This is a non-core endpoint: only basic statistics are computed.
Congenital dyserythropoietic anaemia
D3_CONGENDYSERYTHANAEMIA
No definition available.
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 filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
25 |
4. Check minimum number of eventsNone |
25 |
5. Include endpointsNone |
25 |
6. Filter based on genotype QC (FinnGen only) |
25 |
Control definitions (FinnGen only)
- Control exclude
- D3_APLASTICANDOTHANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D64
- Name in latin
- Anaemia dyserythropoetica congenita
Similar endpoints
↥List of similar endpoints to
Congenital dyserythropoietic anaemia
based on the number of shared cases.
Similar with more cases:
- Other anaemias
- Aplastic and other anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 242 | 127 | 112 |
| Only index persons | 165 | 97 | 68 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 70.67 | 72.38 | 68.67 |
| Only index persons | 65.83 | 66.47 | 64.92 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 25 | 11 | 14 |
| Unadjusted period prevalence (%) | 0.01 | 0.00 | 0.01 |
| Median age at first event (years) | 59.51 | 50.09 | 66.91 |
-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
Not a core endpoint, no data to show.
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.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
6
7
10.76
3.46
3.8
2.9
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
6
16
4.58
2.07
6.7
3.1
u/l
222.3
261.9
—
6
16
(3000991) Gas panel - Venous blood
5
12
4.91
1.92
5.0
4.0
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
7
24
3.64
1.89
2.4
1.9
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
0
44
0.00
1.72
0.0
1.4
—
1.3
—
0
36
(40758558) Short blood count panel - Blood
11
53
2.92
1.70
10.8
6.4
—
—
—
0
0
(3022145) Colonoscopy Study observation
5
15
3.89
1.60
1.4
1.3
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
5
15
3.89
1.60
1.6
6.5
mmol/l
1.2
1.2
—
5
15
(3026782) Osmolality of Urine
9
41
2.85
1.58
5.9
2.6
mosm/kgh2o
521.7
512.7
—
9
34
(42870588) Differential panel, method unspecified - Blood
12
65
2.63
1.45
8.4
5.6
—
—
—
0
0
(3015736) pH of Urine
13
75
2.53
1.37
4.5
4.3
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
8
38
2.61
1.34
7.0
6.9
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
11
59
2.54
1.33
4.7
2.4
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
5
20
2.86
1.21
1.6
1.6
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
12
70
2.37
1.20
6.0
3.0
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
10
56
2.31
1.07
3.5
2.7
mmol/l
5.3
8.4
—
5
43
(3044889) 12 lead EKG panel
16
115
2.08
1.02
5.1
4.2
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
12
75
2.15
0.98
9.3
2.9
e6/l
32.9
33.1
0.00
12
56
(3041096) Erythrocytes [Presence] in Urine by Automated
9
56
1.94
0.85
6.6
3.5
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
10
63
1.98
0.76
4.4
3.2
mmol/l
2.3
2.3
—
10
58
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
11
74
1.87
0.68
7.7
5.0
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
9
58
1.86
0.66
6.1
4.5
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
0
20
0.00
0.63
0.0
1.5
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
0
19
0.00
0.63
0.0
1.4
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
10
70
1.71
0.52
4.0
4.9
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
14
108
1.67
0.51
2.6
2.7
u/l
48.9
45.6
0.08
14
101
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
8
55
1.66
0.50
2.0
2.4
u/l
60.1
54.6
—
8
50
(3044640) Blood type and Crossmatch panel - Blood
8
56
1.63
0.49
4.0
2.1
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
12
91
1.61
0.45
6.8
7.5
umol/l
13.2
14.4
0.11
12
83
(4010399)
0
16
0.00
0.42
0.0
1.2
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
19
164
1.66
0.42
10.9
6.7
mmol/mol
44.6
41.5
0.36
19
147
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
0
17
0.00
0.42
0.0
1.3
—
—
—
0
0
(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum
0
17
0.00
0.42
0.0
2.6
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
14
112
1.57
0.41
5.7
3.8
mmol/l
7.6
6.8
0.43
14
103
(3011397) Hemoglobin [Presence] in Urine by Test strip
6
42
1.56
0.39
6.7
5.2
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
5
37
1.44
0.25
4.4
2.2
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
6
48
1.33
0.22
1.3
1.5
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
0
11
0.00
0.22
0.0
1.6
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
11
0.00
0.22
0.0
1.7
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.22
0.0
1.9
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
0
12
0.00
0.21
0.0
1.5
—
1.4
—
0
12
(3019225) pH of Specimen
0
14
0.00
0.20
0.0
4.4
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
7
59
1.26
0.20
7.0
3.2
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
15
132
1.34
0.20
6.3
4.7
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
20
185
1.40
0.20
24.6
14.7
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
18
163
1.37
0.18
3.8
3.9
mmol/l
1.3
1.2
0.24
18
146
(3013512) EKG study
7
64
1.13
0.09
7.4
4.2
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
6
72
0.78
0.09
2.7
2.0
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
8
74
1.12
0.09
8.6
4.8
mmol/l
1.2
1.2
—
8
68
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
18
172
1.17
0.08
3.9
4.2
mmol/l
1.2
1.4
1.03
18
155
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
11
109
1.02
0.00
2.3
2.7
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
0
5
0.00
0.00
0.0
4.4
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
18
175
1.10
0.00
6.3
4.7
mmol/l
6.2
6.0
0.22
18
155
(3018405) Lactate [Moles/volume] in Arterial blood
0
8
0.00
0.00
0.0
3.3
—
1.1
—
0
8
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
18
174
1.12
0.00
4.1
4.2
mmol/l
4.0
4.4
0.92
18
156
(40768800) Prostate Pathology biopsy report
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
18
180
1.00
0.00
5.1
4.8
mmol/l
2.2
2.6
0.88
18
161
(3005570) Glucose [Moles/volume] in Urine
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004451) EKG impression Narrative
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(1002224) Polysomnography panel
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
6
60
1.00
0.00
2.0
3.2
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_CONGENDYSERYTHANAEMIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_CONGENDYSERYTHANAEMIA | 2.533 [1.71, 3.76] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.187 |
During the follow-up period (1.1.1998 — 31.12.2019), 68 out of 123 females with D3_CONGENDYSERYTHANAEMIA died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have D3_CONGENDYSERYTHANAEMIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.3% | No data |
| 5 | 1.5% | No data |
| 10 | 3.515% | No data |
| 15 | 6.704% | No data |
| 20 | 11.991% | No data |
Relationships between endpoints
↥Index endpoint: D3_CONGENDYSERYTHANAEMIA – Congenital dyserythropoietic anaemia
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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