Aliases & Classifications for Winchester Syndrome

MalaCards integrated aliases for Winchester Syndrome:

Name: Winchester Syndrome 53 72 24 71 28
Wnchrs 53 24 71
Winchester Disease 24

Classifications:



Summaries for Winchester Syndrome

Genetics Home Reference : 24 Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders.

MalaCards based summary : Winchester Syndrome, also known as wnchrs, is related to multicentric osteolysis, nodulosis, and arthropathy and multicentric carpotarsal osteolysis syndrome, and has symptoms including gingival overgrowth, coarse facial features and arthropathy. An important gene associated with Winchester Syndrome is MMP14 (Matrix Metallopeptidase 14), and among its related pathways/superpathways are Degradation of the extracellular matrix and Development Endothelin-1/EDNRA signaling. The drugs Pamidronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes.

OMIM : 53 Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). (277950)

UniProtKB/Swiss-Prot : 71 Winchester syndrome: A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes.

Wikipedia : 72 Winchester syndrome is a rare congenital connective tissue disease described in 1969, of which the main... more...

Related Diseases for Winchester Syndrome

Graphical network of the top 20 diseases related to Winchester Syndrome:



Diseases related to Winchester Syndrome

Symptoms & Phenotypes for Winchester Syndrome

Clinical features from OMIM:

277950

Human phenotypes related to Winchester Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gingival overgrowth 31 HP:0000212
2 coarse facial features 31 HP:0000280
3 arthropathy 31 HP:0003040
4 corneal opacity 31 HP:0007957
5 osteolysis involving bones of the feet 31 HP:0009134
6 generalized osteoporosis 31 HP:0040160
7 osteolysis involving bones of the upper limbs 31 HP:0045039

Drugs & Therapeutics for Winchester Syndrome

Drugs for Winchester Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved 40391-99-9 4674
2
Zoledronic acid Approved 118072-93-8 68740
3 Bone Density Conservation Agents
4 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925 Pamidronate or Zoledronate

Search NIH Clinical Center for Winchester Syndrome

Genetic Tests for Winchester Syndrome

Genetic tests related to Winchester Syndrome:

# Genetic test Affiliating Genes
1 Winchester Syndrome 28 MMP14

Anatomical Context for Winchester Syndrome

MalaCards organs/tissues related to Winchester Syndrome:

38
Bone, Skin, Testes

Publications for Winchester Syndrome

Articles related to Winchester Syndrome:

(show all 18)
# Title Authors Year
1
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. ( 22922033 )
2012
2
Winchester syndrome: the progression of radiological findings over a 23-year period. ( 20865259 )
2011
3
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. ( 20720557 )
2010
4
Winchester syndrome: a case report. ( 19200197 )
2009
5
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. ( 17059372 )
2007
6
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. ( 17351352 )
2007
7
A novel homozygous MMP2 mutation in a family with Winchester syndrome. ( 16542393 )
2006
8
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. ( 15691365 )
2005
9
Progressive multilayered banded skin in Winchester syndrome. ( 14726867 )
2004
10
Winchester syndrome. ( 11794271 )
2001
11
Winchester syndrome. A case report and literature review. ( 1437071 )
1992
12
Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. ( 3428299 )
1987
13
The Winchester syndrome: (a case report). ( 730313 )
1978
14
Winchester syndrome: report of a case from Iran. ( 604368 )
1977
15
The skin in the Winchester syndrome. ( 1115514 )
1975
16
Letter: The Winchester syndrome and mucopolysaccharide metabolism. ( 123957 )
1975
17
The Winchester syndrome: a nonlysosomal connective tissue disease. ( 4206841 )
1974
18
The Winchester syndrome: clinical, radiographic and pathologic studies. ( 4462644 )
1974

Variations for Winchester Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Winchester Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 MMP14 p.Thr17Arg VAR_070567 rs587777039

ClinVar genetic disease variations for Winchester Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP14 NM_004995.3(MMP14): c.50C> G (p.Thr17Arg) single nucleotide variant Pathogenic rs587777039 GRCh37 Chromosome 14, 23306076: 23306076

Expression for Winchester Syndrome

Search GEO for disease gene expression data for Winchester Syndrome.

Pathways for Winchester Syndrome

GO Terms for Winchester Syndrome

Cellular components related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MMP14 MMP2

Biological processes related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.32 MMP14 MMP2
2 response to hypoxia GO:0001666 9.26 MMP14 MMP2
3 extracellular matrix disassembly GO:0022617 9.16 MMP14 MMP2
4 collagen catabolic process GO:0030574 8.96 MMP14 MMP2
5 endodermal cell differentiation GO:0035987 8.62 MMP14 MMP2

Molecular functions related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.26 MMP14 MMP2
2 serine-type endopeptidase activity GO:0004252 9.16 MMP14 MMP2
3 metallopeptidase activity GO:0008237 8.96 MMP14 MMP2
4 metalloendopeptidase activity GO:0004222 8.62 MMP14 MMP2

Sources for Winchester Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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