MCID: WLL002
MIFTS: 50

Weill-Marchesani Syndrome

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

Aliases & Classifications for Weill-Marchesani Syndrome

MalaCards integrated aliases for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 12 23 49 24 55 36 28 41 14 69
Spherophakia-Brachymorphia Syndrome 49 24 55
Gemss Syndrome 12 72 69
Marchesani-Weill Syndrome 12 24
Wms 49 24
Weill-Marchesani Syndrome, Autosomal Recessive 69
Weill-Marchesani Syndrome, Autosomal Dominant 69
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 49
Congenital Mesodermal Dysmorphodystrophy 24
Brachymorphy with Spherophakia Syndrome 24
Spherophakia Brachymorphia Syndrome 12
Brachydactyly-Spherophakia Syndrome 24
Congenital Mesodermal Dystrophy 12
Marchesani Syndrome 24
Wm Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

23
Penetrance The penetrance in those with autosomal recessive wms caused by homozygous adamts10 pathogenic variants is thought to be 100%...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050475
MeSH 41 D056846
NCIt 46 C85226
SNOMED-CT 64 205801004 2884008
Orphanet 55 ORPHA3449
MESH via Orphanet 42 D056846
UMLS via Orphanet 70 C0265313
ICD10 via Orphanet 33 Q87.0
KEGG 36 H00673

Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : 49 Weill-Marchesani syndrome is an inheritedconnective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. An eye lens problem called microspherophakia is characteristic of Weill-Marchesani syndrome. Microspherophakia refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Occasionally patients with this syndrome have heart defects. In some families this syndrome is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTBP2 genes. It can also have autosomal dominant inheritance, and in these cases is caused by a FBN1 gene mutation.  Treatments for Weill-Marchesani syndrome are symptomatic and supportive. People with this condition usually need regular eye exams and sometimes need eye surgery. Last updated: 9/29/2017

MalaCards based summary : Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 1 and weill-marchesani-like syndrome, and has symptoms including glaucoma, cataract and visual loss. An important gene associated with Weill-Marchesani Syndrome is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, skin and heart, and related phenotypes are Decreased viability and Decreased viability

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.

Disease Ontology : 12 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Wikipedia : 72 Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short,... more...

GeneReviews: NBK1114

Related Diseases for Weill-Marchesani Syndrome

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 1 Weill-Marchesani Syndrome 2
Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 3

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 34.7 ADAMTS10 LTBP2
2 weill-marchesani-like syndrome 32.7 ADAMTS17 LTBP2
3 geleophysic dysplasia 30.6 ADAMTSL2 FBN1
4 marfan syndrome 30.1 FBN1 FBN2 LTBP2
5 weill-marchesani syndrome 2 12.8
6 weill-marchesani syndrome 3 12.7
7 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.3
8 acromicric dysplasia 11.3
9 ectopia lentis 2, isolated, autosomal recessive 11.3
10 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.3
11 waldenstrom macroglobulinemia 11.3
12 tibia, hypoplasia or aplasia of, with polydactyly 11.2
13 macroglobulinemia, waldenstrom 1 11.2
14 williams-beuren syndrome 11.2
15 geleophysic dysplasia 1 10.4
16 geleophysic dysplasia 2 10.4
17 retinitis 10.3
18 phacogenic glaucoma 10.2 FBN1 LTBP2
19 marden-walker syndrome 10.2 FBN1 FBN2
20 dental pulp calcification 10.2 FBN1 FBN2
21 retinitis pigmentosa 10.1
22 leber congenital amaurosis 4 10.1
23 acute closed-angle glaucoma 10.1
24 chronic closed-angle glaucoma 10.1
25 cervicitis 10.1
26 aortic disease 10.1
27 thyroiditis 10.1
28 endotheliitis 10.1
29 nontuberculous mycobacterial lung disease 10.1 FBN1 TNF
30 popliteal pterygium syndrome 10.1 FBN1 FBN2
31 inguinal hernia 10.0 ADAMTS6 FBN1
32 myopia 10.0 ADAMTS10 ADAMTS17 FBN1
33 isolated ectopia lentis 9.9 ADAMTSL4 FBN1
34 tracheal stenosis 9.9 ADAMTS10 ADAMTSL2 FBN1
35 tracheal disease 9.9 ADAMTS10 ADAMTS17 ADAMTSL2
36 connective tissue disease 9.8 FBN1 FBN2 TNF
37 orthostatic intolerance 9.7 ADAMTSL4 FBN1
38 peters-plus syndrome 9.5 ADAMTS10 ADAMTSL4

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



Diseases related to Weill-Marchesani Syndrome

Symptoms & Phenotypes for Weill-Marchesani Syndrome

Human phenotypes related to Weill-Marchesani Syndrome:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000501
2 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
3 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
4 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
5 ectopia lentis 55 31 frequent (33%) Frequent (79-30%) HP:0001083
6 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
8 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
9 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
10 pulmonic stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001642
11 aortic valve stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001650
12 mitral regurgitation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001653
13 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
14 short thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009778
15 malformation of the heart and great vessels 55 Frequent (79-30%)
16 severe myopia 55 Very frequent (99-80%)
17 high myopia 31 hallmark (90%) HP:0011003

UMLS symptoms related to Weill-Marchesani Syndrome:


joint stiffness

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.17 ADAMTS17
2 Decreased viability GR00381-A-1 9.17 FBN3 ADAMTS17
3 Decreased viability GR00381-A-2 9.17 FBN3 ADAMTS17
4 Decreased viability GR00381-A-3 9.17 FBN3 ADAMTS17

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 ADAMTSL2 FBN1 FBN2 LTBP2 TNF

Drugs & Therapeutics for Weill-Marchesani Syndrome

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome

Cochrane evidence based reviews: weill-marchesani syndrome

Genetic Tests for Weill-Marchesani Syndrome

Genetic tests related to Weill-Marchesani Syndrome:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 28

Anatomical Context for Weill-Marchesani Syndrome

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

38
Eye, Skin, Heart, Bone, Endothelial, Thyroid

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 58)
# Title Authors Year
1
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ( 28696036 )
2017
2
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. ( 26966104 )
2016
3
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. ( 25571963 )
2015
4
Golden ring in the eyes: Weill-Marchesani syndrome. ( 26009607 )
2015
5
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. ( 24940034 )
2014
6
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. ( 25469541 )
2014
7
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
8
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
9
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. ( 23897642 )
2013
10
Weill- Marchesani syndrome: a rare case report. ( 22864047 )
2012
11
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
12
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. ( 22013276 )
2011
13
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ( 22606482 )
2011
14
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. ( 21687566 )
2011
15
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. ( 22569327 )
2010
16
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. ( 19743786 )
2009
17
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. ( 19465288 )
2009
18
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
19
Weill-Marchesani syndrome associated with retinitis pigmentosa. ( 17322607 )
2007
20
Cardiac findings in Weill-Marchesani syndrome. ( 17663475 )
2007
21
A case of Weill-Marchesani syndrome with inversion of chromosome 15. ( 18063893 )
2007
22
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ( 16749567 )
2006
23
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. ( 16633042 )
2006
24
Weill-Marchesani syndrome. ( 16761646 )
2006
25
Central corneal thickness in patients with Weill-Marchesani syndrome. ( 16935606 )
2006
26
Homatropine and psychosis in Weill-Marchesani syndrome. ( 16832313 )
2006
27
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
28
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
29
Two patients with Weill-Marchesani syndrome and mitral stenosis. ( 17670292 )
2004
30
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
31
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
32
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ( 14598350 )
2003
33
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. ( 12525539 )
2003
34
Anesthetic management of a patient with Weill-Marchesani syndrome. ( 12648208 )
2003
35
Airway management of a patient with Weill-Marchesani syndrome. ( 12770659 )
2003
36
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. ( 11941487 )
2002
37
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ( 11149617 )
2000
38
Weill-Marchesani syndrome in three generations. ( 10707143 )
1999
39
Capsular tension ring in a patient with Weill-Marchesani syndrome. ( 9719980 )
1998
40
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. ( 9826054 )
1998
41
Weill-Marchesani syndrome: report of an unusual case. ( 9075633 )
1997
42
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. ( 8914744 )
1996
43
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. ( 8913132 )
1996
44
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. ( 7643490 )
1995
45
Weill-Marchesani syndrome. ( 8635842 )
1995
46
Weill-Marchesani Syndrome ( 20301293 )
1993
47
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. ( 18079651 )
1992
48
The Weill-Marchesani syndrome: report of two cases and a review. ( 2277226 )
1990
49
Histology of the lens in the Weill-Marchesani syndrome. ( 2285689 )
1990
50
Weill-Marchesani syndrome in mother and son. ( 3493095 )
1986

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs) deletion Likely pathogenic rs727503056 GRCh37 Chromosome 15, 48760164: 48760207

Expression for Weill-Marchesani Syndrome

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

Pathways for Weill-Marchesani Syndrome

GO Terms for Weill-Marchesani Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.65 ADAMTS10 FBN1 FBN2 FBN3 LTBP2
2 extracellular region GO:0005576 9.65 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1
3 microfibril GO:0001527 9.33 ADAMTS10 FBN1 FBN2
4 proteinaceous extracellular matrix GO:0005578 9.28 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.65 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 camera-type eye development GO:0043010 9.37 FBN1 FBN2
3 extracellular matrix organization GO:0030198 9.35 ADAMTSL2 ADAMTSL4 FBN1 FBN2 TNF
4 embryonic eye morphogenesis GO:0048048 9.32 FBN1 FBN2
5 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
6 regulation of cellular response to growth factor stimulus GO:0090287 8.8 FBN1 FBN2 FBN3

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.71 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2
2 calcium ion binding GO:0005509 9.67 FBN1 FBN2 FBN3 LTBP2
3 metallopeptidase activity GO:0008237 9.5 ADAMTS10 ADAMTS17 ADAMTS6
4 metalloendopeptidase activity GO:0004222 9.43 ADAMTS10 ADAMTS17 ADAMTS6
5 extracellular matrix structural constituent GO:0005201 9.33 FBN1 FBN2 FBN3
6 peptidase activity GO:0008233 9.02 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
7 extracellular matrix constituent conferring elasticity GO:0030023 8.96 FBN1 FBN2

Sources for Weill-Marchesani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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