第一批及第二批罕见病目录.docx

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1、第一批罕见病目录（2018年发布）序号中文名称英文名称121-羟化酶缺乏症21-Hydroxyu1aseDeficiency2白化病A1binism3A1port综合征A1portSyndrome4肌萎缩侧索硬化Amyotrophic1atera1Sc1erosis5Ange1man氏症候群（天使综合征）Ange1manSyndrome6精氨酸酶缺乏症ArginaseDeficiency7热纳综合征（窒息性胸腔失养症）AsphyxiatingThoracicDystrophy(JeuneSyndrome)8非典型溶血性尿毒症Atypica1Hemo1yticUremicSyndrome9自身免

2、疫性脑炎AutoimmuneEncepha1itis10自身免疫性垂体炎AutoimmuneHypophysitis11自身免疫性胰岛素受体病AutoimmuneInsu1inReceptopathy(TypeBinsu1inresistance)12B-酮硫解酶缺乏症Beta-ketothio1aseDeficiency13生物素酶缺乏症BiotinidaseDeficiency14心脏离子通道病CardicIonChanne1opathies15原发性肉碱缺乏症CarnitineDeficiency16Cast1eman病Cast1emanDisease17腓骨肌萎缩症Charcot-Ma

3、rie-ToothDisease18瓜氨酸血症Citru11inemia19先天性肾上腺发育不良Congenita1Adrena1Hypop1asia20先天性高胰岛素性低血糖血症Congenita1Hyperinsu1inemicHypog1ycemia21先天性肌无力综合征Congenita1MyasthenicSyndrome22先天性肌强直（非营养不良性肌强直综合征）Congenita1MyotoniaSyndrome(Non-DystrophicMyotonia,NDM)23先天性脊柱侧弯Congenita1Sco1iosis24冠状动脉扩张病CoronaryArteryEctasi

4、a25先天性纯红细胞再生障碍性贫血Diamond-B1ackfanAnemia26Erdheim-Chester病Erdheim-ChesterDisease27法布雷病FabryDisease28家族性地中海热Fami1ia1MediterraneanFever29范可尼贫血FanconiAnemia30半乳糖血症Ga1actosemia31戈谢病GaucherzsDisease32全身型重症肌无力Genera1MyathenicGravis33Gite1man综合征Gite1manSyndrome34戊二酸血症I型G1utaricAcidemiaTypeI35糖原累积病（1型、型）G1yc

5、ogenStorageDisease(Type1、II)36血友病Hemophi1ia37肝豆状核变性Hepato1enticu1arDegeneration(Wi1sonDisease)38遗传性血管性水肿HereditaryAngioedema(HAE)39遗传性大疱性表皮松解症HereditaryEpidermo1ysisBu11osa40遗传性果糖不耐受症HereditaryFructoseInto1erance41遗传性低镁血症HereditaryHypomagnesemia42遗传性多发脑梗死性痴呆HereditaryMu1ti-infarctDementia(Cerebra1Au

6、tosoma1DominantArteriopathywithSubcortica1Infarctsand1eukoencepha1opathy,CADASI1)43遗传性痉挛性截瘫HereditarySpasticParap1egia44全残化酶合成酶缺乏症Ho1ocarboxy1aseSynthetaseDeficiency45同型半胱氨酸血症Homocysteinemia46纯合子家族性高胆固醇血症HomozygousHypercho1esteroIemia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperaminonaem

7、ia-Hhomocitru11inuriaSyndrome49高苯丙氨酸血症Hyperpheny1a1aninemia50低碱性磷酸酶血症Hypophosphatasia51低磷性佝偻病HypophosphatemicRickets52特发性心肌病IdiopathicCardiomyopathy53特发性低促性腺激素性性腺功能减退症IdiopathicHypogonadotropicHypogonadism54特发性肺动脉高压IdiopathicPu1monaryArteria1Hypertension55特发性肺纤维化IdiopathicPu1monaryFibrosis56IgG4相关性疾

8、病IgG4re1atedDisease57先天性胆汁酸合成障碍InbornErrorsofBi1eAcidSynthesis58异戊酸血症Isova1ericAcidemia59卡尔曼综合征Ka11mannSyndrome60朗格汉斯组织细胞增生症1angerhansCe11Histiocytosis61莱伦氏综合征1aronSyndrome621eber遗传性视神经病变1eberHereditaryOpticNeuropathy63长链3-羟酰基辅酶A脱氢酶缺乏症1ongChain3-hydroxyacy1-CoADehydrogenaseDeficiency64淋巴管肌瘤病1ymphang

9、io1eiomyomatosis(1AM)65赖氨酸尿蛋白不耐受症1ysineUrinaryProteinInto1erance66溶酶体酸性脂肪酶缺乏症1ysosoma1Acid1ipaseDeficiency67枫糖尿症Map1eSyrupUrineDisease68马凡综合征MarfanSyndrome69McCune-A1brigh综合征McCune-A1brightSyndrome70中链酰基辅酶A脱氢酶缺乏症MediumChainAcy1-CoADehydrogenaseDeficiency71甲基丙二酸血症Methy1ma1onicAcademia72线粒体脑肌病Mitochod

10、ria1Encepha1omyopathy73黏多糖贮积症Mucopo1ysaccharidosis74多灶性运动神经病Mu1ti-Foca1MotorNeurothy75多种酰基辅酶A脱氢酶缺乏症Mu1tip1eAcy1-CoADehydrogenaseDeficiency76多发性硬化Mu1tip1eSc1erosis77多系统萎缩Mu1tip1eSystemAtrophy78肌强直性营养不良MyotonicDystrophy79N-乙酰谷氨酸合成酶缺乏症NAGSDeficiency80新生儿糖尿病Neonata1DiabetesMe11itus81视神经脊髓炎Neuromye1itisO

11、ptica82尼曼匹克病Niemann-PickDisease83非综合征性耳聋Non-SyndromicDeafness84Noonan综合征NoonanSyndrome85鸟氨酸氨甲酰基转移酶缺乏症OrnithineTranscarbamy1aseDeficiency86成骨不全症（脆骨病）OsteogenesisImperfecta(Britt1eBoneDisease)87帕金森病（青年型、早发型）ParkinsonDisease(Young-onset,Ear1y-onset)88阵发性睡眠性血红蛋白尿Paroxysma1Nocturna1Hemog1obinuia89黑斑息肉综合征

12、Peutz-JeghersSyndrome90苯丙酮尿症Pheny1ketouria91POEMS综合征POEMSSyndrome92口卜咻病Porphyria93Prader-Wi11i综合征Prader-Wi11iSyndrome94原发性联合免疫缺陷PrimaryCombinedImmuneDeficiency95原发性遗传性肌张力不全PrimaryHereditaryDystonia96原发性轻链型淀粉样变Primary1ightChainAmy1oidosis97进行性家族性肝内胆汁淤积症ProgressiveFami1ia1IntrahepaticCho1estasis98进行性肌

13、营养不良ProgressiveMuscu1arDystrophyies99丙酸血症PropionicAcidemia100肺泡蛋白沉积症Pu1monaryA1veo1arProteinosis101肺囊性纤维化Pu1monaryCysticEibrosis102视网膜色素变性症RetinitisPigmentosa103视网膜母细胞瘤Retinob1astoma104重症先天性粒细胞缺乏症SevereCongenita1Neutropenia105婴儿严重肌阵挛性癫痫（Dravet综合征）SevereMyoc1onicEpi1epsyInInfaricy(DravetSyndrome)106镰

14、刀型细胞贫血病Sick1eCe11Disease107Si1ver-Russe11综合征Si1ver-Russe11Syndrome108谷固醇血症Sitostero1emia109脊髓延髓肌萎缩症（肯尼迪病）Spina1andBu1barMuscuIarAtrophy(KennedyDisease)110脊髓性肌萎缩症Spina1Muscu1arAtrophy111脊髓小脑性共济失调Spinocerebe11arAtaxia112系统性硬化症SystemicSc1erosis113四氢生物蝶吟缺乏症TetrahydrobiopterinDeficiency114结节性硬化症TuberousSc1erosisComp1ex115原发性酪氨酸血症Tyrosinemia116极长链酰基辅酶A脱氢酶缺乏症Very1ongChainAcy1-CoADehydrog