Pseudohypoparathyroidism

E4_PSEUDOHYPOPARATHYROIDISM

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — E20.1 Cause of death: ICD-10 — E20.1 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)	32

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

NAME	E4_PSEUDOHYPOPARATHYROIDISM
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E201
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E201
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 Pseudohypoparathyroidism 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:

No upset plot: unknown.

No upset table: unknown.

Summary Statistics

↥

-FinRegistry-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	32	19	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	25.19	11.99	44.48

-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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3018418) pH of Serum or Plasma

17.52

12.86

12.7

4.8

7.38

7.40

—

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

104

7.94

7.27

16.0

9.6

1.18

1.22

mmol/l

1.85

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

4.24

4.22

4.2

2.9

2.32

2.36

mmol/l

0.67

(3018133) Calcium [Moles/volume] in Urine

14.05

3.91

7.3

3.4

1.97

2.04

mmol/l

—

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

4.67

3.56

3.7

9.3

0.83

0.81

mmol/l

0.31

(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma

8.08

2.63

1.2

1.1

2.63

5.89

ug/l

—

(3013290) Carbon dioxide [Partial pressure] in Blood

8.08

2.63

4.0

8.1

5.90

5.03

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

8.08

2.63

4.0

8.1

8.08

8.57

kpa

—

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

3.82

2.62

7.4

11.5

27.05

25.68

mmol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.74

1.40

1.5

1.6

—

(4200892) Spirometry reversibility

3.06

1.33

1.2

1.7

—

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

0.00

1.23

0.0

1.7

—

(3042936) Bacteria identified in Isolate by Culture

0.00

1.03

0.0

2.2

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

2.37

0.97

7.7

7.0

24.33

24.51

mmol/l

—

(3044889) 12 lead EKG panel

150

1.78

0.83

2.8

3.3

—

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

263

0.56

0.77

4.0

3.9

—

(1761868) Lipid panel - Serum or Plasma

1.71

0.71

2.5

2.2

—

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

0.50

0.67

2.8

1.8

—

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

0.49

0.67

1.0

1.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

193

0.61

0.65

2.7

4.5

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.62

0.0

1.5

—

(3019225) pH of Specimen

0.00

0.62

0.0

6.5

—

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

0.00

0.61

0.0

1.4

—

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

0.00

0.60

0.0

1.4

—

(3000991) Gas panel - Venous blood

1.65

0.56

7.8

8.1

—

(3044640) Blood type and Crossmatch panel - Blood

0.53

0.54

1.0

2.5

—

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

119

0.67

0.45

1.3

2.7

—

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

0.00

0.42

0.0

1.5

—

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

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.50

0.40

2.5

3.4

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.45

0.40

9.0

8.3

3.90

5.50

kpa

—

(3012544) pH of Venous blood

1.56

0.38

7.7

—

(3002032) Base excess in Venous blood by calculation

1.56

0.38

7.7

7.6

1.55

2.00

mmol/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

140

1.42

0.38

3.9

9.6

—

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

1.42

0.34

3.3

3.6

26.58

28.44

u/l

0.20

(3015736) pH of Urine

127

0.70

0.33

2.7

3.5

—

5.79

—

(3013707) Erythrocyte sedimentation rate by Westergren method

204

0.76

0.26

3.2

4.5

8.67

8.86

mm/h

0.04

189

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

109

1.31

0.23

2.7

4.0

—

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

0.00

0.22

0.0

1.5

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.22

0.0

1.7

—

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

0.00

0.22

0.0

6.5

—

178.55

—

(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.3

—

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

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

1.7

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.22

0.0

2.4

—

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

0.00

0.22

0.0

1.9

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(4035726) Immunohistochemistry procedure

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

7.4

—

60.32

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

0.00

0.21

0.0

4.7

—

24.07

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

301

0.79

0.21

5.9

8.9

24.07

23.16

u/l

0.16

293

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.21

0.0

9.5

—

0.81

—

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

0.00

0.21

0.0

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.21

0.0

9.5

—

1.05

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.20

0.0

1.1

—

(3019150) Specific gravity of Urine by Refractometry

1.18

0.19

3.0

4.2

—

1.01

—

(3026008) Bacteria identified in Urine by Culture

1.25

0.17

1.4

3.2

—

(36304419) Bacteria [Presence] in Urine

0.79

0.17

1.6

3.2

—

(40768804) Tissue Pathology biopsy report

0.81

0.16

2.3

1.9

—

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

1.09

0.09

1.5

2.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.77

0.09

1.6

—

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

1.18

0.09

2.0

1.7

—

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

1.18

0.09

2.2

3.9

—

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

1.14

0.09

1.3

1.8

1.16

1.20

mmol/l

—

(40758558) Short blood count panel - Blood

0.87

0.08

1.5

4.4

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.09

0.01

29.1

9.6

1.56

1.21

inr

—

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

155

0.94

0.00

2.5

5.8

6.97

6.41

mmol/l

0.21

143

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

195

1.06

0.00

2.1

3.7

21.65

35.48

u/l

1.58

190

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

0.00

0.0

2.2

—

16.40

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

3.8

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

109.60

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

4.6

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.0

4.0

—

10.62

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.0

1.8

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

2.2

—

(3019230) Fractional oxyhemoglobin in Venous blood

0.00

0.0

13.0

—

82.54

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.6

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

5.2

—

1.60

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

1.43

—

(3021901) Oxygen saturation in Capillary blood

0.00

-0.00

0.0

3.8

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

71.00

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

-0.00

0.0

2.9

—

23.86

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3029634) Reagin Ab [Titer] in Serum by VDRL

0.00

-0.00

0.0

2.3

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

1.6

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.0

—

2.89

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

-0.00

0.0

1.7

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.9

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

7.54

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.0

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

-0.00

0.0

4.7

—

53.75

—

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

0.00

-0.00

0.0

4.7

—

3.15

—

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

0.00

-0.00

0.0

1.0

—

7.46

—

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

0.00

-0.00

0.0

2.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

-0.00

0.0

1.4

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3009466) Valproate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.9

—

376.00

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

3.3

—

2.32

—

(3023368) Bacteria identified in Blood by Culture

0.96

-0.00

1.8

3.6

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

(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

0.00

-0.00

0.0

1.1

—

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

140

1.00

-0.00

4.9

3.0

65.75

63.04

ug/l

0.05

123

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

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

0.00

-0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.5

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.1

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

-0.00

0.0

2.8

—

9.87

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

3.00

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

8.9

—

2.85

—

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

0.00

-0.00

0.0

2.1

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.0

—

39.25

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

-0.00

0.0

2.8

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

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

0.00

-0.00

0.0

1.0

—

(4034850) Laboratory test

0.00

-0.00

0.0

13.7

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: E4_PSEUDOHYPOPARATHYROIDISM – Pseudohypoparathyroidism

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

Pseudohypoparathyroidism

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

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