WMS
MCID: WLL002
MIFTS: 55

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 25 20 43 58 36 29 6 44 15 70
Spherophakia-Brachymorphia Syndrome 20 43 58
Gemss Syndrome 12 73 70
Marchesani-Weill Syndrome 12 43
Wms 20 43
Weill-Marchesani Syndrome, Autosomal Recessive 70
Weill-Marchesani Syndrome, Autosomal Dominant 70
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 20
Congenital Mesodermal Dysmorphodystrophy 43
Brachymorphy with Spherophakia Syndrome 43
Spherophakia Brachymorphia Syndrome 12
Brachydactyly-Spherophakia Syndrome 43
Congenital Mesodermal Dystrophy 12
Marchesani Syndrome 43
Wm Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

25
Penetrance The penetrance in those with autosomal recessive and dominant wms is thought to be 100%. intrafamilial and interfamilial variable expressivity is observed in wms.

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050475
KEGG 36 H00673
MeSH 44 D056846
NCIt 50 C85226
SNOMED-CT 67 205801004
MESH via Orphanet 45 D056846
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C0265313
Orphanet 58 ORPHA3449
UMLS 70 C0265313 C1869114 C1869115 more

Summaries for Weill-Marchesani Syndrome

GARD : 20 Weill-Marchesani syndrome is an inherited connective 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 ectopia lentis 2, isolated, autosomal recessive, and has symptoms including joint stiffness 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 Metabolism of proteins and HIV Life Cycle. Affiliated tissues include eye, heart and bone, and related phenotypes are short stature and glaucoma

Disease Ontology : 12 A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

MedlinePlus Genetics : 43 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.The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term 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). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

KEGG : 36 Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of this syndrome.

Wikipedia : 73 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 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 111)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 33.5 LTBP2 FBN1 ADAMTS10
2 ectopia lentis 2, isolated, autosomal recessive 32.1 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 brachydactyly 31.5 LTBP2 FBN1 ADAMTSL2 ADAMTS17 ADAMTS10
4 myopia 31.3 LTBP2 FBN2 FBN1 ADAMTS17 ADAMTS10
5 marfan syndrome 30.7 THSD4 LTBP2 LOC113939944 FBN3 FBN2 FBN1
6 lens subluxation 30.6 LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
7 isolated ectopia lentis 30.6 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
8 ectopia lentis 1, isolated, autosomal dominant 30.5 THSD4 FBN1 ADAMTSL4 ADAMTS10
9 connective tissue disease 30.5 TNF FBN2 FBN1 ADAMTSL1 ADAMTS2
10 acromicric dysplasia 30.5 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
11 aortic aneurysm, familial thoracic 1 30.4 LTBP3 LTBP2 LTBP1 FBN2 FBN1
12 tracheal stenosis 30.0 TBRG1 LTBP3 LTBP1 FBN1 ADAMTSL4 ADAMTSL2
13 megalocornea 30.0 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
14 geleophysic dysplasia 28.9 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
15 weill-marchesani syndrome 2 12.0
16 weill-marchesani syndrome 3 11.9
17 weill-marchesani syndrome 4 11.8
18 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.3
19 williams-beuren syndrome 11.3
20 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.2
21 tibia, hypoplasia or aplasia of, with polydactyly 11.0
22 intraocular pressure quantitative trait locus 10.6
23 isolated microspherophakia 10.4 LTBP2 ADAMTS10
24 lens position anomaly 10.4 FBN1 ADAMTSL4
25 chronic closed-angle glaucoma 10.4
26 aortic aneurysm, familial thoracic 2 10.4 FBN2 FBN1
27 marfanoid-progeroid-lipodystrophy syndrome 10.3 LOC113939944 FBN1
28 nontuberculous mycobacterial lung disease 10.3 TNF FBN1
29 tricuspid valve prolapse 10.3 FBN2 FBN1
30 tibialis tendinitis 10.3 FBN2 ADAMTS2
31 postural orthostatic tachycardia syndrome 10.3 TBRG1 FBN2 FBN1
32 contractural arachnodactyly, congenital 10.3 FBN3 FBN2 FBN1
33 temporal lobe epilepsy 10.3
34 iris disease 10.3 LTBP3 LTBP2 FBN1
35 excessive tearing 10.3 LTBP3 LTBP2
36 cutis laxa 10.3 LTBP3 LTBP1 FBN1
37 marden-walker syndrome 10.3 FBN2 FBN1
38 witkop syndrome 10.3 LTBP3 LTBP2
39 aortic dissection 10.3
40 acute closed-angle glaucoma 10.3
41 mitral valve stenosis 10.3
42 aortic disease 10.3
43 acromelic dysplasia 10.3
44 lens disease 10.3 TNF FBN1 ADAMTSL4
45 primary congenital glaucoma 10.3 LTBP3 LTBP2 FBN1 ADAMTS10
46 hydrophthalmos 10.2 LTBP3 LTBP2
47 traumatic brain injury 10.2
48 glaucoma 3, primary congenital, a 10.2 LTBP3 LTBP2 ADAMTS17 ADAMTS10
49 geleophysic dysplasia 3 10.2 TBRG1 LTBP3 LTBP2 ADAMTSL2
50 heritable thoracic aortic disease 10.2 LTBP3 FBN1

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
5 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
6 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
7 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
8 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
9 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
11 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
12 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
13 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
14 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
15 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
16 malformation of the heart and great vessels 58 Frequent (79-30%)

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 9.36 ADAMTS17
2 Decreased viability GR00381-A-1 9.36 ADAMTS17 FBN3 LTBP3
3 Decreased viability GR00381-A-2 9.36 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.36 ADAMTS17 FBN3 LTBP3
5 Decreased viability GR00402-S-2 9.36 ADAMTS17 LTBP3

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.92 ADAMTS17 ADAMTS2 ADAMTS6 FBN1 FBN2 LTBP1
2 integument MP:0010771 9.91 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL4 FBN1 FBN2
3 limbs/digits/tail MP:0005371 9.7 ADAMTS17 ADAMTS6 ADAMTSL2 FBN1 FBN2 LTBP1
4 respiratory system MP:0005388 9.5 ADAMTS2 ADAMTSL2 FBN1 FBN2 LTBP2 LTBP3
5 skeleton MP:0005390 9.36 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS4 ADAMTS6 ADAMTSL2

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:

40
Eye, Heart, Bone, Brain, Endothelial, Lung, Skin

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 161)
# Title Authors PMID Year
1
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 61 25 6
22539340 2012
2
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 6 25 61
19836009 2009
3
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 6 61 25
15368195 2004
4
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 25 61 6
12525539 2003
5
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. 61 6
18567016 2008
6
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 25 61
31726086 2020
7
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. 61 25
31019231 2019
8
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. 61 25
28696036 2017
9
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61 25
27068007 2016
10
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. 61 25
25571963 2015
11
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. 25 61
25142510 2014
12
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. 25 61
24940034 2014
13
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. 61 25
25053872 2014
14
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. 61 25
24039088 2013
15
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 61 25
23897642 2013
16
Microenvironmental regulation by fibrillin-1. 25 61
22242013 2012
17
ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. 25 61
21402694 2011
18
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. 25 61
22606482 2011
19
A homozygous mutation in LTBP2 causes isolated microspherophakia. 25 61
20617341 2010
20
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. 61 25
19696795 2009
21
Cardiac findings in Weill-Marchesani syndrome. 25 61
17663475 2007
22
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 61 25
17718856 2007
23
Weill-Marchesani syndrome associated with retinitis pigmentosa. 61 25
17322607 2007
24
Central corneal thickness in patients with Weill-Marchesani syndrome. 61 25
16935606 2006
25
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. 25 61
16749567 2006
26
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. 25 61
15478742 2004
27
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 25 61
14598350 2003
28
Angle closure in younger patients. 25 61
14522758 2003
29
Airway management of a patient with Weill-Marchesani syndrome. 25 61
12770659 2003
30
Anesthetic management of a patient with Weill-Marchesani syndrome. 25 61
12648208 2003
31
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 6
12068374 2002
32
Angle closure in younger patients. 61 25
12545694 2002
33
Weill-Marchesani syndrome in three generations. 25 61
10707143 1999
34
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
35
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 25
27906200 2017
36
Timing, rates and spectra of human germline mutation. 25
26656846 2016
37
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
38
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 25
24793577 2014
39
Genetics, medicine, and the Plain people. 25
19630565 2009
40
Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity. 61
33484187 2021
41
The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease. 61
32875613 2021
42
Secondary intraocular lens implantation using the flanged intrascleral fixation technique in pediatric aphakia: case series and review of literature. 61
33045378 2020
43
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. 61
32616716 2020
44
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases. 61
32290605 2020
45
[A case of secondary glaucoma in Weill-Marchesani syndrome]. 61
31973976 2020
46
Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. 61
31201465 2019
47
Weill-Marchesani Syndrome with Secondary Angle Closure Glaucoma. 61
31688372 2019
48
Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage. 61
30201140 2019
49
Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. 61
30415012 2019
50
Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome. 61
31114122 2019

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

6 (show top 50) (show all 589)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS10 NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) SNV Pathogenic 1944 rs121434357 GRCh37: 19:8665913-8665913
GRCh38: 19:8601029-8601029
2 ADAMTS10 NM_030957.4(ADAMTS10):c.1190+1G>A SNV Pathogenic 1945 rs431825170 GRCh37: 19:8661190-8661190
GRCh38: 19:8596306-8596306
3 ADAMTS10 NM_030957.4(ADAMTS10):c.810+1G>A SNV Pathogenic 1946 rs387906266 GRCh37: 19:8665811-8665811
GRCh38: 19:8600927-8600927
4 ADAMTS10 NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) SNV Pathogenic 1947 rs121434358 GRCh37: 19:8670523-8670523
GRCh38: 19:8605638-8605638
5 ADAMTS10 NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) SNV Pathogenic 1948 rs121434359 GRCh37: 19:8661959-8661959
GRCh38: 19:8597075-8597075
6 ADAMTS10 NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) SNV Pathogenic 1949 rs267606636 GRCh37: 19:8657681-8657681
GRCh38: 19:8592797-8592797
7 ADAMTS10 NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) SNV Pathogenic 1950 rs267606637 GRCh37: 19:8654186-8654186
GRCh38: 19:8589302-8589302
8 LTBP2 NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) SNV Pathogenic 37093 rs137854856 GRCh37: 14:74975430-74975430
GRCh38: 14:74508727-74508727
9 LTBP2 NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) SNV Pathogenic 37093 rs137854856 GRCh37: 14:74975430-74975430
GRCh38: 14:74508727-74508727
10 ADAMTS10 NM_030957.4(ADAMTS10):c.2350C>T (p.Gln784Ter) SNV Pathogenic 279614 rs886041105 GRCh37: 19:8651495-8651495
GRCh38: 19:8586611-8586611
11 ADAMTS10 NM_030957.4(ADAMTS10):c.3043-2A>C SNV Pathogenic 998388 GRCh37: 19:8649940-8649940
GRCh38: 19:8585056-8585056
12 LTBP2 NM_000428.3(LTBP2):c.2931del (p.Gly978fs) Deletion Pathogenic 1032352 GRCh37: 14:74978045-74978045
GRCh38: 14:74511342-74511342
13 ADAMTS10 NM_030957.4(ADAMTS10):c.1588-7del Deletion Pathogenic 1032916 GRCh37: 19:8656994-8656994
GRCh38: 19:8592110-8592110
14 FBN1 NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) Deletion Likely pathogenic 163474 rs727503056 GRCh37: 15:48760164-48760207
GRCh38: 15:48467967-48468010
15 LTBP2 NM_000428.3(LTBP2):c.*1743C>T SNV Uncertain significance 314247 rs781717691 GRCh37: 14:74965844-74965844
GRCh38: 14:74499141-74499141
16 LTBP2 NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) SNV Uncertain significance 314305 rs139018077 GRCh37: 14:75002697-75002697
GRCh38: 14:74535994-74535994
17 FBN1 NM_000138.4(FBN1):c.1602T>C (p.Cys534=) SNV Uncertain significance 316384 rs377386372 GRCh37: 15:48802353-48802353
GRCh38: 15:48510156-48510156
18 LTBP2 NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) SNV Uncertain significance 314312 rs200471693 GRCh37: 14:75019655-75019655
GRCh38: 14:74552952-74552952
19 FBN1 NM_000138.4(FBN1):c.-132A>C SNV Uncertain significance 316396 rs886051255 GRCh37: 15:48937098-48937098
GRCh38: 15:48644901-48644901
20 LTBP2 NM_000428.3(LTBP2):c.*2026T>C SNV Uncertain significance 314244 rs886050748 GRCh37: 14:74965561-74965561
GRCh38: 14:74498858-74498858
21 LTBP2 NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) SNV Uncertain significance 314267 rs886050755 GRCh37: 14:74968195-74968195
GRCh38: 14:74501492-74501492
22 LTBP2 NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) SNV Uncertain significance 314296 rs142675579 GRCh37: 14:74988631-74988631
GRCh38: 14:74521928-74521928
23 LTBP2 NM_000428.3(LTBP2):c.2788+14G>A SNV Uncertain significance 314295 rs753628301 GRCh37: 14:74988600-74988600
GRCh38: 14:74521897-74521897
24 FBN1 NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) SNV Uncertain significance 316390 rs886051251 GRCh37: 15:48829955-48829955
GRCh38: 15:48537758-48537758
25 FBN1 NM_000138.4(FBN1):c.*1706C>A SNV Uncertain significance 316324 rs770825180 GRCh37: 15:48701481-48701481
GRCh38: 15:48409284-48409284
26 LTBP2 NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) SNV Uncertain significance 314287 rs759008893 GRCh37: 14:74976869-74976869
GRCh38: 14:74510166-74510166
27 LTBP2 NM_000428.3(LTBP2):c.-64C>T SNV Uncertain significance 314323 rs886050762 GRCh37: 14:75078711-75078711
GRCh38: 14:74612008-74612008
28 ADAMTS10 NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) SNV Uncertain significance 330602 rs150203950 GRCh37: 19:8657665-8657665
GRCh38: 19:8592781-8592781
29 LTBP2 NM_000428.3(LTBP2):c.*638T>G SNV Uncertain significance 314256 rs886050750 GRCh37: 14:74966949-74966949
GRCh38: 14:74500246-74500246
30 LTBP2 NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) SNV Uncertain significance 314270 rs139030976 GRCh37: 14:74969989-74969989
GRCh38: 14:74503286-74503286
31 LTBP2 NM_000428.3(LTBP2):c.-222C>G SNV Uncertain significance 314326 rs886050764 GRCh37: 14:75078869-75078869
GRCh38: 14:74612166-74612166
32 FBN1 NM_000138.4(FBN1):c.-387_-384delTCTC Microsatellite Uncertain significance 316400 rs886051258 GRCh37: 15:48937974-48937977
GRCh38: 15:48645777-48645780
33 ADAMTS10 NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) SNV Uncertain significance 330594 rs886054714 GRCh37: 19:8654383-8654383
GRCh38: 19:8589499-8589499
34 LTBP2 NM_000428.3(LTBP2):c.*147A>T SNV Uncertain significance 314262 rs886050753 GRCh37: 14:74967440-74967440
GRCh38: 14:74500737-74500737
35 LTBP2 NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) SNV Uncertain significance 314319 rs773927709 GRCh37: 14:75078638-75078638
GRCh38: 14:74611935-74611935
36 FBN1 NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) SNV Uncertain significance 316373 rs886051248 GRCh37: 15:48748851-48748851
GRCh38: 15:48456654-48456654
37 FBN1 NM_000138.4(FBN1):c.-70C>A SNV Uncertain significance 316394 rs886051253 GRCh37: 15:48937036-48937036
GRCh38: 15:48644839-48644839
38 LTBP2 NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) SNV Uncertain significance 314316 rs149952751 GRCh37: 14:75052587-75052587
GRCh38: 14:74585884-74585884
39 ADAMTS10 NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) SNV Uncertain significance 330608 rs782449192 GRCh37: 19:8662178-8662178
GRCh38: 19:8597294-8597294
40 LTBP2 NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) SNV Uncertain significance 314288 rs149991486 GRCh37: 14:74976898-74976898
GRCh38: 14:74510195-74510195
41 ADAMTS10 NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) SNV Uncertain significance 330591 rs550588972 GRCh37: 19:8654159-8654159
GRCh38: 19:8589275-8589275
42 LTBP2 NM_000428.3(LTBP2):c.*229C>T SNV Uncertain significance 314259 rs141989493 GRCh37: 14:74967358-74967358
GRCh38: 14:74500655-74500655
43 LTBP2 NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) SNV Uncertain significance 314281 rs757843416 GRCh37: 14:74975401-74975401
GRCh38: 14:74508698-74508698
44 FBN1 NM_000138.4(FBN1):c.*268G>C SNV Uncertain significance 316356 rs886051242 GRCh37: 15:48702919-48702919
GRCh38: 15:48410722-48410722
45 LTBP2 NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) SNV Uncertain significance 314309 rs553562104 GRCh37: 14:75017922-75017922
GRCh38: 14:74551219-74551219
46 FBN1 NM_000138.4(FBN1):c.*2421C>A SNV Uncertain significance 316304 rs886051224 GRCh37: 15:48700766-48700766
GRCh38: 15:48408569-48408569
47 LTBP2 NM_000428.3(LTBP2):c.*1302G>C SNV Uncertain significance 314250 rs191692241 GRCh37: 14:74966285-74966285
GRCh38: 14:74499582-74499582
48 ADAMTS10 NM_030957.4(ADAMTS10):c.*322C>T SNV Uncertain significance 330571 rs886054708 GRCh37: 19:8645455-8645455
GRCh38: 19:8580571-8580571
49 LTBP2 NM_000428.3(LTBP2):c.*1518_*1520dup Duplication Uncertain significance 314249 rs565536636 GRCh37: 14:74966066-74966067
GRCh38: 14:74499363-74499364
50 FBN1 NM_000138.4(FBN1):c.4336+11G>A SNV Uncertain significance 316374 rs886051249 GRCh37: 15:48764737-48764737
GRCh38: 15:48472540-48472540

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
2
Show member pathways
13.54 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
3
Show member pathways
12.9 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
4
Show member pathways
12.62 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
5
Show member pathways
12.54 TNF TBRG1 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.12 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
7
Show member pathways
12.1 TNF TBRG1 LTBP3 LTBP2 LTBP1
8 11.71 TNF THSD4 LTBP1 FBN1
9
Show member pathways
11.66 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
10
Show member pathways
11.54 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
11 11.53 TBRG1 LTBP3 LTBP2 LTBP1
12
Show member pathways
11.49 THSD4 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
13 11.05 LTBP2 LTBP1 FBN3 FBN2 FBN1
14 10.91 TNF TBRG1 LTBP3 LTBP2 LTBP1 FBN3

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 9.91 TNF THSD4 PAPLN LTBP3 LTBP2 LTBP1
2 collagen-containing extracellular matrix GO:0062023 9.9 THSD4 LTBP3 LTBP2 LTBP1 FBN3 FBN2
3 microfibril GO:0001527 9.65 THSD4 LTBP1 FBN2 FBN1 ADAMTS10
4 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 ADAMTSL4 ADAMTSL1
5 extracellular matrix GO:0031012 9.53 THSD4 PAPLN LTBP2 LTBP1 FBN3 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 9.7 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 skeletal system development GO:0001501 9.58 LTBP3 FBN1 ADAMTS4
3 anatomical structure morphogenesis GO:0009653 9.54 FBN3 FBN2 FBN1
4 extracellular matrix organization GO:0030198 9.47 TNF THSD4 PAPLN FBN2 FBN1 ADAMTSL4
5 sequestering of TGFbeta in extracellular matrix GO:0035583 9.33 LTBP1 FBN2 FBN1
6 elastic fiber assembly GO:0048251 9.32 THSD4 LTBP3
7 embryonic eye morphogenesis GO:0048048 9.26 FBN2 FBN1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.04 THSD4 ADAMTSL1 ADAMTS6 ADAMTS4 ADAMTS2 ADAMTS17
2 calcium ion binding GO:0005509 9.85 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
3 peptidase activity GO:0008233 9.83 ADAMTS6 ADAMTS4 ADAMTS2 ADAMTS17 ADAMTS10
4 metallopeptidase activity GO:0008237 9.65 ADAMTS6 ADAMTS4 ADAMTS2 ADAMTS17 ADAMTS10
5 protease binding GO:0002020 9.63 TNF ADAMTSL4 ADAMTS4
6 growth factor binding GO:0019838 9.5 LTBP3 LTBP2 LTBP1
7 transforming growth factor beta binding GO:0050431 9.48 LTBP3 LTBP1
8 extracellular matrix structural constituent GO:0005201 9.43 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
9 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN2 FBN1
10 metalloendopeptidase activity GO:0004222 9.36 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
11 microfibril binding GO:0050436 9.33 LTBP2 LTBP1 ADAMTSL2

Sources for Weill-Marchesani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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