WNCHRS
MCID: WNC001
MIFTS: 39

Winchester Syndrome (WNCHRS) malady

Categories: Genetic diseases

Aliases & Classifications for Winchester Syndrome

Aliases & Descriptions for Winchester Syndrome:

Name: Winchester Syndrome 54 24 25 66
Winchester Disease 25 29
Wnchrs 25 66

Classifications:



External Ids:

OMIM 54 277950
MedGen 40 C0432289

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 winchester disease, is related to multicentric osteolysis, nodulosis, and arthropathy and multicentric carpotarsal osteolysis syndrome, and has symptoms including gingival overgrowth, coarse facial features and corneal opacity. An important gene associated with Winchester Syndrome is MMP14 (Matrix Metallopeptidase 14), and among its related pathways/superpathways are Development Endothelin-1/EDNRA signaling and Degradation of the extracellular matrix. The drugs Aspirin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes.

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone... (277950) more...

Wikipedia : 71 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)
id Description HPO Frequency HPO Source Accession
1 gingival overgrowth 32 HP:0000212
2 coarse facial features 32 HP:0000280
3 corneal opacity 32 HP:0007957
4 arthropathy 32 HP:0003040
5 generalized osteoporosis 32 HP:0040160
6 osteolysis involving bones of the feet 32 HP:0009134
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):

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
2
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
3
Everolimus Approved Phase 4 159351-69-6 6442177
4
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
5
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
6
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
7 Prasugrel hydrochloride Phase 4 389574-19-0
8 Analgesics Phase 4,Phase 3,Phase 2
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
10 Albumin-Bound Paclitaxel Phase 4
11 Cyclooxygenase Inhibitors Phase 4,Phase 3
12 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
13 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
14 Platelet Aggregation Inhibitors Phase 4,Phase 3
15 Fibrinolytic Agents Phase 4,Phase 3
16 Anti-Inflammatory Agents Phase 4,Phase 3
17 Purinergic P2 Receptor Antagonists Phase 4,Phase 3
18 Purinergic P2Y Receptor Antagonists Phase 4,Phase 3
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
20 Antipyretics Phase 4,Phase 3
21 Antirheumatic Agents Phase 4,Phase 3
22
Zoledronic acid Approved Phase 3 118072-93-8 68740
23
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
24
Salicylic acid Approved, Vet_approved Phase 3 69-72-7 338
25
Ticlopidine Approved Phase 3 55142-85-3 5472
26
Eptifibatide Approved, Investigational Phase 3 188627-80-7 123610
27
Ethanol Approved Phase 3 64-17-5 702
28
Loteprednol Approved Phase 3 82034-46-6, 129260-79-3 444025 9865442
29
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
30 Ibandronic acid Phase 3
31 Ophthalmic Solutions Phase 3
32 Diphosphonates Phase 3
33 Pharmaceutical Solutions Phase 3,Phase 2
34 Bone Density Conservation Agents Phase 3
35
Otamixaban Phase 3 193153-04-7
36 calcium heparin Phase 3
37
Darapladib Phase 3 356057-34-6 9939609
38
Dalcetrapib Phase 3 6918540
39
protease inhibitors Phase 3
40 Serine Proteinase Inhibitors Phase 3
41 HIV Protease Inhibitors Phase 3
42 Cytochrome P-450 Enzyme Inhibitors Phase 3
43 Hypolipidemic Agents Phase 3
44 Factor Xa Inhibitors Phase 3
45 Anticholesteremic Agents Phase 3
46 Anticoagulants Phase 3
47 Lipid Regulating Agents Phase 3
48 Antimetabolites Phase 3
49 Lubricant Eye Drops Phase 3
50 Antithrombin III Phase 3

Interventional clinical trials:

(show all 32)
id Name Status NCT ID Phase
1 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
2 Affordability and Real-world Antiplatelet Treatment Effectiveness After Myocardial Infarction Study Active, not recruiting NCT02406677 Phase 4
3 Study of EBI-005 in Dry Eye Disease (DED) Unknown status NCT02405039 Phase 3
4 Ibandronate or Zoledronate in Treating Patients With Newly Diagnosed Bone Metastases From Breast Cancer Unknown status NCT00326820 Phase 3
5 Evaluation of Screening Methods for Treatment of Meibomian Gland Dysfunction Completed NCT01202747 Phase 2, Phase 3
6 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3
7 A Study of RO4607381 in Stable Coronary Heart Disease Patients With Recent Acute Coronary Syndrome Completed NCT00658515 Phase 3
8 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3
9 Effect of Otamixaban Versus Unfractionated Heparin + Eptifibatide in Patients With Unstable Angina/Non ST Elevation Myocardial Infarction Undergoing Early Invasive Strategy Completed NCT01076764 Phase 3
10 Prevention of Cardiovascular Events (eg, Death From Heart or Vascular Disease, Heart Attack, or Stroke) in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin Completed NCT01225562 Phase 3
11 A Study to Evaluate Efficacy and Safety of Lifitegrast in Subjects With Dry Eye Completed NCT02284516 Phase 3
12 Phase 3 Study of EBI-005 in Dry Eye Disease Completed NCT01998802 Phase 3
13 Safety and Efficacy Study of SAR 1118 to Treat Dry Eye Conducted in a Controlled Adverse Environment (CAE) Completed NCT01421498 Phase 3
14 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3
15 Effect of Dalcetrapib vs Placebo on CV Risk in a Genetically Defined Population With a Recent ACS Recruiting NCT02525939 Phase 3
16 Safety and Efficacy of KPI-12 in Subjects With Dry Eye Disease Recruiting NCT02813265 Phase 3
17 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
18 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3
19 Dry Eye Assessment and Management Study Active, not recruiting NCT02128763 Phase 3
20 The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3
21 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3
22 Efficacy and Safety of Dexmedetomidine During Non-Invasive Positive Pressure Ventilation Completed NCT00871624 Phase 2
23 A Dose-Ranging Study of ATI 7505 in Patients With Postprandial Distress Syndrome Terminated NCT00630370 Phase 2
24 Study to Determine and Evaluate a Safe and Tolerated Dose of HDM201 in Patients With Selected Advanced Tumors That Are TP53wt Recruiting NCT02143635 Phase 1
25 Comparison of Two Schedules of Zoledronic Acid in Treating Patients With Breast Cancer That Has Spread to the Bone Unknown status NCT00458796
26 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925
27 Treatment With Adenosine Diphosphate (ADP) Receptor Inhibitors: Longitudinal Assessment of Treatment Patterns and Events After Acute Coronary Syndrome Completed NCT01088503
28 Pilot Study of High-flow Humidified Nasal Oxygen During Breaks From Noninvasive Ventilation Completed NCT01925534
29 Treatment of Meibomian Gland Dysfunction and Evaporative Dry Eye Completed NCT00832130
30 Treatment of Meibomian Gland Dysfunction Prior to Cataract Surgery Completed NCT01808560
31 Randomized Controlled Trial of Long-term Treatment Effectiveness for Meibomian Gland Dysfunction (MGD) and Dry Eye Completed NCT01521507
32 International Study of Comparative Health Effectiveness With Medical and Invasive Approaches (ISCHEMIA) Recruiting NCT01471522

Search NIH Clinical Center for Winchester Syndrome

Genetic Tests for Winchester Syndrome

Genetic tests related to Winchester Syndrome:

id Genetic test Affiliating Genes
1 Winchester Syndrome 29 24 MMP2

Anatomical Context for Winchester Syndrome

MalaCards organs/tissues related to Winchester Syndrome:

39
Bone, Skin, Testes

Publications for Winchester Syndrome

Articles related to Winchester Syndrome:

(show all 18)
id 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
Letter: The Winchester syndrome and mucopolysaccharide metabolism. ( 123957 )
1975
16
The skin in the Winchester syndrome. ( 1115514 )
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:

66
id Symbol AA change Variation ID SNP ID
1 MMP14 p.Thr17Arg VAR_070567 rs587777039

ClinVar genetic disease variations for Winchester Syndrome:

6
id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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