Wiskott-Aldrich syndrome

D3_WISKOTTALDRICH

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 — D82.0 Cause of death: ICD-10 — D82.0 2 out of 7 registries used, show all original rules.	10
4. Check minimum number of events None	10
5. Include endpoints None	10
6. Filter based on genotype QC (FinnGen only)	10

Control definitions (FinnGen only)

Control exclude: D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D82
Name in latin: Syndroma Wiskott-Aldrich

NAME	D3_WISKOTTALDRICH
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D820
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	D820
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 Wiskott-Aldrich syndrome based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	85	36	49
Only index persons	71	33	38
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	-	56.89	38.62
Only index persons	46.00	56.01	37.31

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	10	-	6
Unadjusted period prevalence (%)	0.00	-	0.00
Median age at first event (years)	38.03	-	31.24

-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)

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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

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(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3013707) Erythrocyte sedimentation rate by Westergren method

+∞

2.32

6.6

4.6

mm/h

12.4

7.7

—

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

0.00

0.93

0.0

1.5

—

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

2.31

0.55

2.0

1.7

ug/l

79.1

61.2

—

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

+∞

0.45

17.5

10.8

mg/l

33.9

22.3

—

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

0.00

0.22

0.0

1.7

—

0.8

—

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

0.00

0.22

0.0

1.7

—

9.2

—

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

+∞

0.22

18.4

13.4

umol/l

85.1

74.5

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

3.2

—

(3019225) pH of Specimen

0.00

0.0

4.4

—

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

0.00

0.0

1.4

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.0

3.0

—

(4035726)

0.00

0.0

1.4

—

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

0.00

0.0

1.5

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.7

—

1.2

—

(3026361) Erythrocytes [#/volume] in Blood

+∞

0.00

28.3

16.5

e12/l

4.5

4.7

—

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

0.00

0.0

2.4

—

(3022621) pH of Urine by Test strip

0.00

0.0

3.0

—

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

0.00

0.0

2.0

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(3044889) 12 lead EKG panel

1.04

0.00

8.2

3.0

—

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

0.00

0.0

9.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.7

—

(40761535) Cells panel - Urine sediment

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

0.0

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

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Association

Association between endpoint D3_WISKOTTALDRICH and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_WISKOTTALDRICH.

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

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Index endpoint: D3_WISKOTTALDRICH – Wiskott-Aldrich syndrome

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Wiskott-Aldrich 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)

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