WMS
MCID: WLL002
MIFTS: 38

Weill-Marchesani Syndrome (WMS) malady

Summaries for Weill-Marchesani Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 geleophysic dysplasia and marfan syndrome. 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 skin, heart and thyroid, 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:47 613195,608328,277600

GeneReviews summary for weill-ms

Aliases & Classifications for Weill-Marchesani Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 20GeneTests, 47OMIM, 35MeSH
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Aliases & Descriptions:

weill-marchesani syndrome 8 19 43 21 10 61
spherophakia-brachymorphia syndrome 43 21
marchesani-weill syndrome 8 20
gemss syndrome 8 61
wms 43 21
weill-marchesani syndrome, autosomal recessive 61
mesodermal dysmorphodystrophy, congenital 8
mesodermal dysmorphodystrophy congenital 43
congenital mesodermal dysmorphodystrophy 21
spherophakia brachymorphia syndrome 8
congenital mesodermal dystrophy 8
marchesani syndrome 21
wm syndrome 43


External Ids:

Disease Ontology8 DOID:0050475
MeSH35 D056846

Related Diseases for Weill-Marchesani Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the weill-marchesani syndrome 1, recessive family:

weill-marchesani syndrome weill-marchesani-like 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
1geleophysic dysplasia30.7ADAMTSL2
2marfan syndrome30.6FBN1, FBN2
3brachydactyly30.0ADAMTSL2
4weill-marchesani syndrome 1, recessive10.7
5weill-marchesani syndrome 3, recessive10.5
6weill-marchesani syndrome 2, dominant10.5
7macroglobulinemia10.5
8n syndrome10.4
9micro syndrome10.4
10char syndrome10.4
11acromicric dysplasia10.4
12adamts10-related weill-marchesani syndrome10.4
13fbn1-related weill-marchesani syndrome10.4
14ltbp2-related weill-marchesani syndrome10.4
15macroglobulinemia, waldenstrom, somatic10.3
16retinitis pigmentosa10.3
17aortic disease10.3
18ectopia lentis, isolated autosomal recessive10.3
19bod syndrome10.3
20megalocornea - spherophakia - secondary glaucoma10.3
21geleophysic dysplasia 110.3
22williams syndrome10.2
23waldenstrom macroglobulinemia10.2
24well-differentiated endocrine neoplasm of the corpus uteri10.1
25lymphoplasmacytic lymphoma10.1
26dwarfism10.0
27short stature10.0FBN1
28aortic aneurysm10.0FBN1
29myopia 610.0FBN1
30dermatitis herpetiformis10.0FBN1
31weill-marchesani-like syndrome10.0ADAMTS17
32ectopia lentis, familial10.0SUOX, FBN1
33congenital contractural arachnodactyly10.0FBN2
34dental pulp calcification10.0FBN2
35tracheal stenosis10.0ADAMTSL2, TBRG1
36lens subluxation10.0SUOX, FBN1
37glaucoma10.0FBN1, LTBP2, LTBP3
38aneurysm disease10.0FBN2, FBN1
39connective tissue disease10.0FBN1, TNF
40ankylosing spondylitis10.0FBN1, TNF
41cryoglobulinemia10.0
42werner syndrome10.0
43polydactyly10.0
44wilson disease10.0
45splenic marginal zone lymphoma10.0
46triphalangeal thumb polysyndactyly syndrome10.0
47triphalangeal thumb10.0
48brain injury10.0
49traumatic brain injury10.0

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



Diseases related to weill-marchesani syndrome

Clinical Features for Weill-Marchesani Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

613195,608328,277600

Drugs & Therapeutics for Weill-Marchesani Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Weill-Marchesani Syndrome

Drug clinical trials:

Search ClinicalTrials for Weill-Marchesani Syndrome

Search NIH Clinical Center for Weill-Marchesani Syndrome

Search CenterWatch for Weill-Marchesani Syndrome

Genetic Tests for Weill-Marchesani Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

33
Skin, Heart, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5ADAMTS20, LTBP1, FBN2, FBN1, TNF

Publications for Weill-Marchesani Syndrome

Sources:
51PubMed
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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
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
3
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. (23897642)
2013
4
Weill- Marchesani syndrome: a rare case report. (22864047)
2012
5
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
6
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. (22539340)
2012
7
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. (22013276)
2011
8
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. (21687566)
2011
9
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. (22606482)
2011
10
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. (22569327)
2010
11
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. (19465288)
2009
12
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. (19743786)
2009
13
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
14
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
15
Cardiac findings in Weill-Marchesani syndrome. (17663475)
2007
16
A case of Weill-Marchesani syndrome with inversion of chromosome 15. (18063893)
2007
17
Homatropine and psychosis in Weill-Marchesani syndrome. (16832313)
2006
18
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. (16749567)
2006
19
Central corneal thickness in patients with Weill-Marchesani syndrome. (16935606)
2006
20
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. (16633042)
2006
21
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (16494613)
2006
22
Weill-Marchesani syndrome. (16761646)
2006
23
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. (16155673)
2005
24
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
25
Two patients with Weill-Marchesani syndrome and mitral stenosis. (17670292)
2004
26
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (15368195)
2004
27
Anesthetic management of a patient with Weill-Marchesani syndrome. (12648208)
2003
28
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (12525539)
2003
29
Airway management of a patient with Weill-Marchesani syndrome. (12770659)
2003
30
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. (11941487)
2002
31
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. (11149617)
2000
32
Weill-Marchesani syndrome in three generations. (10707143)
1999
33
Capsular tension ring in a patient with Weill-Marchesani syndrome. (9719980)
1998
34
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. (9826054)
1998
35
Weill-Marchesani syndrome: report of an unusual case. (9075633)
1997
36
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. (8914744)
1996
37
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. (8913132)
1996
38
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. (7643490)
1995
39
Weill-Marchesani Syndrome (20301293)
1993
40
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. (18079651)
1992
41
Histology of the lens in the Weill-Marchesani syndrome. (2285689)
1990
42
The Weill-Marchesani syndrome: report of two cases and a review. (2277226)
1990
43
Weill-Marchesani syndrome in mother and son. (3493095)
1986
44
Weill-Marchesani syndrome with bilateral angle-closure glaucoma. (4032187)
1985
45
Median nerve compression in Weill-Marchesani syndrome. (6739588)
1984
46
Treatment of the Weill-Marchesani syndrome. (6455083)
1981
47
Ocular complications in the Weill-Marchesani syndrome. (4812097)
1974
48
Weill-Marchesani syndrome. Growth hormone, thyroid and chromosome studies. (4203835)
1973
49
Weill-Marchesani syndrome. (5173776)
1971
50
Marfan's syndrome and the Weill-Marchesani syndrome in the S. family. (13803457)
1959

Genetic Variations for Weill-Marchesani Syndrome

Expression for genes affiliated with Weill-Marchesani Syndrome

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

Search GEO for disease gene expression data for Weill-Marchesani Syndrome.

Pathways for genes affiliated with Weill-Marchesani Syndrome

Sources:
38NCBI BioSystems Database, 52QIAGEN, 54Reactome
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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
Hide members
9.5MMP25, TNF
2
Hide members
9.0LTBP3, LTBP2, LTBP1, TBRG1
3
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9.0TBRG1, LTBP1, LTBP2, LTBP3
4
Hide members
8.7LTBP3, LTBP2, LTBP1, FBN2, FBN3, FBN1
5
Hide members
8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
6
Hide members
8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
7
Hide members
8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
8
Hide members
8.6TNF, TBRG1, LTBP1, LTBP2, LTBP3
9
Hide members
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

Sources:
45Novoseek
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Compounds related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tgf beta1459.5LTBP1, FBN1, TNF

GO Terms for genes affiliated with Weill-Marchesani Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet