MRLS
MCID: MST021
MIFTS: 38

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 12 72 29 6 15
Mrls 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

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


HPO:

31
meester-loeys syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Meester-Loeys Syndrome

Disease Ontology : 12 A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has material basis in mutation in BGN on chromosome Xq28.

MalaCards based summary : Meester-Loeys Syndrome, also known as mrls, is related to tricuspid valve prolapse and bladder diverticulum. An important gene associated with Meester-Loeys Syndrome is BGN (Biglycan), and among its related pathways/superpathways is Glycosaminoglycan metabolism. Affiliated tissues include liver, kidney and breast, and related phenotypes are pes planus and aortic dissection

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 300989

Related Diseases for Meester-Loeys Syndrome

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



Diseases related to Meester-Loeys Syndrome

Symptoms & Phenotypes for Meester-Loeys Syndrome

Human phenotypes related to Meester-Loeys Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 pes planus 31 occasional (7.5%) HP:0001763
2 aortic dissection 31 occasional (7.5%) HP:0002647
3 ventriculomegaly 31 occasional (7.5%) HP:0002119
4 joint dislocation 31 occasional (7.5%) HP:0001373
5 relative macrocephaly 31 occasional (7.5%) HP:0004482
6 camptodactyly 31 occasional (7.5%) HP:0012385
7 pulmonary artery aneurysm 31 occasional (7.5%) HP:0004937
8 dilatation of the cerebral artery 31 occasional (7.5%) HP:0004944
9 cervical spine instability 31 occasional (7.5%) HP:0010646
10 abnormal sternum morphology 31 very rare (1%) HP:0000766
11 frontal bossing 31 HP:0002007
12 hypertelorism 31 HP:0000316
13 mitral regurgitation 31 HP:0001653
14 joint hypermobility 31 HP:0001382
15 downslanted palpebral fissures 31 HP:0000494
16 proptosis 31 HP:0000520
17 malar flattening 31 HP:0000272
18 bifid uvula 31 HP:0000193

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
malar hypoplasia

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 Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meester-Loeys Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 First-In Man (FIM) Study MR-Linac Completed NCT03284619
2 Magnetic Resonance-Guided Adaptive Radiotherapy (MRgART) Using an Integrated Magnetic Resonance Linear Accelerator (MRL) Recruiting NCT04135794
3 Non-invasive Nodal Staging in Breast Cancer With Magnetic Resonance Imaging Lymphography Using Gadofosveset Terminated NCT01609920 Gadofosveset enhanced MRL of axillary lymph nodes

Search 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:

40
Liver, Kidney, Breast, Tongue

Publications for Meester-Loeys Syndrome

Articles related to Meester-Loeys Syndrome:

(show top 50) (show all 1027)
# Title Authors PMID Year
1
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. 57 6
27632686 2017
2
Changes in soil and rat gut microbial diversity after long-term exposure to the chiral fungicide epoxiconazole. 61
33465613 2021
3
Acceptable risk of fenpropathrin and emamectin benzoate in the minor crop Mugua (Chaenomeles speciosa) after postharvest processing. 61
33592440 2021
4
Residue behavior and dietary risk assessment of six pesticides in pak choi using QuEChERS method coupled with UPLC-MS/MS. 61
33609999 2021
5
Probabilistic health risk assessment based on Monte Carlo simulation for pesticide residues in date fruits of Iran. 61
33797041 2021
6
Quantification of fosetyl-aluminium/phosphonic acid and other highly polar residues in pomegranates using Quick Polar Pesticides method involving liquid chromatography-tandem mass spectrometry measurement. 61
33714773 2021
7
Oral and topical extra-label administration of fipronil to laying hens: Assessment of the egg residue patterns. 61
33763877 2021
8
Peer review of the pesticide risk assessment of the active substance phosmet. 61
33747228 2021
9
Setting of an import tolerance for potassium phosphonates in blueberries. 61
33747230 2021
10
Overcoming matrix effects in the analysis of pyrethroids in honey by a fully automated direct immersion solid-phase microextraction method using a matrix-compatible fiber. 61
33032149 2021
11
Review of the existing maximum residue levels for cyproconazole according to Article 12 of Regulation (EC) No 396/2005. 61
33777236 2021
12
A lognormal model for evaluating maximum residue levels of pesticides in crops. 61
33725536 2021
13
Levels of pesticide residues in fruits and vegetables in the Turkish domestic markets. 61
33759100 2021
14
Dissipation kinetics and processing behavior of boscalid and pyraclostrobin in greenhouse dill plant (Anethum graveolens L.) and soil. 61
33773022 2021
15
Monitoring of Some Chemical contaminants Residue in Imported Wheat and Barley Grains Using QuEChERS Method and GC-MS/MS. 61
33723588 2021
16
Review of the existing maximum residue levels for pinoxaden according to Article 12 of Regulation (EC) No 396/2005. 61
33786070 2021
17
Meniscal ramp lesions: frequency, natural history, and the effect on knee cartilage over 2 years in subjects with anterior cruciate ligament tears. 61
32901305 2021
18
Fluoroquinolone antibiotics and organophosphate pesticides induce carbonylation on Eisenia fetida muscle proteins. 61
33333305 2021
19
Focussed assessment of certain existing MRLs of concern for Spinosad. 61
33613743 2021
20
Pesticide Residues and Risk Assessment from Monitoring Programs in the Largest Production Area of Leafy Vegetables in South Korea: A 15-Year Study. 61
33672067 2021
21
Modification of the existing maximum residue levels for cyflumetofen in various crops. 61
33664844 2021
22
Development and Validation of an Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Method to Determine Maduramicin in Crayfish (Procambarus clarkii) and Evaluate Food Safety. 61
33540848 2021
23
Modification of the existing maximum residue levels for difenoconazole in leafy brassica. 61
33603896 2021
24
Human health risk assessment of dichlorodiphenyltrichloroethane (DDT) and hexachlorocyclohexane (HCH) pesticide residues in fruits and vegetables in Nigeria. 61
33638082 2021
25
Modification of the existing maximum residue levels for acibenzolar-S-methyl in beans with pods and peas with pods. 61
33680135 2021
26
Levels of Metals and Organochlorine Pesticides in Kidney, Liver, and Muscle Tissues of Wild Boars (Sus scrofa) from Hatay Province, Eastern Mediterranean Region, Turkey. 61
33388900 2021
27
Evaluation of confirmatory data following the Article 12 MRL review for propiconazole. 61
33598049 2021
28
Heavy metal concentrations in the macroalgae, seagrasses, mangroves, and crabs collected from the Tuticorin coast (Hare Island), Gulf of Mannar, South India. 61
33503565 2021
29
[Evaluation on a Simultaneous Analytical Method of Pesticide Residues in Limes]. 61
33658462 2021
30
[Determination of Asulam in Livestock Products by LC-MS/MS]. 61
33658458 2021
31
Modification of the existing maximum residue levels for tebufenozide in apricots and peaches. 61
33537071 2021
32
Determination of antibiotic residues in honey in relation to different potential sources and relevance for food inspection. 61
32707361 2021
33
Residue analysis and dietary exposure risk assessment of acibenzolar-S-methyl and its metabolite acibenzolar acid in potato, garlic, cabbage, grape and tomato. 61
32905931 2021
34
Dissipation kinetics and consumer risk assessment of novaluron + lambda-cyhalothrin co-formulation in cabbage. 61
33120258 2021
35
Review of the existing maximum residue levels for thiram according to Article 12 of Regulation (EC) No 396/2005. 61
33537070 2021
36
Reasoned opinion on the toxicological properties and maximum residue levels for propoxur. 61
33488813 2021
37
Organochlorine pesticide residues in raw milk samples collected from dairy farms and urban areas of Lahore district, Pakistan. 61
33505057 2021
38
Review of the existing maximum residue levels for sulfuryl fluoride according to Article 12 of Regulation (EC) No 396/2005. 61
33552297 2021
39
Modification of the existing maximum residue levels for bentazone in beans and peas with and without pods. 61
33456554 2021
40
Modification of the existing maximum residue levels and setting of import tolerances for metiram in various crops. 61
33531971 2021
41
Modification of the existing maximum residue levels for clopyralid in various commodities. 61
33519993 2021
42
Pharmacokinetics, bioavailability and tissue residues of doxycycline in Japanese quails (Coturnix coturnix japonica) after oral administration. 61
33066710 2020
43
A survey of 59 pesticide residues in Turkish chicken eggs using LC-MS/MS. 61
32498611 2020
44
Evaluation of confirmatory data following the Article 12 MRL review and setting of import tolerances for bifenthrin in maize grain and sweet corn. 61
33376554 2020
45
Use of a healthy volunteer imaging program to optimize clinical implementation of stereotactic MR-guided adaptive radiotherapy. 61
33305025 2020
46
Residue behavior and safety evaluation of pymetrozine in tea. 61
33368323 2020
47
Heavy metal and pesticide levels in dairy products: Evaluation of human health risk. 61
33152470 2020
48
Pesticide active substances that do not require a review of the existing maximum residue levels under Article 12 of Regulation (EC) No 396/2005. 61
33343728 2020
49
Focussed assessment of certain existing MRLs of concern for methoxyfenozide. 61
33343729 2020
50
Evaluation of confirmatory data following the Article 12 MRL review and setting of an import tolerance for flutriafol in cucurbits (inedible peel). 61
33312236 2020

Variations for Meester-Loeys Syndrome

ClinVar genetic disease variations for Meester-Loeys Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BGN NM_001711.6(BGN):c.238G>A (p.Gly80Ser) SNV Pathogenic 265798 rs886037825 GRCh37: X:152770327-152770327
GRCh38: X:153504869-153504869
2 BGN NM_001711.6(BGN):c.908A>C (p.Gln303Pro) SNV Pathogenic 265795 rs886037824 GRCh37: X:152772642-152772642
GRCh38: X:153507184-153507184
3 BGN NM_001711.6(BGN):c.5G>A (p.Trp2Ter) SNV Pathogenic 265794 rs886037823 GRCh37: X:152770094-152770094
GRCh38: X:153504636-153504636
4 overlap with 2 genes BGN, 21-KB DEL (SCV000266570) Deletion Pathogenic 265796 GRCh37: X:152767424-152787984
GRCh38: X:153501969-153522529
5 BGN NM_001711.6(BGN):c.997A>G (p.Asn333Asp) SNV Uncertain significance 1033442 GRCh37: X:152773793-152773793
GRCh38: X:153508335-153508335

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

Molecular functions related to Meester-Loeys Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 EFEMP2 BGN

Sources for Meester-Loeys Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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