Kidney diseases associated to Fabry's disease

E4_FABRY_KIDNEY

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 — E75.2 Cause of death: ICD-10 — E75.2 2 out of 7 registries used, show all original rules.	64
4. Check minimum number of events None	64
5. Include endpoints None	64
6. Filter based on genotype QC (FinnGen only)	64

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

First used in FinnGen datafreeze: DF12

NAME	E4_FABRY_KIDNEY
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E752
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E752
COD_ICD_9
COD_ICD_8
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 Kidney diseases associated to Fabry's disease 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-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	64	50	14
Unadjusted period prevalence (%)	0.01	0.02	0.01
Median age at first event (years)	47.32	47.68	46.00

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

53.16

22.38

4.9

2.9

1.3

1.0

mg/l

—

(3012516) Albumin [Mass/volume] in Urine

108

7.68

15.29

5.1

3.1

1516.5

31.1

mg/l

0.50

(3024561) Albumin [Mass/volume] in Serum or Plasma

174

8.03

13.89

5.9

4.4

37.6

36.0

g/l

1.31

164

(3020682) Albumin/Creatinine [Ratio] in Urine

118

6.47

12.74

5.7

3.9

9.3

5.7

mg/mmol

0.22

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

8.02

11.63

3.1

1.9

91.2

79.5

ml/min/173m2

0.40

(3009508) Creatinine [Moles/volume] in Urine

131

5.68

10.96

5.3

2.7

7.9

7.5

mmol/l

0.18

113

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

147

4.60

8.44

4.0

3.2

30.6

25.7

ng/l

0.20

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

201

4.80

8.29

4.5

2.1

73.1

76.5

nmol/l

0.51

180

(42870588) Differential panel, method unspecified - Blood

150

4.48

8.15

7.1

5.1

—

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

160

3.40

5.49

4.2

2.7

—

(36304419) Bacteria [Presence] in Urine

129

3.08

4.51

3.8

2.6

—

(3018095) Leukocytes [#/volume] in Urine

169

2.97

4.38

4.6

3.2

12.3

79.1

e6/l

1.37

121

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

4.37

3.68

3.9

1.7

1.2

2.7

mg/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

353

3.19

3.58

4.9

4.0

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

7.69

3.46

3.7

4.0

55.3

57.8

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

7.69

3.46

3.7

2.3

3.3

4.6

e9/l

—

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

203

2.60

3.44

12.5

7.5

1.2

mmol/l

0.12

174

(3004588) Protein electrophoresis panel - Serum or Plasma

5.33

3.38

3.3

1.5

—

(3012544) pH of Venous blood

3.70

3.23

3.4

3.1

—

(40760888) Immunoglobulin light chains.free panel - Serum

10.68

3.03

2.6

1.0

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

7.21

2.93

3.3

1.2

—

(3000492) Spirometry study

3.07

2.82

1.5

1.4

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

5.10

2.68

3.3

1.1

—

(3037756) Immunofixation for Serum or Plasma

6.66

2.41

1.8

1.5

—

(3000991) Gas panel - Venous blood

3.32

2.25

4.0

8.2

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

2.49

2.19

3.5

2.5

1.8

2.8

e6/l

—

(3032080) INR in Blood by Coagulation assay

148

2.13

2.12

14.8

6.6

1.6

1.1

inr

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

5.32

2.11

3.2

1.2

0.0

g/l

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

2.44

2.00

7.1

4.2

0.8

mmol/l

0.08

(3022313) Gas panel - Capillary blood

4.83

1.98

4.4

1.0

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

2.30

1.96

3.3

2.3

0.7

0.8

e6/l

0.15

(3015736) pH of Urine

207

1.97

1.85

3.2

2.9

—

(40758558) Short blood count panel - Blood

131

2.04

1.80

10.1

5.6

—

(3025941) Bacteria identified in Stool by Culture

3.14

1.78

1.1

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.78

1.56

2.6

2.1

—

(3023368) Bacteria identified in Blood by Culture

2.02

1.54

6.5

4.3

—

(40761535) Cells panel - Urine sediment

2.47

1.32

2.9

3.0

—

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

180

1.75

1.29

1.9

1.7

94.7

101.3

pmol/l

0.32

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

258

1.68

1.19

3.7

3.1

0.0

estimate

—

(3000494) Fungus identified in Specimen by Culture

2.14

1.18

1.6

1.9

—

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

2.62

1.17

1.4

1.6

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.14

1.17

2.9

2.3

268.0

364.3

nmol/l

—

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

260

1.66

1.14

5.5

4.3

0.0

estimate

—

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

2.08

1.13

4.4

2.8

—

(3044889) 12 lead EKG panel

330

1.67

1.12

5.3

3.3

—

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

1.94

1.09

1.3

1.5

—

(3019225) pH of Specimen

2.26

1.09

6.0

3.6

—

(40761536) Microorganisms panel - Urine sediment

2.06

1.08

4.9

3.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.02

1.06

1.4

—

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

264

1.61

1.05

3.8

3.1

0.0

estimate

—

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

110

1.74

1.04

3.4

3.0

—

(3044640) Blood type and Crossmatch panel - Blood

128

1.69

1.01

1.9

2.2

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.99

0.0

1.5

—

213.4

—

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

125

0.51

0.89

2.3

2.5

—

(3022145) Colonoscopy Study observation

1.80

0.84

1.0

1.3

—

(3019060) Gas panel - Arterial blood

0.00

0.81

0.0

23.1

—

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

118

0.54

0.77

2.1

2.3

—

(3013512) EKG study

119

1.58

0.77

5.1

2.7

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

1.85

0.67

4.0

1.4

—

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

1.72

0.65

1.5

—

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

1.68

0.64

1.5

—

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

1.55

0.63

1.6

2.1

—

(4035726)

1.84

0.60

1.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.52

0.56

1.7

—

(3007164) IgA [Mass/volume] in Serum or Plasma

130

1.42

0.51

1.4

1.2

2.4

2.3

g/l

—

(3042936) Bacteria identified in Isolate by Culture

1.52

0.45

2.1

3.5

—

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

148

0.69

0.45

2.5

2.1

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

492

1.45

0.45

19.4

9.1

86.4

86.7

ml/min/173m2

0.02

378

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

539

1.53

0.44

19.6

11.0

22.0

20.2

mg/l

0.14

393

(3031040) Bacteria [#/volume] in Urine by Automated count

347

1.32

0.43

4.5

3.9

—

1405.8

—

(3020891) Body temperature

0.00

0.42

0.0

4.9

—

(40768793) Breast Pathology biopsy report

0.00

0.42

0.0

1.3

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

4.1

—

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

0.00

0.42

0.0

1.5

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

1.2

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.42

0.0

1.2

—

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

0.00

0.42

0.0

3.6

—

1.1

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.41

0.0

1.2

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.40

0.0

1.2

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.40

0.0

1.2

—

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

155

1.32

0.38

3.5

3.0

2.2

2.4

mmol/l

2.44

137

(4010399)

1.47

0.37

2.2

1.3

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

456

1.32

0.35

7.5

4.7

37.8

38.6

mmol/mol

0.28

428

(3009542) Hematocrit [Volume Fraction] of Blood

520

0.75

0.34

21.9

11.4

39.4

39.9

0.18

399

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

141

0.73

0.34

1.9

1.5

0.9

1.3

mmol/l

2.13

115

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

140

0.74

0.32

1.4

1.5

—

(40761511) CBC panel - Blood by Automated count

560

1.38

0.26

17.5

9.8

—

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

112

0.77

0.22

2.3

1.7

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.4

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

3.5

—

19.8

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

1.7

—

789.1

—

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

142

0.81

0.20

1.3

1.6

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.17

0.19

1.5

2.0

—

(40768797) Stomach Pathology biopsy report

1.26

0.19

1.0

1.2

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

1.26

0.19

4.6

6.4

—

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

384

0.86

0.19

3.5

3.7

—

(3026008) Bacteria identified in Urine by Culture

168

1.19

0.18

2.3

2.6

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.74

0.18

3.2

2.1

—

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

212

1.13

0.12

4.2

3.1

—

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

224

1.11

0.10

3.0

4.6

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

1.15

0.10

2.4

1.7

39.6

28.8

u/l

—

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

139

1.10

0.06

4.5

3.4

0.0

estimate

—

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

141

0.90

0.06

1.7

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

159

1.09

0.06

3.9

2.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

130

1.10

0.05

6.4

4.0

—

(40768804) Tissue Pathology biopsy report

216

0.96

0.00

1.4

1.8

—

(1761868) Lipid panel - Serum or Plasma

177

1.02

0.00

3.7

2.5

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.01

0.00

1.2

1.7

—

(3002256) Pathology report gross observation

0.96

0.00

1.2

1.1

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

1.3

—

1.6

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

2.9

—

22.9

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

0.0

1.0

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

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

1.0

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

99.6

—

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

0.00

0.0

1.1

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.0

1.0

—

22.1

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.0

—

(4268621)

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

1.02

0.00

4.1

5.0

1.1

2.5

ug/l

—

(4281824)

0.00

0.0

1.2

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.2

—

90.8

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.8

—

(3035320) C reactive protein [Mass/volume] in Body fluid

0.00

0.0

1.2

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.3

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

(4034850)

0.00

0.0

8.1

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

411.2

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.5

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.6

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.2

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.88

0.00

2.3

1.5

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: E4_FABRY_KIDNEY – Kidney diseases associated to Fabry's disease

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Kidney diseases associated to Fabry's disease

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Kidney diseases associated to Fabry's disease (E4_FABRY_KIDNEY)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints