Neuronal ceroid lipofuscinosis

E4_NEUROCER

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 — E75.4 Cause of death: ICD-10 — E75.4 2 out of 7 registries used, show all original rules.	6
4. Check minimum number of events None	6
5. Include endpoints None	6
6. Filter based on genotype QC (FinnGen only)	6

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E75
Name in latin: Lipofuscinosis neuronalis ceroides

NAME	E4_NEUROCER
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E754
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	E754
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 Neuronal ceroid lipofuscinosis 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:

Not enough data for upset plot.

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	301	157	144
Only index persons	154	77	77
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	-	8.11	7.84
Only index persons	7.67	7.91	7.43

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	6	-	-
Unadjusted period prevalence (%)	0.00	-	-
Median age at first event (years)	27.11	-	-

-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

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

0.00

0.49

0.0

1.2

—

2.2

—

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

0.00

0.24

0.0

1.3

—

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

0.00

0.24

0.0

1.5

—

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

0.00

0.23

0.0

2.5

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

0.00

0.23

0.0

2.9

—

19.0

—

(36660697) Celiac disease serology panel - Serum

0.00

0.23

0.0

1.0

—

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

0.00

0.23

0.0

3.2

—

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

0.00

0.23

0.0

3.2

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.8

—

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

0.00

0.0

10.2

—

25.8

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

3.3

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.8

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.8

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.8

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.8

—

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

0.00

0.0

6.0

—

26.2

—

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

0.00

0.0

4.9

—

2.3

—

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

0.00

0.0

10.8

—

92.6

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

(3000494) Fungus identified in Specimen by Culture

0.00

0.0

2.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

(3000991) Gas panel - Venous blood

0.00

0.0

52.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.00

0.0

2.0

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

2.0

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

0.00

0.0

2.8

—

330.2

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

2.0

—

Mortality – FinRegistry

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Association

Association between endpoint E4_NEUROCER and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_NEUROCER.

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: E4_NEUROCER – Neuronal ceroid lipofuscinosis

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

Neuronal ceroid lipofuscinosis

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