connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Systemic disorders of connective tissue in diseases classified elsewhere (FG)
DOID EFO Endpoint Browser PheWeb
SYSTINOTH_FG
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersNone 0 out of 7 registries used, show all original rules. |
0 |
4. Check minimum number of eventsNone |
0 |
5. Include endpoints |
76 |
6. Filter based on genotype QC (FinnGen only) |
76 |
Control definitions (FinnGen only)
- Control exclude
- RHEUMA_ENDPOINTS
Extra metadata
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Systemic disorders of connective tissue in diseases classified elsewhere (FG)
based on the number of shared cases.
Similar with more cases:
- Systemic disorders of connective tissue in diseases classified elsewhere
- Other systemic involvement of connective tissue
- Systemic connective tissue disorders
- Finngen Rheumatological endpoints
- Diseases of the musculoskeletal system and connective tissue
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1123 | 499 | 623 |
| Only index persons | 887 | 401 | 486 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 14.71 | 17.68 | 12.30 |
| Only index persons | 19.58 | 23.11 | 16.67 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 76 | 43 | 33 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 56.48 | 52.64 | 61.50 |
-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
- 70
- Matched controls
- 700
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M36.4*D69.0
ICD-10 Finland
Arthropathy in Henoch(-Schönlein) purpura
+∞
44.6
38
*
D69.0
ICD-10 Finland
Allergic purpura
227.8
29.1
28
*
M36.1*C90.0
ICD-10 Finland
Arthropathy in multiple myeloma
+∞
18.5
17
*
C90.0
ICD-10 Finland
Multiple myeloma
220.4
17.3
17
*
9732/3-C42.1
ICD-O-3
Plasma cell myeloma of bone marrow
187.6
15.1
15
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
44.0
14.3
17
5
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
7.6
13.7
41
109
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
57.4
12.4
14
*
N08.2*D69.0
ICD-10 Finland
Glomerular disorders in Henoch(-Schönlein) purpura
+∞
11.8
11
*
M36.4
ICD-10 Finland
Arthropathy in hypersensitivity reactions classified elsewhere
+∞
10.7
10
*
M13.9
ICD-10 Finland
Arthritis, unspecified
31.4
10.2
13
5
N02AA05
ATC
oxycodone; systemic
8.6
9.0
20
31
H02AB06
ATC
prednisolone; systemic
4.7
8.7
43
176
M05BA02
ATC
clodronic acid; systemic
101.8
8.6
9
*
L04AX04
ATC
lenalidomide; oral
101.8
8.6
9
*
M04AA01
ATC
allopurinol; systemic
8.6
8.3
18
27
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
15.6
8.3
13
10
H02AB02
ATC
dexamethasone; systemic
7.5
7.9
19
33
153
Kela drug reimbursment
Lenalidomid
89.1
7.6
8
*
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
+∞
7.4
7
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.9
7.0
20
44
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
25.4
6.9
9
*
R50.9
ICD-10 Finland
Fever, unspecified
5.3
6.8
22
56
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
8.9
6.8
14
19
NE1AA
NOMESCO Finland
Pelvis X-ray examination
9.7
6.7
13
16
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
16.4
6.6
10
7
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.8
6.6
38
167
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
12.8
6.6
11
10
L01AA03
ATC
melphalan; systemic
+∞
6.3
6
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
14.3
6.3
10
8
N02AB03
ATC
fentanyl; nasal, sublingual, transdermal
14.3
6.3
10
8
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
11.6
6.3
11
11
A02BC02
ATC
pantoprazole; systemic
3.8
6.3
51
291
B01AB05
ATC
enoxaparin; parenteral
4.2
6.1
26
87
J01FF01
ATC
clindamycin; systemic
4.1
6.0
26
88
Mortality – FinRegistry
↥Association
Association between endpoint SYSTINOTH_FG and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| SYSTINOTH_FG | 6.501 [4.18, 10.11] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.748 |
During the follow-up period (1.1.1998 — 31.12.2019), 99 out of 452 females with SYSTINOTH_FG died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| SYSTINOTH_FG | 4.561 [2.89, 7.19] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.024 |
During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 560 males with SYSTINOTH_FG died.
Mortality risk
Mortality risk for people of age
years, who have SYSTINOTH_FG.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.869% | 0.862% |
| 5 | 4.764% | 5.226% |
| 10 | 10.807% | 12.795% |
| 15 | 18.419% | 24.153% |
| 20 | 30.062% | 38.855% |
Relationships between endpoints
↥Index endpoint: SYSTINOTH_FG – Systemic disorders of connective tissue in diseases classified elsewhere (FG)
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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