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Muscle wasting and atrophy, not elsewhere classified

DOID EFO Endpoint Browser PheWeb

M13_MUSCLEATROPH

muscular disease: Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.

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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 — M62.5
  • Hospital discharge: ICD-9 — 7282A
  • Hospital discharge: ICD-8 — 7331
  • Cause of death: ICD-10 — M62.5
  • Cause of death: ICD-9 — 7282A
  • Cause of death: ICD-8 — 7331

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

194

4. Check minimum number of events

None

194

5. Include endpoints

None

194

6. Filter based on genotype QC (FinnGen only)

189

Control definitions (FinnGen only)

Control exclude M13_SOFTTISSUE

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M62
Name in latin Atrophia et degeneratio musculi non alibi classificatae

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 1539 650 867
Only index persons 1277 562 715
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.03
Median age at first event (years)
Whole population 58.20 59.33 57.32
Only index persons 57.86 58.68 57.22

-FinnGen-

Key figures

All Female Male
Number of individuals 189 88 101
Unadjusted period prevalence (%) 0.04 0.03 0.05
Median age at first event (years) 57.51 54.14 60.44

-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_MUSCLEATROPH and mortality.

Females

Parameter HR [95% CI] p-value
M13_MUSCLEATROPH 2.0 [1.43, 2.8] < 0.001
Birth year 0.994 [0.99, 1.0] 0.168

During the follow-up period (1.1.1998 — 31.12.2019), 100 out of 431 females with M13_MUSCLEATROPH died.

Males

Parameter HR [95% CI] p-value
M13_MUSCLEATROPH 2.175 [1.62, 2.92] < 0.001
Birth year 0.988 [0.98, 1.0] 0.012

During the follow-up period (1.1.1998 — 31.12.2019), 165 out of 582 males with M13_MUSCLEATROPH died.

Mortality risk

Mortality risk for people of age

years, who have M13_MUSCLEATROPH.

N-year risk Females Males
1 0.222% 0.409%
5 1.237% 2.655%
10 3.025% 6.217%
15 5.429% 11.554%
20 9.286% 19.826%

Relationships between endpoints

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Index endpoint: M13_MUSCLEATROPH – Muscle wasting and atrophy, not elsewhere classified

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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