MCID: LYS019
MIFTS: 35

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 54 50 71 29
Loeys-Dietz Aortic Aneurysm Syndrome 71 69
Loeys-Dietz Syndrome Type 1 50 69
Furlong Syndrome 71 69
Marfanoid Disorder-Craniosynostosis Syndrome 71
Familial Thoracic Aortic Aneurysm 5 71
Loeys-Dietz Syndrome, Type 2a 69
Aat5 71
Ldas 71
Lds1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
loeys-dietz syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 1

OMIM : 54
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 scoliosis, hydrocephalus and micrognathia. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1). Affiliated tissues include skin, brain and spleen.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on loeys-dietz syndrome.

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.

Related Diseases for Loeys-Dietz Syndrome 1

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

id Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 11.6
2 loeys-dietz syndrome 5 10.9
3 aortic aneurysm 10.1
4 aneurysm 10.1
5 extrapulmonary tuberculosis 9.8
6 tuberculosis 9.8
7 angiomyoma 9.8

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:

54

Skeletal- Spine:
scoliosis

Head And Neck- Eyes:
hypertelorism
proptosis
blue sclerae
exotropia

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

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

Chest- Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails & Hair- Skin:
translucent skin
velvety texture

Head And Neck- Face:
micrognathia
retrognathia

Skeletal:
joint laxity

Skeletal- Hands:
camptodactyly
arachnodactyly
postaxial polydactyly (rare)

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

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

Skeletal- Skull:
malar hypoplasia
craniosynostosis (uncommon)

Growth- Other:
dolichostenomelia (uncommon)


Clinical features from OMIM:

609192

Human phenotypes related to Loeys-Dietz Syndrome 1:

32 (show all 36)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 hydrocephalus 32 occasional (7.5%) HP:0000238
3 micrognathia 32 HP:0000347
4 hypertelorism 32 hallmark (90%) HP:0000316
5 proptosis 32 frequent (33%) HP:0000520
6 joint laxity 32 frequent (33%) HP:0001388
7 cleft palate 32 frequent (33%) HP:0000175
8 atrial septal defect 32 very rare (1%) HP:0001631
9 patent ductus arteriosus 32 very rare (1%) HP:0001643
10 retrognathia 32 frequent (33%) HP:0000278
11 global developmental delay 32 very rare (1%) HP:0001263
12 camptodactyly 32 HP:0012385
13 talipes equinovarus 32 frequent (33%) HP:0001762
14 intellectual disability 32 HP:0001249
15 bifid uvula 32 frequent (33%) HP:0000193
16 mitral valve prolapse 32 HP:0001634
17 arachnodactyly 32 frequent (33%) HP:0001166
18 craniosynostosis 32 frequent (33%) HP:0001363
19 blue sclerae 32 frequent (33%) HP:0000592
20 malar flattening 32 frequent (33%) HP:0000272
21 exotropia 32 HP:0000577
22 ascending aortic dissection 32 frequent (33%) HP:0004933
23 pulmonary artery aneurysm 32 HP:0004937
24 bicuspid aortic valve 32 HP:0001647
25 soft skin 32 frequent (33%) HP:0000977
26 arnold-chiari malformation 32 occasional (7.5%) HP:0002308
27 disproportionate tall stature 32 occasional (7.5%) HP:0001519
28 abnormality of the sternum 32 frequent (33%) HP:0000766
29 postaxial hand polydactyly 32 HP:0001162
30 joint contracture of the hand 32 frequent (33%) HP:0009473
31 dermal translucency 32 HP:0010648
32 dilatation of the cerebral artery 32 HP:0004944
33 dilatation of ascending aorta 32 hallmark (90%) HP:0002631
34 generalized arterial tortuosity 32 frequent (33%) HP:0004955
35 dilatation of the descending aortic 32 HP:0004954
36 bicuspid pulmonary valve 32 occasional (7.5%) HP:0005182

UMLS symptoms related to Loeys-Dietz Syndrome 1:


joint laxity

Drugs & Therapeutics for Loeys-Dietz Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
2 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
3 Natural History and Genetics of Food Allergy and Related Conditions Recruiting NCT02504853
4 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533

Search NIH Clinical Center for Loeys-Dietz Syndrome 1

Genetic Tests for Loeys-Dietz Syndrome 1

Genetic tests related to Loeys-Dietz Syndrome 1:

id Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 1 29

Anatomical Context for Loeys-Dietz Syndrome 1

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

39
Skin, Brain, Spleen, Uterus

Publications for Loeys-Dietz Syndrome 1

Variations for Loeys-Dietz Syndrome 1

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

71 (show all 11)
id 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
id 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/Likely 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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