Table 1. Incidence and prevalence of rare diseases in China's First List of Rare Diseases.
| No. | Rare disease | National Diagnosis and Treatment Guide published data (3) |
Other published data |
||
|---|---|---|---|---|---|
| Incidence/100,000 persons | Prevalence/100,000 persons | Incidence/100,000 persons | Prevalence/100,000 persons | ||
| 1 | 21-hydroxylase deficiency | / | / | 3.08 (Dongguan, Guangzhou) (4) 3.03 (Liuzhou, Guangxi) (5) |
/ |
| 2 | Albinism | 5.56 | / | / | 5.13 (6) |
| 3 | Alport syndrome | / | / | / | / |
| 4 | Amyotrophic lateral sclerosis | 0.6 (Hong Kong) | 3.1 (Hong Kong) | 0.6 (Hong Kong) (7) 0.51 (Taiwan) (8) |
3.04 (Hong Kong) (7) 3.33 (Taiwan) (9) |
| 5 | Angelman syndrome | / | / | / | 0.29 (Taiwan) (9) |
| 6 | Arginase deficiency | / | / | / | 0.43 (Zhejiang) (10) |
| 7 | Asphyxiating thoracic dystrophy | / | / | / | 0.00 (Taiwan) (9) |
| 8 | Atypical hemolytic uremic syndrome | / | / | / | 0.068 (Taiwan) (9) |
| 9 | Encephalitis autoimmune | / | / | / | / |
| 10 | Autoimmune hypophysitis | / | / | / | / |
| 11 | Autoimmune encephalitis | / | / | / | / |
| 12 | β-ketothiolase deficiency | 0.10 (Zhejiang) | / | / | / |
| 13 | Biotinidase deficiency | / | / | / | 0.025 (Taiwan) (9) |
| 14 | Cardiac ion channelopathies | / | / | / | / |
| 15 | Primary carnitine deficiency | / | 2.4 (Shanghai) 3.1 (Zhejiang) 1.1 (Hong Kong) 0.8 (Taiwan) |
1.27 (Yancheng, Jiangsu) (11) | 2.5 (12) 0.60 (Taiwan) (9) |
| 16 | Castleman disease | / | / | / | / |
| 17 | Charcot-Marie-Tooth disease | / | / | / | 1.44 (Taiwan) (9) |
| 18 | Citrullinemia | / | / | 8.66 (Taiwan) (13) | 0.32 (Taiwan) (9) |
| 19 | Congenital adrenal hypoplasia | / | / | / | 0.081 (Taiwan) (9) |
| 20 | Congenital hyperinsulinemic hypoglycemia | / | / | / | 0.29 (Taiwan) (9) |
| 21 | Congenital myasthenic syndrome | / | / | / | / |
| 22 | Congenital myotonia | / | / | / | / |
| 23 | Congenital scoliosis | / | / | / | 202.43 (Luohe, He'nan) (14) 295.98 (Female, Luohe, He'nan) (14) 110.63 (Male, Luohe, He'nan) (14) |
| 24 | Coronary artery ectasia | / | / | / | 656 (Beijing) (15) |
| 25 | Diamond-Blackfan anemia | / | / | / | / |
| 26 | Erdheim-Chester disease | / | / | / | / |
| 27 | Fabry disease | / | / | / | 1.34 (Taiwan) (9) |
| 28 | Familial mediterranean fever | / | / | / | / |
| 29 | Fanconi anemia | / | / | / | / |
| 30 | Galactosemia | / | 0.53 (Zhejiang) | 0.25 (Taiwan) (12) | 0.11 (Taiwan) (9) |
| 31 | Gaucher disease | 1.24 (Shanghai) | / | / | 0.15 (Taiwan) (9) |
| 32 | Generalized myasthenia gravis | / | / | / | / |
| 33 | Gitelman syndrome | / | / | / | / |
| 34 | Glutaric acidemia type I | 1.67 | / | 0.77 (Zhejiang) (12) | |
| 35 | Glycogen storage disease (type I, Ⅱ) | 2 (Taiwan) | / | 1 (Taiwan) (12) | 3.0 (8 provinces in China) (16) |
| 36 | Hemophilia | 20 (Male, Blood group A); 4 (Male, Blood group B) |
2.73 (China mainland) | / | 2.7 (China mainland) (17) 5.5 (Male, China mainland) (18) 2.0 (Blood group A, 8 provinces in China) (16) 8.1 (Male, Taiwan) (19) 6.4 (Hong Kong) (20) |
| 37 | Hepatolenticular degeneration | / | / | / | 2.85 (8 provinces in China) (16) |
| 38 | Hereditary angioedema | / | / | / | 0.034 (Taiwan) (9) |
| 39 | Hereditary epidermolysis bullosa | / | / | / | 0.30 (Taiwan) (9) |
| 40 | Hereditary fructose intolerance | / | / | / | / |
| 41 | Hereditary hypomagnesemia | / | / | / | / |
| 42 | Hereditary multi-infarct dementia | / | / | / | / |
| 43 | Hereditary spastic paraplegia | / | / | / | 0.48 (Taiwan) (9) |
| 44 | Holocarboxylase synthetase deficiency | / | / | / | / |
| 45 | Hyperhomocysteinemia | / | / | / | / |
| 46 | Homozygous familial hypercholesterolemia | / | / | / | 0.20 (Taiwan) (9) |
| 47 | Huntington's disease | / | / | / | 1.23 (Taiwan) (9) |
| 48 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) | / | / | / | / |
| 49 | Hyperphenylalaninemia | / | 9.62 | 12.67 (Yancheng, Jiangsu) (11) | 9.62 (21) |
| 50 | Hypophosphatasia | / | / | / | 0.017 (Taiwan) (9) |
| 51 | Hypophosphatemic rickets | / | / | / | 0.52 (Taiwan) (9) |
| 52 | Idiopathic cardiomyopathy | / | / | / | / |
| 53 | Idiopathic hypogonadotropic hypogonadism | / | / | / | / |
| 54 | Idiopathic pulmonary arterial hypertension | / | / | / | 1.56 (Taiwan) (9) |
| 55 | Idiopathic pulmonary fibrosis | / | / | / | / |
| 56 | IgG4 related disease | / | / | / | / |
| 57 | Inborn errors of bile acid synthesis | / | / | / | 0.013 (Taiwan) (9) |
| 58 | Isovaleric acidemia | 0.63 | / | 0.63 (Shanghai) (12) 0.27 (Taiwan) (12) |
0.047 (Taiwan) (9) |
| 59 | Kallmann syndrome | / | / | 0.20 (Taiwan) (9) | |
| 60 | Langerhans cell histiocytosis | / | / | / | / |
| 61 | Laron syndrome | / | / | / | 0.021 (Taiwan) (9) |
| 62 | Lever hereditary optic neuropathy | / | ≥ 1.092 (Xingtai, Hebei) | / | / |
| 63 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 0.4 | / | / | / |
| 64 | Lymphangioleiomyomatosis | / | / | / | / |
| 65 | Lysinuric protein intolerance | / | / | / | / |
| 66 | Lysosomal acid lipase deficiency | / | / | / | 0.0042 (Taiwan) (9) |
| 67 | Maple syrup urine disease | / | 0.72 (China mainland) 1 (Taiwan) | 0.72 (Shanghai) (12) 0.56 (Zhejiang) (12) 1 (Taiwan) (12) |
0.12 (Taiwan) (9) |
| 68 | Marfan syndrome | / | / | / | 0.75 (8 provinces in China) (16) |
| 69 | McCune-Albright syndrome | / | / | / | 0.089 (Taiwan) (9) |
| 70 | Medium-chain acyl-CoA dehydrogenase deficiency | / | 0.66 | 0.67(China mainland) (13) 0.28 (Zhejiang) (12) 1.43 (Shanghai) (22) 2.13 (Shandong) (22) 0.38 (Taiwan) (13) |
0.034 (Taiwan) (9) 0.74 (Shanghai) (12) |
| 71 | Methylmalonic acidemia | 10 (North China) | 3.57 (China mainland) 1.16 (Taiwan) |
1.27 (Yancheng, Jiangsu) (11) | 3 (Shanghai) (12) 1.5 (Zhejiang) (12) 0.22 (Taiwan) (9) |
| 72 | Mitochondrial encephalomyopathy | / | / | / | / |
| 73 | Mucopolysaccharidosis | / | / | / | 0.46 (Taiwan) (9) |
| 74 | Multifocal motor neuropathy | / | / | / | / |
| 75 | Multi acyl-CoA dehydrogenase deficiency | / | / | / | / |
| 76 | Sclerosis multiple | / | / | / | 3.4 (Male, 8 provinces in China) (16) 6.3 (Female, 8 provinces in China) (16) 7.02 (Taiwan) (9) 4.8 (Hong Kong) (23) |
| 77 | Multiple system atrophy | / | / | / | 0.65 (8 provinces in China) (16) |
| 78 | Myotonic dystrophy | / | / | / | 0.70 (Taiwan) (9) |
| 79 | N-acetylglutamate synthase deficiency | / | / | / | / |
| 80 | Neonatal diabetes mellitus | / | / | / | 0.0042 (Taiwan) (9) |
| 81 | Optical neuromyelitis | / | / | / | / |
| 82 | Niemann-Pick disease | / | / | / | 0.059 (Taiwan) (9) |
| 83 | Nonsyndromic hearing loss | / | / | / | / |
| 84 | Noonan syndrome | / | / | / | / |
| 85 | Ornithine transcarbamylase deficiency | / | / | / | 0.089 (Taiwan) (9) |
| 86 | Osteogenesis imperfecta | / | / | / | 11.3 (8 provinces in China) (16) 1.45 (Taiwan) (9) |
| 87 | Parkinson's disease (early-onset; young-onset) | / | / | / | 7.39 (Taiwan) (24) |
| 88 | Paroxysmal nocturnal hemoglobinuria | 2.7 (Mudanjiang, Heilongjiang) 1 |
/ | 0.21 (13) 0.041 (25) 0.063 (6 provinces in China) (25) |
0.614 (25) 0.8 (8 provinces in China) (16) 1.419 (6 provinces in China) (25) 0.45 (Taiwan) (9) |
| 89 | Peutz-Jeghers syndrome | / | / | / | / |
| 90 | Phenylketonuria | 8.47 | / | 8.5 (12) 1.82 (Taiwan) (12) |
9.62 (12) 1.17 (Taiwan) (9) |
| 91 | POEMS syndrome | / | / | / | / |
| 92 | Porphyria | / | / | / | 0.44 (Taiwan) (9) |
| 93 | Prader-Willi syndrome | / | / | / | 1.22 (Taiwan) (9) |
| 94 | Primary combined immunodeficiency | / | / | / | / |
| 95 | Primary hereditary dystonia | / | / | / | / |
| 96 | Primary light chain amyloidosis | / | / | / | / |
| 97 | Progressive familial intrahepatic cholestasis | / | / | / | 0.059 (Taiwan) (9) |
| 98 | Progressive muscular dystrophy | 25.95 | / | 21.93 (13) | / |
| 99 | Propionic acidemia | / | 0.6~0.7 | 0.055 (Taiwan) (9) | |
| 100 | Pulmonary alveolar proteinosis | / | / | / | / |
| 101 | Pulmonary cystic fibrosis | / | / | / | 0.064 (Taiwan) (9) |
| 102 | Retinitis pigmentosa | / | / | / | 23.38 (Beijing rural areas) (26) 26.43 (13) |
| 103 | Retinoblastoma | / | / | / | / |
| 104 | Severe congenital neutropenia | / | / | / | / |
| 105 | Severe myoclonic epilepsy in infancy | / | / | / | 0.25 (Taiwan) (9) |
| 106 | Sickle cell disease | / | / | / | / |
| 107 | Silver-Russell syndrome | / | / | / | / |
| 108 | Sitosterolemia | / | / | / | 0.017 (Taiwan) (9) |
| 109 | Spinal bulbar muscular atrophy | / | / | / | / |
| 110 | Spinal muscular atrophy | / | / | / | 1.71 (Taiwan) (9) |
| 111 | Spinocerebellar ataxia | / | / | / | 4.41 (Taiwan) (9) |
| 112 | Systemic sclerosis | / | / | / | / |
| 113 | Tetrahydrobiopterin deficiency | / | / | / | 0.021 (Taiwan) (9) |
| 114 | Tuberous sclerosis complex | / | / | / | 2.16 (Taiwan) (9) |
| 115 | Tyrosinemia | / | / | / | 0.042 (Taiwan) (9) |
| 116 | Very long-chain acyl-CoA dehydrogenase deficiency | / | / | / | / |
| 117 | Williams syndrome | 4.26 (Hong Kong) | / | / | 1.07 (Taiwan) (9) |
| 118 | Wiskott-Aldrich syndrome | / | / | / | 0.064 (Taiwan) (9) |
| 119 | X-linked adrenoleukodystrophy | / | / | / | / |
| 120 | X-linked agammaglobulinemia | / | / | / | / |
| 121 | X-linked lymphoproliferative disease | / | / | / | / |
Note: Unless otherwise indicated, data are national data from China.