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 autoimmune disease and autoimmune disease 1. An important gene associated with Meester-Loeys Syndrome is BGN (Biglycan). Affiliated tissues include skin, and related phenotypes are bifid uvula and malar flattening

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 53)

#	Related Disease	Score
1	autoimmune disease	10.2
2	autoimmune disease 1	10.2
3	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
4	sialadenitis	10.2
5	lupus erythematosus	10.2
6	systemic lupus erythematosus	10.2
7	arthritis	10.1
8	glomerulonephritis	10.1
9	vasculitis	10.1
10	autoimmune lymphoproliferative syndrome	10.0
11	lymphoproliferative syndrome	10.0
12	pancreatitis	10.0
13	collagen disease	9.9
14	autoimmune pancreatitis	9.9
15	skin disease	9.9
16	dacryoadenitis	9.9
17	rheumatoid arthritis	9.8
18	corneal dystrophy, band-shaped	9.8
19	aging	9.8
20	keratopathy	9.8
21	central nervous system disease	9.8
22	immune-complex glomerulonephritis	9.8
23	kidney disease	9.8
24	nervous system disease	9.8
25	biliary cirrhosis, primary, 1	9.6
26	osteoporosis	9.6
27	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	9.6
28	complement factor d deficiency	9.6
29	dengue virus	9.6
30	membranous nephropathy	9.6
31	glucocorticoid resistance, generalized	9.6
32	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.6
33	dengue disease	9.6
34	hydrocephalus	9.6
35	primary biliary cirrhosis	9.6
36	cutaneous lupus erythematosus	9.6
37	metabolic acidosis	9.6
38	interstitial nephritis	9.6
39	hydronephrosis	9.6
40	hypersensitivity reaction type iii disease	9.6
41	thrombophilia	9.6
42	dermatitis	9.6
43	auditory system disease	9.6
44	inner ear disease	9.6
45	arthropathy	9.6
46	cochlear disease	9.6
47	myocarditis	9.6
48	peritonitis	9.6
49	muscular dystrophy	9.6
50	autoimmune inner ear disease	9.6

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

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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

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Publications for Meester-Loeys Syndrome

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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	1028.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27632686

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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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