Kaschin-Beck disease

M13_KASHINBECK

skin disease: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.

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 — M12.1 Cause of death: ICD-10 — M12.1 2 out of 7 registries used, show all original rules.	30
4. Check minimum number of events None	30
5. Include endpoints None	30
6. Filter based on genotype QC (FinnGen only)	30

Control definitions (FinnGen only)

Control exclude: M13_ARTHROPATHIES

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: M12
Name in latin: Morbus Kashin-Beck

NAME	M13_KASHINBECK
CONTROL_EXCLUDE	M13_ARTHROPATHIES
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M121
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	M121
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 Kaschin-Beck disease 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:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	287	187	100
Only index persons	269	177	92
Unadjusted period prevalence (%)
Whole population	0.00	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	-	63.85	58.81
Only index persons	61.33	62.76	58.59

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	30	19	11
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	61.10	57.60	67.16

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768804) Tissue Pathology biopsy report

3.73

2.98

2.6

2.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

6.40

2.30

1.4

1.2

—

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

3.81

2.20

2.5

1.5

—

(3000330) Specific gravity of Urine by Test strip

5.21

2.02

5.6

2.7

—

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

2.54

1.64

3.6

3.8

—

(3023368) Bacteria identified in Blood by Culture

2.46

1.43

2.3

3.6

—

(3026782) Osmolality of Urine

2.33

1.18

2.5

2.4

543.9

535.2

mosm/kgh2o

—

(3002256) Pathology report gross observation

2.54

1.17

1.7

1.3

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

2.14

1.09

3.3

3.6

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

2.18

1.08

1.7

1.6

1.4

mmol/l

0.27

(3015736) pH of Urine

2.07

1.06

4.1

3.1

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

100

2.00

0.98

1.7

2.2

101.1

95.6

pmol/l

—

(40758558) Short blood count panel - Blood

2.13

0.98

12.4

6.1

—

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

2.06

0.94

2.3

2.5

—

(40768797) Stomach Pathology biopsy report

2.02

0.84

1.7

1.1

—

(3019060) Gas panel - Arterial blood

0.00

0.83

0.0

2.9

—

(3018095) Leukocytes [#/volume] in Urine

1.76

0.68

4.2

3.5

7.1

125.8

e6/l

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.00

0.62

0.0

2.0

—

(3044640) Blood type and Crossmatch panel - Blood

1.74

0.59

2.7

2.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

157

1.57

0.47

4.5

4.2

—

(3044889) 12 lead EKG panel

168

1.57

0.45

4.5

3.9

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

100

1.53

0.43

5.5

4.7

37.7

36.0

g/l

0.75

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

0.00

0.41

0.0

5.2

—

5.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

213

1.63

0.40

24.0

14.1

37.8

39.8

0.38

133

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

1.33

0.29

3.8

2.3

121.3

118.4

u/l

—

(36304419) Bacteria [Presence] in Urine

1.33

0.29

4.0

2.7

—

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

1.37

0.25

3.4

3.0

—

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

1.30

0.24

4.2

3.5

10.4

49.8

ng/l

—

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

0.00

0.22

0.0

6.7

—

24.1

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.22

0.0

1.5

—

3.9

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.22

0.0

1.5

—

1.0

—

(40768793) Breast Pathology biopsy report

0.00

0.22

0.0

1.2

—

(3022313) Gas panel - Capillary blood

0.00

0.21

0.0

4.8

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.21

0.0

1.2

—

(3000850) Epithelial cells [#/volume] in Urine

1.30

0.20

2.0

2.3

5.7

3.8

e6/l

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

233

1.44

0.19

18.1

13.5

22.9

24.9

mg/l

0.14

173

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

112

1.28

0.18

2.5

2.3

—

(42870588) Differential panel, method unspecified - Blood

1.26

0.18

6.4

4.1

—

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

0.75

0.17

6.1

3.6

—

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

0.80

0.17

2.4

2.3

54.9

57.5

u/l

—

(3026008) Bacteria identified in Urine by Culture

1.26

0.15

3.1

3.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.10

0.10

5.4

4.6

—

(3003694) ABO and Rh group [Type] in Blood

0.78

0.09

1.2

1.3

—

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

155

0.94

0.00

3.0

3.9

6.1

6.6

mmol/l

1.02

147

(3041096) Erythrocytes [Presence] in Urine by Automated

0.92

0.00

5.8

3.1

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

0.00

0.0

6.7

—

1.0

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3018572) Chloride [Moles/volume] in Blood

0.00

0.0

6.4

—

104.8

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

2.6

—

30.8

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

3.0

—

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

0.00

0.0

1.0

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

2.2

—

57.4

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.3

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

1.0

—

(3013512) EKG study

0.93

0.00

4.9

4.2

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

1.6

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

0.0

1.6

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.0

1.8

—

5.7

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

0.0

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

0.0

—

(3032080) INR in Blood by Coagulation assay

0.94

0.00

3.6

8.3

—

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

37.0

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

130

1.00

0.00

8.8

5.7

9.5

10.0

umol/l

0.22

119

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

0.0

—

(3028626) Oxygen [Partial pressure] in Capillary blood

0.00

0.0

3.7

—

8.3

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

0.00

0.0

6.3

—

1.9

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.0

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

1.4

—

(1761868) Lipid panel - Serum or Plasma

1.02

0.00

5.1

3.2

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

0.0

5.8

—

0.8

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.1

—

50.6

—

(3039000) Anion gap in Blood

0.00

0.0

6.4

—

11.5

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.2

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

0.00

0.0

2.7

—

26.4

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

0.0

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

2.3

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

3.6

—

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

0.00

0.0

1.0

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.9

—

3.2

—

(4034850)

0.00

0.0

7.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint M13_KASHINBECK and mortality.

Females

Parameter	HR [95% CI]	p-value
M13_KASHINBECK	1.032 [0.79, 1.34]	0.813
Birth year	0.996 [0.99, 1.0]	0.336

During the follow-up period (1.1.1998 — 31.12.2019), 64 out of 186 females with M13_KASHINBECK died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_KASHINBECK.

N-year risk	Females	Males
1	0.107%	No data
5	0.616%	No data
10	1.581%	No data
15	2.881%	No data
20	5.35%	No data

Relationships between endpoints

↥

Index endpoint: M13_KASHINBECK – Kaschin-Beck disease

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

Kaschin-Beck disease

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