MCID: PGM001
MIFTS: 57

Pigmented Villonodular Synovitis malady

Bone diseases, Muscle diseases, Cancer diseases categories

Summaries for Pigmented Villonodular Synovitis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Pigmented villonodular synovitis is a disease in which the tissue lining a joint in the body begins to grow abnormally.  there are two types of pigmented villonodular synovitis: the nodular form (where the abnormal tissue growth forms a single bump) and the diffuse form (where the entire lining of the joint grows unusually).  the additional tissue in the joint can cause pain, limit movements or cause the joint to lock, and in some cases, can destroy the normal joint structure.  the knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, or wrist.  the average age of diagnosis for this condition is 35 years. last updated: 11/28/2011

MalaCards: Pigmented Villonodular Synovitis, also known as localized pigmented villonodular synovitis, is related to synovitis and giant cell tumor. An important gene associated with Pigmented Villonodular Synovitis is ACP5 (acid phosphatase 5, tartrate resistant), and among its related pathways are Osteopontin Signaling and Integrins in angiogenesis. The compounds pge2 and procollagen have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and testes, and related mouse phenotypes are limbs/digits/tail and integument.

Wikipedia:63 Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth... more...

Aliases & Classifications for Pigmented Villonodular Synovitis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Bone diseases, Muscle diseases


Aliases & Descriptions:

pigmented villonodular synovitis 8 42 10 48 60
localized pigmented villonodular synovitis 42
diffuse giant cell tumor of tenosynovium 8
diffuse pigmented villonodular synovitis 42
fibrous histiocytoma of tendon sheath 60
synovitis pigmented villonodular 44
tenosynovial giant cell tumors 42
villous tenosynovitis 8


External Ids:

Disease Ontology8 DOID:2702
MeSH34 D013586
NCIt39 C3401
MESH via Orphanet35 D013586
SNOMED-CT via Orphanet57 95412009
UMLS via Orphanet61 C0039106

Related Diseases for Pigmented Villonodular Synovitis

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17GeneCards, 18GeneDecks
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Diseases related to Pigmented Villonodular Synovitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1synovitis32.4MMP1, CD68, TNFRSF11B, TNFSF11
2giant cell tumor31.3BGLAP, CSF1, TNFSF11, TNFRSF11B, MMP9
3arthritis30.9TNFRSF11B, TNFSF11, CSF1, CSF1R, BGLAP, MMP1
4rheumatoid arthritis30.9BGLAP, IBSP, CSF1, TNFSF11, TNFRSF11B, CD68
5osteonecrosis30.6BGLAP
6sarcoma30.4PDGFRB, CSF1R, CSF1
7squamous cell carcinoma30.4IBSP, CSF1R, MMP1, MMP9, PTHLH, SPP1
8melanoma30.3IBSP, PDGFRB, CSF1R, CSF1, TNFSF11, TNFRSF11B
9osteoarthritis30.3TNFSF11, CSF1, CSF1R, IBSP, BGLAP, TNFRSF11B
10villonodular synovitis11.6
11tenosynovial giant cell tumor10.7
12pigmentation disease10.6
13malignant giant cell tumor10.6
14neuropathy10.5
15noonan syndrome10.4
16carpal tunnel syndrome10.4
17hemarthrosis10.4
18tuberculosis10.4
19neurofibromatosis10.3
20chondroblastoma10.3
21nodular tenosynovitis10.3
22malignant giant cell tumor of the tendon sheath10.3
23ulnar neuropathy10.3
24systemic lupus erythematosus10.3
25paget's disease of bone10.3
26reactive arthritis10.3
27peroneal neuropathy10.3
28bone giant cell tumor10.3
29cervicitis10.3
30conjunctivitis10.3
31hemangioma10.3
32lipoma10.3
33lupus erythematosus10.3
34paraplegia10.3
35radial neuropathy10.3
36multicentric reticulohistiocytosis10.0CD68
37histiocytosis10.0CD68
38adenoma10.0PVR
39adult t-cell leukemia10.0PTHLH
40root resorption10.0TNFRSF11B
41endometriosis10.0MMP1
42glomerulonephritis10.0SPP1
43cystic fibrosis10.0TNFRSF11B
44arteriosclerosis10.0SPP1
45myelofibrosis10.0PDGFRB
46leiomyosarcoma10.0PDGFRB
47hypertension10.0MMP9
48gastrointestinal stromal tumor10.0PDGFRB
49multiple myeloma10.0TNFRSF11B, TNFSF11
50uterine sarcoma10.0PDGFRB

Graphical network of the top 20 diseases related to Pigmented Villonodular Synovitis:



Diseases related to pigmented villonodular synovitis

Clinical Features for Pigmented Villonodular Synovitis

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Drugs & Therapeutics for Pigmented Villonodular Synovitis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pigmented Villonodular Synovitis

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Anatomical Context for Pigmented Villonodular Synovitis

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32MalaCards
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MalaCards organs/tissues related to Pigmented Villonodular Synovitis:

32
Bone, Lung, Testes

Animal Models for Pigmented Villonodular Synovitis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pigmented Villonodular Synovitis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.8CSF1R, CSF1, ACP5
2MP:00107719.2CSF1R, TNFSF11, MMP9, SPP1
3MP:00053829.0PTHLH, TNFRSF11B, TNFSF11, CSF1, CSF1R, PDGFRB
4MP:00053908.2SPP1, IBSP, CALCR, CSF1R, CSF1, TNFSF11
5MP:00053767.7CSF1R, PDGFRB, CALCR, PVR, CSF1, TNFSF11
6MP:00053977.4CALCR, PDGFRB, CSF1R, CSF1, TNFSF11, TNFRSF11B
7MP:00053877.1PVR, CALCR, PDGFRB, CSF1R, CSF1, TNFSF11

Publications for Pigmented Villonodular Synovitis

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50PubMed
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Articles related to Pigmented Villonodular Synovitis:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Response to imatinib in villonodular pigmented synovitis (PVNS) resistant to nilotinib. (23668619)
2013
2
MRI diagnosis of recurrent pigmented villonodular synovitis following total joint arthroplasty. (24426852)
2013
3
Pigmented villonodular synovitis of the ankle. (23676610)
2013
4
Multifocal localized pigmented villonodular synovitis arising separately from intra- and extra-articular knee joint: case report and literature review. (23412250)
2013
5
Long-term outcome of the treatment of high-risk tenosynovial giant cell tumor/pigmented villonodular synovitis with radiotherapy and surgery. (22281719)
2012
6
Tuberculous arthritis of the knee joint mimicking pigmented villonodular synovitis. (21912886)
2012
7
Efficacy of imatinib mesylate for the treatment of locally advanced and/or metastatic tenosynovial giant cell tumor/pigmented villonodular synovitis. (21823110)
2012
8
Milwaukee shoulder syndrome associated with pigmented villonodular synovitis. Case report. (22396943)
2012
9
Pigmented villonodular synovitis therapy with MSCF-1 inhibitors. (22572726)
2012
10
One step open synovectomy without adjuvant therapy for diffuse pigmented villonodular synovitis of the knee in a soccer player. (23738243)
2011
11
Pigmented villonodular synovitis: an overdiagnosed entity. (19817903)
2009
12
Pigmented villonodular synovitis of a lumbar intervertebral facet joint. (19303820)
2009
13
Pigmented villonodular synovitis of the knee in a patient on oral anticoagulation therapy: a case report. (20062764)
2009
14
Pigmented villonodular synovitis in a military trainee with ankle pain. (19346629)
2009
15
Pigmented villonodular synovitis of thoracic facet joint presenting as rapidly progressive paraplegia. (19955996)
2009
16
Localized pigmented villonodular synovitis of the posterior capsule of the knee. (19634733)
2009
17
Pigmented villonodular synovitis of the temporomandibular joint. (18780538)
2008
18
A case of co-existing pigmented villonodular synovitis and tuberculosis infection of the foot and ankle. (18330584)
2008
19
Clinical and radiographic features of pigmented villonodular synovitis of the foot: report of eight cases. (18487602)
2008
20
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. (18925667)
2008
21
Diffuse pigmented villonodular synovitis: preliminary results with intralesional resection and p32 synoviorthesis. (16906091)
2007
22
The case: Localized pigmented villonodular synovitis. (16924854)
2006
23
Increased expression of humanin peptide in diffuse-type pigmented villonodular synovitis: implication of its mitochondrial abnormality. (15567815)
2005
24
Patello-femoral joint pain due to unusual location of localised pigmented villonodular synovitis-a case report. (15261222)
2004
25
Extensive pigmented villonodular synovitis with markedly pigmented lymphadenopathy and its implication for differential diagnosis with malignant melanoma. (12715334)
2003
26
Case report: rheumatoid arthritis occurring during observation after surgery for localized pigmented villonodular synovitis. (24387219)
2003
27
Pigmented villonodular synovitis of the knee: average five-year follow-up of arthroscopic treatment. (12741588)
2002
28
Pigmented villonodular synovitis of lumbar facet joint: a rare cause of nerve root entrapment. (11413441)
2001
29
Combined partial arthroscopic synovectomy and radiation therapy for diffuse pigmented villonodular synovitis of the knee. (11337722)
2001
30
Magnetic resonance imaging evaluation and arthroscopic resection of localized pigmented villonodular synovitis of the knee. (10791586)
2000
31
Localized pigmented villonodular synovitis as a rare cause of chronic anterolateral ankle pain in an equestrienne. (11027773)
2000
32
Extra-articular pigmented villonodular synovitis of the temporomandibular joint: case report and review of the literature. (11202319)
2000
33
Pigmented villonodular synovitis: magnetic resonance features of an unusual case of bilateral hip joint involvement. (11103548)
2000
34
Pigmented Villonodular Synovitis of the Hand in the Asian Population. (11089161)
1999
35
Pigmented villonodular synovitis. (8633118)
1996
36
Outcome following radiation treatment for high-risk pigmented villonodular synovitis. (7790264)
1995
37
Pigmented villonodular synovitis. Monoclonality and metastasis--a case for neoplastic origin? (7863772)
1995
38
Giant cell tumor of tendon sheath and pigmented villonodular synovitis: immunophenotype suggests a synovial cell origin. (7628850)
1995
39
Pigmented villonodular synovitis. Pedal manifestations. (7807386)
1994
40
Pigmented villonodular synovitis and synovial cysts of the spine [ comment]. (1595437)
1992
41
Diffuse and localized tenosynovial giant cell tumor and pigmented villonodular synovitis: a clinicopathologic and flow cytometric DNA analysis. (1319390)
1992
42
Gadolinium-enhanced MRI of pigmented villonodular synovitis of the knee. (1430457)
1992
43
Treatment of pigmented villonodular synovitis with yttrium-90: changes in immunologic features, Tc-99m uptake measurements, and MR imaging of one case. (1319881)
1992
44
Trisomy 5 and trisomy 7 are nonrandom aberrations in pigmented villonodular synovitis: confirmation of trisomy 7 in uncultured cells. (1382569)
1992
45
Case report 578: Pigmented villonodular synovitis of the shoulder. (2321043)
1990
46
The use of magnetic resonance imaging in the diagnosis of pigmented villonodular synovitis. (2308878)
1990
47
Pigmented villonodular synovitis of patellar plica. (2590333)
1989
48
A case of aggressive pigmented villonodular synovitis. (3421087)
1988
49
Pigmented villonodular synovitis of the hip--association with osteochondromatosis. (3440329)
1987
50
Pigmented villonodular synovitis of the hip. Study of 9 cases. (6662710)
1983

Genetic Variations for Pigmented Villonodular Synovitis

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Expression for genes affiliated with Pigmented Villonodular Synovitis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pigmented Villonodular Synovitis

Search GEO for disease gene expression data for Pigmented Villonodular Synovitis.

Pathways for genes affiliated with Pigmented Villonodular Synovitis

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37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Pigmented Villonodular Synovitis

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Pigmented Villonodular Synovitis according to GeneCards/GeneDecks:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1pge24410.6MMP9
2procollagen4410.5TNFSF11, ACP5
3cycloheximide4410.4CSF1R, IBSP
4rantes4410.0CALCR, CSF1, ACP5
5indomethacin44 59 28 1113.0SPP1, CSF1
6estradiol44 11 2412.0IBSP, CALCR, PTHLH, ACP5
7matrigel449.9PTHLH, PDGFRB, MMP1, IBSP
8clodronate44 49 1111.9TNFSF11, MMP1, ACP5, PTHLH, TNFRSF11B
9geranylgeranyl pyrophosphate449.8TNFSF11, TNFRSF11B, MMP9, MMP1
10prostaglandin449.8TNFRSF11B, CSF1, TNFSF11, MMP1
11etanercept44 49 1111.5TNFSF11, MMP1, CSF1, TNFRSF11B
12celecoxib44 59 28 49 11 2414.5MMP1, CSF1, MMP9, TNFRSF11B, TNFSF11
13ibandronate44 1110.4TNFSF11, TNFRSF11B, IBSP, BGLAP
14pyridinoline449.3ACP5, PTHLH, TNFRSF11B, IBSP, BGLAP
15deoxypyridinoline449.2TNFSF11, BGLAP, IBSP, TNFRSF11B, ACP5
16vitamin k2449.2BGLAP, CSF1, TNFRSF11B, TNFSF11
17pamidronate44 49 1111.2MMP1, PTHLH, TNFSF11, TNFRSF11B, BGLAP
18alendronate44 49 1111.2BGLAP, MMP1, TNFRSF11B, TNFSF11, PTHLH
19tgf beta1449.1CSF1, PDGFRB, PTHLH, SPP1, MMP9, MMP1
20infliximab44 49 1111.1SPP1, MMP1, TNFRSF11B, BGLAP, TNFSF11
21titanium449.1IBSP, BGLAP, SPP1, ACP5, TNFRSF11B, TNFSF11
22pd 98,059449.0CSF1R, CSF1, TNFSF11, MMP1, IBSP, SPP1
2325-hydroxyvitamin d449.0BGLAP, TNFSF11, PTHLH, SPP1, TNFRSF11B, ACP5
24phosphorus449.0TNFSF11, PTHLH, BGLAP, SPP1, ACP5, TNFRSF11B
25azathioprine44 49 2 1112.0TNFSF11, TNFRSF11B, ACP5, PTHLH, BGLAP
26genistein44 28 59 2 11 2413.9MMP9, SPP1, TNFRSF11B, TNFSF11, MMP1, PDGFRB
27troglitazone44 28 59 1111.9MMP1, SPP1, PTHLH, MMP9, CSF1
28tartrate448.9TNFSF11, CSF1, CALCR, BGLAP, ACP5, PTHLH
29ns 39844 599.8MMP9, TNFRSF11B, TNFSF11, CSF1, BGLAP, MMP1
30hydroxyapatite448.8PTHLH, SPP1, ACP5, TNFRSF11B, TNFSF11, IBSP
31hydroxyproline44 11 2410.8MMP9, BGLAP, TNFRSF11B, ACP5, PTHLH, MMP1
32zoledronic acid448.8BGLAP, IBSP, TNFRSF11B, MMP1, PTHLH, TNFSF11
33prednisolone44 28 1110.7BGLAP, TNFRSF11B, MMP1, PTHLH, CSF1
34heparin44 28 11 2411.6IBSP, SPP1, BGLAP, ACP5, TNFRSF11B, TNFSF11
35ascorbic acid44 249.6MMP1, TNFRSF11B, SPP1, TNFSF11, CSF1, IBSP
36serine448.4MMP1, TNFRSF11B, TNFSF11, CSF1, BGLAP, CSF1R
37sb 20358044 599.4SPP1, MMP9, MMP1, TNFRSF11B, TNFSF11, BGLAP
38phosphatidylinositol448.4CSF1, SPP1, TNFRSF11B, MMP9, PTHLH, CSF1R
39cyclosporin a44 28 5910.4TNFSF11, CALCR, BGLAP, TNFRSF11B, MMP9, MMP1
40dexamethasone44 49 28 1111.2TNFSF11, MMP9, ACP5, BGLAP, TNFRSF11B, SPP1
41testosterone44 59 11 2411.0MMP9, SPP1, PTHLH, MMP1, PDGFRB, TNFRSF11B
42vitamin d448.0CALCR, SPP1, PTHLH, ACP5, TNFRSF11B, PDGFRB
43tyrosine448.0ACP5, MMP9, TNFRSF11B, TNFSF11, CSF1, SPP1
441,25 dihydroxy vitamin d3448.0TNFRSF11B, PTHLH, ACP5, TNFSF11, CSF1, CSF1R
45calcitriol44 59 11 2410.9BGLAP, CALCR, MMP1, PDGFRB, CSF1, TNFSF11
46retinoic acid44 248.8PDGFRB, SPP1, PTHLH, MMP9, MMP1, BGLAP
47creatinine447.7TNFRSF11B, PTHLH, ACP5, MMP9, MMP1, TNFSF11
48cysteine447.7MMP9, MMP1, IBSP, TNFRSF11B, TNFSF11, BGLAP
49vegf447.6SPP1, MMP9, MMP1, TNFSF11, CSF1, CSF1R
50paraffin447.4PTHLH, CSF1, CSF1R, PDGFRB, IBSP, BGLAP

GO Terms for genes affiliated with Pigmented Villonodular Synovitis

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16Gene Ontology
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Cellular components related to Pigmented Villonodular Synovitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:0319889.4SPP1, BGLAP
2extracellular spaceGO:0056157.9SPP1, PVR, BGLAP, CSF1, TNFSF11, TNFRSF11B
3extracellular regionGO:0055767.8BGLAP, IBSP, TNFSF11, TNFRSF11B, MMP1, MMP9

Biological processes related to Pigmented Villonodular Synovitis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1osteoclast proliferationGO:00215810.1TNFSF11, CSF1
2positive regulation of bone resorptionGO:04578010.0SPP1, TNFSF11
3osteoclast differentiationGO:0303169.9TNFSF11, CSF1, CSF1R
4macrophage differentiationGO:0302259.9MMP9, CSF1, CSF1R
5phosphatidylinositol metabolic processGO:0464889.8CSF1R, PDGFRB
6ossificationGO:0015039.8IBSP, CSF1, TNFSF11
7extracellular matrix organizationGO:0301989.5IBSP, TNFRSF11B, MMP1, MMP9, SPP1
8regulation of bone resorptionGO:0451249.5CSF1R, BGLAP
9response to vitamin DGO:0332809.1SPP1, BGLAP
10skeletal system developmentGO:0015019.1BGLAP, TNFRSF11B, MMP9, PTHLH

Molecular functions related to Pigmented Villonodular Synovitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.5SPP1, TNFRSF11B, TNFSF11, CSF1

Products for genes affiliated with Pigmented Villonodular Synovitis

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Sources for Pigmented Villonodular Synovitis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet