Noonan syndrome

Q17_NOONAN

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 — Q87.14 Cause of death: ICD-10 — Q87.14 2 out of 7 registries used, show all original rules.	40
4. Check minimum number of events None	40
5. Include endpoints None	40
6. Filter based on genotype QC (FinnGen only)	40

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze: DF12

NAME	Q17_NOONAN
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	Q8714
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q8714
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 Noonan 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	40	21	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	14.65	24.89	3.35

-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

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

12.73

12.35

3.6

10.3

125.9

147.9

0.86

(3018677) aPTT in Platelet poor plasma by Coagulation assay

8.67

10.87

3.3

13.4

31.7

31.6

0.03

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

10.23

9.99

3.7

14.9

2.6

3.1

g/l

0.81

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

7.75

7.90

4.9

19.4

89.9

91.5

0.12

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

13.74

4.46

2.1

5.5

94.7

91.3

—

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

3.86

4.09

3.4

3.6

—

(40758558) Short blood count panel - Blood

106

3.75

4.06

7.1

11.0

—

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

125

3.67

3.84

3.4

4.6

—

(3044640) Blood type and Crossmatch panel - Blood

3.60

3.80

3.8

3.5

—

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

4.22

3.49

3.0

9.8

198.3

408.7

u/l

0.61

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

3.50

3.39

3.4

6.1

0.7

1.9

mg/l

—

(3002256) Pathology report gross observation

5.27

2.97

1.3

—

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

210

3.11

2.60

18.5

7.1

113.0

99.5

ml/min/173m2

2.40

167

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

6.16

2.28

1.6

1.3

—

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

100

2.45

1.95

2.9

4.1

—

(42870588) Differential panel, method unspecified - Blood

137

2.35

1.82

8.0

11.2

—

(3022096) Basophils/100 leukocytes in Blood

186

2.39

1.75

10.4

9.7

0.6

0.7

0.21

176

(3002030) Lymphocytes/100 leukocytes in Blood

198

2.38

1.68

10.3

9.3

24.4

34.8

5.01

188

(3006504) Eosinophils/100 leukocytes in Blood

190

2.30

1.61

10.4

9.4

2.9

3.1

0.21

176

(3042936) Bacteria identified in Isolate by Culture

2.76

1.58

3.3

2.0

—

(3019069) Monocytes/100 leukocytes in Blood

192

2.25

1.54

10.5

9.8

11.0

8.2

6.08

182

(3044889) 12 lead EKG panel

163

2.18

1.53

4.3

2.3

—

(3018010) Neutrophils/100 leukocytes in Blood

194

2.21

1.47

10.5

9.1

59.6

51.3

3.17

184

(3013512) EKG study

2.47

1.45

5.0

3.4

—

(3018095) Leukocytes [#/volume] in Urine

104

2.10

1.39

4.2

4.4

9.8

7.1

e6/l

—

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

2.68

1.39

2.4

10.5

105.8

105.1

mmol/l

—

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

2.31

1.24

10.0

13.6

4.2

5.3

mmol/l

—

(3002582) Erythrocytes [#/volume] in Urine

2.04

1.23

3.9

3.6

31.3

13.9

e6/l

—

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

0.00

1.23

0.0

1.6

—

(3026008) Bacteria identified in Urine by Culture

2.13

1.21

4.3

2.3

—

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

2.71

1.19

1.2

1.4

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

2.28

1.15

3.0

7.4

5.8

5.9

umol/l

—

(36304419) Bacteria [Presence] in Urine

2.00

1.13

2.6

3.7

—

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

209

1.90

1.03

10.4

6.5

78.9

106.3

u/l

1.86

199

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

105

1.87

1.02

1.3

1.6

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

2.25

0.94

2.0

3.5

0.2

g/l

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

2.10

0.88

2.0

2.3

28.2

27.9

u/l

—

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

0.00

0.82

0.0

2.6

—

(3026782) Osmolality of Urine

1.74

0.78

4.9

2.9

568.7

574.4

mosm/kgh2o

—

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

1.71

0.76

5.2

11.0

6.1

5.8

kpa

—

(3022313) Gas panel - Capillary blood

1.67

0.64

29.9

9.2

—

(3010813) Leukocytes [#/volume] in Blood

380

+∞

0.62

35.1

17.8

6.5

6.9

e9/l

0.44

369

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

0.00

0.62

0.0

1.5

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.60

0.62

5.8

11.6

5.7

5.4

kpa

—

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

0.00

0.62

0.0

1.8

—

(3007461) Platelets [#/volume] in Blood

379

+∞

0.62

35.4

17.8

244.6

269.3

e9/l

0.84

369

(3026361) Erythrocytes [#/volume] in Blood

379

+∞

0.62

35.2

17.7

4.9

4.6

e12/l

3.04

369

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

0.00

0.61

0.0

1.0

—

3.4

—

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

0.00

0.61

0.0

1.0

—

6.8

—

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

0.00

0.61

0.0

1.4

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.60

0.0

1.1

—

1.5

—

(3000991) Gas panel - Venous blood

1.64

0.60

3.4

8.8

—

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

1.58

0.58

4.3

2.7

2.2

4.7

e6/l

—

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

1.52

0.56

20.8

14.0

24.2

24.6

mmol/l

—

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

336

0.66

0.56

4.4

4.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.59

0.54

3.2

2.1

—

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

1.50

0.46

23.4

8.9

23.9

24.2

mmol/l

—

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

0.00

0.42

0.0

1.3

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.42

0.0

1.3

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.42

0.0

1.3

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

1.54

0.42

2.2

2.3

4.3

12.0

iu/l

—

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

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.4

—

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

0.00

0.42

0.0

1.2

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

0.00

0.42

0.0

4.3

—

3.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.42

0.0

1.4

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.42

0.0

4.4

—

268.7

—

(40768804) Tissue Pathology biopsy report

1.43

0.37

1.7

1.8

—

(36660697) Celiac disease serology panel - Serum

1.39

0.33

1.4

1.2

—

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

135

0.74

0.27

1.6

2.0

—

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

1.25

0.23

2.6

1.5

—

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

1.22

0.22

2.6

1.6

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

6.4

—

(3022621) pH of Urine by Test strip

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

2.3

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

1.3

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.4

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.21

0.0

1.7

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.1

—

0.6

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.21

0.0

1.5

—

1.4

—

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

0.00

0.21

0.0

1.4

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.20

0.0

2.4

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.20

0.0

5.4

—

(3023368) Bacteria identified in Blood by Culture

1.25

0.19

6.7

4.8

—

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

1.20

0.18

2.1

3.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.81

0.16

2.9

1.8

—

(3015736) pH of Urine

113

0.85

0.10

7.6

2.9

—

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

1.08

0.09

2.3

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.08

0.08

8.3

2.1

—

(3009508) Creatinine [Moles/volume] in Urine

0.82

0.08

2.3

3.3

9.5

7.9

mmol/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

204

1.06

0.01

5.7

3.8

—

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

101

0.99

0.00

7.1

2.9

—

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

126

1.05

0.00

1.6

1.8

1.2

1.7

g/l

—

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

0.00

0.0

1.8

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.4

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

11.2

—

983.8

—

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

0.00

0.0

1.8

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

7.6

—

(4094501)

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

28.9

—

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

0.00

0.0

3.2

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

13.8

—

1819.2

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

280.0

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

0.0

1.2

—

62.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

2.0

—

91.1

—

(3018738) Hemoglobin F/Hemoglobin.total in Blood

0.00

0.0

2.4

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

0.0

1.6

—

(40761872) Peanut recombinant (rAra h) 2 IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

0.3

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.4

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

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

0.00

0.0

3.8

—

13.5

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

1255.2

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

6.4

—

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

0.00

0.0

1.3

—

41.4

—

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

0.00

0.0

1.1

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.7

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.3

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

(3026285) Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.1

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.3

—

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

0.00

0.0

1.9

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

142.9

—

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

0.00

0.0

1.6

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

2.9

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.8

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3019150) Specific gravity of Urine by Refractometry

0.91

0.00

4.2

3.0

—

1.0

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.3

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.5

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3019060) Gas panel - Arterial blood

0.00

0.0

4.3

—

(3013336) Amino acids [Identifier] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(1761868) Lipid panel - Serum or Plasma

0.89

0.00

2.3

2.2

—

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

0.00

0.0

1.0

—

(44813793)

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.0

6.0

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.99

0.00

6.2

4.3

—

(3011648) Oxygen content in Venous blood

0.00

0.0

33.2

—

12.5

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_NOONAN – Noonan 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

Noonan 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 Noonan syndrome (Q17_NOONAN)

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