MCID: WLL002
MIFTS: 46

Weill-Marchesani Syndrome malady

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

Aliases & Classifications for Weill-Marchesani Syndrome

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 10 21 45 23 12 51 65 36
Marchesani-Weill Syndrome 10 22 23
Spherophakia-Brachymorphia Syndrome 45 23
Gemss Syndrome 10 65
Wms 45 23
Weill-Marchesani Syndrome, Autosomal Recessive 65
Mesodermal Dysmorphodystrophy, Congenital 10
Mesodermal Dysmorphodystrophy Congenital 45
 
Congenital Mesodermal Dysmorphodystrophy 23
Brachymorphy with Spherophakia Syndrome 23
Spherophakia Brachymorphia Syndrome 10
Brachydactyly-Spherophakia Syndrome 23
Congenital Mesodermal Dystrophy 10
Spherophakia - Brachymorphia 51
Marchesani Syndrome 23
Wm Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0050475
ICD9CM29 759.89
MeSH36 D056846
Orphanet51 3449
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D056846
UMLS via Orphanet66 C0265313

Summaries for Weill-Marchesani Syndrome

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NIH Rare Diseases:45 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 weill-marchesani syndrome 3, recessive and microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 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 Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, eye and bone.

Disease Ontology:10 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference:23 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

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 top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome 3, recessive31.3LTBP2, LTBP3
2microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma30.6LTBP2, LTBP3
3traumatic brain injury29.9ADAMTS10, ADAMTS17, ADAMTSL2
4weill-marchesani syndrome 1, recessive10.9
5weill-marchesani syndrome 2, dominant10.9
6ltbp2-related weill-marchesani syndrome10.7
7geleophysic dysplasia10.6
8adamts10-related weill-marchesani syndrome10.6
9fbn1-related weill-marchesani syndrome10.6
10macroglobulinemia10.5
11weill-marchesani-like syndrome10.5
12retinitis10.5
13ectopia lentis, isolated, autosomal recessive10.4
14geleophysic dysplasia 110.4
15marfan syndrome10.4
16acromicric dysplasia10.4
17retinitis pigmentosa10.4
18aortic disease10.4
19thyroiditis10.4
20glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome10.4
21endotheliitis10.4
22waldenstrom macroglobulinemia10.3
23macroglobulinemia, waldenstrom 110.3
24c3 deficiency10.2ADAMTS10, LTBP2
25webb-dattani syndrome10.2ADAMTS17, LTBP2
26phagocyte bactericidal dysfunction10.2FBN1, LTBP2
27lymphoplasmacytic lymphoma10.2
28blood protein disease10.2
29hypersensitivity reaction type iv disease10.2
30lymphatic system cancer10.2
31lymphatic system disease10.2
32myeloma10.2
33plasma cell neoplasm10.2
34vascular cancer10.2
35vascular hemostatic disease10.2
36factor v leiden thrombophilia10.2
37lymphatic neoplasm10.2
38childhood brain meningioma10.2FBN1, FBN2
39noonan syndrome 210.1FBN1, TNF
40genetic prion diseases10.1ADAMTSL2, FBN1
41brachydactyly10.1
42dwarfism10.1
43glaucoma 1, open angle, e10.1ADAMTS10, LTBP2
44popliteal pterygium syndrome 110.1FBN1, FBN2
45myositis10.1ADAMTS10, ADAMTS17, FBN1
46isolated growth hormone deficiency10.1ADAMTSL4, FBN1
47aplastic anemia10.1
48macroglobulinemia, waldenstrom 210.1
49williams-beuren syndrome10.1
50multiple myeloma10.1

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:

 51 (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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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 Syndrome22 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

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MalaCards organs/tissues related to Weill-Marchesani Syndrome:

33
Skin, Eye, Bone, Heart, Endothelial, Thyroid

Animal Models for Weill-Marchesani Syndrome or affiliated genes

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Publications for Weill-Marchesani Syndrome

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Articles related to Weill-Marchesani Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Golden ring in the eyes: Weill-Marchesani syndrome. (26009607)
2015
2
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. (25571963)
2015
3
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. (25469541)
2014
4
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (24940034)
2014
5
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
6
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
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
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. (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. (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:

5
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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.3FBN1, FBN2, FBN3, LTBP2, LTBP3
2
Show member pathways
8.3FBN1, FBN2, FBN3, LTBP2, LTBP3
3
Show member pathways
8.3FBN1, FBN2, FBN3, LTBP2, LTBP3
4
Show member pathways
8.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4

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:000152710.0ADAMTS10, FBN1, FBN2
2proteinaceous extracellular matrixGO:00055786.7ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1
3extracellular matrixGO:00310126.5ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1, FBN2

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

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.4FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.3FBN1, FBN2
3protein O-linked fucosylationGO:00360669.8ADAMTS13, ADAMTSL4
4regulation of cellular response to growth factor stimulusGO:00902879.4FBN1, FBN2, FBN3
5proteolysisGO:00065088.1ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4
6extracellular matrix organizationGO:00301987.0ADAMTSL2, ADAMTSL4, FBN1, FBN2, LTBP3, TNF

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:00300239.4FBN1, FBN2
2extracellular matrix structural constituentGO:00052019.3FBN1, FBN2, FBN3
3metalloendopeptidase activityGO:00042228.7ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4
4peptidase activityGO:00082338.5ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4
5calcium ion bindingGO:00055097.7ADAMTS13, FBN1, FBN2, FBN3, LTBP2, LTBP3

Sources for Weill-Marchesani Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet