Progressive external ophthalmoplegia

H7_PROGEXTOPHTHALMOPLEGIA

progressive external ophthalmoplegia: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

Suggest a new description

Endpoint definition

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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 — H49.4 Cause of death: ICD-10 — H49.4 2 out of 7 registries used, show all original rules.	24
4. Check minimum number of events None	24
5. Include endpoints None	24
6. Filter based on genotype QC (FinnGen only)	24

Control definitions (FinnGen only)

Control exclude: H7_OCUMUSCLE

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: H49
Name in latin: Ophthalmoplegia externa progressiva

NAME	H7_PROGEXTOPHTHALMOPLEGIA
CONTROL_EXCLUDE	H7_OCUMUSCLE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H494
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	H494
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 Progressive external ophthalmoplegia based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	152	85	66
Only index persons	139	78	61
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	56.29	58.00	54.61
Only index persons	53.45	52.71	54.39

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	24	15	9
Unadjusted period prevalence (%)	0.00	0.01	0.00
Median age at first event (years)	47.59	49.12	45.04

-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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3019060) Gas panel - Arterial blood

6.66

2.33

6.8

4.4

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

6.66

2.33

11.2

13.6

27.2

24.8

mmol/l

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

5.98

2.18

3.2

7.1

1.2

mmol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.86

1.98

9.9

1.4

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

2.92

1.82

7.9

3.4

—

(3032080) INR in Blood by Coagulation assay

2.81

1.60

4.3

6.3

0.9

1.1

inr

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

3.43

1.43

5.2

4.1

—

(40761536) Microorganisms panel - Urine sediment

3.22

1.36

7.6

3.5

—

(3016502) Oxygen saturation in Arterial blood

3.04

1.28

7.0

11.2

98.7

96.7

—

(3013512) EKG study

2.33

1.16

4.3

3.7

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

2.59

1.09

8.4

6.4

—

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

136

2.29

0.90

5.3

3.1

49.6

53.1

u/l

0.11

130

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

2.10

0.88

7.7

3.6

—

(3021601) Nitrite [Presence] in Urine by Test strip

2.01

0.81

8.7

4.8

0.0

estimate

—

(3003396) Base excess in Arterial blood by calculation

2.36

0.80

7.0

9.7

2.6

1.9

mmol/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.89

0.71

3.9

3.4

—

(3026008) Bacteria identified in Urine by Culture

1.88

0.66

4.5

2.5

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.80

0.65

3.3

2.6

49.1

56.7

u/l

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.63

0.0

1.3

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

1.88

0.62

2.7

2.9

13.3

12.2

ng/l

—

(3015736) pH of Urine

1.81

0.59

7.0

3.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

139

1.76

0.56

6.0

4.1

—

(3009261) Glucose [Presence] in Urine by Test strip

1.73

0.54

7.3

3.5

0.0

estimate

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

121

1.64

0.54

2.7

3.6

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

121

1.64

0.54

5.7

3.9

6.5

6.8

mmol/l

0.24

111

(3009542) Hematocrit [Volume Fraction] of Blood

186

0.58

0.51

11.9

12.7

40.2

39.5

—

144

(3044640) Blood type and Crossmatch panel - Blood

1.64

0.50

2.9

2.1

—

(42870588) Differential panel, method unspecified - Blood

1.58

0.46

1.9

3.8

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.65

0.44

2.0

1.2

—

(40768804) Tissue Pathology biopsy report

0.61

0.43

2.7

1.9

—

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

0.00

0.43

0.0

1.7

—

(3044889) 12 lead EKG panel

147

1.53

0.41

4.3

3.1

—

(3031040) Bacteria [#/volume] in Urine by Automated count

133

1.61

0.41

7.2

4.3

—

111.3

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.48

0.38

3.3

2.1

—

(3023368) Bacteria identified in Blood by Culture

1.38

0.34

3.3

3.5

—

(36304419) Bacteria [Presence] in Urine

1.50

0.34

3.1

2.2

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

1.51

0.33

3.4

2.4

—

(3035350) Ketones [Presence] in Urine by Test strip

1.44

0.27

7.8

3.4

0.0

estimate

—

(3026782) Osmolality of Urine

1.40

0.25

2.2

2.7

604.8

532.2

mosm/kgh2o

—

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.0

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.3

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.22

0.0

1.1

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.22

0.0

1.2

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.22

0.0

2.6

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.22

0.0

1.0

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.22

0.0

1.0

—

(3022145) Colonoscopy Study observation

0.00

0.22

0.0

1.6

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.6

—

114.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.35

0.21

8.7

3.5

—

(1761868) Lipid panel - Serum or Plasma

0.71

0.19

5.0

2.9

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

1.12

0.09

5.8

3.5

135.6

23.5

ng/l

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.2

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

12.8

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.5

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

25.2

—

(3022313) Gas panel - Capillary blood

0.00

0.0

1.0

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

0.00

0.0

1.7

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.6

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.0

3.7

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

4.8

—

214.4

—

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

0.00

0.0

2.0

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.0

1.4

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.0

3.8

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

0.00

0.0

5.3

—

25.0

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.0

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.3

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.7

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

2.0

—

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

0.00

0.0

1.9

—

33.6

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.1

—

(3033658) Prothrombin time (PT) actual/Normal

0.91

0.00

1.0

2.9

103.6

85.4

—

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

0.00

0.0

1.0

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

3.9

—

7.1

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

0.91

0.00

1.4

1.6

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.4

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.1

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

0.4

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.6

—

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

0.00

0.0

1.8

—

Mortality – FinRegistry

↥

Association

Association between endpoint H7_PROGEXTOPHTHALMOPLEGIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have H7_PROGEXTOPHTHALMOPLEGIA.

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

↥

Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia

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

Progressive external ophthalmoplegia

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