China Releases the 2nd Catalog of Rare Diseases

by Grace Wang Sep 21, 2023

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--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

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

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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

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

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

Glutaric Acidemia Type I

35

糖原累积病(I型、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

Grace Wang
ChemLinked Regulatory Analyst & Editor
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