Anaemia due to enzyme disorders

D3_ANAEMIAENZYME

congenital nonspherocytic hemolytic anemia: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.

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 — D55 Hospital discharge: ICD-9 — 282[2-3] Hospital discharge: ICD-8 — 282[2-3] Cause of death: ICD-10 — D55 Cause of death: ICD-9 — 282[2-3] Cause of death: ICD-8 — 282[2-3] 2 out of 7 registries used, show all original rules.	37
4. Check minimum number of events None	37
5. Include endpoints None	37
6. Filter based on genotype QC (FinnGen only)	37

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D55-D59
Name in latin: Anaemiae ex perturbationibus enzymaticis

NAME	D3_ANAEMIAENZYME
CONTROL_EXCLUDE	D3_HAEMOLYTICANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D55
HD_ICD_9	282[2-3]
HD_ICD_8	282[2-3]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D55
COD_ICD_9	282[2-3]
COD_ICD_8	282[2-3]
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

↥

List of similar endpoints to Anaemia due to enzyme disorders 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	378	171	200
Only index persons	293	140	153
Unadjusted period prevalence (%)
Whole population	0.01	0.00	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	40.96	51.70	31.85
Only index persons	41.86	46.03	38.05

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	37	21	16
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	49.36	38.55	63.55

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

16.69

7.13

2.8

1.7

—

(3001604) Monocytes [#/volume] in Blood

145

5.60

5.23

15.5

5.8

0.5

e9/l

0.98

127

(3006315) Basophils [#/volume] in Blood

146

5.54

5.19

15.3

5.8

0.0

e9/l

0.34

128

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

132

4.87

4.68

7.8

9.0

1.2

mmol/l

0.34

114

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

11.94

4.20

2.0

1.0

1.2

g/l

—

(3018418) pH of Serum or Plasma

3.95

4.05

4.1

3.9

7.4

—

(42870588) Differential panel, method unspecified - Blood

3.91

4.00

14.8

6.1

—

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

121

3.80

3.69

13.7

7.7

1.2

mmol/l

0.43

108

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

142

3.80

3.47

29.2

5.5

31.2

19.2

umol/l

1.15

136

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

9.92

3.39

2.2

1.0

0.2

g/l

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

6.90

3.18

9.4

9.2

1.0

1.4

mg/l

—

(3034770) Mitochondria Ab [Titer] in Serum

8.66

3.18

1.3

1.5

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

171

3.61

3.08

20.4

7.9

3.5

4.3

e9/l

0.90

152

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

11.26

3.07

62.8

2.0

116.2

147.2

—

(3021589) Normoblasts [#/volume] in Blood

131

3.00

2.60

20.9

10.9

0.0

0.1

e9/l

0.49

105

(3015171) Extractable nuclear Ab [Units/volume] in Serum

6.21

2.29

1.6

1.4

—

(3003327) Ova and parasites identified in Stool by Light microscopy

5.58

2.14

1.8

1.4

—

(3029937) Albumin [Presence] in Urine by Test strip

2.73

2.12

4.3

4.4

0.0

estimate

—

(3000991) Gas panel - Venous blood

3.35

2.00

23.6

9.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.64

1.87

8.6

4.9

—

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

3.21

1.75

2.9

3.9

1.2

mmol/l

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

2.36

1.69

3.2

1.8

76.0

87.9

pmol/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.95

1.67

2.2

1.3

—

(3021601) Nitrite [Presence] in Urine by Test strip

134

2.31

1.64

4.5

6.5

0.0

estimate

—

(3009261) Glucose [Presence] in Urine by Test strip

137

2.23

1.52

3.9

4.6

0.0

estimate

—

(3035350) Ketones [Presence] in Urine by Test strip

138

2.21

1.49

3.9

4.4

0.0

estimate

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

2.91

1.43

2.2

1.5

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.44

1.43

2.0

1.5

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.44

1.43

2.0

1.5

—

(3015736) pH of Urine

113

2.15

1.41

2.4

4.1

—

(3032080) INR in Blood by Coagulation assay

2.17

1.40

14.2

6.9

1.4

1.2

inr

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.72

1.39

1.8

1.6

—

(40768797) Stomach Pathology biopsy report

2.55

1.34

1.8

1.1

—

(40761536) Microorganisms panel - Urine sediment

2.55

1.24

8.0

4.3

—

(3012544) pH of Venous blood

2.54

1.18

16.7

9.6

—

(4035726)

2.59

1.13

2.2

1.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

199

2.03

1.10

5.1

5.0

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

2.12

1.04

1.4

1.3

—

0.9

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

1.99

0.95

1.0

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

1.90

0.94

19.2

2.5

—

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

1.99

0.92

1.0

1.6

—

(3002256) Pathology report gross observation

2.35

0.79

1.6

1.5

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

2.25

0.78

16.0

13.1

24.6

24.2

mmol/l

—

(3019225) pH of Specimen

2.15

0.76

1.6

3.5

—

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

106

1.70

0.73

4.5

4.3

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

1.98

0.71

4.8

4.0

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.80

0.70

1.9

1.8

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

0.00

0.62

0.0

3.7

—

11.8

—

(3042936) Bacteria identified in Isolate by Culture

1.85

0.61

1.7

1.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

261

1.79

0.60

44.3

13.7

35.9

39.2

1.32

200

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

1.71

0.60

19.9

2.5

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

1.63

0.60

1.1

1.7

—

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

1.59

0.59

2.3

5.0

—

(3002582) Erythrocytes [#/volume] in Urine

1.61

0.56

3.8

3.3

24.3

763.4

e6/l

—

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

1.60

0.51

1.3

1.8

—

(40768804) Tissue Pathology biopsy report

106

1.52

0.49

2.3

2.0

—

(36304419) Bacteria [Presence] in Urine

1.56

0.47

4.0

3.2

—

(3030467) Casts [#/volume] in Urine by Automated count

1.56

0.47

4.0

3.3

0.1

0.3

e6/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.56

0.47

5.2

3.5

—

(3022145) Colonoscopy Study observation

1.65

0.44

1.4

1.3

—

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

1.49

0.43

4.2

3.3

—

(40758558) Short blood count panel - Blood

1.51

0.39

21.0

5.9

—

(3018095) Leukocytes [#/volume] in Urine

102

1.42

0.36

4.2

4.1

26.4

48.5

e6/l

—

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

122

1.39

0.34

16.9

4.3

—

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

1.43

0.34

1.3

1.8

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.22

0.0

1.5

—

(3020891) Body temperature

0.00

0.22

0.0

3.5

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.22

0.0

2.4

—

(3016879) Cocaine [Presence] in Urine

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.4

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.22

0.0

1.3

—

31.4

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3027008) Opiates [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.21

0.0

1.5

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.21

0.0

4.8

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

1.26

0.17

6.3

2.5

31.9

35.7

u/l

0.26

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

1.15

0.17

1.9

1.5

—

(1761868) Lipid panel - Serum or Plasma

1.22

0.13

1.5

2.9

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

1.07

0.10

1.2

1.3

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.12

0.08

1.1

1.9

—

(3023368) Bacteria identified in Blood by Culture

1.09

0.08

4.8

4.0

—

(3044889) 12 lead EKG panel

175

1.06

0.00

3.7

3.9

—

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

216

1.05

0.00

3.2

3.3

—

(4146454)

0.00

0.0

3.4

—

(3026008) Bacteria identified in Urine by Culture

1.01

0.00

4.3

3.2

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

1.8

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.8

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

1.8

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.0

1.1

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.8

—

1.8

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

1.8

—

10.0

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

3.7

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.2

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.9

—

(3019150) Specific gravity of Urine by Refractometry

1.00

0.00

2.3

4.4

—

1.0

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

1.8

—

4.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

3.8

—

90.0

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.2

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

0.89

0.00

20.8

1.7

1.0

1.2

mg/l

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.0

2.0

—

(3013512) EKG study

1.00

0.00

3.3

3.6

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

4.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.3

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

1.3

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.0

1.2

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.0

2.6

—

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

0.00

0.0

1.0

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.0

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

1.8

—

110.0

—

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

0.00

-0.00

0.0

1.2

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

-0.00

0.0

2.3

—

6.7

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

-0.00

0.0

2.3

—

1.4

—

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

0.00

-0.00

0.0

1.1

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.1

—

(3049717) Cytology report of Urine Cyto stain

0.00

-0.00

0.0

1.8

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

-0.00

0.0

5.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_ANAEMIAENZYME and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_ANAEMIAENZYME.

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: D3_ANAEMIAENZYME – Anaemia due to enzyme disorders

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

Anaemia due to enzyme disorders

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