Adenosine deaminase [ADA] deficiency

D3_ADA_DEF

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 — D81.3 Cause of death: ICD-10 — D81.3 2 out of 7 registries used, show all original rules.	11
4. Check minimum number of events None	11
5. Include endpoints None	11
6. Filter based on genotype QC (FinnGen only)	11

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: D81
Name in latin: Deficientia adenosindeaminasae

NAME	D3_ADA_DEF
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	D813
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	D813
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

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List of similar endpoints to Adenosine deaminase [ADA] deficiency 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	134	75	56
Only index persons	97	57	40
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	64.65	63.84	65.37
Only index persons	60.42	58.15	63.65

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	11	-	7
Unadjusted period prevalence (%)	0.00	-	0.00
Median age at first event (years)	64.30	-	69.62

-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

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

3.64

1.17

32.3

2.7

—

(40758558) Short blood count panel - Blood

0.00

0.67

0.0

5.0

—

(40768804) Tissue Pathology biopsy report

1.85

0.48

1.4

2.3

—

(3044889) 12 lead EKG panel

1.86

0.46

4.7

4.1

—

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

0.00

0.22

0.0

1.3

—

1.3

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

0.00

0.22

0.0

1.2

—

1.1

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.2

—

77.5

—

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

0.83

0.12

12.3

14.8

ml/min/173m2

78.5

77.4

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

3.6

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

3.2

—

(3048689) Calprotectin [Mass/mass] in Stool

0.00

0.0

1.6

—

492.9

—

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

0.00

0.0

1.8

—

(3014007) Fractional oxyhemoglobin in Arterial blood

0.00

0.0

12.0

—

94.6

—

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

0.00

0.0

5.3

—

11.7

—

(3000492) Spirometry study

0.00

0.0

1.3

—

(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

0.0

1.8

—

(3002385) Erythrocyte distribution width [Ratio]

1.20

0.00

38.5

17.0

13.8

—

(3000991) Gas panel - Venous blood

0.00

0.0

5.7

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.0

1.3

—

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

0.00

0.0

2.1

—

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

0.00

0.0

2.4

—

46.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.4

—

4.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.08

-0.00

5.8

5.7

—

Mortality – FinRegistry

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Association

Association between endpoint D3_ADA_DEF and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_ADA_DEF.

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_ADA_DEF – Adenosine deaminase [ADA] deficiency

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

Adenosine deaminase [ADA] deficiency

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