WMS3
MCID: WLL038
MIFTS: 23

Weill-Marchesani Syndrome 3 (WMS3)

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

Aliases & Classifications for Weill-Marchesani Syndrome 3

MalaCards integrated aliases for Weill-Marchesani Syndrome 3:

Name: Weill-Marchesani Syndrome 3 57 75 29 13 6 73
Wms3 57 75
Weill-Marchesani Syndrome 3, Recessive 57
Weill-Marchesani Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 1 family (last curated september 2012)


HPO:

32
weill-marchesani syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 3

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. (614819)

MalaCards based summary : Weill-Marchesani Syndrome 3, also known as wms3, is related to glaucoma 3, primary congenital, d, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 3 is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are joint stiffness and short stature

UniProtKB/Swiss-Prot : 75 Weill-Marchesani syndrome 3: 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 3

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

# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, d 9.7 LOC101928352 LTBP2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint stiffness

Head And Neck Eyes:
myopia
ectopia lentis
increased intraocular pressure
microspherophakia
shallow anterior chamber

Cardiovascular Heart:
aortic valve stenosis
pulmonary valve stenosis

Growth Height:
short stature

Skeletal Hands:
brachydactyly


Clinical features from OMIM:

614819

Human phenotypes related to Weill-Marchesani Syndrome 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 short stature 32 HP:0004322
3 myopia 32 HP:0000545
4 ectopia lentis 32 HP:0001083
5 brachydactyly 32 HP:0001156
6 pulmonic stenosis 32 HP:0001642
7 aortic valve stenosis 32 HP:0001650
8 increased intraocular pressure 32 HP:0007906
9 microspherophakia 32 HP:0030961
10 shallow anterior chamber 32 HP:0000594

UMLS symptoms related to Weill-Marchesani Syndrome 3:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 3

Drugs for Weill-Marchesani Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
2 tannic acid Approved Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intraindividual Variability in Sleep and Cognitive Performance in Older Adults Completed NCT02967185 Phase 2

Search NIH Clinical Center for Weill-Marchesani Syndrome 3

Genetic Tests for Weill-Marchesani Syndrome 3

Genetic tests related to Weill-Marchesani Syndrome 3:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 3 29 LTBP2

Anatomical Context for Weill-Marchesani Syndrome 3

MalaCards organs/tissues related to Weill-Marchesani Syndrome 3:

41
Eye, Skin, Bone

Publications for Weill-Marchesani Syndrome 3

Variations for Weill-Marchesani Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Weill-Marchesani Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 LTBP2 p.Val1177Met VAR_068647 rs137854856

ClinVar genetic disease variations for Weill-Marchesani Syndrome 3:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh37 Chromosome 14, 74975430: 74975430
2 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh38 Chromosome 14, 74508727: 74508727
3 LTBP2 NM_000428.2(LTBP2): c.4516G> A (p.Val1506Met) single nucleotide variant Uncertain significance rs117800773 GRCh38 Chromosome 14, 74503992: 74503992
4 LTBP2 NM_000428.2(LTBP2): c.4516G> A (p.Val1506Met) single nucleotide variant Uncertain significance rs117800773 GRCh37 Chromosome 14, 74970695: 74970695
5 LTBP2 NM_000428.2(LTBP2): c.818C> T (p.Ser273Leu) single nucleotide variant Uncertain significance rs143282840 GRCh38 Chromosome 14, 74585866: 74585866
6 LTBP2 NM_000428.2(LTBP2): c.818C> T (p.Ser273Leu) single nucleotide variant Uncertain significance rs143282840 GRCh37 Chromosome 14, 75052569: 75052569
7 LTBP2 NM_000428.2(LTBP2): c.2441C> G (p.Thr814Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 74991916: 74991916
8 LTBP2 NM_000428.2(LTBP2): c.2441C> G (p.Thr814Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 74525213: 74525213
9 LTBP2 NM_000428.2(LTBP2): c.1609C> A (p.Pro537Thr) single nucleotide variant Uncertain significance rs770862437 GRCh37 Chromosome 14, 75017844: 75017844
10 LTBP2 NM_000428.2(LTBP2): c.1609C> A (p.Pro537Thr) single nucleotide variant Uncertain significance rs770862437 GRCh38 Chromosome 14, 74551141: 74551141
11 LTBP2 NM_000428.2(LTBP2): c.804_821dup (p.Ala276_Gly277insProGlnSerProProAla) duplication Uncertain significance GRCh37 Chromosome 14, 75052566: 75052583
12 LTBP2 NM_000428.2(LTBP2): c.804_821dup (p.Ala276_Gly277insProGlnSerProProAla) duplication Uncertain significance GRCh38 Chromosome 14, 74585863: 74585880
13 LTBP2 NM_000428.2(LTBP2): c.220G> C (p.Glu74Gln) single nucleotide variant Uncertain significance rs79886273 GRCh37 Chromosome 14, 75078428: 75078428
14 LTBP2 NM_000428.2(LTBP2): c.220G> C (p.Glu74Gln) single nucleotide variant Uncertain significance rs79886273 GRCh38 Chromosome 14, 74611725: 74611725

Expression for Weill-Marchesani Syndrome 3

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 3.

Pathways for Weill-Marchesani Syndrome 3

GO Terms for Weill-Marchesani Syndrome 3

Sources for Weill-Marchesani Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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