MCID: WLL002
MIFTS: 45

Weill-Marchesani Syndrome malady

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

Summaries for Weill-Marchesani Syndrome

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NIH Rare Diseases:41 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 marchesani-weill syndrome, is related to geleophysic dysplasia and geleophysic dysplasia 1, and has symptoms including glaucoma, myopia and brachydactyly syndrome. An important gene associated with Weill-Marchesani Syndrome is ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10), and among its related pathways are p70S6K Signaling and Elastic fibre formation. Affiliated tissues include skin, eye and bone, and related mouse phenotype limbs/digits/tail.

Disease Ontology:9 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.

GeneReviews summary for weill-ms

Aliases & Classifications for Weill-Marchesani Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 60UMLS, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Weill-Marchesani Syndrome, Aliases & Descriptions:

Name: Weill-Marchesani Syndrome 9 19 41 21 11 47 60
Marchesani-Weill Syndrome 9 20 21
Spherophakia-Brachymorphia Syndrome 41 21
Spherophakia - Brachymorphia 41 47
Gemss Syndrome 9 60
Wms 41 21
Weill-Marchesani Syndrome, Autosomal Recessive 60
Mesodermal Dysmorphodystrophy, Congenital 9
 
Mesodermal Dysmorphodystrophy Congenital 41
Congenital Mesodermal Dysmorphodystrophy 21
Brachymorphy with Spherophakia Syndrome 21
Spherophakia Brachymorphia Syndrome 9
Brachydactyly-Spherophakia Syndrome 21
Congenital Mesodermal Dystrophy 9
Marchesani Syndrome 21
Wm Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050475
MeSH33 D056846
ICD9CM27 759.89
Orphanet47 3449
MESH via Orphanet34 D056846
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C0265313

Related Diseases for Weill-Marchesani Syndrome

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Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 3, Recessive
Weill-Marchesani Syndrome 2, Dominant 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1geleophysic dysplasia31.4ADAMTSL2
2geleophysic dysplasia 131.1ADAMTSL2
3marfan syndrome30.7FBN2, FBN1
4weill-marchesani syndrome 1, recessive10.8
5weill-marchesani syndrome 3, recessive10.8
6weill-marchesani syndrome 2, dominant10.8
7adamts10-related weill-marchesani syndrome10.6
8fbn1-related weill-marchesani syndrome10.6
9ltbp2-related weill-marchesani syndrome10.6
10macroglobulinemia10.5
11retinitis10.5
12calcinosis10.4FBN1
13contractural arachnodactyly, congenital10.3FBN2
14microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.3
15acromicric dysplasia10.3
16ectopia lentis, isolated, autosomal recessive10.3
17retinitis pigmentosa10.3
18aortic disease10.3
19thyroiditis10.3
20glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome10.3
21endotheliitis10.3
22macroglobulinemia, waldenstrom, somatic10.3
23tracheal stenosis10.2TBRG1, ADAMTSL2
24weill-marchesani-like syndrome10.2ADAMTS17
25orthostatic intolerance10.2FBN1, FBN2
26williams-beuren syndrome10.1
27waldenstrom macroglobulinemia10.1
28spondyloarthropathy 110.1TNF, FBN1
29connective tissue disease10.1TNF, FBN1
30brachydactyly10.1
31dwarfism10.1
32schizophrenia10.0
33wilson disease10.0
34hodgkin lymphoma10.0
35brain injury10.0
36splenic marginal zone lymphoma10.0
37traumatic brain injury10.0
38cryoglobulinemia10.0
39polydactyly10.0
40melanoma10.0
41myeloma10.0
42neuropathy10.0
43triphalangeal thumb10.0
44polysyndactyly10.0
45aneurysm10.0FBN1, FBN2

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:

 47 (show all 19)
  • glaucoma
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • myopia
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • lens dislocation/luxation/subluxation/ectopia lentis
  • thick skin/pachydermia/orange skin
  • congenital cardiac anomaly/malformation/cardiopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • pulmonary valve atresia/stenosis/narrowing
  • ventricular septal defect/interventricular communication
  • intellectual deficit/mental/psychomotor retardation/learning disability

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

Drugs & Therapeutics for Weill-Marchesani Syndrome

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Drug clinical trials:

Search ClinicalTrials for Weill-Marchesani Syndrome

Search NIH Clinical Center for 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 Syndrome20 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

31
Skin, Eye, Bone, Heart, Thyroid, Endothelial

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7ADAMTS20, TNF, FBN1, FBN2

Publications for Weill-Marchesani Syndrome

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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. (25571963)
2015
2
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. (25469541)
2014
3
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (24940034)
2014
4
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
5
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
6
Weill- Marchesani syndrome: a rare case report. (22864047)
2012
7
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
8
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. (22013276)
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
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

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Clinvar genetic disease variations for Weill-Marchesani Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS10NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter)single nucleotide variantPathogenicrs121434357GRCh37Chr 19, 8665913: 8665913
2ADAMTS10NM_030957.3(ADAMTS10): c.1190+1G> Asingle nucleotide variantPathogenicrs431825170GRCh37Chr 19, 8661190: 8661190
3ADAMTS10NM_030957.3(ADAMTS10): c.810+1G> Asingle nucleotide variantPathogenicrs387906266GRCh37Chr 19, 8665811: 8665811
4ADAMTS10NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr)single nucleotide variantPathogenicrs121434358GRCh37Chr 19, 8670523: 8670523
5ADAMTS10NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter)single nucleotide variantPathogenicrs121434359GRCh37Chr 19, 8661959: 8661959
6ADAMTS10NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp)single nucleotide variantPathogenicrs267606636GRCh37Chr 19, 8657681: 8657681
7ADAMTS10NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys)single nucleotide variantPathogenicrs267606637GRCh37Chr 19, 8654186: 8654186
8LTBP2NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met)single nucleotide variantPathogenicrs137854856GRCh37Chr 14, 74975430: 74975430

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

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TBRG1, LTBP2, LTBP3
2
Show member pathways
8.9FBN2, FBN1, FBN3, LTBP2, LTBP3
3
Show member pathways
8.9LTBP3, LTBP2, FBN1, FBN2, FBN3
4
Show member pathways
8.7TBRG1, LTBP2, LTBP3, TNF
5
Show member pathways
8.7LTBP3, LTBP2, TBRG1, TNF
6
Show member pathways
8.7LTBP3, LTBP2, TNF, TBRG1
7
Show member pathways
8.7LTBP3, LTBP2, TBRG1, TNF
8
Show member pathways
8.7TNF, TBRG1, LTBP2, LTBP3
9
Show member pathways
8.7LTBP3, TNF, LTBP2, TBRG1
10
Show member pathways
8.3LTBP3, FBN2, FBN1, FBN3, TBRG1, LTBP2
11
Show member pathways
7.7FBN1, FBN3, TNF, TBRG1, LTBP2, LTBP3

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

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:00015279.4ADAMTS10, FBN2, FBN1
2basement membraneGO:00056049.4FBN1, PAPLN
3extracellular matrixGO:00310128.8LTBP2, FBN1, ADAMTS10, ADAMTS20, LTBP3
4extracellular spaceGO:00056158.6LTBP2, ADAMTS20, TNF, FBN1
5proteinaceous extracellular matrixGO:00055787.9ADAMTS17, FBN2, LTBP2, ADAMTSL2, ADAMTS20, FBN1

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

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:00355839.8FBN1, FBN2
2extracellular matrix organizationGO:00301987.8LTBP3, ADAMTS20, ADAMTSL4, TNF, FBN1, FBN2

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.6TNF, ADAMTSL4
2extracellular matrix structural constituentGO:00052019.5FBN2, FBN1, FBN3
3calcium ion bindingGO:00055098.8LTBP3, LTBP2, FBN3, FBN1, FBN2
4metalloendopeptidase activityGO:00042227.8ADAMTSL2, ADAMTS10, ADAMTS20, ADAMTS17, ADAMTSL4, PAPLN
5zinc ion bindingGO:00082707.7ADAMTS17, ADAMTS20, ADAMTS10, ADAMTSL2, PAPLN

Products for genes affiliated with Weill-Marchesani Syndrome

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Sources for Weill-Marchesani Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet