WMS2
MCID: WLL037
MIFTS: 30

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 58 76 30 6
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 58 76
Weill-Marchesani Syndrome, Autosomal Dominant 58 74
Weill-Marchesani Syndrome 2, Dominant 58 13
Spherophakia-Brachymorphia Syndrome 58 76
Gemss Syndrome 60 74
Gemss 58 76
Wms2 58 76
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome 60
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Gemss 58
Weill-Marchesani Syndrome, Autosomal Recessive 74
Autosomal Dominant Weill-Marchesani Syndrome 76
Mesodermal Dysmorphodystrophy, Congenital 58
Congenital Mesodermal Dysmorphodystrophy 76
Weill-Marchesani Syndrome, Type 2 41
Weill-Marchesani Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
see for a phenotypically similar autosomal recessive form


HPO:

33
weill-marchesani syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 2

OMIM : 58 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 glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, 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 glaucoma

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 12.1
2 weill-marchesani syndrome 1 12.0
3 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.5

Symptoms & Phenotypes for Weill-Marchesani Syndrome 2

Human phenotypes related to Weill-Marchesani Syndrome 2:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
3 ectopia lentis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001083
4 scoliosis 33 HP:0002650
5 narrow palate 33 HP:0000189
6 cataract 33 HP:0000518
7 depressed nasal bridge 33 HP:0005280
8 joint stiffness 33 HP:0001387
9 blindness 33 HP:0000618
10 intellectual disability, mild 33 HP:0001256
11 brachycephaly 33 HP:0000248
12 broad ribs 33 HP:0000885
13 patent ductus arteriosus 33 HP:0001643
14 mitral regurgitation 33 HP:0001653
15 hypoplasia of the maxilla 33 HP:0000327
16 brachydactyly 33 HP:0001156
17 ventricular septal defect 33 HP:0001629
18 spinal canal stenosis 33 HP:0003416
19 pulmonic stenosis 33 HP:0001642
20 abnormality of dental morphology 33 HP:0006482
21 aortic valve stenosis 33 HP:0001650
22 misalignment of teeth 33 HP:0000692
23 broad palm 33 HP:0001169
24 lumbar hyperlordosis 33 HP:0002938
25 broad metatarsal 33 HP:0001783
26 proportionate short stature 33 HP:0003508
27 thin bony cortex 33 HP:0002753
28 shallow orbits 33 HP:0000586
29 broad metacarpals 33 HP:0001230
30 broad skull 33 HP:0002682
31 microspherophakia 33 HP:0030961
32 high myopia 33 HP:0011003
33 shallow anterior chamber 33 HP:0000594
34 broad phalanges of the hand 33 HP:0009768

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
brachycephaly

Cardiovascular Heart:
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
mitral valve insufficiency
ductus arteriosus
more
Skeletal Skull:
broad skull
small shallow orbits

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

Head And Neck Face:
maxillary hypoplasia

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

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 30 FBN1

Anatomical Context for Weill-Marchesani Syndrome 2

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

42
Eye, Skin, Cortex

Publications for Weill-Marchesani Syndrome 2

Articles related to Weill-Marchesani Syndrome 2:

# Title Authors Year
1
THE SPHEROPHAKIA-BRACHYMORPHIA SYNDROME: TWO CASES AMONG FIVE BROTHERS. ( 14265222 )
1965
2
The spherophakia-brachymorphia syndrome. ( 13275173 )
1956
3
Possible genetic carriers in the spherophakia-brachymorphia syndrome. ( 13275462 )
1955

Variations for Weill-Marchesani Syndrome 2

ClinVar genetic disease variations for Weill-Marchesani Syndrome 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
2 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
3 FBN1 NM_000138.4(FBN1): c.5074_5097del (p.Arg1692_Tyr1699del) deletion Pathogenic rs1555396783 GRCh37 Chromosome 15, 48755406: 48755429
4 FBN1 NM_000138.4(FBN1): c.5074_5097del (p.Arg1692_Tyr1699del) deletion Pathogenic rs1555396783 GRCh38 Chromosome 15, 48463209: 48463232
5 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
6 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
7 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
8 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
9 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
10 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
11 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
12 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
13 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
14 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
15 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
16 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
17 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh37 Chromosome 15, 48764778: 48764778
18 FBN1 NM_000138.4(FBN1): c.4306G> A (p.Val1436Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377338217 GRCh38 Chromosome 15, 48472581: 48472581
19 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh37 Chromosome 15, 48758053: 48758053
20 FBN1 NM_000138.4(FBN1): c.4750G> A (p.Glu1584Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs148888513 GRCh38 Chromosome 15, 48465856: 48465856

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
20 FMA
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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