MCID: LYS019
MIFTS: 31

Loeys-Dietz Syndrome 1

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 1

MalaCards integrated aliases for Loeys-Dietz Syndrome 1:

Name: Loeys-Dietz Syndrome 1 53 49 71 28
Loeys-Dietz Aortic Aneurysm Syndrome 53 71 69
Furlong Syndrome 53 71 69
Loeys-Dietz Syndrome Type 1 49 69
Lds1 53 71
Aat5 53 71
Marfanoid Disorder-Craniosynostosis Syndrome 71
Aortic Aneurysm, Familial Thoracic 5; Aat5 53
Aortic Aneurysm, Familial Thoracic 5 53
Familial Thoracic Aortic Aneurysm 5 71
Loeys-Dietz Syndrome, Type 2a 69
Ldas 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
loeys-dietz syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 1

OMIM : 53 The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). (609192)

MalaCards based summary : Loeys-Dietz Syndrome 1, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome and loeys-dietz syndrome 5, and has symptoms including joint laxity, malar flattening and hypertelorism. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1). Affiliated tissues include skin, brain and spleen.

UniProtKB/Swiss-Prot : 71 Loeys-Dietz syndrome 1: 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Loeys-Dietz syndrome.

Related Diseases for Loeys-Dietz Syndrome 1

Diseases related to Loeys-Dietz Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 11.1
2 loeys-dietz syndrome 5 11.0
3 mycobacterium tuberculosis 1 9.9
4 extrapulmonary tuberculosis 9.9
5 angiomyoma 9.9

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 1:



Diseases related to Loeys-Dietz Syndrome 1

Symptoms & Phenotypes for Loeys-Dietz Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity

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

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

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

Chest RibsSternum Clavicles And Scapulae:
pectus deformity

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

Head And Neck Face:
micrognathia
retrognathia

Skeletal Hands:
arachnodactyly
camptodactyly
postaxial polydactyly (rare)

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

Skeletal Skull:
malar hypoplasia
craniosynostosis (uncommon)

Growth Other:
dolichostenomelia (uncommon)

Skin Nails Hair Skin:
velvety texture
translucent skin


Clinical features from OMIM:

609192

Human phenotypes related to Loeys-Dietz Syndrome 1:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 frequent (33%) HP:0001388
2 malar flattening 31 frequent (33%) HP:0000272
3 hypertelorism 31 hallmark (90%) HP:0000316
4 hydrocephalus 31 occasional (7.5%) HP:0000238
5 intellectual disability 31 HP:0001249
6 scoliosis 31 frequent (33%) HP:0002650
7 global developmental delay 31 very rare (1%) HP:0001263
8 cleft palate 31 frequent (33%) HP:0000175
9 micrognathia 31 HP:0000347
10 retrognathia 31 frequent (33%) HP:0000278
11 patent ductus arteriosus 31 very rare (1%) HP:0001643
12 atrial septal defect 31 very rare (1%) HP:0001631
13 bicuspid aortic valve 31 HP:0001647
14 arnold-chiari malformation 31 occasional (7.5%) HP:0002308
15 arachnodactyly 31 frequent (33%) HP:0001166
16 disproportionate tall stature 31 occasional (7.5%) HP:0001519
17 mitral valve prolapse 31 HP:0001634
18 ascending aortic dissection 31 frequent (33%) HP:0004933
19 talipes equinovarus 31 frequent (33%) HP:0001762
20 proptosis 31 frequent (33%) HP:0000520
21 craniosynostosis 31 frequent (33%) HP:0001363
22 blue sclerae 31 frequent (33%) HP:0000592
23 abnormality of the sternum 31 frequent (33%) HP:0000766
24 postaxial hand polydactyly 31 HP:0001162
25 bifid uvula 31 frequent (33%) HP:0000193
26 camptodactyly 31 HP:0012385
27 exotropia 31 HP:0000577
28 dermal translucency 31 HP:0010648
29 joint contracture of the hand 31 frequent (33%) HP:0009473
30 pulmonary artery aneurysm 31 HP:0004937
31 soft skin 31 frequent (33%) HP:0000977
32 aortic root aneurysm 31 hallmark (90%) HP:0002616
33 dilatation of the cerebral artery 31 HP:0004944
34 generalized arterial tortuosity 31 frequent (33%) HP:0004955
35 descending thoracic aorta aneurysm 31 HP:0004959
36 bicuspid pulmonary valve 31 occasional (7.5%) HP:0005182

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 1

Genetic Tests for Loeys-Dietz Syndrome 1

Genetic tests related to Loeys-Dietz Syndrome 1:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 28

Anatomical Context for Loeys-Dietz Syndrome 1

MalaCards organs/tissues related to Loeys-Dietz Syndrome 1:

38
Skin, Brain, Spleen, Uterus

Publications for Loeys-Dietz Syndrome 1

Articles related to Loeys-Dietz Syndrome 1:

# Title Authors Year
1
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. ( 16283890 )
2005

Variations for Loeys-Dietz Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 1:

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TGFBR1 p.Thr200Ile VAR_022344 rs121918712
2 TGFBR1 p.Met318Arg VAR_022345 rs121918710
3 TGFBR1 p.Asp400Gly VAR_022346 rs121918711
4 TGFBR1 p.Arg487Pro VAR_022347 rs113605875
5 TGFBR1 p.Lys232Glu VAR_029481
6 TGFBR1 p.Ser241Leu VAR_029482 rs111854391
7 TGFBR1 p.Arg487Gln VAR_029484 rs113605875
8 TGFBR1 p.Arg487Trp VAR_029485 rs111426349
9 TGFBR1 p.Asp266Tyr VAR_066720
10 TGFBR1 p.Asp351Gly VAR_066721
11 TGFBR1 p.Thr375Arg VAR_066722

ClinVar genetic disease variations for Loeys-Dietz Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR1 NM_004612.3(TGFBR1): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs121918710 GRCh37 Chromosome 9, 101904965: 101904965
2 TGFBR1 NM_004612.3(TGFBR1): c.1199A> G (p.Asp400Gly) single nucleotide variant Pathogenic rs121918711 GRCh37 Chromosome 9, 101908835: 101908835
3 TGFBR1 NM_004612.3(TGFBR1): c.599C> T (p.Thr200Ile) single nucleotide variant Pathogenic rs121918712 GRCh37 Chromosome 9, 101900165: 101900165
4 TGFBR1 NM_004612.3(TGFBR1): c.1460G> C (p.Arg487Pro) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
5 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
6 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
7 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
8 TGFBR1 NM_004612.3(TGFBR1): c.521G> T (p.Gly174Val) single nucleotide variant Pathogenic rs121918713 GRCh37 Chromosome 9, 101894968: 101894968

Expression for Loeys-Dietz Syndrome 1

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 1.

Pathways for Loeys-Dietz Syndrome 1

GO Terms for Loeys-Dietz Syndrome 1

Sources for Loeys-Dietz Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
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36 KEGG
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41 MeSH
42 MESH via Orphanet
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50 NINDS
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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