WMS
MCID: WLL002
MIFTS: 52

Weill-Marchesani Syndrome (WMS)

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

Aliases & Classifications for Weill-Marchesani Syndrome

MalaCards integrated aliases for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 12 24 53 25 59 37 29 6 44 15 73
Spherophakia-Brachymorphia Syndrome 53 25 59
Gemss Syndrome 12 76 73
Marchesani-Weill Syndrome 12 25
Wms 53 25
Weill-Marchesani Syndrome, Autosomal Recessive 73
Weill-Marchesani Syndrome, Autosomal Dominant 73
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 53
Congenital Mesodermal Dysmorphodystrophy 25
Brachymorphy with Spherophakia Syndrome 25
Spherophakia Brachymorphia Syndrome 12
Brachydactyly-Spherophakia Syndrome 25
Congenital Mesodermal Dystrophy 12
Marchesani Syndrome 25
Wm Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

24
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 44 D056846
NCIt 50 C85226
SNOMED-CT 68 2884008
Orphanet 59 ORPHA3449
UMLS via Orphanet 74 C0265313
MESH via Orphanet 45 D056846
ICD10 via Orphanet 34 Q87.0
KEGG 37 H00673

Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 1 and geleophysic dysplasia, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include eye, skin and bone, and related phenotypes are cataract and short stature

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

Genetics Home Reference : 25 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.

Wikipedia : 76 Weill�??Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually... 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 Syndrome 4 Weill-Marchesani Syndrome 3

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 34.6 ADAMTS10 LTBP2
2 geleophysic dysplasia 30.8 ADAMTSL2 FBN1
3 marfan syndrome 30.5 FBN1 FBN2 LTBP2
4 isolated ectopia lentis 29.9 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 FBN1 FBN3
5 weill-marchesani syndrome 2 12.9
6 weill-marchesani syndrome 3 12.8
7 weill-marchesani syndrome 4 12.7
8 waldenstrom macroglobulinemia 12.1
9 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.4
10 acromicric dysplasia 11.4
11 ectopia lentis 2, isolated, autosomal recessive 11.4
12 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.4
13 tibia, hypoplasia or aplasia of, with polydactyly 11.4
14 williams-beuren syndrome 11.4
15 macroglobulinemia, waldenstrom 1 11.3
16 macroglobulinemia 10.5
17 geleophysic dysplasia 1 10.4
18 geleophysic dysplasia 2 10.4
19 chronic closed-angle glaucoma 10.4
20 geleophysic dwarfism 10.4
21 retinitis pigmentosa 10.3
22 leber congenital amaurosis 4 10.3
23 mitral valve insufficiency 10.3
24 acute closed-angle glaucoma 10.3
25 retinitis 10.3
26 aortic disease 10.3
27 isolated microspherophakia 10.2 ADAMTS10 LTBP2
28 marden-walker syndrome 10.1 FBN1 FBN2
29 dental pulp calcification 10.1 FBN1 FBN2
30 nontuberculous mycobacterial lung disease 10.1 FBN1 TNF
31 tracheal disease 10.1 ADAMTS10 ADAMTSL2
32 postural orthostatic tachycardia syndrome 10.1 ADAMTSL4 FBN1
33 lymphoma 10.0
34 epilepsy 10.0
35 loeys-dietz syndrome 10.0 FBN1 FBN2
36 tracheal stenosis 10.0 ADAMTS10 ADAMTSL2 FBN1
37 myopia 10.0 ADAMTS10 ADAMTS17 FBN1
38 lens disease 10.0 ADAMTSL4 FBN1
39 inguinal hernia 10.0 ADAMTS6 FBN1
40 brachydactyly 9.9
41 dwarfism 9.9
42 orthostatic intolerance 9.9 FBN1 FBN2
43 alzheimer disease 9.9
44 schizophrenia 9.9
45 lymphoma, hodgkin, classic 9.9
46 spondylocarpotarsal synostosis syndrome 9.9
47 wilson disease 9.9
48 polydactyly 9.9
49 lymphoma, non-hodgkin, familial 9.9
50 brain injury 9.9

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
4 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
5 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
6 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
7 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
8 ectopia lentis 59 32 frequent (33%) Frequent (79-30%) HP:0001083
9 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
10 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
11 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
12 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
13 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
14 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
15 malformation of the heart and great vessels 59 Frequent (79-30%)
16 severe myopia 59 Very frequent (99-80%)
17 high myopia 32 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.28 ADAMTS17
2 Decreased viability GR00381-A-1 9.28 ADAMTS17 FBN3
3 Decreased viability GR00381-A-2 9.28 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.28 ADAMTS17 FBN3
5 Decreased viability GR00402-S-2 9.28 ADAMTS17 FBN3

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

46
# 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 29

Anatomical Context for Weill-Marchesani Syndrome

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

41
Eye, Skin, Bone, Heart, Lung, Brain, Temporal Lobe

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. ( 30060141 )
2018
2
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ( 28696036 )
2017
3
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. ( 26966104 )
2016
4
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. ( 25571963 )
2015
5
Golden ring in the eyes: Weill-Marchesani syndrome. ( 26009607 )
2015
6
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. ( 24940034 )
2014
7
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. ( 25469541 )
2014
8
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
9
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. ( 23897642 )
2013
10
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
11
Weill- Marchesani syndrome: a rare case report. ( 22864047 )
2012
12
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
13
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. ( 21687566 )
2011
14
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ( 22606482 )
2011
15
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. ( 22013276 )
2011
16
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. ( 22569327 )
2010
17
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. ( 19465288 )
2009
18
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. ( 19743786 )
2009
19
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
20
A case of Weill-Marchesani syndrome with inversion of chromosome 15. ( 18063893 )
2007
21
Weill-Marchesani syndrome associated with retinitis pigmentosa. ( 17322607 )
2007
22
Cardiac findings in Weill-Marchesani syndrome. ( 17663475 )
2007
23
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. ( 16633042 )
2006
24
Central corneal thickness in patients with Weill-Marchesani syndrome. ( 16935606 )
2006
25
Weill-Marchesani syndrome. ( 16761646 )
2006
26
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
27
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ( 16749567 )
2006
28
Homatropine and psychosis in Weill-Marchesani syndrome. ( 16832313 )
2006
29
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
30
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
31
Two patients with Weill-Marchesani syndrome and mitral stenosis. ( 17670292 )
2004
32
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
33
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. ( 15478742 )
2004
34
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. ( 12525539 )
2003
35
Airway management of a patient with Weill-Marchesani syndrome. ( 12770659 )
2003
36
Anesthetic management of a patient with Weill-Marchesani syndrome. ( 12648208 )
2003
37
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ( 14598350 )
2003
38
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. ( 11941487 )
2002
39
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ( 11149617 )
2000
40
Weill-Marchesani syndrome in three generations. ( 10707143 )
1999
41
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. ( 9826054 )
1998
42
Capsular tension ring in a patient with Weill-Marchesani syndrome. ( 9719980 )
1998
43
Weill-Marchesani syndrome: report of an unusual case. ( 9075633 )
1997
44
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. ( 8914744 )
1996
45
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. ( 8913132 )
1996
46
Weill-Marchesani syndrome. ( 8635842 )
1995
47
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. ( 7643490 )
1995
48
Weill-Marchesani Syndrome ( 20301293 )
1993
49
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. ( 18079651 )
1992
50
The Weill-Marchesani syndrome: report of two cases and a review. ( 2277226 )
1990

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

6 (show top 50) (show all 610)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
2 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
3 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
4 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
5 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
6 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
7 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
8 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
9 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
10 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
11 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
12 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
13 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
14 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605
15 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh37 Chromosome 15, 48888508: 48888508
16 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh38 Chromosome 15, 48596311: 48596311
17 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
18 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
19 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
20 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
21 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh37 Chromosome 15, 48703520: 48703520
22 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh38 Chromosome 15, 48411323: 48411323
23 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh37 Chromosome 15, 48703301: 48703301
24 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh38 Chromosome 15, 48411104: 48411104
25 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh37 Chromosome 15, 48818329: 48818329
26 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh38 Chromosome 15, 48526132: 48526132
27 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh37 Chromosome 15, 48936811: 48936811
28 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh38 Chromosome 15, 48644614: 48644614
29 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh37 Chromosome 15, 48797307: 48797307
30 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh38 Chromosome 15, 48505110: 48505110
31 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
32 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh38 Chromosome 15, 48497384: 48497384
33 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh37 Chromosome 15, 48782284: 48782284
34 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh38 Chromosome 15, 48490087: 48490087
35 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh37 Chromosome 15, 48782235: 48782235
36 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh38 Chromosome 15, 48490038: 48490038
37 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh37 Chromosome 15, 48779550: 48779550
38 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh38 Chromosome 15, 48487353: 48487353
39 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh37 Chromosome 15, 48779549: 48779549
40 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh38 Chromosome 15, 48487352: 48487352
41 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh37 Chromosome 15, 48779506: 48779506
42 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh38 Chromosome 15, 48487309: 48487309
43 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh37 Chromosome 15, 48760242: 48760242
44 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh38 Chromosome 15, 48468045: 48468045
45 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh37 Chromosome 15, 48744862: 48744862
46 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh38 Chromosome 15, 48452665: 48452665
47 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh37 Chromosome 15, 48738893: 48738893
48 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh38 Chromosome 15, 48446696: 48446696
49 FBN1 NM_000138.4(FBN1): c.6681A> C (p.Ser2227=) single nucleotide variant Benign/Likely benign rs363824 GRCh37 Chromosome 15, 48725121: 48725121
50 FBN1 NM_000138.4(FBN1): c.6681A> C (p.Ser2227=) single nucleotide variant Benign/Likely benign rs363824 GRCh38 Chromosome 15, 48432924: 48432924

Expression for Weill-Marchesani Syndrome

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

Pathways for Weill-Marchesani Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2
Show member pathways
13.28 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
3
Show member pathways
12.65 FBN1 FBN2 FBN3 LTBP2
4
Show member pathways
12.36 FBN1 FBN2 FBN3 LTBP2
5
Show member pathways
11.9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
6
Show member pathways
11.6 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
7
Show member pathways
11.49 FBN1 FBN2 FBN3 LTBP2
8
Show member pathways
10.98 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
9 10.96 FBN1 FBN2 FBN3 LTBP2
10 10.67 FBN1 FBN2 FBN3 LTBP2 TNF

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 region GO:0005576 9.7 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 collagen-containing extracellular matrix GO:0062023 9.56 FBN1 FBN2 FBN3 LTBP2
3 endoplasmic reticulum lumen GO:0005788 9.5 ADAMTS13 ADAMTSL4 FBN1
4 microfibril GO:0001527 9.33 ADAMTS10 FBN1 FBN2
5 extracellular matrix GO:0031012 9.23 ADAMTS10 ADAMTS13 ADAMTSL2 ADAMTSL4 FBN1 FBN2

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.43 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 camera-type eye development GO:0043010 9.32 FBN1 FBN2
3 embryonic eye morphogenesis GO:0048048 9.26 FBN1 FBN2
4 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
5 extracellular matrix organization GO:0030198 9.02 ADAMTSL2 ADAMTSL4 FBN1 FBN2 TNF

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.77 ADAMTS13 FBN1 FBN2 FBN3 LTBP2
2 metallopeptidase activity GO:0008237 9.56 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6
3 extracellular matrix structural constituent GO:0005201 9.46 FBN1 FBN2 FBN3 LTBP2
4 extracellular matrix constituent conferring elasticity GO:0030023 9.32 FBN1 FBN2
5 metalloendopeptidase activity GO:0004222 9.26 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6
6 peptidase activity GO:0008233 9.1 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4

Sources for Weill-Marchesani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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