WMS2
MCID: WLL037
MIFTS: 35

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 56 73 29 6
Weill-Marchesani Syndrome 2, Dominant 56 29 13
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 56 73
Weill-Marchesani Syndrome, Autosomal Dominant 56 71
Spherophakia-Brachymorphia Syndrome 56 73
Gemss Syndrome 58 71
Gemss 56 73
Wms2 56 73
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome 58
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Gemss 56
Weill-Marchesani Syndrome, Autosomal Recessive 71
Autosomal Dominant Weill-Marchesani Syndrome 73
Mesodermal Dysmorphodystrophy, Congenital 56
Congenital Mesodermal Dysmorphodystrophy 73
Weill-Marchesani Syndrome, Type 2 39
Weill-Marchesani Syndrome 71

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:

56
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 56 608328
OMIM Phenotypic Series 56 PS277600
MeSH 43 D056846
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1869115 C2931588
Orphanet 58 ORPHA2084
MedGen 41 C1869115
UMLS 71 C0265313 C1869114 C1869115 more

Summaries for Weill-Marchesani Syndrome 2

OMIM : 56 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)

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, skin and cortex, and related phenotypes are short stature and ectopia lentis

UniProtKB/Swiss-Prot : 73 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

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 cataract 31 HP:0000518
5 depressed nasal bridge 31 HP:0005280
6 narrow palate 31 HP:0000189
7 scoliosis 31 HP:0002650
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 thickened skin 31 HP:0001072
14 mitral regurgitation 31 HP:0001653
15 hypoplasia of the maxilla 31 HP:0000327
16 brachydactyly 31 HP:0001156
17 patent ductus arteriosus 31 HP:0001643
18 spinal canal stenosis 31 HP:0003416
19 ventricular septal defect 31 HP:0001629
20 pulmonic stenosis 31 HP:0001642
21 abnormality of dental morphology 31 HP:0006482
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:

56
Head And Neck Nose:
depressed nasal bridge

Skeletal Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

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 Mouth:
narrow palate

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

UMLS symptoms related to Weill-Marchesani Syndrome 2:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 2

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 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, Skin, 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 56
12525539 2003
2
Weill-Marchesani Syndrome 6
20301293 2007
3
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 56
14598350 2003
4
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. 56
11941487 2002
5
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. 56
8914744 1996
6
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. 56
1519650 1992
7
Weill-Marchesani syndrome in mother and son. 56
3493095 1986
8
Spherophakia with brachydactyly; comparison with Marfan's syndrome. 56
13104565 1953
9
Angle closure in highly myopic eyes. 61
16427698 2006
10
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 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
2 FBN1 NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del)deletion Pathogenic 16459 rs1555396783 15:48755406-48755429 15:48463209-48463232
3 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
4 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
5 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
6 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
7 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)SNV Pathogenic/Likely pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
8 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)SNV Pathogenic/Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
9 FBN1 NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)SNV Pathogenic/Likely pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
10 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)SNV Pathogenic/Likely pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
11 FBN1 NM_000138.4(FBN1):c.4460-8G>ASNV Pathogenic/Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
12 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)SNV Pathogenic/Likely pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
13 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
14 FBN1 NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)SNV Pathogenic/Likely pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
15 FBN1 NM_000138.5(FBN1):c.1468+5G>ASNV Pathogenic/Likely pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
16 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
17 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)SNV Pathogenic/Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
18 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)SNV Pathogenic/Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
19 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
20 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
21 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)duplication Likely pathogenic 828001 15:48902952-48902953 15:48610755-48610756
22 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
23 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
24 FBN1 NM_000138.4(FBN1):c.5546-1G>ASNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
25 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
26 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
27 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
28 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)SNV Conflicting interpretations of pathogenicity 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
29 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)SNV Conflicting interpretations of pathogenicity 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
30 FBN1 NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)SNV Conflicting interpretations of pathogenicity 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
31 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)SNV Conflicting interpretations of pathogenicity 199947 rs138438849 15:48782196-48782196 15:48489999-48489999
32 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 381319 rs141925790 15:48756163-48756163 15:48463966-48463966
33 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)SNV Uncertain significance 237085 rs878853678 15:48789550-48789550 15:48497353-48497353
34 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)SNV Uncertain significance 200054 rs776625874 15:48760155-48760155 15:48467958-48467958
35 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)SNV Uncertain significance 36130 rs193922245 15:48936884-48936884 15:48644687-48644687
36 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)SNV Uncertain significance 42434 rs141133182 15:48707932-48707932 15:48415735-48415735
37 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)SNV Uncertain significance 418202 rs146469379 15:48707757-48707757 15:48415560-48415560
38 FBN1 NM_000138.5(FBN1):c.164+5A>GSNV Uncertain significance 42289 rs397515760 15:48936798-48936798 15:48644601-48644601
39 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)SNV Uncertain significance 828000 15:48730034-48730034 15:48437837-48437837
40 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)SNV Uncertain significance 626103 rs1566904712 15:48760729-48760729 15:48468532-48468532
41 FBN1 NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)SNV Uncertain significance 549070 rs1555399361 15:48789469-48789469 15:48497272-48497272
42 FBN1 NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)SNV Uncertain significance 626101 rs1290478839 15:48720583-48720583 15:48428386-48428386
43 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)SNV Uncertain significance 501654 rs368650399 15:48762932-48762932 15:48470735-48470735
44 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)SNV Uncertain significance 519804 rs145464311 15:48787397-48787397 15:48495200-48495200
45 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)SNV Uncertain significance 527175 rs982468949 15:48826346-48826346 15:48534149-48534149
46 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=)SNV Uncertain significance 495593 rs144339604 15:48779510-48779510 15:48487313-48487313
47 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)SNV Uncertain significance 457269 rs376119827 15:48703571-48703571 15:48411374-48411374

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

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