WMS
MCID: WLL002
MIFTS: 56

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 52 25 58 36 29 6 43 15 71
Spherophakia-Brachymorphia Syndrome 52 25 58
Gemss Syndrome 12 74 71
Marchesani-Weill Syndrome 12 25
Wms 52 25
Weill-Marchesani Syndrome, Autosomal Recessive 71
Weill-Marchesani Syndrome, Autosomal Dominant 71
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 52
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 52

Characteristics:

Orphanet epidemiological data:

58
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:

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


External Ids:

Disease Ontology 12 DOID:0050475
KEGG 36 H00673
MeSH 43 D056846
NCIt 49 C85226
SNOMED-CT 67 2884008
MESH via Orphanet 44 D056846
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C0265313
Orphanet 58 ORPHA3449
UMLS 71 C0265313 C1869114 C1869115 more

Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : 52 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 FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and ERK Signaling. 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.

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. 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 : 74 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 150)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 1 35.5 LTBP2 ADAMTS10
2 ectopia lentis 2, isolated, autosomal recessive 32.8 THSD4 FBN1 ADAMTSL4 ADAMTS10
3 myopia 31.7 LTBP2 FBN2 FBN1 ADAMTS17 ADAMTS10
4 brachydactyly 31.6 LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5 lens subluxation 31.1 LTBP2 FBN1 ADAMTSL4 ADAMTS17 ADAMTS10
6 ectopia lentis 1, isolated, autosomal dominant 30.9 THSD4 FBN1 ADAMTSL4 ADAMTS10
7 acromicric dysplasia 30.8 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
8 isolated ectopia lentis 30.8 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
9 marfan syndrome 30.8 THSD4 LTBP2 LTBP1 LOC113939944 FBN3 FBN2
10 connective tissue disease 30.4 TNF FBN2 FBN1 ADAMTSL1
11 tracheal stenosis 30.4 TBRG1 LTBP3 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
12 aortic aneurysm, familial thoracic 1 30.3 LTBP3 LTBP2 LTBP1 FBN2 FBN1 ADAMTS4
13 megalocornea 29.9 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
14 geleophysic dysplasia 28.1 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
15 weill-marchesani syndrome 2 13.2
16 weill-marchesani syndrome 3 13.1
17 weill-marchesani syndrome 4 13.1
18 waldenstroem's macroglobulinemia 12.2
19 lymphoplasmacytic lymphoma 12.0
20 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.6
21 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.6
22 tibia, hypoplasia or aplasia of, with polydactyly 11.6
23 williams-beuren syndrome 11.5
24 macroglobulinemia, waldenstrom 1 11.5
25 joint laxity, short stature, and myopia 10.9
26 intraocular pressure quantitative trait locus 10.9
27 macroglobulinemia 10.6
28 chronic closed-angle glaucoma 10.6
29 isolated microspherophakia 10.5 LTBP2 ADAMTS10
30 aortic aneurysm, familial thoracic 2 10.5 FBN2 FBN1
31 aortic dissection 10.5
32 acute closed-angle glaucoma 10.5
33 mitral valve stenosis 10.5
34 aortic disease 10.5
35 cataract 10.5
36 acromelic dysplasia 10.5
37 nontuberculous mycobacterial lung disease 10.5 TNF FBN1
38 tricuspid valve prolapse 10.5 FBN2 FBN1
39 marden-walker syndrome 10.4 FBN2 FBN1
40 temporal lobe epilepsy 10.4
41 traumatic brain injury 10.4
42 postural orthostatic tachycardia syndrome 10.4 FBN2 FBN1
43 familial thoracic aortic aneurysm and aortic dissection 10.4 LOC113939944 FBN2 FBN1
44 cutis laxa, autosomal recessive, type ic 10.4 LTBP3 LTBP2
45 iris disease 10.3 LTBP3 LTBP2 FBN1
46 lens disease 10.3 TNF FBN1 ADAMTSL4
47 carpal tunnel syndrome 10.3
48 dwarfism with stiff joints and ocular abnormalities 10.3
49 osteoporosis 10.3
50 retinal detachment 10.3

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 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
7 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
8 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 ADAMTS6 ADAMTSL2 ADAMTSL5 FBN1 FBN2 LTBP1
2 skeleton MP:0005390 9.32 ADAMTS10 ADAMTS4 ADAMTS6 ADAMTSL2 ADAMTSL5 FBN1

Drugs & Therapeutics for Weill-Marchesani Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668

Search 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, Skin, Thyroid, Endothelial

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 154)
# Title Authors PMID Year
1
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 6 24 61
22539340 2012
2
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 6 24 61
19836009 2009
3
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 61 24 6
15368195 2004
4
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. 6 61
18567016 2008
5
Weill-Marchesani Syndrome 61 6
20301293 2007
6
ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. 61 24
21402694 2011
7
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. 24 61
22606482 2011
8
A homozygous mutation in LTBP2 causes isolated microspherophakia. 61 24
20617341 2010
9
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. 61 24
19696795 2009
10
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 24 61
17718856 2007
11
Weill-Marchesani syndrome associated with retinitis pigmentosa. 24 61
17322607 2007
12
Central corneal thickness in patients with Weill-Marchesani syndrome. 24 61
16935606 2006
13
ADAMTS proteinases: potential therapeutic targets? 24 61
16472131 2006
14
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. 61 24
16749567 2006
15
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. 61 24
15478742 2004
16
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 24 61
14598350 2003
17
Angle closure in younger patients. 61 24
14522758 2003
18
Airway management of a patient with Weill-Marchesani syndrome. 61 24
12770659 2003
19
Anesthetic management of a patient with Weill-Marchesani syndrome. 24 61
12648208 2003
20
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 61 24
12525539 2003
21
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. 24 61
11941487 2002
22
Angle closure in younger patients. 61 24
12545694 2002
23
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. 24 61
11149617 2000
24
Weill-Marchesani syndrome in three generations. 24 61
10707143 1999
25
Congenital ectopia lentis. A Danish national survey. 24 61
9541430 1998
26
Possible genetic carriers in the spherophakia-brachymorphia syndrome. 24 61
13275462 1955
27
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 24
21683322 2011
28
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. 24
22025892 2011
29
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 24
20179738 2010
30
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. 24
1519650 1992
31
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 61
31726086 2020
32
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases. 61
32290605 2020
33
[A case of secondary glaucoma in Weill-Marchesani syndrome]. 61
31973976 2020
34
Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. 61
31201465 2019
35
Weill-Marchesani Syndrome with Secondary Angle Closure Glaucoma. 61
31688372 2019
36
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. 61
31019231 2019
37
Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. 61
30415012 2019
38
Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage. 61
30201140 2019
39
Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome. 61
31114122 2019
40
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. 61
30060141 2018
41
[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay]. 61
30440138 2018
42
Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma. 61
30380740 2018
43
The RECK tumor-suppressor protein binds and stabilizes ADAMTS10. 61
30287421 2018
44
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 61
29191498 2018
45
Fibrillins. 61
29310780 2018
46
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. 61
28696036 2017
47
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. 61
26966104 2016
48
ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions. 61
27779234 2016
49
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 61
27437668 2016
50
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61
27068007 2016

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

6 (show top 50) (show all 557) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)deletion Likely pathogenic 163474 rs727503056 15:48760164-48760207 15:48467967-48468010
2 FBN1 NM_000138.5(FBN1):c.247+10T>CSNV Conflicting interpretations of pathogenicity 178035 rs367618012 15:48905197-48905197 15:48613000-48613000
3 FBN1 NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)SNV Conflicting interpretations of pathogenicity 161244 rs146726731 15:48812976-48812976 15:48520779-48520779
4 FBN1 NM_000138.4(FBN1):c.5917+3A>GSNV Conflicting interpretations of pathogenicity 199950 rs202158568 15:48737570-48737570 15:48445373-48445373
5 FBN1 NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg)SNV Conflicting interpretations of pathogenicity 200041 rs767606368 15:48764870-48764870 15:48472673-48472673
6 FBN1 NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)SNV Conflicting interpretations of pathogenicity 200027 rs200342067 15:48773926-48773926 15:48481729-48481729
7 FBN1 NM_000138.4(FBN1):c.3590-8T>CSNV Conflicting interpretations of pathogenicity 137306 rs140600 15:48777701-48777701 15:48485504-48485504
8 FBN1 NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)SNV Conflicting interpretations of pathogenicity 161237 rs143677764 15:48707938-48707938 15:48415741-48415741
9 FBN1 NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)SNV Conflicting interpretations of pathogenicity 42408 rs363824 15:48725121-48725121 15:48432924-48432924
10 FBN1 NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
11 FBN1 NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)SNV Conflicting interpretations of pathogenicity 42335 rs140396599 15:48779549-48779549 15:48487352-48487352
12 FBN1 NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)SNV Conflicting interpretations of pathogenicity 42439 rs145105768 15:48704921-48704921 15:48412724-48412724
13 LTBP2 NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)SNV Conflicting interpretations of pathogenicity 126949 rs137854861 14:75018994-75018994 14:74552291-74552291
14 FBN1 NM_000138.4(FBN1):c.-176A>TSNV Conflicting interpretations of pathogenicity 137300 rs560004254 15:48937142-48937142 15:48644945-48644945
15 FBN1 NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)SNV Conflicting interpretations of pathogenicity 237106 rs187553035 15:48704843-48704843 15:48412646-48412646
16 FBN1 NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)SNV Conflicting interpretations of pathogenicity 237089 rs779913610 15:48773880-48773880 15:48481683-48481683
17 FBN1 NM_000138.4(FBN1):c.1884C>T (p.Cys628=)SNV Conflicting interpretations of pathogenicity 237081 rs150421653 15:48797298-48797298 15:48505101-48505101
18 FBN1 NM_000138.4(FBN1):c.783T>C (p.Asn261=)SNV Conflicting interpretations of pathogenicity 237105 rs113721547 15:48826356-48826356 15:48534159-48534159
19 FBN1 NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)SNV Conflicting interpretations of pathogenicity 199954 rs370096856 15:48704807-48704807 15:48412610-48412610
20 FBN1 NM_000138.4(FBN1):c.902G>T (p.Gly301Val)SNV Conflicting interpretations of pathogenicity 199960 rs142888621 15:48818413-48818413 15:48526216-48526216
21 FBN1 NM_000138.5(FBN1):c.6314-15G>ASNV Conflicting interpretations of pathogenicity 228686 rs200841830 15:48729599-48729599 15:48437402-48437402
22 FBN1 NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys)SNV Conflicting interpretations of pathogenicity 255306 rs201361628 15:48726830-48726830 15:48434633-48434633
23 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)SNV Conflicting interpretations of pathogenicity 263832 rs143007898 15:48703440-48703440 15:48411243-48411243
24 FBN1 NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)SNV Conflicting interpretations of pathogenicity 263431 rs149697299 15:48719912-48719912 15:48427715-48427715
25 FBN1 NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)SNV Conflicting interpretations of pathogenicity 263632 rs375996640 15:48780684-48780684 15:48488487-48488487
26 FBN1 NM_000138.4(FBN1):c.2094G>T (p.Pro698=)SNV Conflicting interpretations of pathogenicity 264529 rs144775475 15:48796003-48796003 15:48503806-48503806
27 FBN1 NM_000138.4(FBN1):c.4998C>T (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 281682 rs141925790 15:48756163-48756163 15:48463966-48463966
28 LTBP2 NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=)SNV Conflicting interpretations of pathogenicity 314270 rs139030976 14:74969989-74969989 14:74503286-74503286
29 LTBP2 NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)SNV Conflicting interpretations of pathogenicity 314271 rs143456909 14:74970271-74970271 14:74503568-74503568
30 LTBP2 NM_000428.3(LTBP2):c.3527-3C>ASNV Conflicting interpretations of pathogenicity 314282 rs138194436 14:74975435-74975435 14:74508732-74508732
31 LTBP2 NM_000428.3(LTBP2):c.2789-9T>CSNV Conflicting interpretations of pathogenicity 314293 rs368269193 14:74983653-74983653 14:74516950-74516950
32 LTBP2 NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)SNV Conflicting interpretations of pathogenicity 314299 rs140719298 14:74989611-74989611 14:74522908-74522908
33 FBN1 NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)SNV Conflicting interpretations of pathogenicity 16445 rs61746008 15:48704816-48704816 15:48412619-48412619
34 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
35 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977
36 FBN1 NM_000138.5(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
37 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104
38 FBN1 NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
39 FBN1 NM_000138.5(FBN1):c.2175T>C (p.Asn725=)SNV Conflicting interpretations of pathogenicity 42298 rs140606 15:48789581-48789581 15:48497384-48497384
40 FBN1 NM_000138.5(FBN1):c.2895G>A (p.Glu965=)SNV Conflicting interpretations of pathogenicity 42320 rs140591 15:48782235-48782235 15:48490038-48490038
41 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
42 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
43 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
44 FBN1 NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)SNV Conflicting interpretations of pathogenicity 457262 rs756295016 15:48714203-48714203 15:48422006-48422006
45 FBN1 NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)SNV Conflicting interpretations of pathogenicity 457184 rs747713929 15:48782180-48782180 15:48489983-48489983
46 FBN1 NM_000138.4(FBN1):c.7560G>A (p.Thr2520=)SNV Conflicting interpretations of pathogenicity 457263 rs760425899 15:48714159-48714159 15:48421962-48421962
47 FBN1 NM_000138.4(FBN1):c.4211-10C>TSNV Conflicting interpretations of pathogenicity 457205 rs28730793 15:48764883-48764883 15:48472686-48472686
48 FBN1 NM_000138.4(FBN1):c.5826C>A (p.Cys1942Ter)SNV Conflicting interpretations of pathogenicity 547334 rs363806 15:48737664-48737664 15:48445467-48445467
49 FBN1 NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)SNV Conflicting interpretations of pathogenicity 495607 rs372118067 15:48764763-48764763 15:48472566-48472566
50 FBN1 NM_000138.4(FBN1):c.7820-4G>ASNV Conflicting interpretations of pathogenicity 514647 rs750036723 15:48707968-48707968 15:48415771-48415771

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2
Show member pathways
13.62 TNF TBRG1 LTBP3 LTBP2 LTBP1 FBN3
3
Show member pathways
13.54 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
4
Show member pathways
12.9 TBRG1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
5
Show member pathways
12.6 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
6
Show member pathways
12.54 TNF TBRG1 LTBP3 LTBP2 LTBP1
7
Show member pathways
12.12 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
8
Show member pathways
12.1 TNF TBRG1 LTBP3 LTBP2 LTBP1
9 11.71 TNF THSD4 LTBP1 FBN1
10
Show member pathways
11.66 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
11
Show member pathways
11.54 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
12 11.53 TBRG1 LTBP3 LTBP2 LTBP1
13
Show member pathways
11.49 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
14 11.05 LTBP2 LTBP1 FBN3 FBN2 FBN1
15 10.87 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 collagen-containing extracellular matrix GO:0062023 9.91 THSD4 LTBP3 LTBP2 LTBP1 FBN2 FBN1
2 extracellular region GO:0005576 9.91 TNF THSD4 PAPLN LTBP3 LTBP2 LTBP1
3 microfibril GO:0001527 9.63 THSD4 LTBP1 FBN2 FBN1 ADAMTSL5 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 9.65 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 skeletal system development GO:0001501 9.63 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 ADAMTSL5
5 coronary vasculature development GO:0060976 9.43 LTBP1 ADAMTS6
6 aorta development GO:0035904 9.4 LTBP1 ADAMTS6
7 sequestering of TGFbeta in extracellular matrix GO:0035583 9.33 LTBP1 FBN2 FBN1
8 elastic fiber assembly GO:0048251 9.32 THSD4 LTBP3
9 embryonic eye morphogenesis GO:0048048 9.26 FBN2 FBN1

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 9.88 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
2 peptidase activity GO:0008233 9.65 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3 protease binding GO:0002020 9.63 TNF ADAMTSL4 ADAMTS4
4 extracellular matrix structural constituent GO:0005201 9.63 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
5 metallopeptidase activity GO:0008237 9.62 ADAMTS6 ADAMTS4 ADAMTS17 ADAMTS10
6 growth factor binding GO:0019838 9.54 LTBP3 LTBP2 LTBP1
7 transforming growth factor beta binding GO:0050431 9.48 LTBP3 LTBP1
8 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN2 FBN1
9 microfibril binding GO:0050436 9.43 LTBP2 LTBP1 ADAMTSL2
10 metalloendopeptidase activity GO:0004222 9.36 THSD4 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2

Sources for Weill-Marchesani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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