GM2 gangliosidosis

E4_GM2GANGLIO

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 — E75.0 Cause of death: ICD-10 — E75.0 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: 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: Gangliosidosis GM2

NAME	E4_GM2GANGLIO
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	E750
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	E750
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 GM2 gangliosidosis 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	97	54	43
Only index persons	79	44	35
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	-	58.29	50.07
Only index persons	54.97	58.87	50.07

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	10	7	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	62.85	62.23	-

-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

(3044889) 12 lead EKG panel

+∞

1.84

5.9

3.8

—

(3023368) Bacteria identified in Blood by Culture

3.94

1.34

5.0

3.6

—

(3003338) MCHC [Mass/volume]

+∞

1.23

29.7

18.8

g/l

326.6

329.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.00

0.69

0.0

3.2

—

(3015736) pH of Urine

1.62

0.29

7.2

3.0

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

1.56

0.29

12.6

4.1

mmol/l

1.2

—

(3042936) Bacteria identified in Isolate by Culture

0.00

0.23

0.0

1.5

—

(3025159) Blasts/100 leukocytes in Blood

0.00

0.23

0.0

2.3

—

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

0.00

0.23

0.0

3.0

—

16.5

—

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

0.00

0.23

0.0

5.4

—

211.1

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.22

0.0

5.1

—

32.9

—

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

0.00

0.0

1.0

—

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

+∞

0.00

27.9

13.9

umol/l

84.1

74.4

—

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

0.00

0.0

1.2

—

59.0

—

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

0.00

0.0

1.4

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

0.00

0.0

4.2

—

2.0

—

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

0.00

0.0

1.2

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.00

0.0

1.4

—

(3002179) Metamyelocytes/100 leukocytes in Blood

0.00

0.0

1.8

—

(3019225) pH of Specimen

0.00

0.0

3.9

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

1.2

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.0

6.1

—

(3017181) Myelocytes/100 leukocytes in Blood

0.00

0.0

2.4

—

(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

1.0

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.0

1.3

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

0.89

0.00

21.2

9.1

e9/l

5.5

4.2

—

(3021440) Promyelocytes/100 leukocytes in Blood

0.00

0.0

2.4

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

4.0

—

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

0.00

0.0

3.0

—

1.9

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

0.92

0.00

2.4

2.9

u/l

31.4

53.3

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

25.7

—

(3000492) Spirometry study

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.0

—

15.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_GM2GANGLIO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_GM2GANGLIO.

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_GM2GANGLIO – GM2 gangliosidosis

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

GM2 gangliosidosis

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