MCID: WLL002
MIFTS: 49

Weill-Marchesani Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Weill-Marchesani Syndrome

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Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 37MeSH, 66UMLS, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 11 22 46 23 24 13 52 37 66
Spherophakia-Brachymorphia Syndrome 46 24 52
Marchesani-Weill Syndrome 11 24 25
Gemss Syndrome 11 66
Wms 46 24
Weill-Marchesani Syndrome, Autosomal Recessive 66
Weill-Marchesani Syndrome, Autosomal Dominant 66
Mesodermal Dysmorphodystrophy, Congenital 11
 
Mesodermal Dysmorphodystrophy Congenital 46
Congenital Mesodermal Dysmorphodystrophy 24
Brachymorphy with Spherophakia Syndrome 24
Spherophakia Brachymorphia Syndrome 11
Brachydactyly-Spherophakia Syndrome 24
Congenital Mesodermal Dystrophy 11
Marchesani Syndrome 24
Wm Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050475
MeSH37 D056846
NCIt43 C85226
Orphanet52 ORPHA3449
SNOMED-CT60 205801004, 2884008
UMLS via Orphanet67 C0265313
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 D056846

Summaries for Weill-Marchesani Syndrome

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NIH Rare Diseases:46 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 weill-marchesani syndrome 2, dominant and weill-marchesani syndrome 1, recessive, and has symptoms including glaucoma, myopia and brachydactyly 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, skin and heart, and related mouse phenotype respiratory system.

Disease Ontology:11 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference:24 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.

Related Diseases for Weill-Marchesani Syndrome

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Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 1, Recessive
Adamts10-Related Weill-Marchesani Syndrome Fbn1-Related Weill-Marchesani Syndrome
Ltbp2-Related Weill-Marchesani Syndrome

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome 2, dominant12.6
2weill-marchesani syndrome 1, recessive12.5
3weill-marchesani syndrome 3, recessive12.5
4ltbp2-related weill-marchesani syndrome12.3
5adamts10-related weill-marchesani syndrome12.2
6fbn1-related weill-marchesani syndrome12.2
7glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome11.3
8waldenstrom macroglobulinemia11.3
9williams-beuren syndrome11.1
10hypoplastic or aplastic tibia with polydactyly10.9
11hemolytic uremic syndrome, atypical 510.5ADAMTS10, LTBP2
12geleophysic dysplasia10.5
13weill-marchesani-like syndrome10.4
14webb-dattani syndrome10.4ADAMTS17, LTBP2
15retinitis10.4
16macroglobulinemia10.3
17posterior uveitis10.3FBN1, LTBP2
18ectopia lentis, isolated, autosomal recessive10.3
19geleophysic dysplasia 110.3
20microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.3
21acromicric dysplasia10.3
22marfan syndrome10.2
23retinitis pigmentosa10.2
24aortic disease10.2
25thyroiditis10.2
26endotheliitis10.2
27spinal cancer10.2FBN1, FBN2
28macroglobulinemia, waldenstrom 110.2
29potato nose10.2FBN1, TNF
30visual epilepsy10.1ADAMTS10, ADAMTS17, FBN1
31genetic prion diseases10.1ADAMTSL2, FBN1
32popliteal pterygium syndrome 110.1FBN1, FBN2
33ectrodactyly and ectodermal dysplasia without cleft lip/palate10.0ADAMTSL4, FBN1
34ectopia lentis, familial9.9FBN1, FBN2, LTBP2
35bile duct signet ring cell carcinoma9.9ADAMTS13, TNF
36benign epilepsy with centrotemporal spikes9.9ADAMTS13, TNF
37ulcer of lower limbs9.9ADAMTS10, ADAMTS17, ADAMTSL2
38alopecia9.8ADAMTS13, TNF
39brain stem angioblastoma9.8ADAMTS13, FBN1, TNF
40poikiloderma with neutropenia9.7FBN1, FBN2
41high pressure neurological syndrome9.6ADAMTS10, ADAMTS17, ADAMTSL2, FBN1
42endemic typhus6.6ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1

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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Symptoms:

 52 (show all 16)
  • glaucoma
  • cataract
  • visual loss
  • thickened skin
  • ectopia lentis
  • brachydactyly syndrome
  • intellectual disability, mild
  • limitation of joint mobility
  • ventricular septal defect
  • pulmonic stenosis
  • aortic valve stenosis
  • mitral regurgitation
  • malformation of the heart and great vessels
  • short stature
  • short thumb
  • severe myopia

HPO human phenotypes related to Weill-Marchesani Syndrome:

(show all 16)
id Description Frequency HPO Source Accession
1 glaucoma hallmark (90%) HP:0000501
2 myopia hallmark (90%) HP:0000545
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 short toe hallmark (90%) HP:0001831
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the lens hallmark (90%) HP:0008063
7 thickened skin typical (50%) HP:0001072
8 ectopia lentis typical (50%) HP:0001083
9 limitation of joint mobility typical (50%) HP:0001376
10 visual impairment occasional (7.5%) HP:0000505
11 cataract occasional (7.5%) HP:0000518
12 ventricular septal defect occasional (7.5%) HP:0001629
13 abnormality of the mitral valve occasional (7.5%) HP:0001633
14 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
15 abnormality of the aortic valve occasional (7.5%) HP:0001646
16 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Weill-Marchesani Syndrome:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome


Cochrane evidence based reviews: weill-marchesani syndrome

Genetic Tests for Weill-Marchesani Syndrome

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Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome25 23 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

34
Eye, Skin, Heart, Bone, Endothelial, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.9ADAMTSL2, FBN1, FBN2, LTBP2, TNF

Publications for Weill-Marchesani Syndrome

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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. (26966104)
2016
2
Golden ring in the eyes: Weill-Marchesani syndrome. (26009607)
2015
3
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. (25571963)
2015
4
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. (25469541)
2014
5
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (24940034)
2014
6
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
7
Weill- Marchesani syndrome: a rare case report. (22864047)
2012
8
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
9
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. (22013276)
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
Central corneal thickness in patients with Weill-Marchesani syndrome. (16935606)
2006
18
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. (16494613)
2006
19
Weill-Marchesani syndrome. (16761646)
2006
20
Homatropine and psychosis in Weill-Marchesani syndrome. (16832313)
2006
21
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. (16749567)
2006
22
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. (16633042)
2006
23
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. (16155673)
2005
24
Two patients with Weill-Marchesani syndrome and mitral stenosis. (17670292)
2004
25
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
26
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (15368195)
2004
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
Anesthetic management of a patient with Weill-Marchesani syndrome. (12648208)
2003
30
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (12525539)
2003
31
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. (11941487)
2002
32
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. (11149617)
2000
33
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. (9826054)
1998
34
Capsular tension ring in a patient with Weill-Marchesani syndrome. (9719980)
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
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
Weill-Marchesani syndrome. Brachymorphism and ectopia lentis. (5928829)
1966

Variations for Weill-Marchesani Syndrome

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Expression for genes affiliated with Weill-Marchesani Syndrome

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

Pathways for genes affiliated with Weill-Marchesani Syndrome

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GO Terms for genes affiliated with Weill-Marchesani Syndrome

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Cellular components related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:00015279.9ADAMTS10, FBN1, FBN2
2extracellular matrixGO:00310128.6ADAMTS10, FBN1, FBN2, FBN3, LTBP2
3proteinaceous extracellular matrixGO:00055786.9ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1, FBN3

Biological processes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.3FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.3FBN1, FBN2
3camera-type eye developmentGO:004301010.1FBN1, FBN2
4extracellular matrix disassemblyGO:002261710.0FBN1, FBN2
5protein O-linked fucosylationGO:00360669.7ADAMTS13, ADAMTSL4
6regulation of cellular response to growth factor stimulusGO:00902879.5FBN1, FBN2, FBN3
7proteolysisGO:00065087.9ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4
8extracellular matrix organizationGO:00301987.9ADAMTSL2, ADAMTSL4, FBN1, FBN2, TNF

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.1FBN1, FBN2
2extracellular matrix structural constituentGO:00052019.6FBN1, FBN2, FBN3
3calcium ion bindingGO:00055098.4ADAMTS13, FBN1, FBN2, FBN3, LTBP2
4metalloendopeptidase activityGO:00042228.4ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4

Sources for Weill-Marchesani Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet