WMS2
MCID: WLL037
MIFTS: 34

Weill-Marchesani Syndrome 2 (WMS2)

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

Aliases & Classifications for Weill-Marchesani Syndrome 2

MalaCards integrated aliases for Weill-Marchesani Syndrome 2:

Name: Weill-Marchesani Syndrome 2 57 72 29 6
Weill-Marchesani Syndrome 2, Dominant 57 29 13
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 57 72
Weill-Marchesani Syndrome, Autosomal Dominant 57 70
Spherophakia-Brachymorphia Syndrome 57 72
Gemss Syndrome 58 70
Gemss 57 72
Wms2 57 72
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome 58
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Gemss 57
Weill-Marchesani Syndrome, Autosomal Recessive 70
Autosomal Dominant Weill-Marchesani Syndrome 72
Mesodermal Dysmorphodystrophy, Congenital 57
Congenital Mesodermal Dysmorphodystrophy 72
Weill-Marchesani Syndrome, Type 2 39
Weill-Marchesani Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
see for a phenotypically similar autosomal recessive form


HPO:

31
weill-marchesani syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608328
OMIM Phenotypic Series 57 PS277600
MeSH 44 D056846
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 71 C1869115 C2931588
Orphanet 58 ORPHA2084
MedGen 41 C1869115
UMLS 70 C0265313 C1869114 C1869115 more

Summaries for Weill-Marchesani Syndrome 2

OMIM® : 57 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600. (608328) (Updated 20-May-2021)

MalaCards based summary : Weill-Marchesani Syndrome 2, also known as weill-marchesani syndrome 2, dominant, is related to weill-marchesani syndrome and weill-marchesani syndrome 1, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 2 is FBN1 (Fibrillin 1). Affiliated tissues include eye and cortex, and related phenotypes are short stature and ectopia lentis

UniProtKB/Swiss-Prot : 72 Weill-Marchesani syndrome 2: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.

Related Diseases for Weill-Marchesani Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 11.6
2 weill-marchesani syndrome 1 11.6
3 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.4
4 marfan syndrome 10.3
5 intraocular pressure quantitative trait locus 10.3
6 brachydactyly 10.3
7 geleophysic dysplasia 10.3
8 myopia 10.3
9 adamtsl4-related eye disorders 10.3
10 dwarfism with stiff joints and ocular abnormalities 9.9
11 scleroderma, familial progressive 9.9

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome 2:



Diseases related to Weill-Marchesani Syndrome 2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 2

Human phenotypes related to Weill-Marchesani Syndrome 2:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 ectopia lentis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001083
3 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
4 scoliosis 31 HP:0002650
5 cataract 31 HP:0000518
6 depressed nasal bridge 31 HP:0005280
7 narrow palate 31 HP:0000189
8 joint stiffness 31 HP:0001387
9 blindness 31 HP:0000618
10 intellectual disability, mild 31 HP:0001256
11 brachycephaly 31 HP:0000248
12 broad ribs 31 HP:0000885
13 mitral regurgitation 31 HP:0001653
14 hypoplasia of the maxilla 31 HP:0000327
15 brachydactyly 31 HP:0001156
16 patent ductus arteriosus 31 HP:0001643
17 spinal canal stenosis 31 HP:0003416
18 ventricular septal defect 31 HP:0001629
19 pulmonic stenosis 31 HP:0001642
20 abnormality of dental morphology 31 HP:0006482
21 thickened skin 31 HP:0001072
22 misalignment of teeth 31 HP:0000692
23 broad palm 31 HP:0001169
24 aortic valve stenosis 31 HP:0001650
25 high myopia 31 HP:0011003
26 broad metatarsal 31 HP:0001783
27 proportionate short stature 31 HP:0003508
28 broad metacarpals 31 HP:0001230
29 lumbar hyperlordosis 31 HP:0002938
30 shallow orbits 31 HP:0000586
31 thin bony cortex 31 HP:0002753
32 broad skull 31 HP:0002682
33 broad phalanges of the hand 31 HP:0009768
34 shallow anterior chamber 31 HP:0000594
35 microspherophakia 31 HP:0030961

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

Head And Neck Mouth:
narrow palate

Head And Neck Head:
brachycephaly

Cardiovascular Heart:
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
mitral valve insufficiency
ductus arteriosus
more
Head And Neck Face:
maxillary hypoplasia

Head And Neck Teeth:
malaligned teeth
malformed teeth

Chest Ribs Sternum Clavicles And Scapulae:
wide ribs

Skeletal:
joint stiffness (hands, shoulder, elbows, knees, and ankles)
joint limitations

Skin Nails Hair Skin:
thick skin (74%)

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
blindness
shallow anterior chamber
severe myopia
glaucoma (in 80% of patients)
ectopia lentis (84%)
more
Skeletal Hands:
brachydactyly
broad metacarpals
broad phalanges
broad hands

Skeletal Skull:
broad skull
small shallow orbits

Growth Height:
short stature, proportionate
adult male height 142-169 cm
adult female height 130-157 cm

Skeletal Limbs:
thin cortices

Growth Other:
muscular build

Skeletal Feet:
broad metatarsals

Neurologic Central Nervous System:
mental retardation, mild (18%)

Clinical features from OMIM®:

608328 (Updated 20-May-2021)

UMLS symptoms related to Weill-Marchesani Syndrome 2:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 2

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome 2

Genetic Tests for Weill-Marchesani Syndrome 2

Genetic tests related to Weill-Marchesani Syndrome 2:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 2 29 FBN1
2 Weill-Marchesani Syndrome 2, Dominant 29

Anatomical Context for Weill-Marchesani Syndrome 2

MalaCards organs/tissues related to Weill-Marchesani Syndrome 2:

40
Eye, Cortex

Publications for Weill-Marchesani Syndrome 2

Articles related to Weill-Marchesani Syndrome 2:

# Title Authors PMID Year
1
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 6 57
12525539 2003
2
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 57
14598350 2003
3
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. 57
11941487 2002
4
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. 57
8914744 1996
5
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. 57
1519650 1992
6
Weill-Marchesani syndrome in mother and son. 57
3493095 1986
7
Spherophakia with brachydactyly; comparison with Marfan's syndrome. 57
13104565 1953
8
Angle closure in highly myopic eyes. 61
16427698 2006
9
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 61
12951794 2003

Variations for Weill-Marchesani Syndrome 2

ClinVar genetic disease variations for Weill-Marchesani Syndrome 2:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) Deletion Pathogenic 16459 rs1555396783 GRCh37: 15:48755406-48755429
GRCh38: 15:48463209-48463232
2 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
3 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
4 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
5 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
6 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
7 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
8 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
9 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
10 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
11 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
12 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
13 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
14 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
15 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
16 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
17 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
18 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
19 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
20 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
21 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
22 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
23 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
24 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
25 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
26 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 36074 rs61730054 GRCh37: 15:48762849-48762849
GRCh38: 15:48470652-48470652
27 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) SNV Uncertain significance 42356 rs377338217 GRCh37: 15:48764778-48764778
GRCh38: 15:48472581-48472581
28 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 GRCh37: 15:48787397-48787397
GRCh38: 15:48495200-48495200
29 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 GRCh37: 15:48789550-48789550
GRCh38: 15:48497353-48497353
30 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 GRCh37: 15:48826346-48826346
GRCh38: 15:48534149-48534149
31 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 GRCh37: 15:48936798-48936798
GRCh38: 15:48644601-48644601
32 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 GRCh37: 15:48936884-48936884
GRCh38: 15:48644687-48644687
33 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 GRCh37: 15:48703571-48703571
GRCh38: 15:48411374-48411374
34 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 GRCh37: 15:48707757-48707757
GRCh38: 15:48415560-48415560
35 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 GRCh37: 15:48707932-48707932
GRCh38: 15:48415735-48415735
36 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 GRCh37: 15:48760155-48760155
GRCh38: 15:48467958-48467958
37 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) SNV Uncertain significance 501654 rs368650399 GRCh37: 15:48762932-48762932
GRCh38: 15:48470735-48470735
38 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) SNV Uncertain significance 42355 rs201273753 GRCh37: 15:48764814-48764814
GRCh38: 15:48472617-48472617
39 FBN1 NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) SNV Uncertain significance 992537 GRCh37: 15:48722990-48722990
GRCh38: 15:48430793-48430793
40 FBN1 NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) SNV Uncertain significance 429319 rs1131691317 GRCh37: 15:48780690-48780690
GRCh38: 15:48488493-48488493
41 FBN1 NM_000138.4(FBN1):c.5885A>G (p.Tyr1962Cys) SNV Uncertain significance 570737 rs1346043320 GRCh37: 15:48737605-48737605
GRCh38: 15:48445408-48445408
42 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) SNV Uncertain significance 42370 rs148888513 GRCh37: 15:48758053-48758053
GRCh38: 15:48465856-48465856
43 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 GRCh37: 15:48756163-48756163
GRCh38: 15:48463966-48463966
44 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 GRCh37: 15:48760729-48760729
GRCh38: 15:48468532-48468532
45 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837
46 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) SNV Uncertain significance 549070 rs1555399361 GRCh37: 15:48789469-48789469
GRCh38: 15:48497272-48497272
47 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) SNV Uncertain significance 626101 rs1290478839 GRCh37: 15:48720583-48720583
GRCh38: 15:48428386-48428386
48 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) SNV Uncertain significance 199947 rs138438849 GRCh37: 15:48782196-48782196
GRCh38: 15:48489999-48489999
49 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) SNV Uncertain significance 495593 rs144339604 GRCh37: 15:48779510-48779510
GRCh38: 15:48487313-48487313
50 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Uncertain significance 16451 rs137854475 GRCh37: 15:48779352-48779352
GRCh38: 15:48487155-48487155

Expression for Weill-Marchesani Syndrome 2

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 2.

Pathways for Weill-Marchesani Syndrome 2

GO Terms for Weill-Marchesani Syndrome 2

Sources for Weill-Marchesani Syndrome 2

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
Content
Loading form....