 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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