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Myelofibrosis

MYELOFIBROSIS

primary myelofibrosis: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

Suggest a new description

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 C94.5
  • Hospital discharge: ICD-9 2387A
  • Hospital discharge: ICD-8 209
  • Cause of death: ICD-10 C94.5
  • Cause of death: ICD-9 2387A
  • Cause of death: ICD-8 209

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

26

4. Check minimum number of events

None

26

5. Include endpoints

None

26

6. Filter based on genotype QC (FinnGen only)

26

Control definitions (FinnGen only)

Control exclude
MYELOPROF

Extra metadata

First used in FinnGen datafreeze
DF2, additional

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 1166 538 578
Only index persons 125 73 52
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 68.79 68.12 69.58
Only index persons 44.03 44.89 42.83

-FinnGen-

Key figures

All Female Male
Number of individuals 26 9 17
Unadjusted period prevalence (%) 0.01 0.00 0.01
Median age at first event (years) 50.83 36.38 58.48

-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
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
9
17
7.47
3.93
10.7
1.9
u/l
437.1
269.1
—
9
17
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
10
31
4.62
3.15
1.6
1.8
mg/l
2.9
3.1
—
10
26
(3002030) Lymphocytes/100 leukocytes in Blood
14
63
3.65
2.59
15.8
4.7
%
24.5
25.1
0.08
14
57
(3018010) Neutrophils/100 leukocytes in Blood
13
62
3.19
2.10
16.1
4.7
%
57.7
59.9
0.28
13
56
(40760892) CBC W Ordered Manual Differential panel - Blood
8
29
3.52
1.99
10.7
3.8
—
—
—
0
0
(3019069) Monocytes/100 leukocytes in Blood
12
62
2.74
1.60
15.8
4.5
%
8.7
8.9
0.10
12
56
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
5
15
3.86
1.60
2.2
1.7
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
5
15
3.86
1.60
1.8
1.7
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
7
28
3.04
1.58
5.7
2.8
umol/l
34543.1
16445.3
—
7
20
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
11
57
2.61
1.43
8.3
3.6
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
5
17
3.38
1.43
1.8
2.4
s
30.0
29.4
—
5
17
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
5
18
3.18
1.35
2.2
1.8
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
8
39
2.51
1.29
2.9
3.8
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
7
34
2.44
1.13
1.6
1.7
—
—
—
0
0
(3021960) Folate [Moles/volume] in Serum or Plasma
7
35
2.36
1.10
2.1
1.7
nmol/l
19.9
18.4
—
7
30
(3013707) Erythrocyte sedimentation rate by Westergren method
15
99
2.22
1.08
5.0
3.5
mm/h
20.7
10.6
1.70
15
87
(42870588) Differential panel, method unspecified - Blood
8
42
2.30
1.01
13.4
4.3
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
8
43
2.24
0.99
1.6
2.8
mmol/l
2.3
2.4
—
8
38
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
10
58
2.18
0.96
8.5
4.3
mmol/l
1.2
1.2
—
10
51
(3001122) Ferritin [Mass/volume] in Serum or Plasma
9
53
2.06
0.88
2.3
2.4
ug/l
279.8
121.1
—
9
48
(3019309) Folate [Moles/volume] in Red Blood Cells
6
33
2.06
0.85
1.2
1.6
nmol/l
1180.8
1257.0
—
6
24
(3026008) Bacteria identified in Urine by Culture
7
41
1.96
0.78
2.3
3.0
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
8
50
1.86
0.70
1.9
2.2
nmol/l
70.6
76.7
—
8
45
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
10
139
0.54
0.68
4.0
4.0
mmol/l
1.7
1.3
—
10
127
(3044640) Blood type and Crossmatch panel - Blood
6
34
1.99
0.64
2.2
1.8
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
14
103
1.78
0.64
4.9
3.9
pmol/l
15.8
15.2
0.37
14
88
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
11
144
0.59
0.55
3.9
4.6
mmol/l
1.2
1.4
1.68
11
132
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
12
149
0.64
0.43
4.7
5.4
mmol/l
2.7
2.6
0.20
12
135
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
15
123
1.52
0.38
13.8
5.7
u/l
124.5
77.2
0.87
15
113
(3044889) 12 lead EKG panel
13
104
1.50
0.36
3.5
4.1
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
12
145
0.68
0.33
4.0
4.6
mmol/l
4.5
4.5
0.05
12
132
(40761511) CBC panel - Blood by Automated count
13
153
0.70
0.29
27.3
12.8
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
5
36
1.48
0.26
4.2
2.9
%
94.8
92.1
—
5
36
(4010399)
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
10
0.00
0.22
0.0
1.4
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
8
93
0.80
0.17
3.8
4.5
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
5
42
1.23
0.11
1.4
3.3
mg/l
91.2
10.6
—
5
25
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
5
43
1.20
0.11
2.4
1.8
mmol/l
2.2
1.7
—
5
36
(3015736) pH of Urine
5
45
1.14
0.10
2.6
3.2
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
5
45
1.14
0.10
1.4
3.2
mmol/l
10.0
8.2
—
5
40
(3020682) Albumin/Creatinine [Ratio] in Urine
5
47
1.08
0.10
2.2
4.2
mg/mmol
6.0
1.7
—
5
25
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
15
157
0.89
0.02
20.9
9.4
u/l
25.7
24.5
0.13
15
150
(3023103) Potassium [Moles/volume] in Serum or Plasma
15
156
0.91
0.01
26.1
14.2
mmol/l
4.0
4.0
0.07
15
151
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
13
136
0.91
0.01
5.6
5.8
mmol/mol
40.5
40.9
0.04
13
127
(3019550) Sodium [Moles/volume] in Serum or Plasma
15
154
0.94
0.00
26.4
14.4
mmol/l
139.7
139.9
0.17
15
148
(3020564) Creatinine [Moles/volume] in Serum or Plasma
15
154
0.94
0.00
28.9
15.4
umol/l
78.3
77.0
0.07
15
154
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
0
6
0.00
0.00
0.0
2.0
—
—
—
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
(3010421) pH of Blood
0
5
0.00
0.00
0.0
2.2
—
7.4
—
0
5
(40760888) Immunoglobulin light chains.free panel - Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
5
51
0.98
0.00
2.6
3.2
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
6
67
0.86
0.00
3.8
3.0
—
—
—
0
0
(3021387) Prolactin [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
323.4
—
0
5
(3016543) Leukocytes [#/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
1.4
—
0
5
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3027315) Oxygen [Partial pressure] in Blood
0
5
0.00
0.00
0.0
1.8
—
7.8
—
0
5
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
0
5
0.00
0.00
0.0
1.4
—
1.1
—
0
5
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3030981) Hyaline casts [#/volume] in Urine by Automated count
0
5
0.00
0.00
0.0
2.8
—
0.0
—
0
5
(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
14.0
—
0
5
(3013290) Carbon dioxide [Partial pressure] in Blood
0
5
0.00
0.00
0.0
1.8
—
4.7
—
0
5
(3052851) Hemolysis interference index of Serum or Plasma
0
7
0.00
0.00
0.0
3.4
—
—
—
0
0
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
392.2
—
0
5
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
14
140
1.00
0.00
3.5
4.9
mmol/l
6.4
6.1
0.25
14
128
(3019832) Treponema pallidum Ab [Presence] in Serum
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint MYELOFIBROSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have MYELOFIBROSIS.

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: MYELOFIBROSIS – Myelofibrosis

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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