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Sphingolipidosis, other/unspecified

DOID Endpoint Browser PheWeb

E4_SPHIGLOLIPNAS

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E75.2, E75.2+N08.4, E75.3
  • Hospital discharge: ICD-9 — 3300
  • Hospital discharge: ICD-8 — 2728[1-2]
  • Cause of death: ICD-10 — E75.2, E75.2+N08.4, E75.3
  • Cause of death: ICD-9 — 3300
  • Cause of death: ICD-8 — 2728[1-2]

2 out of 7 registries used, show all original rules.

64

4. Check minimum number of events

None

64

5. Include endpoints

None

64

6. Filter based on genotype QC (FinnGen only)

59

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 476 287 184
Only index persons 327 216 111
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 41.58 47.56 31.35
Only index persons 45.49 49.01 38.63

-FinnGen-

Key figures

All Female Male
Number of individuals 59 43 16
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 48.12 51.01 40.34

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint E4_SPHIGLOLIPNAS and mortality.

Females

Parameter HR [95% CI] p-value
E4_SPHIGLOLIPNAS 5.459 [3.63, 8.21] < 0.001
Birth year 1.0 [0.99, 1.01] 0.986

During the follow-up period (1.1.1998 — 31.12.2019), 71 out of 223 females with E4_SPHIGLOLIPNAS died.

Males

Parameter HR [95% CI] p-value
E4_SPHIGLOLIPNAS 4.047 [1.83, 8.95] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 131 males with E4_SPHIGLOLIPNAS died.

Mortality risk

Mortality risk for people of age

years, who have E4_SPHIGLOLIPNAS.

N-year risk Females Males
1 0.438% 0.962%
5 3.329% 5.057%
10 8.296% 11.363%
15 14.825% 20.407%
20 27.15% 32.458%

Relationships between endpoints

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Index endpoint: E4_SPHIGLOLIPNAS – Sphingolipidosis, other/unspecified

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
FinnGen
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