2018年度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
Angelman氏症候群（天使
5
Angelman Syndrome
综合征）
6 精氨酸酶缺乏症Arginase Deficiency
热纳综合征（窒息性胸腔失Asphyxiating Thoracic Dystrophy
7
养症）(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
Autoimmune Insulin Receptopathy
11 自身免疫性胰岛素受体病
(Type B insulin resistance)
12 快酮硫解酶缺乏症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
先天性高胰岛素性低血糖
20
Congenital Hyperinsulinemic Hypoglycemia 血症
21 先天性肌无力综合征Congenital Myasthenic Syndrome
先天性肌强直（非营养不良
Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
22
性肌强直综合征）
23 先天性脊柱侧弯Congenital Scoliosis
24 冠状动脉扩张病Coronary Artery Ectasia
先天性纯红细胞再生障碍
Diamond-Blackfan Anemia
25
性贫血
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1型Glutaric Acidemia Type I
35 糖原累积病（1型、H型）Glycogen Storage Disease (Type I 、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
Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with 42 遗传性多发脑梗死性痴呆
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
特发性低促性腺激素性性
53
Idiopathic Hypogonadotropic Hypogonadism
腺功能减退症
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 lgG4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
长链3-羟酰基辅酶A脱氢酶
63
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 缺乏症
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
中链酰基辅酶A脱氢酶缺
70
Medium Chain Acyl-CoA Dehydrogenase Deficiency 乏症
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
多种酰基辅酶A脱氢酶缺乏
75
Multiple Acyl-CoA Dehydrogenase Deficiency 症
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
N-乙酰谷氨酸合成酶缺乏
79
N-acetylglutamate Synthase Deficiency 症
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
鸟氨酸氨甲酰基转移酶缺
Ornithine Transcarbamylase Deficiency
85
乏症
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
进行性家族性肝内胆汁淤
Progressive Familial Intrahepatic Cholestasis
97
积症
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
婴儿严重肌阵挛性癫痫
Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) 105
（Dravet综合征）
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
脊髓延髓肌萎缩症（肯尼迪
Spinal and Bulbar Muscular Atrophy (Kennedy Disease) 109
病）
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
极长链酰基辅酶A脱氢酶
116
Very Long Chain Acyl-CoA Dehydrogenase Deficiency 缺乏症
117 威廉姆斯综合征Williams Syndrome
湿疹血小板减少伴免疫缺
118
Wiskott-Aldrich Syndrome
陷综合征
119 X-连锁无丙种球蛋白血症X-linked Agammaglobulinemia
X-连锁肾上腺脑白质营养
120
X-linked Adrenoleukodystrophy
不良
121 X-连锁淋巴增生症X-linked Lymphoproliferative Disease