WMS
MCID: WLL002
MIFTS: 46

Weill-Marchesani Syndrome (WMS) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Eye diseases, Bone diseases categories
Download this MalaCard

Summaries for Weill-Marchesani Syndrome

About this section


Fully expand this MalaCard
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 based summary: Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to geleophysic dysplasia and geleophysic dysplasia 1. 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.

Disease Ontology:8 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

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.

Descriptions from OMIM:46 277600,614819,613195,608328

GeneReviews summary for weill-ms

Aliases & Classifications for Weill-Marchesani Syndrome

About this section

Weill-Marchesani Syndrome, Aliases & Descriptions:

Name: Weill-Marchesani Syndrome 8 19 42 21 10 62
Spherophakia-Brachymorphia Syndrome 42 21
Marchesani-Weill Syndrome 8 20
Gemss Syndrome 8 62
Wms 42 21
Weill-Marchesani Syndrome, Autosomal Recessive 62
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


Classifications:



External Ids:

Disease Ontology8 DOID:0050475
MeSH34 D056846
ICD9CM27 759.89

Related Diseases for Weill-Marchesani Syndrome

About this section

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 42)
idRelated DiseaseScoreTop Affiliating Genes
1geleophysic dysplasia31.5ADAMTSL2
2geleophysic dysplasia 131.1ADAMTSL2
3marfan syndrome30.8FBN2, FBN1
4weill-marchesani syndrome 1, recessive10.7
5weill-marchesani syndrome 3, recessive10.6
6weill-marchesani syndrome 2, dominant10.6
7macroglobulinemia10.5
8retinitis10.5
9adamts10-related weill-marchesani syndrome10.5
10fbn1-related weill-marchesani syndrome10.5
11ltbp2-related weill-marchesani syndrome10.5
12calcinosis10.4FBN1
13congenital contractural arachnodactyly10.3FBN2
14retinitis pigmentosa10.3
15aortic disease10.3
16thyroiditis10.3
17acromicric dysplasia10.3
18ectopia lentis, isolated autosomal recessive10.3
19megalocornea - spherophakia - secondary glaucoma10.3
20macroglobulinemia, waldenstrom, somatic10.3
21tracheal stenosis10.2TBRG1, ADAMTSL2
22weill-marchesani-like syndrome10.2ADAMTS17
23mitral valve prolapse10.2FBN1, FBN2
24waldenstrom macroglobulinemia10.1
25williams syndrome10.1
26ankylosing spondylitis10.1TNF, FBN1
27connective tissue disease10.1TNF, FBN1
28brachydactyly10.1
29dwarfism10.1
30aneurysm10.0FBN1, FBN2
31brain injury10.0
32non-hodgkin lymphoma10.0
33schizophrenia10.0
34splenic marginal zone lymphoma10.0
35traumatic brain injury10.0
36wilson disease10.0
37cryoglobulinemia10.0
38polydactyly10.0
39melanoma10.0
40myeloma10.0
41neuropathy10.0
42triphalangeal thumb10.0

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



Diseases related to weill-marchesani syndrome

Symptoms for Weill-Marchesani Syndrome

About this section


Clinical features from OMIM:

277600,614819,613195,608328

Drugs & Therapeutics for Weill-Marchesani Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Weill-Marchesani Syndrome

Search NIH Clinical Center for Weill-Marchesani Syndrome

Genetic Tests for Weill-Marchesani Syndrome

About this section

Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome20 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

About this section

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

32
Eye, Bone, Heart, Skin, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ADAMTS20, TNF, FBN1, FBN2

Publications for Weill-Marchesani Syndrome

About this section

Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (24940034)
2014
2
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
3
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
4
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. (23897642)
2013
5
Weill- Marchesani syndrome: a rare case report. (22864047)
2012
6
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
7
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. (22013276)
2011
8
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. (22569327)
2010
9
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. (19465288)
2009
10
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. (19743786)
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
Central corneal thickness in patients with Weill-Marchesani syndrome. (16935606)
2006
18
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. (16633042)
2006
19
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (16494613)
2006
20
Weill-Marchesani syndrome. (16761646)
2006
21
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. (16155673)
2005
22
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
23
Two patients with Weill-Marchesani syndrome and mitral stenosis. (17670292)
2004
24
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (15368195)
2004
25
Anesthetic management of a patient with Weill-Marchesani syndrome. (12648208)
2003
26
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (12525539)
2003
27
Airway management of a patient with Weill-Marchesani syndrome. (12770659)
2003
28
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. (14598350)
2003
29
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. (11941487)
2002
30
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. (11149617)
2000
31
Weill-Marchesani syndrome in three generations. (10707143)
1999
32
Capsular tension ring in a patient with Weill-Marchesani syndrome. (9719980)
1998
33
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. (9826054)
1998
34
Weill-Marchesani syndrome: report of an unusual case. (9075633)
1997
35
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. (8914744)
1996
36
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. (8913132)
1996
37
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. (7643490)
1995
38
Weill-Marchesani syndrome. (8635842)
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. (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

Variations for Weill-Marchesani Syndrome

About this section

Expression for genes affiliated with Weill-Marchesani Syndrome

About this section
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

About this section

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

About this section

GO Terms for genes affiliated with Weill-Marchesani Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Weill-Marchesani Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet