Congenital and developmental myasthenia

G6_CONDEVMYA

Myasthenia gravis: Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.

Suggest a new description

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 — G70.20, G70.21, G70.28 Cause of death: ICD-10 — G70.20, G70.21, G70.28 2 out of 7 registries used, show all original rules.	38
4. Check minimum number of events None	38
5. Include endpoints None	38
6. Filter based on genotype QC (FinnGen only)	38

Control definitions (FinnGen only)

Control exclude: G6_MYONEU

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2

NAME	G6_CONDEVMYA
CONTROL_EXCLUDE	G6_MYONEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G702
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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	G702
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Congenital and developmental myasthenia 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	263	153	108
Only index persons	227	138	89
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.01	0.00
Median age at first event (years)
Whole population	58.73	53.60	66.13
Only index persons	59.20	54.54	66.43

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	38	25	13
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	58.50	53.03	69.01

-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

(42870588) Differential panel, method unspecified - Blood

104

5.10

5.59

14.5

5.1

—

(3023368) Bacteria identified in Blood by Culture

4.76

5.28

2.4

4.1

—

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

5.29

5.03

2.7

1.9

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

6.11

4.84

4.8

9.7

2.2

1.9

mmol/l

—

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

5.02

4.49

4.0

2.6

0.3

1.0

e6/l

—

(3022313) Gas panel - Capillary blood

7.46

3.72

5.4

16.5

—

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

11.54

3.63

1.2

2.5

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

6.91

3.55

6.1

15.2

23.4

24.3

mmol/l

—

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

9.88

3.39

1.3

3.1

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

7.50

3.35

1.0

1.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

7.50

3.35

3.9

1.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

210

4.30

3.34

5.7

4.6

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

162

3.77

3.32

6.2

5.8

26.3

11.1

umol/l

0.65

156

(40758558) Short blood count panel - Blood

3.32

3.20

7.3

5.6

—

(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

6.32

3.02

1.6

1.2

—

(3000991) Gas panel - Venous blood

4.79

3.00

6.0

5.6

—

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

4.58

2.89

1.2

1.8

—

(3019060) Gas panel - Arterial blood

4.58

2.89

4.1

5.2

—

(3014007) Fractional oxyhemoglobin in Arterial blood

5.86

2.88

8.6

8.1

95.6

93.6

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

5.45

2.74

2.0

1.9

—

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

189

3.25

2.72

2.5

3.3

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

4.53

2.63

8.9

13.9

4.9

5.0

kpa

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

7.99

2.63

2.0

1.3

—

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

3.05

2.60

4.3

4.0

—

(3052851) Hemolysis interference index of Serum or Plasma

6.98

2.45

3.4

4.1

—

(3018095) Leukocytes [#/volume] in Urine

100

2.80

2.42

4.8

4.3

87.8

67.1

e6/l

0.09

(3042936) Bacteria identified in Isolate by Culture

3.41

2.42

1.9

2.5

—

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

2.89

2.38

1.1

2.2

—

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

5.26

2.37

6.7

7.1

—

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

3.11

2.25

1.1

1.6

—

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

4.87

2.24

3.3

1.3

—

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

236

3.25

2.15

10.8

6.7

72.5

83.2

u/l

0.95

222

(3015736) pH of Urine

123

2.58

2.10

3.6

3.4

—

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

2.73

2.08

1.3

1.8

—

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

3.84

2.08

2.0

1.3

—

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

2.46

1.87

5.0

3.3

—

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

2.46

1.87

2.9

2.3

56.8

54.3

u/l

0.16

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

2.62

1.86

1.6

1.8

—

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

3.75

1.82

4.8

16.1

25.8

24.6

mmol/l

—

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

2.50

1.78

4.1

3.0

0.1

0.3

e6/l

—

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

3.19

1.74

3.9

1.4

—

(36304419) Bacteria [Presence] in Urine

2.45

1.72

4.1

2.7

—

(3012544) pH of Venous blood

3.06

1.67

2.7

8.7

—

(3026008) Bacteria identified in Urine by Culture

2.31

1.61

3.5

3.4

—

(3045414) Leukocytes [Presence] in Urine

3.67

1.57

1.0

1.8

—

(3022621) pH of Urine by Test strip

3.19

1.57

2.5

3.0

—

(40761535) Cells panel - Urine sediment

3.19

1.57

5.0

3.8

—

(3000492) Spirometry study

3.04

1.50

1.7

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

2.16

1.37

1.8

2.0

—

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

2.77

1.36

4.3

1.4

—

(3013512) EKG study

2.11

1.22

3.0

3.5

—

(1761868) Lipid panel - Serum or Plasma

118

0.42

1.21

2.3

2.8

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

2.29

1.09

3.6

5.0

279.3

222.8

u/l

—

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

113

1.91

1.07

2.1

1.7

127.2

100.9

pmol/l

0.74

(3019150) Specific gravity of Urine by Refractometry

2.01

1.04

4.0

4.3

—

1.0

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.82

0.0

1.3

—

(3019225) pH of Specimen

2.24

0.78

6.4

3.7

—

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

1.70

0.72

3.8

4.1

31.7

29.2

u/l

0.28

(3021447) Carbon dioxide [Partial pressure] in Venous blood

1.98

0.71

3.4

8.5

6.3

5.5

kpa

—

(3002032) Base excess in Venous blood by calculation

1.98

0.71

3.4

8.4

4.1

2.4

mmol/l

—

(40768797) Stomach Pathology biopsy report

1.84

0.68

1.4

1.1

—

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

138

1.58

0.61

3.5

4.0

—

(3000494) Fungus identified in Specimen by Culture

1.79

0.60

1.0

1.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.65

0.44

2.0

1.6

—

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

0.00

0.42

0.0

1.3

—

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

1.42

0.42

1.6

—

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

0.00

0.41

0.0

1.7

—

305.2

—

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

1.43

0.36

2.2

2.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.44

0.35

9.7

3.6

—

(40768804) Tissue Pathology biopsy report

114

0.72

0.34

1.7

1.9

—

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

1.22

0.22

10.4

7.4

—

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

1.33

0.22

2.3

—

(40768793) Breast Pathology biopsy report

0.00

0.22

0.0

1.2

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.0

—

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

0.00

0.21

0.0

1.7

—

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

132

1.23

0.16

3.8

4.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.79

0.16

2.3

3.8

—

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

144

1.19

0.13

2.5

53.5

80.9

ug/l

0.90

134

(3009508) Creatinine [Moles/volume] in Urine

0.85

0.07

2.4

3.2

8.1

8.0

mmol/l

—

(3003338) MCHC [Mass/volume]

269

1.01

0.00

34.7

15.8

331.7

331.6

g/l

0.02

269

(3009542) Hematocrit [Volume Fraction] of Blood

273

0.96

0.00

26.9

13.3

39.9

39.4

0.21

216

(3044889) 12 lead EKG panel

213

0.97

0.00

3.3

3.6

—

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

0.00

0.0

2.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

3.0

—

111.0

—

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

0.00

0.0

2.3

—

17.8

—

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

0.00

0.0

4.7

—

1.6

—

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

0.00

0.0

3.0

—

3.8

—

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

0.00

0.0

1.3

—

2.2

—

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

0.00

0.0

3.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.3

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

18.2

—

1.4

—

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

0.97

0.00

1.4

1.7

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

3.2

—

32.0

—

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

0.00

0.0

7.0

—

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

0.00

0.0

9.4

—

6.3

—

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

0.00

0.0

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.05

0.00

1.6

1.7

—

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

0.00

0.0

1.6

—

0.7

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

2.4

—

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

0.00

0.0

9.6

—

1.2

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

2.4

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.9

—

Mortality – FinRegistry

↥

Association

Association between endpoint G6_CONDEVMYA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have G6_CONDEVMYA.

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: G6_CONDEVMYA – Congenital and developmental myasthenia

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

Congenital and developmental myasthenia

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