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Osteomalacia

DOID EFO Endpoint Browser PheWeb

M13_OSTEOMALACIA

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 — M83
  • Hospital discharge: ICD-9 — 2682A
  • Hospital discharge: ICD-8 — 2652
  • Cause of death: ICD-10 — M83
  • Cause of death: ICD-9 — 2682A
  • Cause of death: ICD-8 — 2652

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

283

4. Check minimum number of events

None

283

5. Include endpoints

None

283

6. Filter based on genotype QC (FinnGen only)

275

Control definitions (FinnGen only)

Control exclude M13_OSTEOCHONDRO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M80-M85
Name in latin Osteomalacia adultorum

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 2358 1342 1003
Only index persons 2066 1151 915
Unadjusted period prevalence (%)
Whole population 0.03 0.04 0.03
Only index persons 0.04 0.04 0.03
Median age at first event (years)
Whole population 45.50 47.04 43.34
Only index persons 43.40 44.63 41.87

-FinnGen-

Key figures

All Female Male
Number of individuals 275 183 92
Unadjusted period prevalence (%) 0.06 0.07 0.05
Median age at first event (years) 46.34 47.28 44.48

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint M13_OSTEOMALACIA and mortality.

Females

Parameter HR [95% CI] p-value
M13_OSTEOMALACIA 1.361 [1.13, 1.63] 0.001
Birth year 0.999 [0.99, 1.01] 0.78

During the follow-up period (1.1.1998 — 31.12.2019), 159 out of 1044 females with M13_OSTEOMALACIA died.

Males

Parameter HR [95% CI] p-value
M13_OSTEOMALACIA 1.341 [1.1, 1.63] 0.003
Birth year 0.983 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 112 out of 827 males with M13_OSTEOMALACIA died.

Mortality risk

Mortality risk for people of age

years, who have M13_OSTEOMALACIA.

N-year risk Females Males
1 0.08% 0.194%
5 0.877% 1.441%
10 2.346% 3.536%
15 4.516% 6.561%
20 7.848% 11.19%

Relationships between endpoints

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Index endpoint: M13_OSTEOMALACIA – Osteomalacia

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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