MCID: MST021
MIFTS: 22

Meester-Loeys Syndrome

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 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

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 Top Affiliating Genes
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:



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 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

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

Publications for Meester-Loeys Syndrome

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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