WMS
MCID: WLL002
MIFTS: 43

Weill-Marchesani Syndrome (WMS) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Eye diseases, Bone diseases categories

Summaries for Weill-Marchesani Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 p70S6K Signaling and Degradation of the extracellular matrix. Affiliated tissues include eye, bone and heart, and related mouse phenotype limbs/digits/tail.

Genetics Home Reference:22 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:48 613195,608328,277600

GeneReviews summary for weill-ms

Aliases & Classifications for Weill-Marchesani Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 63UMLS, 21GeneTests, 48OMIM, 36MeSH
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Classifications:



Aliases & Descriptions:

weill-marchesani syndrome 9 20 44 22 11 63
spherophakia-brachymorphia syndrome 44 22
marchesani-weill syndrome 9 21
gemss syndrome 9 63
wms 44 22
weill-marchesani syndrome, autosomal recessive 63
mesodermal dysmorphodystrophy, congenital 9
mesodermal dysmorphodystrophy congenital 44
congenital mesodermal dysmorphodystrophy 22
spherophakia brachymorphia syndrome 9
congenital mesodermal dystrophy 9
marchesani syndrome 22
wm syndrome 44


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Disease Ontology9 DOID:0050475
MeSH36 D056846

Related Diseases for Weill-Marchesani Syndrome

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18GeneCards, 19GeneDecks
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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 44)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma31.1LTBP3, LTBP2, FBN1
2geleophysic dysplasia31.0ADAMTSL2
3geleophysic dysplasia 130.6ADAMTSL2
4marfan syndrome30.5FBN2, FBN1
5weill-marchesani syndrome 1, recessive10.7
6weill-marchesani syndrome 3, recessive10.6
7weill-marchesani syndrome 2, dominant10.6
8macroglobulinemia10.5
9retinitis10.5
10adamts10-related weill-marchesani syndrome10.5
11fbn1-related weill-marchesani syndrome10.5
12ltbp2-related weill-marchesani syndrome10.5
13retinitis pigmentosa10.3
14aortic disease10.3
15thyroiditis10.3
16acromicric dysplasia10.3
17ectopia lentis, isolated autosomal recessive10.3
18megalocornea - spherophakia - secondary glaucoma10.3
19macroglobulinemia, waldenstrom, somatic10.3
20well-differentiated endocrine neoplasm of the corpus uteri10.1
21williams syndrome10.1
22waldenstrom macroglobulinemia10.1
23calcinosis10.1FBN1
24congenital contractural arachnodactyly10.1FBN2
25brachydactyly10.1
26dwarfism10.1
27tracheal stenosis10.0TBRG1, ADAMTSL2
28weill-marchesani-like syndrome10.0ADAMTS17
29mitral valve prolapse10.0FBN1, FBN2
30ankylosing spondylitis10.0TNF, FBN1
31connective tissue disease10.0TNF, FBN1
32aneurysm10.0FBN1, FBN2
33cryoglobulinemia10.0
34polydactyly10.0
35wilson disease10.0
36splenic marginal zone lymphoma10.0
37melanoma10.0
38myeloma10.0
39neuropathy10.0
40non-hodgkin lymphoma10.0
41schizophrenia10.0
42triphalangeal thumb10.0
43brain injury10.0
44traumatic brain injury10.0

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



Diseases related to weill-marchesani syndrome

Symptoms for Weill-Marchesani Syndrome

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48OMIM
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Clinical features from OMIM:

613195,608328,277600

Drugs & Therapeutics for Weill-Marchesani Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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

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21GeneTests
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Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome21 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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34MalaCards
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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

34
Eye, Bone, Heart, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ADAMTS20, TNF, FBN1, FBN2

Publications for Weill-Marchesani Syndrome

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53PubMed
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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 51)
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
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
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. (19743786)
2009
12
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
13
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
14
Cardiac findings in Weill-Marchesani syndrome. (17663475)
2007
15
A case of Weill-Marchesani syndrome with inversion of chromosome 15. (18063893)
2007
16
Homatropine and psychosis in Weill-Marchesani syndrome. (16832313)
2006
17
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. (16749567)
2006
18
Central corneal thickness in patients with Weill-Marchesani syndrome. (16935606)
2006
19
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. (16633042)
2006
20
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (16494613)
2006
21
Weill-Marchesani syndrome. (16761646)
2006
22
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. (16155673)
2005
23
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
24
Two patients with Weill-Marchesani syndrome and mitral stenosis. (17670292)
2004
25
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (15368195)
2004
26
Anesthetic management of a patient with Weill-Marchesani syndrome. (12648208)
2003
27
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (12525539)
2003
28
Airway management of a patient with Weill-Marchesani syndrome. (12770659)
2003
29
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. (14598350)
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. (8635842)
1995
40
Weill-Marchesani Syndrome (20301293)
1993
41
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. (18079651)
1992
42
Histology of the lens in the Weill-Marchesani syndrome. (2285689)
1990
43
The Weill-Marchesani syndrome: report of two cases and a review. (2277226)
1990
44
Weill-Marchesani syndrome in mother and son. (3493095)
1986
45
Weill-Marchesani syndrome with bilateral angle-closure glaucoma. (4032187)
1985
46
Median nerve compression in Weill-Marchesani syndrome. (6739588)
1984
47
Treatment of the Weill-Marchesani syndrome. (6455083)
1981
48
Ocular complications in the Weill-Marchesani syndrome. (4812097)
1974
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

Variations for Weill-Marchesani Syndrome

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Expression for genes affiliated with Weill-Marchesani Syndrome

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2BioGPS, 16Gene 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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51PathCards, 54QIAGEN, 56Reactome
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Pathways related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3LTBP3, LTBP2, TBRG1
2
Show member pathways
8.9FBN2, FBN1, FBN3, LTBP2, LTBP3
3
Show member pathways
8.9LTBP3, LTBP2, FBN3, FBN1, FBN2
4
Show member pathways
8.8TNF, TBRG1, LTBP2, LTBP3
5
Show member pathways
8.8TNF, TBRG1, LTBP2, LTBP3
6
Show member pathways
8.8TNF, TBRG1, LTBP2, LTBP3
7
Show member pathways
8.8TNF, TBRG1, LTBP2, LTBP3
8
Show member pathways
8.8TNF, TBRG1, LTBP2, LTBP3
9
Show member pathways
8.8LTBP3, LTBP2, TBRG1, TNF
10
Show member pathways
8.3FBN2, FBN1, FBN3, TBRG1, LTBP2, LTBP3
11
Show member pathways
7.8FBN2, FBN1, FBN3, TNF, TBRG1, LTBP2

Compounds for genes affiliated with Weill-Marchesani Syndrome

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GO Terms for genes affiliated with Weill-Marchesani Syndrome

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17Gene Ontology
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Cellular components related to Weill-Marchesani Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:0015279.4ADAMTS10, FBN1, FBN2
2basement membraneGO:0056049.4PAPLN, FBN1
3extracellular matrixGO:0310128.8FBN1, ADAMTS20, ADAMTS10, LTBP2, LTBP3
4extracellular spaceGO:0056158.6FBN1, TNF, ADAMTS20, LTBP2
5proteinaceous extracellular matrixGO:0055787.9LTBP2, ADAMTSL2, ADAMTS20, ADAMTS17, FBN3, FBN1

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

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:0355839.8FBN1, FBN2
2extracellular matrix organizationGO:0301987.8LTBP3, ADAMTS20, ADAMTSL4, TNF, FBN1, FBN2

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.6ADAMTSL4, TNF
2extracellular matrix structural constituentGO:0052019.5FBN3, FBN1, FBN2
3calcium ion bindingGO:0055098.8FBN2, FBN1, FBN3, LTBP2, LTBP3
4metalloendopeptidase activityGO:0042227.8ADAMTSL2, PAPLN, ADAMTSL4, ADAMTS17, ADAMTS20, ADAMTS10
5zinc ion bindingGO:0082707.7ADAMTSL2, ADAMTS10, ADAMTS20, ADAMTS17, PAPLN

Products for genes affiliated with Weill-Marchesani Syndrome

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Sources for Weill-Marchesani Syndrome

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4CDC
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26ICD10
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