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Table 1 Summary of disorder types, linearisation parents and type of inheritance for the rare disorder spectrum

From: Rare disorders have many faces: in silico characterization of rare disorder spectrum

Category

Overalla

Borderline-common

Rare

Ultra-rare

Db

Measuresc

Prop, %

Prop, %

Adj. p-valued

Prop, %

Adj. p-valued

Prop, %

Disorder type

       

Disease

58.14

61.38

NS

76.70

1.06 × 10–16

55.41

–

Malformation syndrome

38.17

11.03

1.69 × 10–15

15.78

2.14 × 10–27

42.60

↑

Morphological anomaly

2.36

11.72

4.13 × 10–09

4.37

9.97 × 10–04

1.62

↓

Particular clinical situation in a disease or syndrome

0.88

13.79

6.32 × 10–26

2.43

1.08 × 10–08

0.03

↓

Clinical syndrome

0.31

2.07

5.84 × 10–03

0.73

NS

0.17

↓

Biological anomaly

0.14

–

–

–

–

0.17

–

Top 10 linearisation parents for the RD spectrum

       

Rare developmental defect during embryogenesis

37.97

21.38e

7.75 × 10–06

21.12e

1.17 × 10–14

41.12e

↑

Rare neurologic disease

20.09

8.97e

9.59 × 10–04

22.82e

NS

20.26e

–

Rare inborn errors of metabolism

7.63

1.38

4.25 × 10–03

11.89e

9.34 × 10–03

7.35e

–

Rare bone disease

7.49

1.38

1.68 × 10–03

4.37

1.05 × 10–02

8.22e

↑

Rare skin disease

5.56

5.52

NS

5.58e

NS

5.56e

–

Rare ophthalmic disorder

3.41

8.28e

3.48 × 10–03

5.10

4.64 × 10–02

2.93

↓

Rare immune disease

3.15

0.69

NS

3.16

NS

3.27

–

Rare endocrine disease

2.95

6.90

7.76 × 10–03

4.85

2.13 × 10–02

2.49

↓

Rare hematologic disease

2.89

8.28e

8.25 × 10–04

5.10

9.34 × 10–03

2.33

↓

Rare systemic or rheumatologic disease

2.67

10.34e

2.31 × 10–06

6.31e

7.32 × 10–06

1.79

↓

Type of inheritance

       

Autosomal recessive

41.23

20.00

1.31 × 10–07

39.81

NS

42.47

↑

Autosomal dominant

26.39

28.97

NS

32.28

1.63 × 10–02

25.45

–

X-linked recessive

6.47

4.14

NS

8.74

NS

6.27

–

X-linked dominant

1.45

0.69

NS

1.94

NS

1.42

–

Mitochondrial inheritance

0.54

1.38

NS

1.21

NS

0.40

–

Semi-dominant

0.11

0.69

NS

–

–

0.10

–

Y-linked

0.06

0.69

NS

–

–

0.03

–

Oligogenic

0.03

–

–

0.24

–

–

–

Multigenic/multifactorial

1.59

14.48

2.04 × 10–21

6.31

1.67 × 10–16

0.30

↓

  1. The rare disorder (RD) spectrum consists of 3,524 RDs of which 145, 412 and 2,967 RDs were categorized as borderline-common, rare, and ultra-rare, respectively. The proportions within the borderline-common and rare disorder categories were compared with those within the ultra-rare disorder category
  2. aNo RDs were categorized into the > 1/1000 prevalence group
  3. bDirection of change of proportions from borderline-common to ultra-rare (D)
  4. cProportion (prop) was calculated based on total number of RDs within the disorder category
  5. dFDR-adjusted p < 0.05 was considered statistically significant; NS refers to not significant
  6. eTop 5 linearisation parents within the disorder category
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172