MCID: WLL002
MIFTS: 50

Weill-Marchesani Syndrome

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 25 54 26 60 38 30 6 45 15 74
Spherophakia-Brachymorphia Syndrome 54 26 60
Gemss Syndrome 12 77 74
Marchesani-Weill Syndrome 12 26
Wms 54 26
Weill-Marchesani Syndrome, Autosomal Recessive 74
Weill-Marchesani Syndrome, Autosomal Dominant 74
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 54
Congenital Mesodermal Dysmorphodystrophy 26
Brachymorphy with Spherophakia Syndrome 26
Spherophakia Brachymorphia Syndrome 12
Brachydactyly-Spherophakia Syndrome 26
Congenital Mesodermal Dystrophy 12
Marchesani Syndrome 26
Wm Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050475
KEGG 38 H00673
MeSH 45 D056846
NCIt 51 C85226
SNOMED-CT 69 2884008
MESH via Orphanet 46 D056846
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C0265313
Orphanet 60 ORPHA3449

Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : 54 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 acromicric 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, skin and endothelial, and related phenotypes are short stature and glaucoma

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 : 26 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 : 77 Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short,... more...

GeneReviews:

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 75)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 34.9 ADAMTS10 LTBP2
2 acromicric dysplasia 32.1 FBN1 LTBP3
3 marfan syndrome 30.5 FBN1 FBN2 LTBP2
4 geleophysic dysplasia 30.2 ADAMTSL2 FBN1 LTBP3
5 isolated ectopia lentis 29.5 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 FBN1 FBN3
6 weill-marchesani syndrome 2 13.0
7 weill-marchesani syndrome 4 12.9
8 weill-marchesani syndrome 3 12.9
9 waldenstrom macroglobulinemia 12.1
10 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.5
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 11.4
16 macroglobulinemia 10.5
17 geleophysic dysplasia 1 10.5
18 geleophysic dysplasia 2 10.5
19 chronic closed-angle glaucoma 10.5
20 geleophysic dwarfism 10.5
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 mitral valve stenosis 10.3
26 retinal vascular disease 10.3
27 retinitis 10.3
28 aortic disease 10.3
29 isolated microspherophakia 10.3 ADAMTS10 LTBP2
30 epilepsy 10.2
31 marden-walker syndrome 10.2 FBN1 FBN2
32 dental pulp calcification 10.2 FBN1 FBN2
33 temporal lobe epilepsy 10.1
34 lymphoma 10.1
35 nontuberculous mycobacterial lung disease 10.1 FBN1 TNF
36 postural orthostatic tachycardia syndrome 10.1 ADAMTSL4 FBN1
37 tracheal disease 10.1 ADAMTS10 ADAMTSL2
38 brain injury 10.0
39 traumatic brain injury 10.0
40 amnestic disorder 10.0
41 loeys-dietz syndrome 10.0 FBN1 FBN2
42 brachydactyly 10.0
43 dwarfism 10.0
44 myopia 9.9 ADAMTS10 ADAMTS17 FBN1
45 lens disease 9.9 ADAMTSL4 FBN1
46 connective tissue disease 9.9 FBN1 FBN2 TNF
47 alzheimer disease 9.9
48 blood group system, landsteiner-wiener 9.9
49 exudative vitreoretinopathy 1 9.9
50 neutrophil migration 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:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
3 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009778
5 high myopia 33 hallmark (90%) HP:0011003
6 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
7 ectopia lentis 60 33 frequent (33%) Frequent (79-30%) HP:0001083
8 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
9 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
10 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
11 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
12 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
13 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
14 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
15 aortic valve stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001650
16 malformation of the heart and great vessels 60 Frequent (79-30%)
17 severe myopia 60 Very frequent (99-80%)

UMLS symptoms related to Weill-Marchesani Syndrome:


joint stiffness

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.64 ADAMTS17
2 Decreased viability GR00381-A-1 9.64 ADAMTS17 FBN3 LTBP3
3 Decreased viability GR00381-A-2 9.64 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.64 ADAMTS17 FBN3 LTBP3
5 Decreased viability GR00402-S-2 9.64 ADAMTS17 FBN3 LTBP3

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 ADAMTS6 FBN1 FBN2 LTBP3 TNF
2 respiratory system MP:0005388 9.1 ADAMTSL2 FBN1 FBN2 LTBP2 LTBP3 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 30

Anatomical Context for Weill-Marchesani Syndrome

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

42
Eye, Skin, Endothelial, Thyroid, Neutrophil, B Cells, Temporal Lobe

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. ( 31019231 )
2019
2
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. ( 30060141 )
2018
3
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ( 28696036 )
2017
4
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. ( 26966104 )
2016
5
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. ( 25469541 )
2015
6
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. ( 25571963 )
2015
7
Golden ring in the eyes: Weill-Marchesani syndrome. ( 26009607 )
2015
8
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. ( 24940034 )
2014
9
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. ( 23897642 )
2013
10
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
11
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
12
Weill- Marchesani syndrome: a rare case report. ( 22864047 )
2012
13
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
14
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. ( 21687566 )
2011
15
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. ( 22013276 )
2011
16
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ( 22606482 )
2011
17
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. ( 22569327 )
2010
18
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. ( 19465288 )
2009
19
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. ( 19743786 )
2009
20
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
21
Weill-Marchesani syndrome associated with retinitis pigmentosa. ( 17322607 )
2007
22
Cardiac findings in Weill-Marchesani syndrome. ( 17663475 )
2007
23
A case of Weill-Marchesani syndrome with inversion of chromosome 15. ( 18063893 )
2007
24
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
25
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. ( 16633042 )
2006
26
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ( 16749567 )
2006
27
Weill-Marchesani syndrome. ( 16761646 )
2006
28
Homatropine and psychosis in Weill-Marchesani syndrome. ( 16832313 )
2006
29
Central corneal thickness in patients with Weill-Marchesani syndrome. ( 16935606 )
2006
30
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
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
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
33
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. ( 15478742 )
2004
34
Two patients with Weill-Marchesani syndrome and mitral stenosis. ( 17670292 )
2004
35
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. ( 12525539 )
2003
36
Anesthetic management of a patient with Weill-Marchesani syndrome. ( 12648208 )
2003
37
Airway management of a patient with Weill-Marchesani syndrome. ( 12770659 )
2003
38
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ( 14598350 )
2003
39
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. ( 11941487 )
2002
40
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ( 11149617 )
2000
41
Weill-Marchesani syndrome in three generations. ( 10707143 )
1999
42
Capsular tension ring in a patient with Weill-Marchesani syndrome. ( 9719980 )
1998
43
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. ( 9826054 )
1998
44
Weill-Marchesani syndrome: report of an unusual case. ( 9075633 )
1997
45
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. ( 8913132 )
1996
46
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. ( 8914744 )
1996
47
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. ( 7643490 )
1995
48
Weill-Marchesani syndrome. ( 8635842 )
1995
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

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 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.56 FBN1 FBN2 FBN3 LTBP2
3 microfibril GO:0001527 9.33 ADAMTS10 FBN1 FBN2
4 extracellular matrix GO:0031012 9.1 ADAMTSL2 ADAMTSL4 FBN1 FBN2 FBN3 LTBP2

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 9.32 FBN1 FBN2
3 embryonic eye morphogenesis GO:0048048 9.16 FBN1 FBN2
4 extracellular matrix organization GO:0030198 9.02 ADAMTSL2 ADAMTSL4 FBN1 FBN2 TNF
5 sequestering of TGFbeta in extracellular matrix GO:0035583 8.96 FBN1 FBN2

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 9.65 FBN1 FBN2 FBN3 LTBP2 LTBP3
2 metallopeptidase activity GO:0008237 9.54 ADAMTS10 ADAMTS17 ADAMTS6
3 metalloendopeptidase activity GO:0004222 9.5 ADAMTS10 ADAMTS17 ADAMTS6
4 growth factor binding GO:0019838 9.4 LTBP2 LTBP3
5 peptidase activity GO:0008233 9.35 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
6 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 FBN2
7 extracellular matrix structural constituent GO:0005201 8.92 FBN1 FBN2 FBN3 LTBP2

Sources for Weill-Marchesani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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