MRLS
MCID: MST021
MIFTS: 28

Meester-Loeys Syndrome (MRLS)

Categories: Genetic diseases

Aliases & Classifications for Meester-Loeys Syndrome

MalaCards integrated aliases for Meester-Loeys Syndrome:

Name: Meester-Loeys Syndrome 57 75 29 6
Mrls 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
phenotype of carrier females ranges from unaffected to fatal aortic dissection


HPO:

32
meester-loeys syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Meester-Loeys Syndrome

UniProtKB/Swiss-Prot : 75 Meester-Loeys syndrome: An X-linked, thoracic aortic aneurysm syndrome characterized by early- onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia.

MalaCards based summary : Meester-Loeys Syndrome, also known as mrls, is related to systemic lupus erythematosus and sialadenitis. An important gene associated with Meester-Loeys Syndrome is BGN (Biglycan). Affiliated tissues include skin, kidney and thyroid, and related phenotypes are malar flattening and hypertelorism

Description from OMIM: 300989

Related Diseases for Meester-Loeys Syndrome

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.4
2 sialadenitis 10.4
3 autoimmune disease 10.4
4 lupus erythematosus 10.4
5 glomerulonephritis 10.4
6 arthritis 10.2
7 vasculitis 10.2
8 autoimmune glomerulonephritis 10.2
9 autoimmune lymphoproliferative syndrome 10.1
10 lymphoproliferative syndrome 10.1
11 pancreatitis 10.1
12 autoimmune pancreatitis 10.1
13 ovarian cyst 10.1
14 collagen disease 10.1
15 skin disease 10.0
16 immune-complex glomerulonephritis 10.0
17 dacryoadenitis 10.0
18 rheumatoid arthritis 9.9
19 corneal dystrophy, band-shaped 9.9
20 keratopathy 9.9
21 vaccinia 9.9
22 central nervous system disease 9.9
23 nervous system disease 9.9
24 b-cell growth factor 9.8
25 biliary cirrhosis, primary, 1 9.8
26 hashimoto thyroiditis 9.8
27 osteoporosis 9.8
28 complement factor d deficiency 9.8
29 dengue virus 9.8
30 graft-versus-host disease 9.8
31 glucocorticoid resistance, generalized 9.8
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
33 dengue disease 9.8
34 hydrocephalus 9.8
35 primary biliary cirrhosis 9.8
36 severe combined immunodeficiency 9.8
37 autoimmune vasculitis 9.8
38 cutaneous lupus erythematosus 9.8
39 metabolic acidosis 9.8
40 interstitial nephritis 9.8
41 hydronephrosis 9.8
42 listeriosis 9.8
43 vascular disease 9.8
44 thrombophilia 9.8
45 dermatitis 9.8
46 cryoglobulinemia 9.8
47 inner ear disease 9.8
48 arthropathy 9.8
49 cochlear disease 9.8
50 kidney disease 9.8

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



Diseases related to Meester-Loeys Syndrome

Symptoms & Phenotypes for Meester-Loeys Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

Skeletal Limbs:
joint hypermobility
joint dislocation (in some patients)
joint contracture (in some patients)

Head And Neck Head:
relative macrocephaly (in some patients)

Head And Neck Mouth:
bifid uvula (in 1 patient)

Cardiovascular Vascular:
aneurysm of aortic root
aneurysm of ascending aorta (in some patients)
aortic dissection (in some patients)
pulmonary artery aneurysm (rare)
cerebral aneurysm (rare)

Skeletal Spine:
cervical spine instability (rare)

Skin Nails Hair Skin:
skin striae (in some patients)

Head And Neck Face:
frontal bossing
malar hypoplasia

Skeletal Hands:
joint hypermobility
short spatulate fingers
camptodactyly (in some patients)

Skeletal Skull:
relative macrocephaly (in some patients)

Cardiovascular Heart:
mitral valve insufficiency, mild
aortic valve insufficiency, mild

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformities (in some patients)

Skeletal Feet:
camptodactyly (in some patients)
flat feet (in some patients)

Neurologic Central Nervous System:
dilated cerebral ventricles (in some patients)


Clinical features from OMIM:

300989

Human phenotypes related to Meester-Loeys Syndrome:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 joint dislocation 32 occasional (7.5%) HP:0001373
4 frontal bossing 32 HP:0002007
5 pes planus 32 occasional (7.5%) HP:0001763
6 aortic dissection 32 occasional (7.5%) HP:0002647
7 ventriculomegaly 32 occasional (7.5%) HP:0002119
8 mitral regurgitation 32 HP:0001653
9 joint hypermobility 32 HP:0001382
10 downslanted palpebral fissures 32 HP:0000494
11 proptosis 32 HP:0000520
12 bifid uvula 32 HP:0000193
13 relative macrocephaly 32 occasional (7.5%) HP:0004482
14 camptodactyly 32 occasional (7.5%) HP:0012385
15 pulmonary artery aneurysm 32 occasional (7.5%) HP:0004937
16 dilatation of the cerebral artery 32 occasional (7.5%) HP:0004944
17 cervical spine instability 32 occasional (7.5%) HP:0010646

Drugs & Therapeutics for Meester-Loeys Syndrome

Search Clinical Trials , NIH Clinical Center for Meester-Loeys Syndrome

Genetic Tests for Meester-Loeys Syndrome

Genetic tests related to Meester-Loeys Syndrome:

# Genetic test Affiliating Genes
1 Meester-Loeys Syndrome 29 BGN

Anatomical Context for Meester-Loeys Syndrome

MalaCards organs/tissues related to Meester-Loeys Syndrome:

41
Skin, Kidney, Thyroid, T Cells, B Cells, Testes

Publications for Meester-Loeys Syndrome

Articles related to Meester-Loeys Syndrome:

(show all 11)
# Title Authors Year
1
Impact of a proposed revision of the IESTI equation on the acute risk assessment conducted when setting maximum residue levels (MRLs) in the European Union (EU): A case study. ( 29584573 )
2018
2
Comprehensive Analysis of the Value of Single Versus Multiple Year (Season) Crop Residue Data for Establishment of Maximum Residue Levels (MRLs). ( 28045516 )
2017
3
Fast Gas Chromatography with Tandem Mass Spectrometry Analysis of Selected Persistent Organic Pollutants and Organophosphorus and Synthetic Pyrethroid Pesticides in Indian Prawn (Fenneropenaeus indicus) in Compliance with the EU-MRLs. ( 28303785 )
2017
4
The role of validated analytical methods in JECFA drug assessments and evaluation for recommending MRLs. ( 27443214 )
2016
5
Use of Combined Uncertainty of Pesticide Residue Results for Testing Compliance with Maximum Residue Limits (MRLs). ( 25658668 )
2015
6
Optimization of gas chromatography-single quadrupole mass spectrometry conditions for multiresidue analysis of pesticides in grapes in compliance to EU-MRLs. ( 23265529 )
2013
7
Investigation into the experimental protocols required to determine maximum residue limits (MRLs) in honey. ( 22851368 )
2012
8
VMD seeks views on proposed changes to MRLs legislation. ( 22912961 )
2012
9
Pesticide residue variability--implications for Codex MRLs and world trade. ( 10983591 )
2000
10
Microbiological endpoint testing for veterinary antimicrobials--setting MRLs. ( 7737607 )
1995
11
Horses and MRLs. ( 8171818 )
1994

Variations for Meester-Loeys Syndrome

ClinVar genetic disease variations for Meester-Loeys Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BGN NM_001711.5(BGN): c.5G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs886037823 GRCh37 Chromosome X, 152770094: 152770094
2 BGN NM_001711.5(BGN): c.5G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs886037823 GRCh38 Chromosome X, 153504636: 153504636
3 BGN NM_001711.5(BGN): c.238G> A (p.Gly80Ser) single nucleotide variant Pathogenic rs886037825 GRCh37 Chromosome X, 152770327: 152770327
4 BGN NM_001711.5(BGN): c.238G> A (p.Gly80Ser) single nucleotide variant Pathogenic rs886037825 GRCh38 Chromosome X, 153504869: 153504869
5 BGN NM_001711.5(BGN): c.908A> C (p.Gln303Pro) single nucleotide variant Pathogenic rs886037824 GRCh37 Chromosome X, 152772642: 152772642
6 BGN NM_001711.5(BGN): c.908A> C (p.Gln303Pro) single nucleotide variant Pathogenic rs886037824 GRCh38 Chromosome X, 153507184: 153507184
7 BGN NC_000023.10: g.152767424_152787984del20561 deletion Pathogenic GRCh37 Chromosome X, 152767424: 152787984

Expression for Meester-Loeys Syndrome

Search GEO for disease gene expression data for Meester-Loeys Syndrome.

Pathways for Meester-Loeys Syndrome

GO Terms for Meester-Loeys Syndrome

Sources for Meester-Loeys Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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