Congenital ichthyosis

Q17_CONGEN_ICHTHYOSIS

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 — Q80 Cause of death: ICD-10 — Q80 2 out of 7 registries used, show all original rules.	111
4. Check minimum number of events None	111
5. Include endpoints None	111
6. Filter based on genotype QC (FinnGen only)	111

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q8
Name in latin: Ichthyosis congenita

NAME	Q17_CONGEN_ICHTHYOSIS
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	Q80
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q80
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 Congenital ichthyosis 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	1177	430	744
Only index persons	1017	379	638
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.02
Only index persons	0.02	0.01	0.02
Median age at first event (years)
Whole population	19.16	24.30	16.03
Only index persons	20.43	25.76	17.26

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	111	56	55
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	35.28	38.68	31.82

-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

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.

Matched cohort

Matched cases
99: Matched controls
987

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q80.0

ICD-10 Finland

Ichthyosis vulgaris

+∞

42.8

Q80.9

ICD-10 Finland

Congenital ichthyosis, unspecified

+∞

39.2

D02AE01

ATC

carbamide; topical

20.4

29.1

Q80.8

ICD-10 Finland

Other congenital ichthyosis

+∞

26.2

E0000UV

ATC

8.4

20.5

279

Q80.1

ICD-10 Finland

X-linked ichthyosis

+∞

19.4

E000006

ATC

16.1

18.7

Q80.2

ICD-10 Finland

Lamellar ichthyosis

+∞

18.3

E000001

ATC

6.3

15.5

147

75720

ICD-8 Finland

Congenital anomalies of skin, hair and nails, Iethyosis congenita

+∞

12.8

E000003

ATC

12.1

12.6

D02AX

ATC

Other emollients and protectives

20.2

11.7

E000002

ATC

6.0

10.7

D05BB02

ATC

acitretin; oral

19.3

10.2

134

Kela drug reimbursment

General erythroderma

61.1

9.9

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

6.1

8.6

G80.2

ICD-10 Finland

Spastic hemiplegic cerebral palsy

+∞

8.4

Q80.3

ICD-10 Finland

Congenital bullous ichthyosiform erythroderma

+∞

8.4

E000007

ATC

8.4

7.5

D07AB08

ATC

desonide; topical

5.2

7.4

G80.1

ICD-10 Finland

Spastic diplegic cerebral palsy

74.4

6.5

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

3.32

6.18

2.6

1.7

—

(3000494) Fungus identified in Specimen by Culture

2.95

4.68

1.5

1.4

—

(40758558) Short blood count panel - Blood

208

2.44

4.56

8.0

8.8

—

(3042936) Bacteria identified in Isolate by Culture

108

2.70

4.13

2.8

2.1

—

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

375

2.22

4.13

13.0

7.3

1.2

mmol/l

2.14

323

(40768443) Skin Pathology biopsy report

3.96

4.04

1.3

—

(42870588) Differential panel, method unspecified - Blood

289

2.09

3.42

11.5

7.9

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

665

2.19

3.07

4.5

3.6

14.3

14.8

pmol/l

1.06

598

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

6.97

2.90

2.3

1.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

6.97

2.90

2.5

2.0

30.2

32.0

—

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

2.57

2.82

23.1

7.1

10.8

8.0

mmol/l

0.68

(3003458) Phosphate [Moles/volume] in Serum or Plasma

116

2.24

2.70

13.8

6.4

1.2

1.1

mmol/l

0.45

111

(3021440) Promyelocytes/100 leukocytes in Blood

2.54

2.63

8.7

4.7

0.0

0.2

—

(3018095) Leukocytes [#/volume] in Urine

286

1.89

2.61

5.4

3.6

37.9

53.4

e6/l

0.29

197

(3017181) Myelocytes/100 leukocytes in Blood

2.46

2.60

8.2

4.4

0.7

0.9

—

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

164

2.04

2.55

4.1

2.2

5.9

4.1

e6/l

0.61

144

(3013707) Erythrocyte sedimentation rate by Westergren method

655

1.96

2.50

5.6

4.0

12.7

9.7

mm/h

0.92

601

(3025159) Blasts/100 leukocytes in Blood

2.46

2.48

8.7

4.5

0.0

0.4

—

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

2.80

2.45

3.0

1.9

—

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

4.32

2.40

3.4

1.5

—

(3021589) Normoblasts [#/volume] in Blood

394

1.78

2.32

16.5

9.8

0.0

e9/l

0.00

323

(3002179) Metamyelocytes/100 leukocytes in Blood

2.36

2.28

8.5

4.4

0.0

0.5

—

(3002582) Erythrocytes [#/volume] in Urine

246

1.83

2.23

4.5

2.9

17.3

54.1

e6/l

1.10

185

(3002256) Pathology report gross observation

2.27

2.21

1.4

1.1

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.17

2.20

2.1

2.0

—

(3049717) Cytology report of Urine Cyto stain

3.86

2.19

2.3

2.4

—

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

3.37

2.14

2.4

3.9

151.1

162.6

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

805

2.09

2.11

5.5

4.3

24.9

1.9

mu/l

0.51

732

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

5.18

2.09

1.4

1.1

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

5.18

2.09

3.2

1.6

—

(3002032) Base excess in Venous blood by calculation

2.18

2.03

7.4

7.2

1.5

1.7

mmol/l

0.12

(3000991) Gas panel - Venous blood

2.29

2.03

11.6

6.4

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

3.11

1.98

1.4

1.6

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

3.90

1.96

1.2

1.6

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

4.70

1.96

3.2

1.5

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.79

1.91

14.0

8.1

0.6

0.7

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

3.00

1.90

2.9

3.5

93.6

90.0

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

660

1.76

1.90

12.4

7.3

90.2

83.3

u/l

0.46

615

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

118

1.96

1.86

8.7

4.4

0.8

mmol/l

0.65

112

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.71

1.85

14.1

8.0

1.2

1.6

—

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

225

1.74

1.81

2.5

1.5

2.3

g/l

0.07

127

(40768804) Tissue Pathology biopsy report

306

1.66

1.75

2.7

1.8

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

236

1.71

1.74

3.0

2.1

264.0

243.7

u/l

0.07

225

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

271

1.68

1.74

4.5

3.1

—

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

2.18

1.73

6.5

3.3

—

(3023368) Bacteria identified in Blood by Culture

195

1.74

1.69

9.8

4.6

—

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

179

1.75

1.67

3.2

2.7

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

3.69

1.63

3.2

1.6

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

3.69

1.63

3.6

2.1

—

(3044640) Blood type and Crossmatch panel - Blood

249

1.66

1.62

3.1

2.6

—

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

2.70

1.54

1.1

1.0

3.3

1.0

u/ml

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

3.44

1.54

1.2

1.3

—

(3026008) Bacteria identified in Urine by Culture

209

1.67

1.53

3.3

2.8

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

2.56

1.52

1.4

—

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

253

1.63

1.51

1.6

1.4

5.5

1.3

u/ml

—

(4035726)

2.10

1.50

2.8

1.2

—

(3020630) Protein [Mass/volume] in Serum or Plasma

2.16

1.50

4.5

2.2

65.2

66.9

g/l

0.31

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

2.60

1.48

1.1

1.0

3.6

11.4

u/ml

—

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

220

1.64

1.46

5.0

2.9

0.2

e6/l

0.26

158

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

431

1.55

1.45

5.7

3.3

0.0

estimate

0.00

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

375

1.55

1.43

5.1

4.3

—

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

2.70

1.38

1.7

1.4

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

3.03

1.37

1.2

1.3

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

102

944

1.99

1.32

25.4

13.4

88.1

74.5

umol/l

0.81

102

944

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

2.58

1.32

1.5

1.4

—

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

2.14

1.26

10.6

3.6

1.2

mmol/l

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

134

1.70

1.26

7.8

2.9

28.4

64.8

ng/l

0.71

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

110

1.76

1.25

3.0

1.9

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.25

1.24

7.0

4.3

65.8

57.2

—

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

185

1.61

1.24

4.7

3.5

—

(3017732) Neutrophils [#/volume] in Blood

1.98

1.23

3.3

2.3

3.6

4.2

e9/l

0.29

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

2.71

1.23

3.2

2.3

—

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

135

1.69

1.23

2.7

1.0

2.3

e6/l

0.76

(3037467) Urinalysis macro (dipstick) panel - Urine

581

1.50

1.22

6.1

3.8

—

(3018418) pH of Serum or Plasma

221

1.56

1.21

8.2

3.5

7.4

—

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

144

1.66

1.20

2.6

0.7

0.9

e6/l

0.28

(3015736) pH of Urine

330

1.49

1.20

4.9

3.1

—

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

425

1.47

1.19

7.1

4.6

0.0

estimate

0.00

(3032080) INR in Blood by Coagulation assay

285

1.51

1.18

15.3

7.1

1.3

1.2

inr

0.12

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

179

1.59

1.17

2.1

2.0

1.6

1.1

mg/l

0.62

135

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

2.57

1.16

1.6

1.2

—

(3022313) Gas panel - Capillary blood

2.02

1.11

4.0

3.6

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

2.44

1.10

1.0

1.4

16.8

10.8

mg/l

—

(3023511) Choriogonadotropin [Units/volume] in Urine

2.44

1.10

2.4

1.5

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

131

1.64

1.09

2.7

2.5

2.4

mmol/l

0.75

112

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

2.13

1.05

12.1

7.8

—

(3013512) EKG study

219

1.51

1.05

3.3

3.7

—

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

1.80

1.04

2.9

1.8

—

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

1.80

1.04

3.2

1.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

141

0.53

1.02

1.5

1.7

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

2.07

1.02

2.3

1.8

—

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

814

1.56

1.02

18.9

10.3

89.0

89.7

ml/min/173m2

0.07

640

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

0.00

0.96

0.0

1.6

—

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

1.90

0.95

11.8

9.6

24.1

25.8

mmol/l

—

(3019225) pH of Specimen

1.77

0.93

8.7

5.0

—

(36304419) Bacteria [Presence] in Urine

225

1.46

0.91

4.8

2.7

—

(3025941) Bacteria identified in Stool by Culture

1.86

0.91

1.6

1.3

—

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

1.65

0.90

1.5

—

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

423

1.38

0.89

5.3

3.3

0.0

estimate

—

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

282

1.41

0.87

2.1

1.8

97.0

93.0

pmol/l

0.27

137

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

733

0.73

0.85

3.4

—

(3012516) Albumin [Mass/volume] in Urine

187

1.43

0.77

3.9

3.6

91.7

399.1

mg/l

0.44

123

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

765

1.40

0.77

7.0

5.0

39.1

mmol/mol

0.01

714

(3020682) Albumin/Creatinine [Ratio] in Urine

197

1.42

0.75

4.6

4.3

19.9

11.0

mg/mmol

0.21

129

(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

1.80

0.73

1.3

1.7

—

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

1.70

0.71

2.6

2.1

18.8

4.6

ug/l

—

(3020891) Body temperature

1.82

0.67

15.0

5.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

212

1.36

0.64

9.0

5.0

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

159

1.40

0.61

1.6

1.3

15.4

27.2

iu/ml

—

(3019309) Folate [Moles/volume] in Red Blood Cells

126

1.41

0.56

2.6

1.4

889.6

1228.3

nmol/l

1.26

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.49

0.55

1.9

1.3

—

(1761868) Lipid panel - Serum or Plasma

339

0.77

0.54

2.9

2.5

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

1.52

0.53

1.2

1.0

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

155

1.35

0.51

1.5

1.3

20.5

8.2

u/ml

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.59

0.50

5.9

1.9

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

1.52

0.48

1.6

1.3

—

(3000492) Spirometry study

0.58

0.47

1.2

1.4

—

(3008898) HLA-B27 [Presence]

1.46

0.47

1.1

—

(3044889) 12 lead EKG panel

554

1.22

0.44

4.5

3.2

—

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

0.00

0.41

0.0

1.1

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.41

0.0

1.3

—

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

0.00

0.39

0.0

1.2

—

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

0.00

0.39

0.0

1.2

—

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

199

0.77

0.37

3.1

1.7

—

(3019060) Gas panel - Arterial blood

1.49

0.36

9.7

5.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

249

1.22

0.35

4.6

2.7

—

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

0.66

0.34

1.0

1.9

—

(3048689) Calprotectin [Mass/mass] in Stool

147

1.27

0.33

4.4

2.4

330.1

99.9

ug/g

0.73

124

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

130

0.75

0.31

1.3

1.4

—

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

253

1.20

0.30

1.4

1.5

—

(36660697) Celiac disease serology panel - Serum

104

1.28

0.28

1.4

1.2

—

(40761536) Microorganisms panel - Urine sediment

1.27

0.26

8.0

2.8

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

1.20

0.22

1.4

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

4.2

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.21

0.0

1.0

—

(4146454)

0.00

0.21

0.0

3.3

—

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

330

1.13

0.20

5.5

3.3

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.20

0.0

1.0

—

1.4

—

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

0.00

0.20

0.0

3.7

—

67.9

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.19

0.20

1.2

—

(40768797) Stomach Pathology biopsy report

100

1.22

0.19

1.2

—

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

907

1.16

0.17

27.7

12.2

21.0

21.8

mg/l

0.10

664

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

0.82

0.14

1.9

2.1

—

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

0.80

0.14

11.0

6.2

—

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

859

1.12

0.13

5.4

4.4

2.6

2.8

mmol/l

1.65

798

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

1.07

0.09

4.4

3.4

4.8

4.6

pmol/l

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

165

1.11

0.09

3.8

3.9

32.5

23.2

0.50

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

254

1.08

0.09

2.3

2.0

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.87

0.07

1.7

2.1

—

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

158

1.09

0.06

2.7

1.6

—

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

140

1.08

0.04

1.9

1.8

1.4

0.10

127

(40761511) CBC panel - Blood by Automated count

950

1.08

0.04

21.9

10.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

869

0.95

0.03

19.7

13.9

37.5

41.2

2.24

680

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

168

0.94

0.02

1.6

2.3

—

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

227

0.96

0.01

7.0

3.3

0.0

estimate

0.00

(3019832) Treponema pallidum Ab [Presence] in Serum

142

0.98

0.00

1.6

1.9

—

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

222

0.99

0.00

1.5

1.7

—

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

302

0.99

0.00

3.9

3.0

27.3

36.7

ng/l

0.31

182

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

183

0.98

0.00

1.7

2.4

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.4

—

(3032567) Hepatitis B virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

2.8

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

0.00

0.0

1.7

—

1.7

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

2.1

—

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

0.00

0.0

1.3

—

0.9

—

(40761995) Spermatozoa Progressive [#/volume] in Semen

0.00

0.0

3.3

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.4

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.0

1.1

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.0

1.3

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.7

—

(3000963) Hemoglobin [Mass/volume] in Blood

104

1035

1.08

0.00

35.1

17.8

133.1

138.0

g/l

2.37

104

1018

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

0.00

0.0

1.3

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.2

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3006922) Hepatitis E virus Ab [Presence] in Serum

0.00

0.0

1.2

—

(3024731) MCV [Entitic volume]

104

1034

1.09

0.00

34.7

17.7

89.6

90.0

0.37

104

1018

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.7

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3014043) Spermatozoa Nonprogressive/100 spermatozoa in Semen

0.00

0.0

6.5

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.4

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.0

—

108.8

—

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

0.00

0.0

1.1

—

(44816808) CXCL13 Ag [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

3.0

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

26.3

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

0.0

1.5

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.3

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

0.0

9.0

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.0

1.4

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

0.0

3.6

—

(3035941) MCH [Entitic mass]

104

1034

1.09

0.00

34.7

17.6

29.9

30.1

0.79

104

1018

(3036603) Volume of Urine

0.00

0.0

1.1

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

0.0

1.6

—

1.2

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.95

0.00

1.0

1.5

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

(3022145) Colonoscopy Study observation

0.98

0.00

2.1

1.4

—

(42868499) Enterovirus IgG Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

0.0

3.8

—

28.4

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.7

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_ICHTHYOSIS and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_CONGEN_ICHTHYOSIS	2.725 [1.83, 4.05]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.719

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.

Males

Parameter	HR [95% CI]	p-value
Q17_CONGEN_ICHTHYOSIS	2.096 [1.48, 2.97]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.009

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ICHTHYOSIS.

N-year risk	Females	Males
1	0.288%	0.393%
5	1.607%	2.023%
10	3.991%	5.884%
15	8.222%	11.596%
20	14.303%	19.161%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis

GWS hits: 2

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 ichthyosis

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)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints