30730003-30730003 3:30688511-30688511
6 TGFBR2 NM_003242.6(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 3:30713598-30713598 3:30672106-30672106
7 TGFBR2 NM_003242.6(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 3:30715688-30715688 3:30674196-30674196
8 TGFBR2 NM_003242.6(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 3:30732996-30732996 3:30691504-30691504
9 TGFBR2 NM_003242.6(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 3:30713681-30713681 3:30672189-30672189
10 TGFBR2 NM_003242.6(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 3:30713738-30713738 3:30672246-30672246
11 TGFBR2 NM_003242.6(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 3:30713744-30713744 3:30672252-30672252
12 TGFBR2 NM_003242.6(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 3:30732970-30732970 3:30691478-30691478
13 TGFBR2 NM_003242.6(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 3:30732969-30732969 3:30691477-30691477
14 TGFBR2 TGFBR2, IVS1, A-G, -2 single nucleotide variant Pathogenic
15 TGFBR2 NM_003242.6(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 3:30715720-30715720 3:30674228-30674228
16 TGFBR2 NM_003242.6(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 3:30715721-30715721 3:30674229-30674229
17 TGFBR2 NM_003242.6(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 3:30729962-30729962 3:30688470-30688470
18 TGFBR2 NM_003242.6(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 3:30713742-30713742 3:30672250-30672250
19 TGFBR2 NM_003242.6(TGFBR2): c.1408T> G (p.Tyr470Asp) single nucleotide variant Pathogenic/Likely pathogenic rs863224935 3:30729887-30729887 3:30688395-30688395
20 TMPO NM_003276.2(TMPO): c.1730C> T (p.Ala577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34150443 12:98927765-98927765 12:98533987-98533987
21 TMPO NM_003276.2(TMPO): c.813C> T (p.Ala271=) single nucleotide variant Conflicting interpretations of pathogenicity rs369897433 12:98926848-98926848 12:98533070-98533070
22 TGFBR2 NM_003242.6(TGFBR2): c.1489C> T (p.Arg497Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs863223852 3:30729968-30729968 3:30688476-30688476
23 TMPO NM_003276.2(TMPO): c.1155G> A (p.Leu385=) single nucleotide variant Conflicting interpretations of pathogenicity rs756784841 12:98927190-98927190 12:98533412-98533412
24 TMPO NM_003276.2(TMPO): c.1309G> C (p.Val437Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145703021 12:98927344-98927344 12:98533566-98533566
25 TMPO NM_003276.2(TMPO): c.1957C> T (p.Leu653Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs202035749 12:98927992-98927992 12:98534214-98534214
26 TMPO NM_003276.2(TMPO): c.396T> A (p.Gly132=) single nucleotide variant Conflicting interpretations of pathogenicity rs397516844 12:98921780-98921780 12:98528002-98528002
27 TMPO NM_003276.2(TMPO): c.686C> T (p.Thr229Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138790561 12:98926721-98926721 12:98532943-98532943
28 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 12:98927312-98927312 12:98533534-98533534
29 TGFBR2 NM_003242.6(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 3:30713834-30713834 3:30672342-30672342
30 TMPO NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17028450 12:98928103-98928103 12:98534325-98534325
31 TGFBR2 NM_003242.6(TGFBR2): c.1015C> T (p.Arg339Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs761991787 3:30713690-30713690 3:30672198-30672198
32 TMPO NM_003276.2(TMPO): c.1968G> A (p.Lys656=) single nucleotide variant Conflicting interpretations of pathogenicity rs201034441 12:98928003-98928003 12:98534225-98534225
33 TMPO NM_003276.2(TMPO): c.117G> C (p.Gln39His) single nucleotide variant Uncertain significance rs1285673694 12:98909762-98909762 12:98515984-98515984
34 TMPO NM_003276.2(TMPO): c.1156G> A (p.Val386Ile) single nucleotide variant Uncertain significance rs1060502980 12:98927191-98927191 12:98533413-98533413
35 TMPO NM_003276.2(TMPO): c.370C> T (p.Leu124Phe) single nucleotide variant Uncertain significance rs375619307 12:98921754-98921754 12:98527976-98527976
36 TGFBR2 NM_003242.6(TGFBR2): c.913C> T (p.Leu305Phe) single nucleotide variant Uncertain significance rs1553630171 3:30713588-30713588 3:30672096-30672096
37 TMPO NM_003276.2(TMPO): c.529A> G (p.Ser177Gly) single nucleotide variant Uncertain significance rs765922156 12:98925580-98925580 12:98531802-98531802
38 TMPO NM_003276.2(TMPO): c.1882A> G (p.Ile628Val) single nucleotide variant Uncertain significance rs765153747 12:98927917-98927917 12:98534139-98534139
39 TMPO NM_003276.2(TMPO): c.955A> C (p.Thr319Pro) single nucleotide variant Uncertain significance rs760685984 12:98926990-98926990 12:98533212-98533212
40 TMPO NM_003276.2(TMPO): c.1355C> G (p.Pro452Arg) single nucleotide variant Uncertain significance rs762576951 12:98927390-98927390 12:98533612-98533612
41 TMPO NM_003276.2(TMPO): c.580C> T (p.His194Tyr) single nucleotide variant Uncertain significance rs138259721 12:98926615-98926615 12:98532837-98532837
42 TMPO NM_003276.2(TMPO): c.1829G> A (p.Arg610His) single nucleotide variant Uncertain significance rs150445385 12:98927864-98927864 12:98534086-98534086
43 TGFBR2 NM_003242.6(TGFBR2): c.569G> A (p.Arg190His) single nucleotide variant Uncertain significance rs780542125 3:30713244-30713244 3:30671752-30671752
44 TGFBR2 NM_003242.6(TGFBR2): c.1126G> A (p.Val376Met) single nucleotide variant Uncertain significance rs755967723 3:30713801-30713801 3:30672309-30672309
45 TMPO NM_003276.2(TMPO): c.1453A> G (p.Ile485Val) single nucleotide variant Uncertain significance rs1060502979 12:98927488-98927488 12:98533710-98533710
46 TMPO NM_003276.2(TMPO): c.898C> T (p.His300Tyr) single nucleotide variant Uncertain significance rs376074187 12:98926933-98926933 12:98533155-98533155
47 TMPO NM_003276.2(TMPO): c.1863_1864AT[1] (p.Thr621_Tyr622insTer) short repeat Uncertain significance rs767209319 12:98927900-98927901 12:98534122-98534123
48 TMPO NM_003276.2(TMPO): c.154C> T (p.Pro52Ser) single nucleotide variant Uncertain significance rs767796798 12:98909799-98909799 12:98516021-98516021
49 TMPO NM_003276.2(TMPO): c.1048C> T (p.Gln350Ter) single nucleotide variant Uncertain significance rs200124801 12:98927083-98927083 12:98533305-98533305
50 TMPO NM_003276.2(TMPO): c.1683C> A (p.Cys561Ter) single nucleotide variant Uncertain significance rs764177808 12:98927718-98927718 12:98533940-98533940

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

74 (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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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 ULK1 TRIO TGFBR2
2 peptidyl-serine phosphorylation GO:0018105 9.26 ULK1 TGFBR2
3 protein phosphorylation GO:0006468 9.13 ULK1 TRIO TGFBR2
4 peptidyl-threonine phosphorylation GO:0018107 8.62 ULK1 TGFBR2

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 ULK1 TRIO TGFBR2 GPT2
2 kinase activity GO:0016301 9.5 ULK1 TRIO TGFBR2
3 protein kinase activity GO:0004672 9.33 ULK1 TRIO TGFBR2
4 ATP binding GO:0005524 9.26 ULK1 TRIO TGFBR2 MYH11
5 protein serine/threonine kinase activity GO:0004674 8.8 ULK1 TRIO TGFBR2
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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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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