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 57 72 29 13 6 70
Weill-Marchesani Syndrome 3, Recessive 57 29
Wms3 57 72
Weill-Marchesani Syndrome, Type 3 39

Characteristics:

OMIM®:

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

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


HPO:

31
weill-marchesani syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614819
OMIM Phenotypic Series 57 PS277600
MeSH 44 D056846
UMLS 70 C3553785

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) (Updated 20-May-2021)

MalaCards based summary : Weill-Marchesani Syndrome 3, is also known as weill-marchesani syndrome 3, recessive, 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). Affiliated tissues include eye, and related phenotypes are joint stiffness and short stature

UniProtKB/Swiss-Prot : 72 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

Symptoms & Phenotypes for Weill-Marchesani Syndrome 3

Human phenotypes related to Weill-Marchesani Syndrome 3:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 HP:0001387
2 short stature 31 HP:0004322
3 myopia 31 HP:0000545
4 ectopia lentis 31 HP:0001083
5 brachydactyly 31 HP:0001156
6 pulmonic stenosis 31 HP:0001642
7 aortic valve stenosis 31 HP:0001650
8 ocular hypertension 31 HP:0007906
9 shallow anterior chamber 31 HP:0000594
10 microspherophakia 31 HP:0030961

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
joint stiffness

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

Cardiovascular Heart:
aortic valve stenosis
pulmonary valve stenosis

Growth Height:
short stature

Skeletal Hands:
brachydactyly

Clinical features from OMIM®:

614819 (Updated 20-May-2021)

UMLS symptoms related to Weill-Marchesani Syndrome 3:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 3

Search Clinical Trials , 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
2 Weill-Marchesani Syndrome 3, Recessive 29

Anatomical Context for Weill-Marchesani Syndrome 3

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

40
Eye

Publications for Weill-Marchesani Syndrome 3

Articles related to Weill-Marchesani Syndrome 3:

# Title Authors PMID Year
1
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 57 6
22539340 2012
2
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. 57
11941487 2002
3
Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma. 61
26005556 2015
4
Angle closure in younger patients. 61
14522758 2003
5
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 61
12951794 2003
6
Angle closure in younger patients. 61
12545694 2002

Variations for Weill-Marchesani Syndrome 3

ClinVar genetic disease variations for Weill-Marchesani Syndrome 3:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP2 NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) SNV Pathogenic 37093 rs137854856 GRCh37: 14:74975430-74975430
GRCh38: 14:74508727-74508727
2 LTBP2 NM_000428.3(LTBP2):c.2931del (p.Gly978fs) Deletion Pathogenic 1032352 GRCh37: 14:74978045-74978045
GRCh38: 14:74511342-74511342
3 LTBP2 NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) SNV Uncertain significance 487467 rs79886273 GRCh37: 14:75078428-75078428
GRCh38: 14:74611725-74611725
4 LTBP2 NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) SNV Uncertain significance 487459 rs1555349144 GRCh37: 14:74991916-74991916
GRCh38: 14:74525213-74525213
5 LTBP2 NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) SNV Uncertain significance 314315 rs143282840 GRCh37: 14:75052569-75052569
GRCh38: 14:74585866-74585866
6 LTBP2 NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) SNV Uncertain significance 314272 rs117800773 GRCh37: 14:74970695-74970695
GRCh38: 14:74503992-74503992
7 LTBP2 NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) Duplication Uncertain significance 487460 rs554570575 GRCh37: 14:75052565-75052566
GRCh38: 14:74585862-74585863
8 LTBP2 NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) Duplication Uncertain significance 487460 rs554570575 GRCh37: 14:75052565-75052566
GRCh38: 14:74585862-74585863
9 LTBP2 NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) SNV Uncertain significance 126949 rs137854861 GRCh37: 14:75018994-75018994
GRCh38: 14:74552291-74552291
10 LTBP2 NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) SNV Uncertain significance 785818 rs45468895 GRCh37: 14:74975348-74975348
GRCh38: 14:74508645-74508645
11 LTBP2 NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) SNV Uncertain significance 973342 GRCh37: 14:74975636-74975636
GRCh38: 14:74508933-74508933
12 LTBP2 NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) SNV Uncertain significance 828006 rs199581688 GRCh37: 14:74999138-74999138
GRCh38: 14:74532435-74532435
13 LTBP2 NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) SNV Uncertain significance 487461 rs770862437 GRCh37: 14:75017844-75017844
GRCh38: 14:74551141-74551141

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

72
# Symbol AA change Variation ID SNP ID
1 LTBP2 p.Val1177Met VAR_068647 rs137854856

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
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
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