MCID: LYS018
MIFTS: 35

Loeys-Dietz Syndrome 2

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

Aliases & Classifications for Loeys-Dietz Syndrome 2

MalaCards integrated aliases for Loeys-Dietz Syndrome 2:

Name: Loeys-Dietz Syndrome 2 57 53 75 29 6
Marfan Syndrome Type 2 59 75 29 73
Aortic Aneurysm, Familial Thoracic 3 57 73
Loeys-Dietz Syndrome Type 2 53 73
Lds2 57 75
Aat3 57 75
Mfs2 59 75
Aortic Aneurysm, Familial Thoracic 3; Aat3 57
Thoracic Aortic Aneurysms and Dissection 2 75
Familial Aortic Aneurysm Thoracic Type 3 75
Marfan Syndrome, Type Ii, Formerly 57
Syndrome, Loeys-Dietz, Type 2 40
Taad2 75

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 heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 2

UniProtKB/Swiss-Prot : 75 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 aortic aneurysm, familial thoracic 1. 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 malar flattening and hypertelorism

Description from OMIM: 610168

Related Diseases for Loeys-Dietz Syndrome 2

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 30.3 TGFBR2 TMPO
2 aortic aneurysm, familial thoracic 1 9.9
3 aortic aneurysm 9.9
4 familial thoracic aortic aneurysm and dissection 9.9
5 aneurysm 9.9
6 marfan syndrome 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

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

Growth Other:
dolichostenomelia (uncommon)

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:
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)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity


Clinical features from OMIM:

610168

Human phenotypes related to Loeys-Dietz Syndrome 2:

32 (show all 49)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 HP:0000767
4 hydrocephalus 32 occasional (7.5%) HP:0000238
5 intellectual disability 32 occasional (7.5%) HP:0001249
6 scoliosis 32 HP:0002650
7 inguinal hernia 32 occasional (7.5%) HP:0000023
8 global developmental delay 32 occasional (7.5%) HP:0001263
9 pectus carinatum 32 HP:0000768
10 umbilical hernia 32 occasional (7.5%) HP:0001537
11 pes planus 32 HP:0001763
12 osteoporosis 32 occasional (7.5%) HP:0000939
13 cleft palate 32 occasional (7.5%) HP:0000175
14 micrognathia 32 HP:0000347
15 retrognathia 32 HP:0000278
16 patent ductus arteriosus 32 HP:0001643
17 atrial septal defect 32 occasional (7.5%) HP:0001631
18 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
19 arnold-chiari malformation 32 occasional (7.5%) HP:0002308
20 striae distensae 32 HP:0001065
21 arachnodactyly 32 HP:0001166
22 disproportionate tall stature 32 occasional (7.5%) HP:0001519
23 spontaneous pneumothorax 32 HP:0002108
24 ectopia lentis 32 HP:0001083
25 mitral valve prolapse 32 occasional (7.5%) HP:0001634
26 protrusio acetabuli 32 HP:0003179
27 spondylolisthesis 32 HP:0003302
28 ascending aortic dissection 32 HP:0004933
29 brachydactyly 32 HP:0001156
30 joint laxity 32 HP:0001388
31 talipes equinovarus 32 HP:0001762
32 proptosis 32 HP:0000520
33 craniosynostosis 32 occasional (7.5%) HP:0001363
34 blue sclerae 32 HP:0000592
35 bifid uvula 32 HP:0000193
36 camptodactyly 32 HP:0012385
37 syndactyly 32 occasional (7.5%) HP:0001159
38 exotropia 32 HP:0000577
39 dermal translucency 32 HP:0010648
40 absent distal phalanges 32 occasional (7.5%) HP:0005807
41 joint contracture of the hand 32 HP:0009473
42 pulmonary artery aneurysm 32 HP:0004937
43 postaxial polydactyly 32 occasional (7.5%) HP:0100259
44 polydactyly 32 occasional (7.5%) HP:0010442
45 dilatation of the cerebral artery 32 occasional (7.5%) HP:0004944
46 ascending tubular aorta aneurysm 32 HP:0004970
47 generalized arterial tortuosity 32 HP:0004955
48 descending thoracic aorta aneurysm 32 occasional (7.5%) HP:0004959
49 bicuspid pulmonary valve 32 occasional (7.5%) HP:0005182

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.7 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.7 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.7 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.7 TMPO
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.7 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.7 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.7 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.7 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.7 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 TMPO
15 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.7 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.7 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 TMPO
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.7 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.7 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.7 TGFBR2 TMPO
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 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:

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

Publications for Loeys-Dietz Syndrome 2

Articles related to Loeys-Dietz Syndrome 2:

# Title Authors Year
1
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. ( 8946175 )
1996

Variations for Loeys-Dietz Syndrome 2

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

75 (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 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh37 Chromosome 3, 30730003: 30730003
2 TGFBR2 NM_001024847.2(TGFBR2): c.1599G> A (p.Gln533=) single nucleotide variant Pathogenic rs121918715 GRCh38 Chromosome 3, 30688511: 30688511
3 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh37 Chromosome 3, 30713598: 30713598
4 TGFBR2 NM_003242.5(TGFBR2): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs28934568 GRCh38 Chromosome 3, 30672106: 30672106
5 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh37 Chromosome 3, 30715688: 30715688
6 TGFBR2 NM_003242.5(TGFBR2): c.1346C> T (p.Ser449Phe) single nucleotide variant Pathogenic rs104893807 GRCh38 Chromosome 3, 30674196: 30674196
7 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh37 Chromosome 3, 30732996: 30732996
8 TGFBR2 NM_003242.5(TGFBR2): c.1609C> T (p.Arg537Cys) single nucleotide variant Pathogenic rs104893809 GRCh38 Chromosome 3, 30691504: 30691504
9 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh37 Chromosome 3, 30713681: 30713681
10 TGFBR2 NM_003242.5(TGFBR2): c.1006T> A (p.Tyr336Asn) single nucleotide variant Pathogenic rs104893812 GRCh38 Chromosome 3, 30672189: 30672189
11 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh37 Chromosome 3, 30713738: 30713738
12 TGFBR2 NM_003242.5(TGFBR2): c.1063G> C (p.Ala355Pro) single nucleotide variant Pathogenic rs104893813 GRCh38 Chromosome 3, 30672246: 30672246
13 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh37 Chromosome 3, 30713744: 30713744
14 TGFBR2 NM_003242.5(TGFBR2): c.1069G> T (p.Gly357Trp) single nucleotide variant Pathogenic rs104893814 GRCh38 Chromosome 3, 30672252: 30672252
15 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
16 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
17 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh37 Chromosome 3, 30732969: 30732969
18 TGFBR2 NM_003242.5(TGFBR2): c.1582C> T (p.Arg528Cys) single nucleotide variant Pathogenic rs104893810 GRCh38 Chromosome 3, 30691477: 30691477
19 TGFBR2 TGFBR2, IVS1, A-G, -2 single nucleotide variant Pathogenic
20 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh37 Chromosome 3, 30715720: 30715720
21 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh38 Chromosome 3, 30674228: 30674228
22 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh37 Chromosome 3, 30715721: 30715721
23 TGFBR2 NM_003242.5(TGFBR2): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs104893816 GRCh38 Chromosome 3, 30674229: 30674229
24 TGFBR2 NM_001024847.2(TGFBR2): c.1472-2A> G single nucleotide variant Pathogenic rs587776770 GRCh37 Chromosome 3, 30729874: 30729874
25 TGFBR2 NM_001024847.2(TGFBR2): c.1472-2A> G single nucleotide variant Pathogenic rs587776770 GRCh38 Chromosome 3, 30688382: 30688382
26 TGFBR2 NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val) single nucleotide variant Pathogenic rs104893817 GRCh37 Chromosome 3, 30715615: 30715615
27 TGFBR2 NM_003242.5(TGFBR2): c.1273A> G (p.Met425Val) single nucleotide variant Pathogenic rs104893817 GRCh38 Chromosome 3, 30674123: 30674123
28 TGFBR2 NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu) single nucleotide variant Pathogenic rs104893818 GRCh37 Chromosome 3, 30715622: 30715622
29 TGFBR2 NM_003242.5(TGFBR2): c.1280C> T (p.Pro427Leu) single nucleotide variant Pathogenic rs104893818 GRCh38 Chromosome 3, 30674130: 30674130
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 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh37 Chromosome 3, 30713742: 30713742
33 TGFBR2 NM_003242.5(TGFBR2): c.1067G> C (p.Arg356Pro) single nucleotide variant Pathogenic rs727504292 GRCh38 Chromosome 3, 30672250: 30672250
34 TMPO NM_003276.2(TMPO): c.1309G> C (p.Val437Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145703021 GRCh37 Chromosome 12, 98927344: 98927344
35 TMPO NM_003276.2(TMPO): c.1309G> C (p.Val437Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145703021 GRCh38 Chromosome 12, 98533566: 98533566
36 TMPO NM_003276.2(TMPO): c.225G> A (p.Pro75=) single nucleotide variant Benign rs59027673 GRCh37 Chromosome 12, 98909870: 98909870
37 TMPO NM_003276.2(TMPO): c.225G> A (p.Pro75=) single nucleotide variant Benign rs59027673 GRCh38 Chromosome 12, 98516092: 98516092
38 TMPO NM_003276.2(TMPO): c.686C> T (p.Thr229Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138790561 GRCh37 Chromosome 12, 98926721: 98926721
39 TMPO NM_003276.2(TMPO): c.686C> T (p.Thr229Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138790561 GRCh38 Chromosome 12, 98532943: 98532943
40 TMPO NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs34301677 GRCh37 Chromosome 12, 98927464: 98927464
41 TMPO NM_003276.2(TMPO): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs34301677 GRCh38 Chromosome 12, 98533686: 98533686
42 TMPO NM_003276.2(TMPO): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs730880228 GRCh38 Chromosome 12, 98516115: 98516115
43 TMPO NM_003276.2(TMPO): c.248C> T (p.Ala83Val) single nucleotide variant Uncertain significance rs730880228 GRCh37 Chromosome 12, 98909893: 98909893
44 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh38 Chromosome 12, 98533534: 98533534
45 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh37 Chromosome 12, 98927312: 98927312
46 TMPO NM_003276.2(TMPO): c.350A> G (p.Asn117Ser) single nucleotide variant Likely benign rs141387097 GRCh37 Chromosome 12, 98921734: 98921734
47 TMPO NM_003276.2(TMPO): c.350A> G (p.Asn117Ser) single nucleotide variant Likely benign rs141387097 GRCh38 Chromosome 12, 98527956: 98527956
48 TMPO NM_003276.2(TMPO): c.1198A> G (p.Met400Val) single nucleotide variant Uncertain significance rs771185259 GRCh37 Chromosome 12, 98927233: 98927233
49 TMPO NM_003276.2(TMPO): c.1198A> G (p.Met400Val) single nucleotide variant Uncertain significance rs771185259 GRCh38 Chromosome 12, 98533455: 98533455
50 TGFBR2 NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs863223852 GRCh38 Chromosome 3, 30688476: 30688476

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

Sources for Loeys-Dietz Syndrome 2

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