MCID: WLL002
MIFTS: 49

Weill-Marchesani Syndrome

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0050475
MeSH 44 D056846
NCIt 50 C85226
SNOMED-CT 68 205801004 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, skin and heart, and related phenotypes are glaucoma and cataract

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.

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

Wikipedia : 76 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 all 42)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 35.0 ADAMTS10 LTBP2
2 geleophysic dysplasia 30.7 ADAMTSL2 FBN1
3 isolated ectopia lentis 30.4 ADAMTSL4 FBN1
4 marfan syndrome 30.2 FBN1 FBN2 LTBP2
5 weill-marchesani syndrome 2 12.8
6 weill-marchesani syndrome 3 12.7
7 weill-marchesani syndrome 4 12.6
8 waldenstrom macroglobulinemia 11.9
9 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.3
10 lymphoplasmacytic lymphoma 11.3
11 acromicric dysplasia 11.3
12 ectopia lentis 2, isolated, autosomal recessive 11.3
13 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.3
14 tibia, hypoplasia or aplasia of, with polydactyly 11.2
15 williams-beuren syndrome 11.2
16 macroglobulinemia, waldenstrom 1 11.2
17 phacogenic glaucoma 10.4 FBN1 LTBP2
18 marden-walker syndrome 10.4 FBN1 FBN2
19 geleophysic dysplasia 1 10.4
20 geleophysic dysplasia 2 10.4
21 geleophysic dwarfism 10.4
22 dental pulp calcification 10.3 FBN1 FBN2
23 primary congenital glaucoma 10.3 ADAMTS10 LTBP2
24 retinitis 10.3
25 nontuberculous mycobacterial lung disease 10.2 FBN1 TNF
26 retinitis pigmentosa 10.1
27 leber congenital amaurosis 4 10.1
28 acute closed-angle glaucoma 10.1
29 chronic closed-angle glaucoma 10.1
30 cervicitis 10.1
31 aortic disease 10.1
32 thyroiditis 10.1
33 endotheliitis 10.1
34 popliteal pterygium syndrome 10.1 FBN1 FBN2
35 tracheal disease 10.1 ADAMTS10 ADAMTSL2
36 loeys-dietz syndrome 10.0 FBN1 FBN2
37 myopia 9.9 ADAMTS10 ADAMTS17 FBN1
38 tracheal stenosis 9.9 ADAMTS10 ADAMTSL2 FBN1
39 inguinal hernia 9.8 ADAMTS6 FBN1
40 connective tissue disease 9.7 FBN1 FBN2 TNF
41 orthostatic intolerance 9.4 ADAMTSL4 FBN1 FBN2
42 peters-plus syndrome 9.2 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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
4 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
5 ectopia lentis 59 32 frequent (33%) Frequent (79-30%) HP:0001083
6 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
7 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
8 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
9 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
11 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
12 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
13 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
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, 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
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. ( 23897642 )
2013
9
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
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
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. ( 21687566 )
2011
13
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ( 22606482 )
2011
14
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. ( 22013276 )
2011
15
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. ( 22569327 )
2010
16
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. ( 19465288 )
2009
17
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. ( 19743786 )
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
A case of Weill-Marchesani syndrome with inversion of chromosome 15. ( 18063893 )
2007
20
Weill-Marchesani syndrome associated with retinitis pigmentosa. ( 17322607 )
2007
21
Cardiac findings in Weill-Marchesani syndrome. ( 17663475 )
2007
22
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. ( 16633042 )
2006
23
Central corneal thickness in patients with Weill-Marchesani syndrome. ( 16935606 )
2006
24
Weill-Marchesani syndrome. ( 16761646 )
2006
25
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
26
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ( 16749567 )
2006
27
Homatropine and psychosis in Weill-Marchesani syndrome. ( 16832313 )
2006
28
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
29
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
30
Two patients with Weill-Marchesani syndrome and mitral stenosis. ( 17670292 )
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
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. ( 12525539 )
2003
33
Airway management of a patient with Weill-Marchesani syndrome. ( 12770659 )
2003
34
Anesthetic management of a patient with Weill-Marchesani syndrome. ( 12648208 )
2003
35
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ( 14598350 )
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
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. ( 9826054 )
1998
40
Capsular tension ring in a patient with Weill-Marchesani syndrome. ( 9719980 )
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
Weill-Marchesani syndrome. ( 8635842 )
1995
45
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. ( 7643490 )
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
(show top 50) (show all 528)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
2 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
3 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
4 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
5 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
6 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
7 FBN1 NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs) deletion Likely pathogenic rs727503056 GRCh37 Chromosome 15, 48760164: 48760207
8 FBN1 NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs) deletion Likely pathogenic rs727503056 GRCh38 Chromosome 15, 48467967: 48468010
9 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
10 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
11 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
12 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
13 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
14 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
15 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
16 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
17 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
18 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
19 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
20 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
21 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
22 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
23 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
24 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
25 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
26 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
27 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
28 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683
29 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh37 Chromosome 15, 48826356: 48826356
30 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh38 Chromosome 15, 48534159: 48534159
31 LTBP2 NM_000428.2(LTBP2): c.2788+13C> T single nucleotide variant Likely benign rs78258030 GRCh38 Chromosome 14, 74521898: 74521898
32 LTBP2 NM_000428.2(LTBP2): c.2788+13C> T single nucleotide variant Likely benign rs78258030 GRCh37 Chromosome 14, 74988601: 74988601
33 LTBP2 NM_000428.2(LTBP2): c.2406T> C (p.Thr802=) single nucleotide variant Benign/Likely benign rs699374 GRCh38 Chromosome 14, 74526097: 74526097
34 LTBP2 NM_000428.2(LTBP2): c.2406T> C (p.Thr802=) single nucleotide variant Benign/Likely benign rs699374 GRCh37 Chromosome 14, 74992800: 74992800
35 LTBP2 NM_000428.2(LTBP2): c.1287G> A (p.Leu429=) single nucleotide variant Likely benign rs61738025 GRCh38 Chromosome 14, 74552299: 74552299
36 LTBP2 NM_000428.2(LTBP2): c.1287G> A (p.Leu429=) single nucleotide variant Likely benign rs61738025 GRCh37 Chromosome 14, 75019002: 75019002
37 LTBP2 NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln) single nucleotide variant Likely benign rs2304707 GRCh37 Chromosome 14, 75022271: 75022271
38 LTBP2 NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln) single nucleotide variant Likely benign rs2304707 GRCh38 Chromosome 14, 74555568: 74555568
39 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh38 Chromosome 15, 48411243: 48411243
40 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh37 Chromosome 15, 48703440: 48703440
41 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh38 Chromosome 15, 48427715: 48427715
42 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh37 Chromosome 15, 48719912: 48719912
43 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh37 Chromosome 15, 48780684: 48780684
44 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh38 Chromosome 15, 48488487: 48488487
45 LTBP2 NM_000428.2(LTBP2): c.*2353T> C single nucleotide variant Uncertain significance rs552983028 GRCh38 Chromosome 14, 74498531: 74498531
46 LTBP2 NM_000428.2(LTBP2): c.*2353T> C single nucleotide variant Uncertain significance rs552983028 GRCh37 Chromosome 14, 74965234: 74965234
47 LTBP2 NM_000428.2(LTBP2): c.*2266G> A single nucleotide variant Uncertain significance rs886050747 GRCh38 Chromosome 14, 74498618: 74498618
48 LTBP2 NM_000428.2(LTBP2): c.*2266G> A single nucleotide variant Uncertain significance rs886050747 GRCh37 Chromosome 14, 74965321: 74965321
49 LTBP2 NM_000428.2(LTBP2): c.*1302G> A single nucleotide variant Uncertain significance rs191692241 GRCh38 Chromosome 14, 74499582: 74499582
50 LTBP2 NM_000428.2(LTBP2): c.*1302G> A single nucleotide variant Uncertain significance rs191692241 GRCh37 Chromosome 14, 74966285: 74966285

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 9.55 ADAMTS10 FBN1 FBN2 FBN3 LTBP2
2 extracellular region GO:0005576 9.32 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1
3 microfibril GO:0001527 9.13 ADAMTS10 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 9.65 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 anatomical structure morphogenesis GO:0009653 9.54 FBN1 FBN2 FBN3
3 camera-type eye development GO:0043010 9.4 FBN1 FBN2
4 extracellular matrix organization GO:0030198 9.35 ADAMTSL2 ADAMTSL4 FBN1 FBN2 TNF
5 embryonic eye morphogenesis GO:0048048 9.32 FBN1 FBN2
6 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
7 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 calcium ion binding GO:0005509 9.67 FBN1 FBN2 FBN3 LTBP2
2 metallopeptidase activity GO:0008237 9.5 ADAMTS10 ADAMTS17 ADAMTS6
3 metalloendopeptidase activity GO:0004222 9.43 ADAMTS10 ADAMTS17 ADAMTS6
4 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 FBN2
5 extracellular matrix structural constituent GO:0005201 9.13 FBN1 FBN2 FBN3
6 peptidase activity GO:0008233 9.02 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4

Sources for Weill-Marchesani Syndrome

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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