Table 1 General characteristics of the top 10 rare diseases with most cases on the Target Rare Diseases List 2017
Disease | Total No. | 2014 | 2015 | ||||
|---|---|---|---|---|---|---|---|
N | Male N (%) | Age (yr, mean ± SD) | N | Male N (%) | Age (yr, mean ± SD) | ||
Thalassemia | 14,855 | 6782 | 1761 (25.97%) | 28.5 ± 17.0 | 8073 | 1836 (22.74%) | 29.4 ± 16.5 |
IPAH | 9536 | 4661 | 1837 (39.41%) | 46.7 ± 24.7 | 4875 | 1934 (39.67%) | 51.6 ± 23.9 |
PLCH | 7657 | 3302 | 2114 (64.02%) | 7.1 ± 10.5 | 4355 | 2799 (64.27%) | 7.7 ± 11.5 |
Moyamoya disease | 7419 | 3441 | 1642 (47.72%) | 41.0 ± 15.3 | 3978 | 1834 (46.10%) | 42.3 ± 15.1 |
MND | 4057 | 2030 | 1331 (65.57%) | 55.8 ± 13.9 | 2027 | 1347 (66.45%) | 56.7 ± 12.8 |
IPF | 3764 | 1470 | 1001 (68.10%) | 67.3 ± 12.8 | 2294 | 1579 (68.83%) | 69.0 ± 13.1 |
SSc | 3252 | 1522 | 286 (18.80%) | 51.5 ± 13.8 | 1730 | 335 (19.36%) | 51.2 ± 14.2 |
HLD | 3000 | 1433 | 773 (53.94%) | 23.9 ± 13.3 | 1567 | 887 (56.60%) | 24.9 ± 14.2 |
CoA | 2654 | 1269 | 865 (68.16%) | 9.2 ± 14.8 | 1385 | 893 (64.48%) | 10.7 ± 16.4 |
TGA | 2221 | 1082 | 707 (65.34%) | 6.6 ± 13.1 | 1139 | 757 (66.46%) | 7.8 ± 14.4 |