Pemphigus foliaceus

L12_PEMPHIGUS_FOL

pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.

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 — L10.2 Hospital discharge: ICD-9 — 6944C Cause of death: ICD-10 — L10.2 Cause of death: ICD-9 — 6944C 2 out of 7 registries used, show all original rules.	35
4. Check minimum number of events None	35
5. Include endpoints None	35
6. Filter based on genotype QC (FinnGen only)	35

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L10
Name in latin: Pemphigus foliaceus

NAME	L12_PEMPHIGUS_FOL
CONTROL_EXCLUDE	L12_BULLOUS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L102
HD_ICD_9	6944C
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	L102
COD_ICD_9	6944C
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

↥

List of similar endpoints to Pemphigus foliaceus 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	258	139	118
Only index persons	227	124	103
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	67.69	70.77	64.36
Only index persons	66.28	69.44	62.48

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	35	20	15
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	59.31	58.22	60.76

-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

(42870308) Desmosome IgG Ab [Titer] in Serum by Immunofluorescence

+∞

15.79

1.6

0.0

140.0

—

titre

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

+∞

14.56

1.5

0.0

—

(40768443) Skin Pathology biopsy report

14.69

13.01

1.5

1.2

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

+∞

7.54

1.1

0.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

5.41

5.64

14.2

6.0

—

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

10.01

3.40

1.2

1.1

0.2

g/l

—

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

10.01

3.40

1.2

1.1

1.3

g/l

—

(42870588) Differential panel, method unspecified - Blood

3.38

3.06

15.5

4.7

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

8.08

2.63

1.2

1.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.38

2.33

1.6

1.5

—

(3021589) Normoblasts [#/volume] in Blood

130

2.54

1.86

15.0

10.4

0.0

e9/l

0.00

106

(3004588) Protein electrophoresis panel - Serum or Plasma

3.80

1.83

4.0

1.7

—

(4034850)

4.29

1.78

19.0

14.3

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

2.50

1.65

2.2

2.4

3.1

mg/l

1.48

(40761536) Microorganisms panel - Urine sediment

2.86

1.54

4.6

3.3

—

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

2.32

1.48

2.9

3.7

0.0

estimate

—

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

2.56

1.18

7.0

4.8

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

115

1.93

1.03

3.4

2.7

207.2

108.3

ug/l

1.03

103

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

0.00

1.03

0.0

1.7

—

1.7

—

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

2.11

1.00

1.0

1.4

—

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

2.28

0.94

1.7

2.9

16.3

7.1

ug/l

—

(1761868) Lipid panel - Serum or Plasma

105

0.48

0.92

3.8

3.2

—

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

159

1.80

0.85

3.5

3.3

—

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

0.00

0.83

0.0

1.5

—

(3032080) INR in Blood by Coagulation assay

122

1.77

0.81

15.7

8.9

1.7

1.3

inr

—

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

2.36

0.80

1.0

1.5

—

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

1.82

0.68

4.5

3.0

1085.0

27.2

ng/l

—

(3015736) pH of Urine

119

1.63

0.64

3.5

4.1

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.62

0.0

1.3

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

0.00

0.62

0.0

2.3

—

127.7

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.62

0.0

1.9

—

1.8

—

(3026008) Bacteria identified in Urine by Culture

1.66

0.62

2.0

2.9

—

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

0.00

0.60

0.0

1.3

—

(3042936) Bacteria identified in Isolate by Culture

1.70

0.58

2.3

2.2

—

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

1.65

0.56

1.7

1.4

—

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

151

1.56

0.56

4.2

4.0

0.0

estimate

—

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

151

1.56

0.56

4.2

5.8

0.0

estimate

—

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

1.66

0.54

1.0

1.4

—

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

1.66

0.54

2.6

3.8

—

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

152

1.55

0.53

3.2

5.3

1.2

mmol/l

0.18

126

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

134

1.52

0.50

2.4

1.9

101.0

97.7

pmol/l

—

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

1.65

0.44

1.0

1.5

—

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

137

1.47

0.44

3.8

3.7

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

0.00

0.42

0.0

3.1

—

2.8

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

0.00

0.42

0.0

2.6

—

24.4

—

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

0.00

0.42

0.0

2.6

—

47.3

—

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

1.45

0.40

2.0

1.8

—

(3000494) Fungus identified in Specimen by Culture

1.56

0.38

1.7

1.5

—

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

114

1.38

0.32

3.4

3.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

205

1.36

0.28

4.4

4.5

—

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

155

1.33

0.28

3.9

4.0

0.0

estimate

—

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

136

1.33

0.27

1.9

3.7

31.6

36.0

g/l

1.84

124

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

0.70

0.26

2.9

2.6

32.4

61.1

u/l

—

(40768804) Tissue Pathology biopsy report

117

1.33

0.26

2.4

2.2

—

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

108

1.32

0.25

2.5

3.9

—

(36304419) Bacteria [Presence] in Urine

1.32

0.23

2.7

3.6

—

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

1.30

0.22

2.3

2.0

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.22

0.0

3.3

—

0.0

—

(3009214) Lutropin [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.2

—

9.8

—

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

0.00

0.22

0.0

1.2

—

82.5

—

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

0.00

0.21

0.0

1.2

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

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

1.21

0.21

2.5

2.0

16.2

13.2

umol/l

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

1.25

0.17

3.0

1.8

525.8

475.5

pmol/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.17

0.17

3.6

4.0

—

(3023368) Bacteria identified in Blood by Culture

1.27

0.16

6.5

4.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

255

0.81

0.14

21.8

15.5

39.8

40.4

0.15

179

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

145

1.19

0.12

3.5

4.7

1.2

mmol/l

0.15

131

(3044640) Blood type and Crossmatch panel - Blood

1.18

0.09

2.1

2.2

—

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

110

1.14

0.06

3.8

2.5

258.9

26.3

u/l

0.48

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

181

1.11

0.04

5.6

3.9

6.1

6.5

mmol/l

0.62

171

(3044889) 12 lead EKG panel

221

0.99

0.00

4.8

4.1

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

4.2

—

88.6

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

3.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

3.2

—

1.2

—

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

0.00

0.0

1.2

—

(3013512) EKG study

0.92

0.00

1.9

3.9

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

2.6

—

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

0.00

0.0

1.8

—

13.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.4

—

4.0

—

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

0.00

0.0

3.2

—

6.9

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

4.2

—

1.8

—

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

0.00

0.0

1.8

—

204.6

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.2

—

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

0.00

0.0

2.4

—

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

0.00

0.0

2.4

—

107.6

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.3

—

46.1

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

1.4

—

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

1.02

0.00

1.4

1.6

—

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

0.00

0.0

1.8

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.0

—

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

0.00

0.0

5.9

—

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

0.00

0.0

1.2

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

49.8

—

(40758558) Short blood count panel - Blood

0.94

0.00

10.8

5.6

—

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

1.00

0.00

2.6

2.1

—

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

0.00

0.0

1.2

—

(3024172) Erythropoietin (EPO) [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

8.5

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.9

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.3

—

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

0.00

0.0

1.1

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.0

1.2

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.0

—

0.6

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

391.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3024980) IgG subclass 4 [Mass/volume] in Serum

0.00

0.0

1.8

—

0.6

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.5

—

(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.0

1.7

—

219.9

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

2.2

—

31.5

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.3

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

1.3

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

1.7

—

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

0.00

0.0

1.6

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.9

—

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

0.00

0.0

3.0

—

30.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.1

—

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

0.00

0.0

2.2

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.2

—

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

0.00

0.0

2.2

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_PEMPHIGUS_FOL and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGUS_FOL.

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: L12_PEMPHIGUS_FOL – Pemphigus foliaceus

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

Pemphigus foliaceus

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