Paget disease

M13_PAGET

osteitis deformans: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 M88
  • Hospital discharge: ICD-9 7310
  • Hospital discharge: ICD-8 72199
  • Cause of death: ICD-10 M88
  • Cause of death: ICD-9 7310
  • Cause of death: ICD-8 72199

2 out of 7 registries used, show all original rules.

169

4. Check minimum number of events

None

169

5. Include endpoints

None

169

6. Filter based on genotype QC (FinnGen only)

169

Control definitions (FinnGen only)

Control exclude
M13_OSTEOCHONDRO

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M86-M90
Name in latin
Osteitis deformans Paget

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1125 513 598
Only index persons 891 427 464
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 66.25 66.30 66.15
Only index persons 64.97 63.99 65.87

-FinnGen-

Key figures

All Female Male
Number of individuals 169 74 95
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 67.23 66.64 67.68

-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

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
155
Matched controls
1548
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M88.9
ICD-10 Finland
Paget disease of bone, unspecified
+∞
104.3
88
*
M88.88
ICD-10 Finland
Paget disease of other bones, other
+∞
85.5
74
*
M88.0
ICD-10 Finland
Paget disease of skull
+∞
20.2
19
*
D48.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage
37.9
16.2
20
6
M88
ICD-10 Finland
Paget disease of bone [osteitis deformans]
+∞
15.9
15
*
ZX120
NOMESCO Finland
Intravenous
5.8
12.5
37
79
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.2
10.7
76
354
7310A
ICD-9 Finland
Osteitis deformans and osteopathies associated with other disorders classified elsewhere, Osteitis deformans without mention of bone tumour
+∞
10.5
10
*
NK6AN
NOMESCO Finland
Total body bone isotope imaging
8.9
8.3
17
21
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
4.2
7.9
30
83
72199
ICD-8 Finland
Osteitis deformans
+∞
7.3
7
*
M79.0
ICD-10 Finland
Rheumatism, unspecified
8.9
7.0
14
17
NK6BN
NOMESCO Finland
Bone dynamic isotope examination
41.9
6.8
8
*
NF1AA
NOMESCO Finland
Hip X-ray examination
3.9
6.7
27
79
N02AX02
ATC
tramadol; systemic, rectal
2.4
6.7
85
515
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
4.8
6.5
21
49
NE1AA
NOMESCO Finland
Pelvis X-ray examination
4.3
6.4
23
60

Mortality – FinRegistry

Association

Association between endpoint M13_PAGET and mortality.

Females

Parameter HR [95% CI] p-value
M13_PAGET 1.012 [0.76, 1.35] 0.938
Birth year 0.999 [0.99, 1.01] 0.783

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 317 females with M13_PAGET died.

Males

Parameter HR [95% CI] p-value
M13_PAGET 1.119 [0.88, 1.43] 0.362
Birth year 0.99 [0.98, 1.0] 0.027

During the follow-up period (1.1.1998 — 31.12.2019), 132 out of 382 males with M13_PAGET died.

Mortality risk

Mortality risk for people of age

years, who have M13_PAGET.

N-year risk Females Males
1 0.097% 0.261%
5 0.632% 1.405%
10 1.7% 3.576%
15 3.327% 6.476%
20 6.058% 11.352%

Relationships between endpoints

Index endpoint: M13_PAGET – Paget disease

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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