什么是'罕见病'?
罕见病,又称“孤儿病”,是指发病率极低的疾病。根据WHO的定义,罕见病是患病人数占总人口0.65‰~1‰的一类疾病的统称,其中80%以上属于遗传性疾病,且90%的罕见病是严重性疾病。目前,全球已知的罕见病有近7000种,约占人类疾病总数的10%。其中,约有50%的罕见病患者为儿童,30%的患儿寿命不足五年。
据估计,目前我国的罕见病患者已达2000万人。
2018 第一批
罕见病目录
神经病学相关约40个
神经内科经常与罕见病战斗
序号 | 中文名称 | 英文名称
1.21-羟化酶缺乏症 21-Hydroxyulase Deficiency
2.白化病 Albinism.
3. Alport综合征 Alport Syndrome
4.肌萎缩侧索硬化Amyotrophic LateralSclerosis
5. Angelman氏症侯群(天使综合征) Angelman Syndrome
6. 精氨酸酶缺乏症 ArginaseDeficiency
7. 热纳综合征(窒息性胸腔失养症) Asphyxiating Thoracic Dystropby (JeuneSyndrome):
8. 非典型溶血性尿毒症 AtypicalHemolytic Uremic Syndrome
9. 自身免疫性脑炎 AutoimmuneEncephalitis
10.自身免疫性垂体炎AutoimmuneHypophysitis
11.自身免疫性胰岛素受体病AutoimmuneInsulin 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BiotinidaseDeficiency.
14. 心脏离子通道病Cardic lonChannelopathies
15 . 原发性肉碱缺乏症CarnitineDeficiency.
16 .Castleman病Castleman Disease
17. 腓骨肌萎缩症Charcot-Marie-ToothDisease
18. 瓜氨酸血症 Citrullinemia
19 . 先天性肾上腺发育不良CongenitalAdrenal Hypoplasia
20. 先天性高胰岛素性低血糖血症CongenitalHperinsulinemic Hypoglycemia
21 . 先天性肌无力综合征CongenitalMyasthenic 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 CongenitalScoliosis.
24. 冠状动脉扩张病Coronary ArteryEctasia
25. 先天性纯红细胞再生障碍性贫血Diamond-BlackfianAnemia
26. Erdheim-Chester病Erdheim-Chester Disease
27. 法布雷病Fabry Disease
28 . 家族性地中海热 FamilialMediterranean 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General Myathenic Gravis
33 . Gitelman综合征Gitelman Syndrome
34. 戊二酸血症Ⅰ型GhutaricAcidemia Type Ⅰ
35 . 糖原累积病(Ⅰ型、Ⅱ型)Glycogen Storage Disease (Type Ⅰ. Ⅱ)
36. 血友糖Hemophilia
37. 肝豆状核变性Hepatolenticular Degeneration(Wilson Disease)
38. 遗传性血管性水肿 HereditaryAngioedema (HAB)
39. 遗传性大疱性表皮松解症HereditaryEpidermolysis Bullosa
40. 遗传性果糖不耐受症HereditaryFructose Intolerance
41 . 遗传性低镁血症HereditaryHypomagnesemia.
42. 遗传性多发脑梗死性痴呆HereditaryMulti-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy withSubcortical Infarcts and Leukoencephalopathy, CADASLL)
43. 遗传性痉挛性截瘫HereditarySpastic Paraplegia.
44. 全羧化酶合成酶缺乏症HolocarboxylaseSynthetase Deficiency
45 . 同型半胱氨酸血症Homocysteinemia
46. 纯合子家族性高胆固醇血症HomozygousHypercholesterolemis
47.亨廷顿舞蹈病HuntingtonDisease
48 . HHHt合征Hyperornithinaemia-Hyperammonsemia-Hhomocitrullinuria Syndrome
49. 高苯丙胺酸血症Hyperphenylalaninemia
50. 低碱性磷酸酶血症Hypophosphatasia
51. 低磷性佝偻病HypophosphatemicRickets
52 . 特发性心肌病IdiopathicCardionyopathy
53. 特发性低促性腺激素性性腺功能减退症IdiopathicHypogonadotropic Hypogonadism.
54. 特发性肺动脉高压IdiopathicPulmonary Arterial Hypertension
55 . 特发性肺纤维化IdiopathicPulmonary Fibrosis
56 . IG4相关性疾病,IgG4 relatedDisease
57. 先天性胆汁酸合成障碍InbornErrors of Bile Acid Synthesis
58 . 异戊酸血症IsovalericAcidemia
59. 卡尔曼综合征KallmannSyndrome
60 . 朗格汉斯组织细胞增生症LangerhansCell Histiocytosis
61. 莱伦氏综合征Laron Svndrome
62 . Leber遗传性视神经病变LeberHereditary Optic Neuropathy
63. 长链3-羟酰基辅酶A脱氢酶缺乏症 Long Chain 3-hydroxyacy-CoADehydrogenase Deficiency
64.淋巴管肌瘤病Lymphangioleiomyomatosis(LAM)
65 . 赖氨酸尿蛋白不耐受症LysineUrinary Protein Intolerance
66.溶酶体酸性脂肪酶缺乏症Lysosomal AcidLipase Deficiency
67.枫糖尿症Maple Syrup UrineDisease
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MethylmalonicAcademia
72.线粒体脑肌病MitochodrialEncephalomyopathy
73 . 黏多糖贮积症Mucopolysaccharidosis
74. 多灶性运动神经病Multi-FocalMotor Neurothy
75. 多种酰基辅酶A脱氧酶缺乏症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MvotonicDystrophy
79 . N-乙酰谷氨酸合成酶缺乏症 NAGSDeficiency
80 . 新生儿糖尿病NeonatalDiabetes Mellitus
81. 视神经脊髓炎NeuromyelitisOptica.
82. 尼曼匹克病Niemann-PickDisease
83. 非综合征性耳聋Non-SyndromicDeafness
84. Noonan综合征Noonan Syndrome
85. 乌氨酸氨甲酰基转移酶缺乏症OrnithineTranscarbamylase Deficicncy.
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ParoxysmalNocturnal Hemoglobinuia
89. 黑斑息肉综合征Peut-JeghersSyndrome
90.苯丙酮尿症Phenylketouria
91. POEMS综合征POEMS Syndrome
92. 卟啉病Porpbyria
93. Prader-Willi综合征Prader-Willi Syndrome
94.原发性联合免疫缺陷Primary CombinedImmune Deficiency
95.原发性遗传性肌张力不全PrimaryHereditary Dystonia
96 .原发性轻链型淀粉样变PrimaryLight Chain Amyloidosis
97. 进行性家族性肝内胆汁淤积症ProgressiveFamilial Intrahepatic Cholestasis.
98. 进行性肌营养不良ProgressiveMuscular Dystrophies
99.丙酸血症Propionic Acidemia
100 .肺泡蛋白沉积症PulmonaryAlveolar Proteinosis
101 .肺囊性纤维化Pulmonary CysticFibrosis.
102.视网膜色素变性症RetinitisPigmentosa.
103.视网膜母细胞瘤Retinoblastoma
104.重症先天性粒细胞缺乏症SevereCongenital Neutropenia
105 .婴儿严重肌阵挛性癫痫(Dravet综合征)Severe Myoclonic Epilepsy In Infaricy (Dravet Syndrome)
106 . 镰刀型细胞贫血病Sickle CellDisease
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SpinalMuscular Atrophy
111.脊髓小脑性共济失调SpinocerebellarAtaxia
112. 系统性硬化症SystemicSclerosis
113.四氢生物蝶呤缺乏症TetrahydrobiopterinDeficiency
114 .结节性硬化症TuberousSclerosis 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WilliamsSyndrome
118.湿疹血小板减少伴免疫缺陷综合征 Wiskott-AldrichSyndrome
119 . x-连锁无丙种球蛋白血症X-linkedAgammaglobulinemia
120 . x-连锁肾上腺脑白质营养不良X-linkedLdrenoleuko Dystrophy
121. x-连锁淋巴增生症X-linkedLymphoproliferative Disease
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