Congenital dyserythropoietic anaemia

D3_CONGENDYSERYTHANAEMIA

No definition available.

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 — D64.4 Cause of death: ICD-10 — D64.4 2 out of 7 registries used, show all original rules.	25
4. Check minimum number of events None	25
5. Include endpoints None	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

NAME	D3_CONGENDYSERYTHANAEMIA
CONTROL_EXCLUDE	D3_APLASTICANDOTHANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D644
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D644
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Congenital dyserythropoietic anaemia based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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)

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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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

10.76

3.46

3.8

2.9

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

4.58

2.07

6.7

3.1

222.3

261.9

u/l

—

(3000991) Gas panel - Venous blood

4.91

1.92

5.0

4.0

—

(3042936) Bacteria identified in Isolate by Culture

3.64

1.89

2.4

1.9

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

0.00

1.72

0.0

1.4

—

1.3

—

(40758558) Short blood count panel - Blood

2.92

1.70

10.8

6.4

—

(3022145) Colonoscopy Study observation

3.89

1.60

1.4

1.3

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

3.89

1.60

1.6

6.5

1.2

mmol/l

—

(3026782) Osmolality of Urine

2.85

1.58

5.9

2.6

521.7

512.7

mosm/kgh2o

—

(42870588) Differential panel, method unspecified - Blood

2.63

1.45

8.4

5.6

—

(3015736) pH of Urine

2.53

1.37

4.5

4.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.61

1.34

7.0

6.9

—

(36304419) Bacteria [Presence] in Urine

2.54

1.33

4.7

2.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.86

1.21

1.6

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.37

1.20

6.0

3.0

—

(3009508) Creatinine [Moles/volume] in Urine

2.31

1.07

3.5

2.7

5.3

8.4

mmol/l

—

(3044889) 12 lead EKG panel

115

2.08

1.02

5.1

4.2

—

(3018095) Leukocytes [#/volume] in Urine

2.15

0.98

9.3

2.9

32.9

33.1

e6/l

0.00

(3041096) Erythrocytes [Presence] in Urine by Automated

1.94

0.85

6.6

3.5

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

1.98

0.76

4.4

3.2

2.3

mmol/l

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

1.87

0.68

7.7

5.0

—

(3023368) Bacteria identified in Blood by Culture

1.86

0.66

6.1

4.5

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

0.00

0.63

0.0

1.5

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

0.00

0.63

0.0

1.4

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

1.71

0.52

4.0

4.9

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

108

1.67

0.51

2.6

2.7

48.9

45.6

u/l

0.08

101

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.66

0.50

2.0

2.4

60.1

54.6

u/l

—

(3044640) Blood type and Crossmatch panel - Blood

1.63

0.49

4.0

2.1

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

1.61

0.45

6.8

7.5

13.2

14.4

umol/l

0.11

(4010399)

0.00

0.42

0.0

1.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

164

1.66

0.42

10.9

6.7

44.6

41.5

mmol/mol

0.36

147

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.00

0.42

0.0

1.3

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.42

0.0

2.6

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

112

1.57

0.41

5.7

3.8

7.6

6.8

mmol/l

0.43

103

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.56

0.39

6.7

5.2

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.44

0.25

4.4

2.2

—

(3003694) ABO and Rh group [Type] in Blood

1.33

0.22

1.3

1.5

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

0.00

0.22

0.0

1.6

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.22

0.0

1.7

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.22

0.0

1.9

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

0.00

0.21

0.0

1.5

—

1.4

—

(3019225) pH of Specimen

0.00

0.20

0.0

4.4

—

(3026008) Bacteria identified in Urine by Culture

1.26

0.20

7.0

3.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

132

1.34

0.20

6.3

4.7

—

(40761511) CBC panel - Blood by Automated count

185

1.40

0.20

24.6

14.7

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

163

1.37

0.18

3.8

3.9

1.3

1.2

mmol/l

0.24

146

(3013512) EKG study

1.13

0.09

7.4

4.2

—

(40768804) Tissue Pathology biopsy report

0.78

0.09

2.7

2.0

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

1.12

0.09

8.6

4.8

1.2

mmol/l

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

172

1.17

0.08

3.9

4.2

1.2

1.4

mmol/l

1.03

155

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

109

1.02

0.00

2.3

2.7

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.0

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

1.8

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.0

4.4

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

175

1.10

0.00

6.3

4.7

6.2

6.0

mmol/l

0.22

155

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.0

3.3

—

1.1

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.2

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

174

1.12

0.00

4.1

4.2

4.0

4.4

mmol/l

0.92

156

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.4

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

180

1.00

0.00

5.1

4.8

2.2

2.6

mmol/l

0.88

161

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.4

—

(36660697) Celiac disease serology panel - Serum

0.00

0.0

1.0

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.0

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.1

—

(3004451) EKG impression Narrative

0.00

0.0

1.4

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.7

—

(1002224) Polysomnography panel

0.00

0.0

1.2

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.3

—

(1761868) Lipid panel - Serum or Plasma

1.00

0.00

2.0

3.2

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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 data

Mortality 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]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Congenital dyserythropoietic anaemia

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints