pigmented villonodular synovitis: Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
276 |
4. Check minimum number of eventsNone |
276 |
5. Include endpointsNone |
276 |
6. Filter based on genotype QC (FinnGen only) |
262 |
Control definitions (FinnGen only)
Control exclude
M13_ARTHROPATHIES
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M12
Name in latin
Synovitis villonodularis [pigmentata]
Similar endpoints
↥List of similar endpoints to
Villonodular synovitis (pigmented)
based on the number of shared cases.
Similar with more cases:
- Other specific arthropathies
- Polyarthropathies
- Finngen Rheumatological endpoints
- Arthropathies
- Diseases of the musculoskeletal system and connective tissue
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2060 | 1083 | 962 |
| Only index persons | 1901 | 1014 | 887 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.04 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 39.12 | 40.66 | 37.21 |
| Only index persons | 38.21 | 39.93 | 36.25 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 262 | 159 | 103 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.05 |
| Median age at first event (years) | 40.06 | 40.74 | 39.00 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
Mortality – FinRegistry
↥Association
Association between endpoint M13_VILLONODULAR and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have M13_VILLONODULAR.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: M13_VILLONODULAR – Villonodular synovitis (pigmented)
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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