On Sept. 20, 2023, China's National Health Commission (NHC) and five other authorities collaborated to release the Second Catalog of Rare Diseases, which comprises 86 rare diseases across various medical specialties including hematology, dermatology, rheumatology & immunology, pediatrics, neurology, and endocrinology.
This new catalog supplements the initial announcement made in 2018, expanding the number of recognized rare diseases in China to 207.
In line with China's emphasis on and support for the development of orphan drugs, medications designated for rare diseases in the catalog have a high likelihood of qualifying for priority review to expedite the process of obtaining marketing authorization. With priority review status, the technical review timeline for rare disease drugs will be reduced from the standard 200 workdays to 70 workdays, facilitating faster access to these treatments.
Related: FAQ on Rare Disease Drugs (Orphan Drugs) in China
China’s Second Catalog of Rare Diseases (Issued 20/09/2023)
No. | Rare disease (Chinese name) | Rare disease (English name) |
1 | 软骨发育不全 | Achondroplasia |
2 | 获得性血友病 | Acquired hemophilia |
3 | 肢端肥大症 | Acromegaly |
4 | 成人斯蒂尔病 | Adult-onset Still disease |
5 | Alagille综合征 | Alagille syndrome |
6 | α-1-抗胰蛋白酶缺乏症 | Alpha-1-antitrypsin deficiency |
7 | ANCA相关性血管炎 | ANCA-associated vasculitis |
8 | Bardet-Biedl 综合征 | Bardet-Biedl syndrome |
9 | 白塞病/贝赫切特综合征 | Behçet's disease |
10 | 蓝色橡皮疱样痣 | Blue rubber bleb nevus |
11 | CDKL5缺乏症 | CDKL5-deficiency disorder |
12 | 无脉络膜症 | Choroideremia |
13 | 慢性炎性脱髓鞘性多发性神经根神经病 | Chronic inflammatory demyelinating polyneuropathy |
14 | 肾透明细胞肉瘤 | Clear cell sarcoma of kidney |
15 | 冷凝集素病 | Cold agglutinin disease |
16 | 先天性胆道闭锁 | Congenital biliary atresia |
17 | 先天性凝血因子VII缺乏症 | Congenital factor VII deficiency |
18 | 冷吡啉(冷炎素)相关周期性综合征/NLRP3相关自身炎症性疾病 | Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease |
19 | 皮肤神经内分泌癌(梅克尔细胞癌) | Cutaneous neuroendocrine carcinoma (Merkel cell carcinoma) |
20 | 皮肤T细胞淋巴瘤 | Cutaneous T-cell lymphomas |
21 | 胱氨酸贮积症 | Cystinosis |
22 | 隆突性皮肤纤维肉瘤 | Dermatofibrosarcoma protuberans |
23 | 嗜酸性粒细胞性胃肠炎 | Eosinophilic gastroenteritis |
24 | 上皮样肉瘤 | Epithelioid sarcoma |
25 | 面肩肱型肌营养不良症 | Facioscapulohumeral muscular dystrophy |
26 | 家族性噬血细胞淋巴组织细胞增生症 | Familial hemophagocytic lymphohistiocytosis |
27 | 家族性腺瘤性息肉病 | Familial adenomatous polyposis |
28 | 进行性骨化性纤维发育不良 | Fibrodysplasia ossificans progressiva |
29 | 脆性X综合征 | Fragile X syndrome |
30 | 神经节苷脂贮积症 | Gangliosidosis |
31 | 胃肠胰神经内分泌肿瘤 | Gastroenteropancreatic neuroendocrine neoplasm |
32 | 胃肠间质瘤 | Gastrointestinal stromal tumor |
33 | 泛发性脓疱型银屑病 | Generalized pustular psoriasis |
34 | 遗传性甲状旁腺功能减退症 | Genetic hypoparathyroidism |
35 | 巨细胞动脉炎 | Giant cell arteritis |
36 | 骨巨细胞瘤 | Giant cell tumor of bone |
37 | 血小板无力症 | Glanzmann thrombasthenia |
38 | 胶质母细胞瘤 | Glioblastoma |
39 | 高林综合征 | Gorlin syndrome |
40 | 化脓性汗腺炎 | Hidradenitis suppurativa |
41 | 早老症 | Hutchinson-Gilford progeria syndrome |
42 | 炎性肌纤维母细胞瘤 | Inflammatory myofibroblastic tumor |
43 | Leber先天性黑矇 | Leber congenital amaurosis |
44 | Lennox-Gastaut 综合征 | Lennox-Gastaut syndrome |
45 | 角膜缘干细胞缺乏症 | Limbal stem cell deficiency |
46 | 恶性高热 | Malignant hyperthermia |
47 | 恶性胸膜间皮瘤 | Malignant pleural mesothelioma |
48 | 黑色素瘤 | Melanoma |
49 | 异染性脑白质营养不良 | Metachromatic leukodystrophy |
50 | 单基因非综合征性肥胖 | Monogenic non-syndromic obesity |
51 | 多发性内分泌腺瘤病 | Multiple endocrine neoplasia |
52 | 发作性睡病 | Narcolepsy |
53 | 神经母细胞瘤 | Neuroblastoma |
54 | 神经纤维瘤病 | Neurofibromatosis |
55 | 神经元蜡样脂褐质沉积症 | Neuronal ceroid lipofuscinosis |
56 | 神经营养性角膜炎 | Neurotrophic keratitis |
57 | 骨肉瘤 | Osteosarcoma |
58 | 天疱疮 | Pemphigus |
59 | 新生儿持续肺动脉高压 | Persistent pulmonary hypertension of the newborn |
60 | 嗜铬细胞瘤 | Pheochromocytoma |
61 | PIK3CA相关过度生长综合征 | PIK3CA related overgrowth syndrome |
62 | 真性红细胞增多症 | Polycythaemia vera |
63 | 原发性胆汁性胆管炎 | Primary biliary cholangitis |
64 | 原发性生长激素缺乏症 | Primary growth hormone deficiency |
65 | 原发性胰岛素样生长因子-1缺乏症 | Primary IGF1 deficiency |
66 | 原发性免疫缺陷 | Primary immunodeficiency |
67 | 原发性骨髓纤维化 | Primary myelofibrosis |
68 | 原发性硬化性胆管炎 | Primary sclerosing cholangitis |
69 | 进行性纤维化性间质性肺疾病 | Progressive fibrosing interstitial lung disease |
70 | 复发性心包炎 | Recurrent pericarditis |
71 | 早产儿视网膜病 | Retinopathy of prematurity |
72 | Rett综合征 | Rett syndrome |
73 | 短肠综合征 | Short bowel syndrome |
74 | 全身型幼年特发性关节炎 | Systemic juvenile idiopathic arthritis |
75 | 系统性肥大细胞增多症 | Systemic mastocytosis |
76 | 大动脉炎/多发性大动脉炎 | Takayasu arteritis |
77 | 腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎 | Tenosynovial giant cell tumor/Pigmented villonodular synovitis |
78 | 地中海贫血(重型) | Thalassemia major |
79 | 血栓性血小板减少性紫癜 | Thrombotic thrombocytopenic purpura |
80 | 转甲状腺素蛋白淀粉样变性 | Transthyretin amyloidosis |
81 | 肿瘤坏死因子受体相关周期性综合征 | Tumor necrosis factor receptor associated periodic syndrome |
82 | 肿瘤相关骨软化症 | Tumor-induced osteomalacia |
83 | Von Hippel-Lindau综合征 | Von Hippel-Lindau syndrome |
84 | 血管性血友病Ⅲ型 | Von Willebrand disease type 3 |
85 | 华氏巨球蛋白血症/淋巴浆细胞淋巴瘤 | Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma |
86 | West综合征/婴儿痉挛综合征 | West syndrome/Infantile spasms syndrome |
China’s First Catalog of Rare Diseases (Issued 08/06/2018)
No. | Rare disease (Chinese name) | Rare disease (English name) |
1 | 21-羟化酶缺乏症 | 21-Hydroxylase Deficiency |
2 | 白化病 | Albinism |
3 | Alport 综合征 | Alport Syndrome |
4 | 肌萎缩侧索硬化 | Amyotrophic Lateral Sclerosis |
5 | Angelman 氏症候群(天使综合征) | Angelman Syndrome |
6 | 精氨酸酶缺乏症 | Arginase Deficiency |
7 | 热纳综合征(窒息性胸腔失养症) | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) |
8 | 非典型溶血性尿毒症 | Atypical Hemolytic Uremic Syndrome |
9 | 自身免疫性脑炎 | Autoimmune Encephalitis |
10 | 自身免疫性垂体炎 | Autoimmune Hypophysitis |
11 | 自身免疫性胰岛素受体病 | Autoimmune Insulin Receptopathy (Type B insulin resistance) |
12 | β-酮硫解酶缺乏症 | Beta-ketothiolase Deficiency |
13 | 生物素酶缺乏症 | Biotinidase Deficiency |
14 | 心脏离子通道病 | Cardic Ion Channelopathies |
15 | 原发性肉碱缺乏症 | Carnitine Deficiency |
16 | Castleman病 | Castleman Disease |
17 | 腓骨肌萎缩症 | Charcot-Marie-Tooth Disease |
18 | 瓜氨酸血症 | Citrullinemia |
19 | 先天性肾上腺发育不良 | Congenital Adrenal Hypoplasia |
20 | 先天性高胰岛素性低血糖血症 | Congenital Hyperinsulinemic Hypoglycemia |
21 | 先天性肌无力综合征 | Congenital Myasthenic Syndrome |
22 | 先天性肌强直(非营养不良性肌强直综合征) | Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) |
23 | 先天性脊柱侧弯 | Congenital Scoliosis |
24 | 冠状动脉扩张病 | Coronary Artery Ectasia |
25 | 先天性纯红细胞再生障碍性贫血 | Diamond-Blackfan Anemia |
26 | Erdheim-Chester病 | Erdheim-Chester Disease |
27 | 法布雷病 | Fabry Disease |
28 | 家族性地中海热 | Familial Mediterranean Fever |
29 | 范可尼贫血 | Fanconi Anemia |
30 | 半乳糖血症 | Galactosemia |
31 | 戈谢病 | Gaucher’s Disease |
32 | 全身型重症肌无力 | Generalized Myasthenia Gravis |
33 | Gitelman 综合征 | Gitelman Syndrome |
34 | 戊二酸血症I型 | Glutaric Acidemia Type I |
35 | 糖原累积病(I型、Ⅱ型) | Glycogen Storage Disease (Type I, Type II) |
36 | 血友病 | Hemophilia |
37 | 肝豆状核变性 | Hepatolenticular Degeneration (Wilson Disease) |
38 | 遗传性血管性水肿 | Hereditary Angioedema (HAE) |
39 | 遗传性大疱性表皮松解症 | Hereditary Epidermolysis Bullosa |
40 | 遗传性果糖不耐受症 | Hereditary Fructose Intolerance |
41 | 遗传性低镁血症 | Hereditary Hypomagnesemia |
42 | 遗传性多发脑梗死性痴呆 | Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL) |
43 | 遗传性痉挛性截瘫 | Hereditary Spastic Paraplegia |
44 | 全羧化酶合成酶缺乏症 | Holocarboxylase Synthetase Deficiency |
45 | 同型半胱氨酸血症 | Homocysteinemia |
46 | 纯合子家族性高胆固醇血症 | Homozygous Hypercholesterolemia |
47 | 亨廷顿舞蹈病 | Huntington Disease |
48 | HHH综合征 | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome |
49 | 高苯丙氨酸血症 | Hyperphenylalaninemia |
50 | 低碱性磷酸酶血症 | Hypophosphatasia |
51 | 低磷性佝偻病 | Hypophosphatemic Rickets |
52 | 特发性心肌病 | Idiopathic Cardiomyopathy |
53 | 特发性低促性腺激素性性腺功能减退症 | Idiopathic Hypogonadotropic Hypogonadism |
54 | 特发性肺动脉高压 | Idiopathic Pulmonary Arterial Hypertension |
55 | 特发性肺纤维化 | Idiopathic Pulmonary Fibrosis |
56 | IgG4相关性疾病 | IgG4 related Disease |
57 | 先天性胆汁酸合成障碍 | Inborn Errors of Bile Acid Synthesis |
58 | 异戊酸血症 | Isovaleric Acidemia |
59 | 卡尔曼综合征 | Kallmann Syndrome |
60 | 朗格汉斯组织细胞增生症 | Langerhans Cell Histiocytosis |
61 | 莱伦氏综合征 | Laron Syndrome |
62 | Leber遗传性视神经病变 | Leber Hereditary Optic Neuropathy |
63 | 长链3-羟酰基辅酶A脱氢酶缺乏症 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
64 | 淋巴管肌瘤病 | Lymphangioleiomyomatosis (LAM) |
65 | 赖氨酸尿蛋白不耐受症 | Lysinuric Protein Intolerance |
66 | 溶酶体酸性脂肪酶缺乏症 | Lysosomal Acid Lipase Deficiency |
67 | 枫糖尿症 | Maple Syrup Urine Disease |
68 | 马凡综合征 | Marfan Syndrome |
69 | McCune-Albrigh综合征 | McCune-Albright Syndrome |
70 | 中链酰基辅酶A脱氢酶缺乏症 | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
71 | 甲基丙二酸血症 | Methylmalonic Academia |
72 | 线粒体脑肌病 | Mitochodrial Encephalomyopathy |
73 | 黏多糖贮积症 | Mucopolysaccharidosis |
74 | 多灶性运动神经病 | Multifocal Motor Neuropathy |
75 | 多种酰基辅酶A脱氢酶缺乏症 | Multiple Acyl-CoA Dehydrogenase Deficiency |
76 | 多发性硬化 | Multiple Sclerosis |
77 | 多系统萎缩 | Multiple System Atrophy |
78 | 肌强直性营养不良 | Myotonic Dystrophy |
79 | N-乙酰谷氨酸合成酶缺乏症 | N-acetylglutamate Synthase Deficiency |
80 | 新生儿糖尿病 | Neonatal Diabetes Mellitus |
81 | 视神经脊髓炎 | Neuromyelitis Optica |
82 | 尼曼匹克病 | Niemann-Pick Disease |
83 | 非综合征性耳聋 | Non-Syndromic Deafness |
84 | Noonan综合征 | Noonan Syndrome |
85 | 鸟氨酸氨甲酰基转移酶缺乏症 | Ornithine Transcarbamylase Deficiency |
86 | 成骨不全症(脆骨病) | Osteogenesis Imperfecta (Brittle Bone Disease) |
87 | 帕金森病(青年型、早发型) | Parkinson Disease (Young-onset, Early-onset) |
88 | 阵发性睡眠性血红蛋白尿 | Paroxysmal Nocturnal Hemoglobinuria |
89 | 黑斑息肉综合征 | Peutz-Jeghers Syndrome |
90 | 苯丙酮尿症 | Phenylketonuria |
91 | POEMS综合征 | POEMS Syndrome |
92 | 卟啉病 | Porphyria |
93 | Prader-Willi综合征 | Prader-Willi Syndrome |
94 | 原发性联合免疫缺陷 | Primary Combined Immune Deficiency |
95 | 原发性遗传性肌张力不全 | Primary Hereditary Dystonia |
96 | 原发性轻链型淀粉样变 | Primary Light Chain Amyloidosis |
97 | 进行性家族性肝内胆汁淤积症 | Progressive Familial Intrahepatic Cholestasis |
98 | 进行性肌营养不良 | Progressive Muscular Dystrophy |
99 | 丙酸血症 | Propionic Acidemia |
100 | 肺泡蛋白沉积症 | Pulmonary Alveolar Proteinosis |
101 | 肺囊性纤维化 | Pulmonary Cystic Fibrosis |
102 | 视网膜色素变性 | Retinitis Pigmentosa |
103 | 视网膜母细胞瘤 | Retinoblastoma |
104 | 重症先天性粒细胞缺乏症 | Severe Congenital Neutropenia |
105 | 婴儿严重肌阵挛性癫痫(Dravet综合征) | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) |
106 | 镰刀型细胞贫血病 | Sickle Cell Disease |
107 | Silver-Russell综合征 | Silver-Russell Syndrome |
108 | 谷固醇血症 | Sitosterolemia |
109 | 脊髓延髓肌萎缩症(肯尼迪病) | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) |
110 | 脊髓性肌萎缩症 | Spinal Muscular Atrophy |
111 | 脊髓小脑性共济失调 | Spinocerebellar Ataxia |
112 | 系统性硬化症 | Systemic Sclerosis |
113 | 四氢生物蝶呤缺乏症 | Tetrahydrobiopterin Deficiency |
114 | 结节性硬化症 | Tuberous Sclerosis Complex |
115 | 原发性酪氨酸血症 | Tyrosinemia |
116 | 极长链酰基辅酶A脱氢酶缺乏症 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
117 | 威廉姆斯综合征 | Williams Syndrome |
118 | 湿疹血小板减少伴免疫缺陷综合征 | Wiskott-Aldrich Syndrome |
119 | X-连锁无丙种球蛋白血症 | X-linked Agammaglobulinemia |
120 | X-连锁肾上腺脑白质营养不良 | X-linked Adrenoleukodystrophy |
121 | X-连锁淋巴增生症 | X-linked Lymphoproliferative Disease |