Meester-Loeys Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300989

MedGen ⁴² C4310811 CN239566

MeSH ⁴⁴ D017545

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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

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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
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:

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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

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Drugs & Therapeutics for Meester-Loeys Syndrome

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

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Genetic Tests for Meester-Loeys Syndrome

Genetic tests related to Meester-Loeys Syndrome:

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

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Anatomical Context for Meester-Loeys Syndrome

MalaCards organs/tissues related to Meester-Loeys Syndrome:

⁴¹

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

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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 )	Breysse N...Sarda X	2018
2	Comprehensive Analysis of the Value of Single Versus Multiple Year (Season) Crop Residue Data for Establishment of Maximum Residue Levels (MRLs). ( 28045516 )	Fleming CR...Tiu C	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 )	Sawant D...Hate M	2017
4	The role of validated analytical methods in JECFA drug assessments and evaluation for recommending MRLs. ( 27443214 )	Boison JO	2016
5	Use of Combined Uncertainty of Pesticide Residue Results for Testing Compliance with Maximum Residue Limits (MRLs). ( 25658668 )	Farkas Z...Ambrus ?	2015
6	Optimization of gas chromatography-single quadrupole mass spectrometry conditions for multiresidue analysis of pesticides in grapes in compliance to EU-MRLs. ( 23265529 )	Banerjee K...Adsule PG	2013
7	Investigation into the experimental protocols required to determine maximum residue limits (MRLs) in honey. ( 22851368 )	Fussell RJ...Sharman M	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 )	Dornseiffen JW...van Eck WH	2000
10	Microbiological endpoint testing for veterinary antimicrobials--setting MRLs. ( 7737607 )	Rumney C...Rowland I	1995
11	Horses and MRLs. ( 8171818 )	Cole MJ	1994

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Genes for Meester-Loeys Syndrome

Genes related to Meester-Loeys Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BGN	Biglycan	Protein Coding	1027.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27632686 20301299

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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

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Expression for Meester-Loeys Syndrome

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

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Pathways for Meester-Loeys Syndrome

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GO Terms for Meester-Loeys Syndrome

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Meester-Loeys Syndrome (MRLS)

Aliases & Classifications for Meester-Loeys Syndrome

MalaCards integrated aliases for Meester-Loeys Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Meester-Loeys Syndrome

Related Diseases for Meester-Loeys Syndrome

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

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

Symptoms & Phenotypes for Meester-Loeys Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Meester-Loeys Syndrome:

Drugs & Therapeutics for Meester-Loeys Syndrome

Genetic Tests for Meester-Loeys Syndrome

Genetic tests related to Meester-Loeys Syndrome:

Anatomical Context for Meester-Loeys Syndrome

MalaCards organs/tissues related to Meester-Loeys Syndrome:

Publications for Meester-Loeys Syndrome

Articles related to Meester-Loeys Syndrome:

Genes for Meester-Loeys Syndrome

Genes related to Meester-Loeys Syndrome (1 elite genes):

Variations for Meester-Loeys Syndrome

ClinVar genetic disease variations for Meester-Loeys Syndrome:

Expression for Meester-Loeys Syndrome

Pathways for Meester-Loeys Syndrome

GO Terms for Meester-Loeys Syndrome

Sources for Meester-Loeys Syndrome