2018年国家罕见病目录一览表
2018年国家罕见病目录一览表
2018年国家罕见病目录一览表
序号中文名称英文名称
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
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Very Long Chain Acyl-CoA Dehydrogenase Deficiency