WMS
MCID: WLL002
MIFTS: 40

Weill-Marchesani Syndrome (WMS) malady

Summaries for Weill-Marchesani Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Weill-marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. people with this condition have short stature; short fingers; and limited joint movement, especially of the hands. weill-marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. occasionally patients with this condition have heart defects. in some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the adamts10 or ltpbp2 genes. weill-marchesani syndrome can also have autosomal dominant inheritance, and a fbn1 gene mutation has been found in one family. people with this condition usually need regular eye exams and sometimes need eye surgery. last updated: 10/3/2013

MalaCards: Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to glaucoma and geleophysic dysplasia. An important gene associated with Weill-Marchesani Syndrome is LTBP2 (latent transforming growth factor beta binding protein 2), and among its related pathways are Matrix Metalloproteinases and CREB Pathway. The compound tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related mouse phenotype limbs/digits/tail.

Genetics Home Reference:21 Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

Description from OMIM:46 613195,608328,277600

GeneReviews summary for weill-ms

Aliases & Classifications for Weill-Marchesani Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 60UMLS, 20GeneTests, 46OMIM, 34MeSH
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Aliases & Descriptions:

weill-marchesani syndrome 8 19 42 21 10 60
spherophakia-brachymorphia syndrome 42 21
marchesani-weill syndrome 8 20
gemss syndrome 8 60
wms 42 21
weill-marchesani syndrome, autosomal recessive 60
mesodermal dysmorphodystrophy, congenital 8
mesodermal dysmorphodystrophy congenital 42
congenital mesodermal dysmorphodystrophy 21
spherophakia brachymorphia syndrome 8
congenital mesodermal dystrophy 8
marchesani syndrome 21
wm syndrome 42


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Disease Ontology8 DOID:0050475
MeSH34 D056846

Related Diseases for Weill-Marchesani Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Weill-Marchesani Syndrome 1, Recessive family:

weill-marchesani syndrome Weill-Marchesani-Like Syndrome
Adamts10-Related Weill-Marchesani Syndrome Fbn1-Related Weill-Marchesani Syndrome
Ltbp2-Related Weill-Marchesani Syndrome Weill-Marchesani Syndrome 3, Recessive
Weill-Marchesani Syndrome 2, Dominant

Diseases related to Weill-Marchesani Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma30.9FBN1, LTBP2, LTBP3
2geleophysic dysplasia30.7ADAMTSL2
3marfan syndrome30.4FBN1, FBN2
4brachydactyly30.0ADAMTSL2
5weill-marchesani syndrome 1, recessive10.6
6weill-marchesani syndrome 3, recessive10.5
7weill-marchesani syndrome 2, dominant10.5
8macroglobulinemia10.4
9retinitis10.4
10adamts10-related weill-marchesani syndrome10.4
11fbn1-related weill-marchesani syndrome10.4
12ltbp2-related weill-marchesani syndrome10.4
13macroglobulinemia, waldenstrom, somatic10.3
14retinitis pigmentosa10.3
15aortic disease10.3
16nerve compression syndrome10.3
17thyroiditis10.3
18acromicric dysplasia10.3
19ectopia lentis, isolated autosomal recessive10.3
20megalocornea - spherophakia - secondary glaucoma10.3
21geleophysic dysplasia 110.3
22well-differentiated endocrine neoplasm of the corpus uteri10.1
23lymphoplasmacytic lymphoma10.1
24williams syndrome10.1
25dwarfism10.0
26short stature10.0FBN1
27aortic aneurysm10.0FBN1
28myopia 610.0FBN1
29dermatitis herpetiformis10.0FBN1
30weill-marchesani-like syndrome10.0ADAMTS17
31ectopia lentis, familial10.0SUOX, FBN1
32congenital contractural arachnodactyly10.0FBN2
33dental pulp calcification10.0FBN2
34tracheal stenosis10.0ADAMTSL2, TBRG1
35lens subluxation10.0SUOX, FBN1
36aneurysm disease10.0FBN2, FBN1
37connective tissue disease10.0FBN1, TNF
38ankylosing spondylitis10.0FBN1, TNF
39non-hodgkin lymphoma9.9
40cryoglobulinemia9.9
41werner syndrome9.9
42polydactyly9.9
43wilson disease9.9
44splenic marginal zone lymphoma9.9
45melanoma9.9
46myeloma9.9
47neuropathy9.9
48plasma cell neoplasm9.9
49schizophrenia9.9

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome:



Diseases related to weill-marchesani syndrome

Clinical Features for Weill-Marchesani Syndrome

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46OMIM
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Clinical features from OMIM:

613195,608328,277600

Drugs & Therapeutics for Weill-Marchesani Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Weill-Marchesani Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Weill-Marchesani Syndrome

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Genetic Tests for Weill-Marchesani Syndrome

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20GeneTests
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Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome20 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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32MalaCards
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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

32
Eye, Bone, Heart, Skin, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5ADAMTS20, LTBP1, FBN2, FBN1, TNF

Publications for Weill-Marchesani Syndrome

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50PubMed
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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
2
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. (23897642)
2013
3
Weill- Marchesani syndrome: a rare case report. (22864047)
2012
4
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
5
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. (22539340)
2012
6
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. (22013276)
2011
7
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. (21687566)
2011
8
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. (22606482)
2011
9
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. (22569327)
2010
10
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. (19465288)
2009
11
Functional analysis of an ADAMTS10 signal peptide mutation in Weill- Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. (18567016)
2008
12
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
13
Cardiac findings in Weill-Marchesani syndrome. (17663475)
2007
14
A case of Weill-Marchesani syndrome with inversion of chromosome 15. (18063893)
2007
15
Homatropine and psychosis in Weill-Marchesani syndrome. (16832313)
2006
16
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. (16749567)
2006
17
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. (16633042)
2006
18
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (16494613)
2006
19
Weill-Marchesani syndrome. (16761646)
2006
20
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. (16155673)
2005
21
Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome. (15223607)
2004
22
Two patients with Weill-Marchesani syndrome and mitral stenosis. (17670292)
2004
23
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (15368195)
2004
24
Anesthetic management of a patient with Weill-Marchesani syndrome. (12648208)
2003
25
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (12525539)
2003
26
Airway management of a patient with Weill-Marchesani syndrome. (12770659)
2003
27
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. (14598350)
2003
28
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. (11941487)
2002
29
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. (11149617)
2000
30
Weill-Marchesani syndrome in three generations. (10707143)
1999
31
Capsular tension ring in a patient with Weill-Marchesani syndrome. (9719980)
1998
32
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. (9826054)
1998
33
Weill-Marchesani syndrome: report of an unusual case. (9075633)
1997
34
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. (8914744)
1996
35
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. (8913132)
1996
36
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. (7643490)
1995
37
Weill-Marchesani syndrome. (8635842)
1995
38
Weill-Marchesani Syndrome (20301293)
1993
39
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. (18079651)
1992
40
Histology of the lens in the Weill-Marchesani syndrome. (2285689)
1990
41
The Weill-Marchesani syndrome: report of two cases and a review. (2277226)
1990
42
Weill-Marchesani syndrome in mother and son. (3493095)
1986
43
Weill-Marchesani syndrome with bilateral angle-closure glaucoma. (4032187)
1985
44
Median nerve compression in Weill-Marchesani syndrome. (6739588)
1984
45
Treatment of the Weill-Marchesani syndrome. (6455083)
1981
46
Ocular complications in the Weill-Marchesani syndrome. (4812097)
1974
47
Weill-Marchesani syndrome. Growth hormone, thyroid and chromosome studies. (4203835)
1973
48
Weill-Marchesani syndrome. (5173776)
1971
49
Weill-Marchesani syndrome. Brachymorphism and ectopia lentis. (5928829)
1966
50
Marfan's syndrome and the Weill-Marchesani syndrome in the S. family. (13803457)
1959

Genetic Variations for Weill-Marchesani Syndrome

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Expression for genes affiliated with Weill-Marchesani Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Weill-Marchesani Syndrome

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Pathways for genes affiliated with Weill-Marchesani Syndrome

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37NCBI BioSystems Database, 51QIAGEN, 53Reactome
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Pathways related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5MMP25, TNF
2
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9.0LTBP3, LTBP2, LTBP1, TBRG1
3
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9.0TBRG1, LTBP1, LTBP2, LTBP3
4
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8.7LTBP3, LTBP2, LTBP1, FBN2, FBN3, FBN1
5
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8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
6
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8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
7
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8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
8
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8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
9
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8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
10
Hide members
8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
11
Hide members
8.1FBN1, FBN3, FBN2, LTBP1, LTBP2, LTBP3
12
Hide members
8.0FBN1, FBN3, FBN2, TBRG1, LTBP1, LTBP2
13
Hide members
7.6TNF, FBN1, FBN3, FBN2, TBRG1, LTBP1

Compounds for genes affiliated with Weill-Marchesani Syndrome

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44Novoseek
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Compounds related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tgf beta1449.5LTBP1, FBN1, TNF

GO Terms for genes affiliated with Weill-Marchesani Syndrome

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16Gene Ontology
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Cellular components related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:0015279.5ADAMTS10, FBN2, FBN1
2extracellular matrixGO:0310128.6FBN1, LTBP1, LTBP2, ADAMTS10, ADAMTS20
3proteinaceous extracellular matrixGO:0055787.1ADAMTS20, FBN1, FBN3, FBN2, LTBP1, LTBP2

Biological processes related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:0355839.1FBN1, FBN2, LTBP1
2proteolysisGO:0065088.9ADAMTS20, ADAMTS10, ADAMTS17, MMP25
3extracellular matrix organizationGO:0301987.8ADAMTS20, ADAMTSL4, LTBP3, LTBP1, FBN2, FBN1

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.5LTBP3, LTBP2, LTBP1
2extracellular matrix structural constituentGO:0052019.2FBN1, FBN3, FBN2
3calcium ion bindingGO:0055098.1FBN1, FBN3, FBN2, LTBP1, LTBP2, LTBP3
4zinc ion bindingGO:0082707.7ADAMTS20, ADAMTS10, ADAMTS17, ADAMTSL2, PAPLN, MMP25
5metalloendopeptidase activityGO:0042227.5ADAMTS20, MMP25, PAPLN, ADAMTSL4, ADAMTSL2, ADAMTS17

Products for genes affiliated with Weill-Marchesani Syndrome

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Sources for Weill-Marchesani Syndrome

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25ICD10
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27ICD9CM
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