Relapsing polychondritis

M13_RELAPSPOLYCHONDR

relapsing polychondritis: Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 M94.1
  • Cause of death: ICD-10 M94.1

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

67

4. Check minimum number of events

None

67

5. Include endpoints

None

67

6. Filter based on genotype QC (FinnGen only)

63

Control definitions (FinnGen only)

Control exclude
M13_OTHERBONE

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
M94
Name in latin
Polychondritis recidiva

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 349 227 121
Only index persons 333 217 116
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.00
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 52.03 50.64 54.42
Only index persons 51.38 50.03 53.90

-FinnGen-

Key figures

All Female Male
Number of individuals 63 46 17
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 51.20 50.21 53.87

-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

No data

-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
67
Matched controls
670
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M94.1
ICD-10 Finland
Relapsing polychondritis
+∞
96.2
67
*
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
30.1
28.6
41
33
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
16.2
19.7
35
42
H02AB06
ATC
prednisolone; systemic
7.6
12.3
53
222
L01BA01
ATC
methotrexate; systemic (folic acid analog.)
15.7
9.4
15
12
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
4.6
8.0
36
134
L04AX01
ATC
azathioprine; systemic
11.2
7.2
13
14
A46
ICD-10 Finland
Erysipelas
6.8
7.1
18
34
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.1
6.6
32
122
H62.0*A46
ICD-10 Finland
Otitis externa in erysipelas
76.9
6.5
7
*
P01BA02
ATC
hydroxychloroquine; oral
6.1
6.3
17
35
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.8
6.2
38
173
J01FA06
ATC
roxithromycin; oral
3.7
6.1
40
193

Mortality – FinRegistry

Association

Association between endpoint M13_RELAPSPOLYCHONDR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_RELAPSPOLYCHONDR.

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_RELAPSPOLYCHONDR – Relapsing polychondritis

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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