WMS3
MCID: WLL038
MIFTS: 24

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 58 76 30 13 6 74
Wms3 58 76
Weill-Marchesani Syndrome 3, Recessive 58
Weill-Marchesani Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
weill-marchesani syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 3

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. (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, and related phenotypes are joint stiffness and short stature

UniProtKB/Swiss-Prot : 76 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 9.5 LOC101928352 LTBP2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 3

Human phenotypes related to Weill-Marchesani Syndrome 3:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 33 HP:0001387
2 short stature 33 HP:0004322
3 myopia 33 HP:0000545
4 ectopia lentis 33 HP:0001083
5 brachydactyly 33 HP:0001156
6 pulmonic stenosis 33 HP:0001642
7 aortic valve stenosis 33 HP:0001650
8 microspherophakia 33 HP:0030961
9 shallow anterior chamber 33 HP:0000594
10 ocular hypertension 33 HP:0007906

Symptoms via clinical synopsis from OMIM:

58
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

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 1401-55-4

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 30 LTBP2

Anatomical Context for Weill-Marchesani Syndrome 3

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

42
Eye

Publications for Weill-Marchesani Syndrome 3

Variations for Weill-Marchesani Syndrome 3

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

76
# 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 rs1555349144 GRCh37 Chromosome 14, 74991916: 74991916
8 LTBP2 NM_000428.2(LTBP2): c.2441C> G (p.Thr814Ser) single nucleotide variant Uncertain significance rs1555349144 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 rs554570575 GRCh37 Chromosome 14, 75052566: 75052583
12 LTBP2 NM_000428.2(LTBP2): c.804_821dup (p.Ala276_Gly277insProGlnSerProProAla) duplication Uncertain significance rs554570575 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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