China’s Second List of Rare Diseases

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On September 18, China’s National Health Commission, released their second list of rare diseases. This list includes 86 rare diseases including Giant Cell arteritis, Gorlin Syndrome, Fragile X Syndrome, etc.

 No. Chinese Name 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 type3
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