Aliases & Classifications for Winchester Syndrome

MalaCards integrated aliases for Winchester Syndrome:

Name: Winchester Syndrome 57 76 25 75 29 6
Wnchrs 57 25 75
Syndrome, Winchester 40
Winchester Disease 25

Classifications:



Summaries for Winchester Syndrome

Genetics Home Reference : 25 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. 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, and related phenotypes are gingival overgrowth and coarse facial features

OMIM : 57 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 : 75 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 : 76 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gingival overgrowth 32 HP:0000212
2 coarse facial features 32 HP:0000280
3 arthropathy 32 HP:0003040
4 corneal opacity 32 HP:0007957
5 osteolysis involving bones of the feet 32 HP:0009134
6 generalized osteoporosis 32 HP:0040160
7 osteolysis involving bones of the upper limbs 32 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 29 MMP14

Anatomical Context for Winchester Syndrome

MalaCards organs/tissues related to Winchester Syndrome:

41
Bone, Skin, Testes

Publications for Winchester Syndrome

Articles related to Winchester Syndrome:

(show all 19)
# Title Authors Year
1
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. ( 29741626 )
2018
2
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. ( 22922033 )
2012
3
Winchester syndrome: the progression of radiological findings over a 23-year period. ( 20865259 )
2011
4
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. ( 20720557 )
2010
5
Winchester syndrome: a case report. ( 19200197 )
2009
6
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. ( 17351352 )
2007
7
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. ( 17059372 )
2007
8
A novel homozygous MMP2 mutation in a family with Winchester syndrome. ( 16542393 )
2006
9
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. ( 15691365 )
2005
10
Progressive multilayered banded skin in Winchester syndrome. ( 14726867 )
2004
11
Winchester syndrome. ( 11794271 )
2001
12
Winchester syndrome. A case report and literature review. ( 1437071 )
1992
13
Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. ( 3428299 )
1987
14
The Winchester syndrome: (a case report). ( 730313 )
1978
15
Winchester syndrome: report of a case from Iran. ( 604368 )
1977
16
Letter: The Winchester syndrome and mucopolysaccharide metabolism. ( 123957 )
1975
17
The skin in the Winchester syndrome. ( 1115514 )
1975
18
The Winchester syndrome: clinical, radiographic and pathologic studies. ( 4462644 )
1974
19
The Winchester syndrome: a nonlysosomal connective tissue disease. ( 4206841 )
1974

Variations for Winchester Syndrome

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

75
# 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
2 MMP14 NM_004995.3(MMP14): c.50C> G (p.Thr17Arg) single nucleotide variant Pathogenic rs587777039 GRCh38 Chromosome 14, 22836867: 22836867
3 MMP14 NM_004995.3(MMP14): c.850+2C> T single nucleotide variant Uncertain significance rs757044765 GRCh38 Chromosome 14, 22843420: 22843420
4 MMP14 NM_004995.3(MMP14): c.850+2C> T single nucleotide variant Uncertain significance rs757044765 GRCh37 Chromosome 14, 23312629: 23312629

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
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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