Von Hippel-Lindau syndrome

Q17_VON_HIPPEL

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 — Q85.82 Cause of death: ICD-10 — Q85.82 2 out of 7 registries used, show all original rules.	30
4. Check minimum number of events None	30
5. Include endpoints None	30
6. Filter based on genotype QC (FinnGen only)	30

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze: DF12

NAME	Q17_VON_HIPPEL
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q8582
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q8582
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 Von Hippel-Lindau syndrome 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	30	17	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	36.36	45.33	24.64

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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

(3010370) Gastrin [Moles/volume] in Serum or Plasma

+∞

6.46

3.5

0.0

22.3

—

pmol/l

—

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

106

7.28

5.59

3.8

4.4

—

(3018418) pH of Serum or Plasma

6.00

5.57

7.9

4.3

7.4

—

(3044640) Blood type and Crossmatch panel - Blood

5.47

4.93

2.5

2.2

—

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

9.42

4.16

7.9

2.7

24.6

25.1

mmol/l

—

(3000991) Gas panel - Venous blood

8.61

3.97

6.9

3.8

—

(36304419) Bacteria [Presence] in Urine

4.48

3.92

2.9

2.8

—

(3032080) INR in Blood by Coagulation assay

4.46

3.91

12.4

7.8

1.3

1.1

inr

—

(4035726)

7.34

3.62

2.0

1.1

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

8.71

3.58

6.4

3.5

0.6

0.5

—

(3014007) Fractional oxyhemoglobin in Arterial blood

8.71

3.58

6.4

3.5

97.1

95.9

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

8.71

3.58

6.4

3.5

0.7

1.1

—

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

4.17

3.48

2.6

2.3

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

5.94

3.44

3.2

3.3

105.6

103.1

mmol/l

—

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

3.69

3.01

3.6

2.7

—

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

3.56

2.73

4.0

3.5

0.0

estimate

—

(3023368) Bacteria identified in Blood by Culture

3.48

2.64

6.1

3.4

—

(3020779) Urea [Moles/volume] in Serum or Plasma

5.94

2.54

5.8

3.8

13.4

8.3

mmol/l

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

5.94

2.54

2.2

5.2

—

(3042936) Bacteria identified in Isolate by Culture

3.81

2.20

1.6

2.5

—

(3015736) pH of Urine

2.63

1.71

2.5

3.1

—

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

2.58

1.65

1.2

1.3

—

(3000850) Epithelial cells [#/volume] in Urine

2.86

1.61

3.0

2.2

2.4

3.3

e6/l

—

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

3.12

1.34

5.4

3.8

—

(3044889) 12 lead EKG panel

150

2.33

1.27

4.6

3.1

—

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

2.94

1.27

1.2

1.5

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

2.62

1.25

3.3

1.6

2.1

2.5

g/l

—

(40768804) Tissue Pathology biopsy report

2.19

1.21

2.9

1.6

—

(3021960) Folate [Moles/volume] in Serum or Plasma

2.36

1.17

1.4

1.5

18.8

18.3

nmol/l

—

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

2.65

1.13

1.6

1.1

—

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

106

2.09

1.10

3.9

3.2

0.0

estimate

—

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

2.30

1.08

2.0

1.5

—

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

107

2.06

1.06

4.4

4.6

0.0

estimate

—

(3026008) Bacteria identified in Urine by Culture

2.18

1.03

3.2

2.8

—

(3022948) Iron [Moles/volume] in Serum or Plasma

2.52

1.00

2.8

1.7

8.7

16.7

umol/l

—

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

2.04

0.97

2.6

2.7

2.3

2.4

mmol/l

0.66

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

102

1.94

0.91

2.9

2.1

76.1

78.2

nmol/l

0.14

(40768797) Stomach Pathology biopsy report

2.16

0.90

1.8

1.2

—

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

2.40

0.80

1.6

1.2

—

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

2.40

0.80

6.2

5.2

—

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

2.03

0.79

1.1

1.5

—

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

1.86

0.78

4.4

3.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.86

0.70

5.5

5.2

—

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

109

1.75

0.69

4.1

3.4

0.0

estimate

—

(40758558) Short blood count panel - Blood

1.73

0.66

6.8

7.4

—

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

1.60

0.51

1.6

—

(3013512) EKG study

1.52

0.49

3.1

3.4

—

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

1.52

0.49

3.6

3.7

—

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

1.58

0.45

1.7

1.9

—

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

191

0.65

0.45

4.1

2.8

57.1

40.0

u/l

0.56

184

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

0.00

0.42

0.0

1.1

—

(3016879) Cocaine [Presence] in Urine

0.00

0.42

0.0

1.5

—

(3035941) MCH [Entitic mass]

283

+∞

0.42

35.3

16.3

30.1

30.2

0.13

277

(3024731) MCV [Entitic volume]

283

+∞

0.42

35.2

16.3

90.1

90.2

0.03

277

(3000963) Hemoglobin [Mass/volume] in Blood

283

+∞

0.42

35.8

16.4

134.7

138.0

g/l

0.53

277

(3027008) Opiates [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

151

1.48

0.38

4.3

4.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.45

0.32

4.3

2.5

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.22

0.0

1.2

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.22

0.0

1.1

—

(40768443) Skin Pathology biopsy report

0.00

0.22

0.0

1.2

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.21

0.0

2.5

—

(3008898) HLA-B27 [Presence]

0.00

0.21

0.0

1.1

—

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

0.00

0.20

0.0

1.9

—

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

1.13

0.10

1.6

2.2

—

(1761868) Lipid panel - Serum or Plasma

0.82

0.08

3.0

2.7

—

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

190

1.16

0.06

2.8

3.3

—

(3013707) Erythrocyte sedimentation rate by Westergren method

175

0.93

0.00

4.3

3.5

13.8

10.5

mm/h

0.48

168

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.3

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.0

1.2

—

(42870588) Differential panel, method unspecified - Blood

0.98

0.00

9.9

5.2

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

37.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.2

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.3

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

10.4

—

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

0.00

0.0

1.0

—

0.0

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

1.3

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

8.9

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

3.2

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

4.4

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.0

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

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

1.05

0.00

2.2

2.3

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.0

1.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.0

1.2

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.7

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.0

—

(4306422)

0.00

0.0

1.2

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.7

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

1.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.2

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.0

1.3

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.9

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.0

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

2.6

—

(3026493) Urate [Moles/volume] in Serum or Plasma

0.89

0.00

9.4

2.6

462.2

323.2

umol/l

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

1.05

0.00

5.6

2.8

7590.4

685.9

ng/l

—

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

1.00

0.00

1.2

1.6

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

2.0

—

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

0.00

0.0

4.1

—

17.4

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

0.9

—

(4268621)

0.00

0.0

1.8

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_VON_HIPPEL – Von Hippel-Lindau syndrome

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

Von Hippel-Lindau syndrome

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 Von Hippel-Lindau syndrome (Q17_VON_HIPPEL)

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