Aliases & Classifications for Winchester Syndrome

MalaCards integrated aliases for Winchester Syndrome:

Name: Winchester Syndrome 54 24 25 71 29
Wnchrs 25 71
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, and has symptoms including coarse facial features, arthropathy and generalized osteoporosis. 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 Ticagrelor and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes.

OMIM : 54
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:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 coarse facial features 32 HP:0000280
2 arthropathy 32 HP:0003040
3 generalized osteoporosis 32 HP:0040160
4 corneal opacity 32 HP:0007957
5 gingival overgrowth 32 HP:0000212
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 74)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
2
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
3
Ticlopidine Approved Phase 3 55142-85-3 5472
4
Eptifibatide Approved, Investigational Phase 3 188627-80-7 123610
5
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
6
Ethanol Approved Phase 3 64-17-5 702
7
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
8
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
9 Nutmeg Approved, Nutraceutical Phase 3
10 Strawberry Approved, Nutraceutical Phase 3
11
Dalcetrapib Investigational Phase 3 211513-37-0 6918540
12 Cytochrome P-450 Enzyme Inhibitors Phase 3
13 Fibrinolytic Agents Phase 3
14 Neurotransmitter Agents Phase 3,Phase 2
15 Platelet Aggregation Inhibitors Phase 3
16 Purinergic P2 Receptor Antagonists Phase 3
17 Purinergic P2Y Receptor Antagonists Phase 3
18 Anticholesteremic Agents Phase 3
19 Antimetabolites Phase 3
20 Hypolipidemic Agents Phase 3
21 Lipid Regulating Agents Phase 3
22
Darapladib Phase 3 356057-34-6 9939609
23 Anticoagulants Phase 3
24 Antithrombin III Phase 3
25 Antithrombins Phase 3
26 calcium heparin Phase 3
27 Calcium, Dietary Phase 3
28 Factor Xa Inhibitors Phase 3
29 HIV Protease Inhibitors Phase 3
30
Otamixaban Phase 3 193153-04-7
31 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
32
protease inhibitors Phase 3
33 Serine Proteinase Inhibitors Phase 3
34 Analgesics Phase 3,Phase 2
35 Analgesics, Non-Narcotic Phase 3,Phase 2
36 Peripheral Nervous System Agents Phase 3,Phase 2
37 Antibodies Phase 3
38 Antibodies, Monoclonal Phase 3
39 Immunoglobulins Phase 3
40 Angiogenesis Inhibitors Phase 3
41 Angiogenesis Modulating Agents Phase 3
42 Anti-Bacterial Agents Phase 3
43 Anti-Infective Agents Phase 3
44 Immunosuppressive Agents Phase 3
45 Antacids Phase 3
46 Anti-Inflammatory Agents Phase 3
47 Anti-Inflammatory Agents, Non-Steroidal Phase 3
48 Antipyretics Phase 3
49 Antirheumatic Agents Phase 3
50 Anti-Ulcer Agents Phase 3

Interventional clinical trials:

(show all 19)

id Name Status NCT ID Phase Drugs
1 Affordability and Real-world Antiplatelet Treatment Effectiveness After Myocardial Infarction Study Active, not recruiting NCT02406677 Phase 4
2 Evaluation of Screening Methods for Treatment of Meibomian Gland Dysfunction Completed NCT01202747 Phase 2, Phase 3
3 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3 Ticagrelor;Clopidogrel
4 A Study of RO4607381 in Stable Coronary Heart Disease Patients With Recent Acute Coronary Syndrome Completed NCT00658515 Phase 3 Dalcetrapib (RO4607381);Evidence-based medical care for Acute Coronary Syndrome;Placebo
5 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3 Darapladib 160 mg;Placebo
6 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 Otamixaban;Placebo (for Otamixaban);UFH;Placebo (for UFH);Eptifibatide;Placebo (for Eptifibatide)
7 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 GWP42003-P;Placebo Control
8 Effect of Dalcetrapib vs Placebo on CV Risk in a Genetically Defined Population With a Recent ACS Recruiting NCT02525939 Phase 3 dalcetrapib;Placebo
9 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3 alirocumab;Placebo
10 The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3 Thalidomide
11 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3 CGT-2168 (clopidogrel 75 mg/omeprazole 20 mg) and aspirin;Plavix (clopidogrel 75 mg) and aspirin
12 Efficacy and Safety of Dexmedetomidine During Non-Invasive Positive Pressure Ventilation Completed NCT00871624 Phase 2 Dexmedetomidine;Placebo
13 Lacripep™ in Subjects With Dry Eye Associated With Primary Sjögren's Syndrome Recruiting NCT03226444 Phase 1, Phase 2 0.005% Lacripep;0.01% Lacripep;Placebo
14 A Dose-Ranging Study of ATI 7505 in Patients With Postprandial Distress Syndrome Terminated NCT00630370 Phase 2 Placebo;20 mg ATI 7505;40 mg ATI 7505;80 mg ATI 7505
15 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925 Pamidronate or Zoledronate
16 Treatment With Adenosine Diphosphate (ADP) Receptor Inhibitors: Longitudinal Assessment of Treatment Patterns and Events After Acute Coronary Syndrome Completed NCT01088503 ADP receptor inhibitors
17 Pilot Study of High-flow Humidified Nasal Oxygen During Breaks From Noninvasive Ventilation Completed NCT01925534
18 Treatment of Meibomian Gland Dysfunction and Evaporative Dry Eye Completed NCT00832130
19 Treatment of Meibomian Gland Dysfunction Prior to Cataract Surgery Completed NCT01808560

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, Eye, Heart

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-Winchester syndrome: lack of efficacy of pamidronate therapy. ( 17351352 )
2007
6
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. ( 17059372 )
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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....