MCID: PGM001
MIFTS: 54

Pigmented Villonodular Synovitis

Categories: Bone diseases, Muscle diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pigmented Villonodular Synovitis

MalaCards integrated aliases for Pigmented Villonodular Synovitis:

Name: Pigmented Villonodular Synovitis 12 77 54 60 15 17 74
Tenosynovial Giant Cell Tumor 54 60
Diffuse-Type Giant Cell Tumor 54 60
Diffuse-Type Gct 54 60
Tsgct 54 60
Tgct 54 60
Localized Pigmented Villonodular Synovitis 54
Diffuse Giant Cell Tumor of Tenosynovium 12
Diffuse Pigmented Villonodular Synovitis 54
Fibrous Histiocytoma of Tendon Sheath 74
Synovitis, Pigmented Villonodular 45
Synovitis Pigmented Villonodular 56
Tenosynovial Giant Cell Tumors 54
Testicular Germ Cell Tumor 74
Villous Tenosynovitis 12

Characteristics:

Orphanet epidemiological data:

60
pigmented villonodular synovitis
Inheritance: Not applicable;

Classifications:



External Ids:

Disease Ontology 12 DOID:2702
MeSH 45 D013586
NCIt 51 C3401
SNOMED-CT 69 71508003 95412009
ICD10 34 M12.2
MESH via Orphanet 46 D013586
ICD10 via Orphanet 35 M12.2
UMLS via Orphanet 75 C0039106
Orphanet 60 ORPHA66627

Summaries for Pigmented Villonodular Synovitis

NIH Rare Diseases : 54 Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.

MalaCards based summary : Pigmented Villonodular Synovitis, also known as tenosynovial giant cell tumor, is related to villonodular synovitis and tenosynovial giant cell tumor, and has symptoms including pain An important gene associated with Pigmented Villonodular Synovitis is CSF1 (Colony Stimulating Factor 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Endometrial cancer. The drugs Sargramostim and Grapefruit Seed Extract have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and thyroid, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 77 Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth... more...

Related Diseases for Pigmented Villonodular Synovitis

Diseases related to Pigmented Villonodular Synovitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 villonodular synovitis 33.0 ACP5 MMP9 PTPN11 TNFSF11
2 tenosynovial giant cell tumor 32.8 CSF1 CSF1R
3 giant cell tumor 31.2 CSF1 MMP9 TNFSF11
4 malignant giant cell tumor 30.9 ACP5 TP53
5 osteonecrosis 30.9 ACP5 TNFSF11
6 arthritis 30.8 CSF1 MMP9 TNFSF11
7 paget's disease of bone 30.4 CSF1 TNFSF11
8 bone giant cell tumor 30.0 ACP5 CALCR TNFSF11
9 rheumatoid arthritis 29.9 ACP5 CSF1 CSF1R MMP9 TNFSF11
10 testicular germ cell tumor 12.3
11 noonan syndrome 1 12.3
12 synovitis 11.6
13 popliteal cyst 10.6
14 synovial chondromatosis 10.5
15 sarcoma 10.4
16 hemarthrosis 10.4
17 neuropathy 10.4
18 tenosynovitis 10.4
19 carpal tunnel syndrome 10.3
20 mononeuropathy of the median nerve, mild 10.3
21 osteoarthritis 10.3
22 melanoma 10.3
23 synovium neoplasm 10.3
24 mammary paget's disease 10.3
25 pseudo-turner syndrome 10.3
26 testicular germ cell tumor 1 10.3
27 testicular germ cell cancer 10.3
28 germ cells tumors 10.3
29 patulous eustachian tube 10.3
30 enchondromatosis, multiple, ollier type 10.3 ACP5 PTPN11
31 testicular cancer 10.2
32 periapical periodontitis 10.2 ACP5 TNFSF11
33 tooth resorption 10.2 ACP5 TNFSF11
34 glucocorticoid-induced osteoporosis 10.2 ACP5 TNFSF11
35 ischemic bone disease 10.2 ACP5 TNFSF11
36 teeth hard tissue disease 10.2 ACP5 TNFSF11
37 osteopetrosis, autosomal dominant 2 10.2 ACP5 TNFSF11
38 periodontosis 10.2 MMP9 TNFSF11
39 bone resorption disease 10.2 ACP5 TNFSF11
40 spondyloarthropathy 1 10.2
41 lipomatosis, multiple 10.2
42 systemic lupus erythematosus 10.2
43 chediak-higashi syndrome 10.2
44 sarcoma, synovial 10.2
45 xanthomatosis 10.2
46 noonan syndrome 4 10.2
47 hemangioma 10.2
48 lymphoma 10.2
49 pleomorphic lipoma 10.2
50 frozen shoulder 10.2

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



Diseases related to Pigmented Villonodular Synovitis

Symptoms & Phenotypes for Pigmented Villonodular Synovitis

UMLS symptoms related to Pigmented Villonodular Synovitis:


pain

MGI Mouse Phenotypes related to Pigmented Villonodular Synovitis:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.08 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
2 homeostasis/metabolism MP:0005376 10.07 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
3 immune system MP:0005387 10.05 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
4 behavior/neurological MP:0005386 10.04 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
5 limbs/digits/tail MP:0005371 10.02 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
6 mortality/aging MP:0010768 10 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
7 integument MP:0010771 9.97 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
8 craniofacial MP:0005382 9.96 CSF1 CSF1R PTPN11 TNFSF11 TP53
9 hearing/vestibular/ear MP:0005377 9.85 CSF1 CSF1R PTPN11 TP53
10 muscle MP:0005369 9.83 CSF1 MMP9 PTPN11 TNFSF11 TP53
11 no phenotypic analysis MP:0003012 9.77 CSF1 CSF1R PTPN11 TNFSF11 TP53
12 reproductive system MP:0005389 9.73 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
13 normal MP:0002873 9.72 CALCR CSF1R PTPN11 TNFSF11 TP53
14 neoplasm MP:0002006 9.71 MMP9 PTPN11 TNFSF11 TP53
15 respiratory system MP:0005388 9.55 CSF1 MMP9 PTPN11 TNFSF11 TP53
16 skeleton MP:0005390 9.5 CALCR CSF1 CSF1R MMP9 PTPN11 TNFSF11
17 vision/eye MP:0005391 9.02 CSF1 MMP9 PTPN11 TNFSF11 TP53

Drugs & Therapeutics for Pigmented Villonodular Synovitis

Drugs for Pigmented Villonodular Synovitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2 Grapefruit Seed Extract Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Antibodies Phase 1, Phase 2
5
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
6
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
7
Tolbutamide Approved, Investigational Phase 1 64-77-7 5505
8 Antimitotic Agents Phase 1
9 Albumin-Bound Paclitaxel Phase 1
10 Antineoplastic Agents, Phytogenic Phase 1
11 Anesthetics, Intravenous Phase 1
12 Hypoglycemic Agents Phase 1
13 Neurotransmitter Agents Phase 1
14 Psychotropic Drugs Phase 1
15 Anesthetics, General Phase 1
16 Anti-Anxiety Agents Phase 1
17 Adjuvants, Anesthesia Phase 1
18 GABA Modulators Phase 1
19 Hypnotics and Sedatives Phase 1
20 Central Nervous System Depressants Phase 1
21 Tranquilizing Agents Phase 1
22 Anesthetics Phase 1
23 GABA Agents Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Phase 3 Study of Pexidartinib for Pigmented Villonodular Synovitis (PVNS) or Giant Cell Tumor of the Tendon Sheath (GCT-TS) Active, not recruiting NCT02371369 Phase 3 Pexidartinib;Placebo
2 Study of Nilotinib Efficacy in Pigmented Villo-Nodular Synovitis/ Tenosynovial Giant Cell Tumour (PVNS/TGCT) Completed NCT01261429 Phase 2 Tasigna
3 MCS110 in Patients With Pigmented Villonodular Synovitis (PVNS) Completed NCT01643850 Phase 2 MCS110;Placebo;MCS110;Placebo
4 Study of Cabiralizumab in Patients With Pigmented Villonodular Synovitis / Diffuse Type Tenosynovial Giant Cell Tumor Active, not recruiting NCT02471716 Phase 1, Phase 2
5 Nilotinib in Patients With Relapsed or Metastatic Pigmented Villonodular Synovitis/Tenosynovial Giant Cell Tumor/Diffuse-Type Giant Cell Tumor Active, not recruiting NCT01207492 Phase 2 nilotinib
6 A Study of RO5509554 as Monotherapy and in Combination With Paclitaxel in Participants With Advanced Solid Tumors Completed NCT01494688 Phase 1 Paclitaxel;RO5509554
7 Study of DCC-3014 in Patients With Advanced Tumors Recruiting NCT03069469 Phase 1 DCC-3014
8 Effect of Pexidartinib on the Way the Body Processes CYP3A4 and CYP2C9 Substrates (Pharmacokinetics) Active, not recruiting NCT03291288 Phase 1 Tolbutamide;Midazolam;Pexidartinib
9 A Study of PLX73086 in Advanced Solid Tumors and Locally Advanced or Refractory Tenosynovial Giant Cell Tumor Terminated NCT02673736 Phase 1 PLX73086
10 Phase 1 Study of PLX7486 as Single Agent in Patients With Advanced Solid Tumors Terminated NCT01804530 Phase 1 PLX7486 TsOH
11 Evaluation of the Effectiveness of Surgical Treatment of Villo-nodular Synovitis of the Hip in Children Recruiting NCT03507933
12 Tenosynovial Giant Cell Tumors (TGCT) Observational Platform Project Recruiting NCT02948088

Search NIH Clinical Center for Pigmented Villonodular Synovitis

Cochrane evidence based reviews: synovitis, pigmented villonodular

Genetic Tests for Pigmented Villonodular Synovitis

Anatomical Context for Pigmented Villonodular Synovitis

MalaCards organs/tissues related to Pigmented Villonodular Synovitis:

42
Bone, Brain, Thyroid, Myeloid, Testes, Neutrophil, Salivary Gland

Publications for Pigmented Villonodular Synovitis

Articles related to Pigmented Villonodular Synovitis:

(show top 50) (show all 814)
# Title Authors Year
1
Intra-articular fibroma-like perivascular epithelioid tumor (PEComa) mimicking tenosynovial giant cell tumor, diffuse type. ( 30206676 )
2019
2
Diffuse-Type Tenosynovial Giant Cell Tumor of the Thoracic Spine: Appearance on FDG PET/CT. ( 30889006 )
2019
3
Tenosynovial Giant Cell Tumor of Temporomandibular Joint and Skull Base Presenting as Ear Canal Mass. ( 30955370 )
2019
4
Giant Cell Poor Extra-Articular Diffuse-Type Tenosynovial Giant Cell Tumor With Extensive Desmin Expression: A Potential Diagnostic Pitfall With Cytogenetic Confirmation. ( 30019981 )
2019
5
Malignant Tenosynovial Giant Cell Tumor: The True "Synovial Sarcoma?" A Clinicopathologic, Immunohistochemical, and Molecular Cytogenetic Study of 10 Cases, Supporting Origin from Synoviocytes. ( 30206409 )
2019
6
Desmoplastic fibroblastoma mimicking tenosynovial giant cell tumor encasing a tendon of the foot. ( 30229348 )
2019
7
Diffuse-Type Tenosynovial Giant Cell Tumor of the Shoulder Evaluated by FDG PET/CT. ( 30624274 )
2019
8
The measurement of physical functioning among patients with Tenosynovial Giant Cell Tumor (TGCT) using the Patient-Reported Outcomes Measurement Information System (PROMIS). ( 30714073 )
2019
9
Diffuse Tenosynovial Giant Cell Tumor Around the Temporomandibular Joint: An Entity With Special Radiologic and Pathologic Features. ( 30796908 )
2019
10
Arthroscopic Treatment of Diffuse Pigmented Villonodular Synovitis of the Knee: Complete Synovectomy and Septum Removal-Midterm Results. ( 29727868 )
2019
11
Complications After Total Knee Arthroplasty in Patients With Pigmented Villonodular Synovitis. ( 30266323 )
2019
12
The effects of radiosynoviorthesis in pigmented villonodular synovitis of the knee. ( 30539286 )
2019
13
Pigmented Villonodular Synovitis: Novel Role of Dual-Energy CT. ( 30614893 )
2019
14
Atypical Presentation of Pigmented Villonodular Synovitis: A Case Report. ( 30787857 )
2019
15
Osteochondral Lesion in Diffuse Pigmented Villonodular Synovitis of the Knee. ( 30871295 )
2019
16
Distinct extra-articular invasion patterns of diffuse pigmented villonodular synovitis/tenosynovial giant cell tumor in the knee joints. ( 29637236 )
2018
17
Successful treatment of a diffuse type tenosynovial giant cell tumor in the thoracic spine mimicking spinal metastasis by frozen recapping laminoplasty in a patient with thyroid cancer. ( 29663145 )
2018
18
Hot shoulder PET/CT lesion: Unusual presentation of tenosynovial giant cell tumor. ( 29988775 )
2018
19
Tenosynovial giant cell tumor: case report of a patient effectively treated with pexidartinib (PLX3397) and review of the literature. ( 30002809 )
2018
20
Tenosynovial Giant Cell Tumor of the Clinoid: Rare Condition. ( 30026165 )
2018
21
Bone Involvement Mimicking an Aggressive Bone Lesion in a Diffuse-type Tenosynovial Giant Cell Tumor in the Thoracic Vertebral Lamina: A Case Report. ( 30584508 )
2018
22
Clinical characteristics and treatment outcomes in six cases of malignant tenosynovial giant cell tumor: initial experience of molecularly targeted therapy. ( 30594158 )
2018
23
Concomitant Spondyloarthritis and Tenosynovial Giant Cell Tumor in Pigmented Villonodular Synovitis Challenging Cases. ( 30601200 )
2018
24
Chondroid Tenosynovial Giant Cell Tumor of Temporomandibular Joint. ( 30693256 )
2018
25
Tenosynovial Giant Cell Tumor in the Midfoot Treated With Femoral Head Allograft Reconstruction. ( 28864387 )
2018
26
Pitfalls in the cytological diagnosis of tenosynovial giant cell tumor: An illustration of eight discordant cases. ( 28941190 )
2018
27
Extra-articular tenosynovial giant cell tumor of diffuse type in the temporal area with brain parenchymal invasion: a case report. ( 29334779 )
2018
28
An unusual case of pigmented villonodular synovitis after total knee arthroplasty presenting with recurrent hemarthrosis. ( 30560170 )
2018
29
Diffuse Pigmented Villonodular Synovitis as a Rare Cause of Graft Failure Following Anterior Cruciate Ligament Reconstruction. ( 28776631 )
2018
30
Long-term outcome of pigmented villonodular synovitis of the hip after joint preserving therapy. ( 29282525 )
2018
31
Pigmented villonodular synovitis in pediatric population: review of literature and a case report. ( 29343257 )
2018
32
Long-Term Outcome of Hip Arthroplasty in the Setting of Pigmented Villonodular Synovitis. ( 29352684 )
2018
33
Pigmented Villonodular Synovitis: A Close Mimic of Metastasis on 18F-fluorodeoxyglucose Positron Emission Tomography/Computed Tomography. ( 29430127 )
2018
34
Necessity of adjuvant postoperative radiotherapy for diffuse pigmented villonodular synovitis of the knee: A case report and literature review. ( 29504995 )
2018
35
Nilotinib in locally advanced pigmented villonodular synovitis: a multicentre, open-label, single-arm, phase 2 trial. ( 29571946 )
2018
36
Nilotinib in locally advanced pigmented villonodular synovitis: challenges of a new targeted therapy. ( 29571947 )
2018
37
Arthroscopic Management of Pigmented Villonodular Synovitis of the Hip in Children and Adolescents. ( 29594178 )
2018
38
Diffuse Pigmented Villonodular Synovitis Around the Ankle. ( 29634303 )
2018
39
Pigmented villonodular synovitis managed by total synovectomy and cementless total hip arthroplasty. ( 29700612 )
2018
40
Lowering the recurrence rate in pigmented villonodular synovitis: A series of 120 resections. ( 29788491 )
2018
41
Computed Tomography Findings of Pigmented Villonodular Synovitis in a Dog. ( 29864767 )
2018
42
Recurrent pigmented villonodular synovitis of the temporomandibular joint. ( 29904498 )
2018
43
Pigmented Villonodular Synovitis of the Knee: An Underappreciated Source of Pain in Children and Adolescents. ( 29917011 )
2018
44
Localized Pigmented Villonodular Synovitis of the Posterior Knee Compartment with Popliteal Vessel Compression: A Case Report of Arthroscopic Resection Using Only Anterior Knee Portals. ( 30034899 )
2018
45
BILATERAL LOCALIZED PIGMENTED VILLONODULAR SYNOVITIS OF THE KNEE: CASE REPORT AND REVIEW. ( 30038543 )
2018
46
Diffuse Pigmented Villonodular Synovitis of the Subtalar Joint. ( 30039025 )
2018
47
A Rare Incidence of Pigmented Villonodular Synovitis of the Ankle in an Adolescent. ( 30146337 )
2018
48
Modified Lemaire extra-articular stabilisation of the knee for the treatment of anterolateral instability combined with diffuse pigmented villonodular synovitis: a case report. ( 30205827 )
2018
49
The predictive value of preoperative neutrophil-lymphocyte ratio (NLR) on the recurrence of the local pigmented villonodular synovitis of the knee joint. ( 30227838 )
2018
50
Pigmented villonodular synovitis does not influence the outcome following cementless total hip arthroplasty using ceramic-on-ceramic articulation: a case-control study with middle-term follow-up. ( 30458820 )
2018

Variations for Pigmented Villonodular Synovitis

Expression for Pigmented Villonodular Synovitis

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

Pathways for Pigmented Villonodular Synovitis

Pathways related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53
2
Show member pathways
12.45 CSF1R MMP9 PTPN11 TP53
3
Show member pathways
12.07 ACP5 CALCR TNFSF11
4 11.94 MMP9 PTPN11 TP53
5
Show member pathways
11.91 PTPN11 TNFSF11 TP53
6 11.88 CSF1R MMP9 TP53
7 11.46 ACP5 CSF1 TNFSF11
8
Show member pathways
11.28 CSF1 CSF1R
9 11.27 PTPN11 TP53
10 11.25 CSF1 CSF1R
11 11.21 MMP9 PTPN11
12 11.18 CALCR TNFSF11
13
Show member pathways
11.13 CSF1 CSF1R
14 11.13 ACP5 CALCR CSF1 CSF1R TNFSF11
15 11.01 CSF1 CSF1R TNFSF11
16 10.79 CSF1 CSF1R PTPN11
17 10.57 ACP5 TNFSF11

GO Terms for Pigmented Villonodular Synovitis

Cellular components related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CSF1-CSF1R complex GO:1990682 8.62 CSF1 CSF1R

Biological processes related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.74 CSF1 CSF1R TP53
2 cell differentiation GO:0030154 9.72 CSF1 TNFSF11 TP53
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.71 CALCR CSF1R PTPN11
4 positive regulation of gene expression GO:0010628 9.71 CALCR CSF1 TNFSF11 TP53
5 positive regulation of cell migration GO:0030335 9.69 CSF1 CSF1R MMP9
6 positive regulation of protein kinase B signaling GO:0051897 9.61 CALCR PTPN11 TNFSF11
7 cellular response to cytokine stimulus GO:0071345 9.56 CSF1R PTPN11
8 ossification GO:0001503 9.54 ACP5 MMP9 TNFSF11
9 homeostasis of number of cells within a tissue GO:0048873 9.52 CSF1 PTPN11
10 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.49 MMP9 TP53
11 bone resorption GO:0045453 9.48 ACP5 TNFSF11
12 positive regulation of osteoclast differentiation GO:0045672 9.46 CSF1 TNFSF11
13 macrophage differentiation GO:0030225 9.33 CSF1 CSF1R MMP9
14 macrophage colony-stimulating factor signaling pathway GO:0038145 9.32 CSF1 CSF1R
15 osteoclast proliferation GO:0002158 9.26 CSF1 TNFSF11
16 osteoclast differentiation GO:0030316 9.26 CALCR CSF1 CSF1R TNFSF11
17 cytokine-mediated signaling pathway GO:0019221 9.1 CSF1 CSF1R MMP9 PTPN11 TNFSF11 TP53

Molecular functions related to Pigmented Villonodular Synovitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 8.62 PTPN11 TP53

Sources for Pigmented Villonodular Synovitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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