第一二批罕见病目录.docx

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1、第一批罕见病目录序号中文名称英文名称121-羟化醉缺乏症2I-HydroxyIaseDeficiency2白化病A1binism3A1port综合征1portSyndrome4肌萎缩侧索硬化Amyotrophic1atera1Sc1erosis5Angc1nian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自身免疫性脑炎Autoim

2、muneEncepha1itis10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-Marie-ToothD

3、isease18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Congenita1Hyperinsu1inomicHypog1ycemia21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CoronaryArteryEctasia25先天性纯红细胞

4、再生障碍性贫血Diamond-B1ackfanAnemia26Erdhcim-Choster病Erdhcim-ChesterDisease27法布雷病FabryDisease28家族性地中海热Eami1ia1MediterraneanFever29范可尼贫血FanconiAnomia30半乳糖血症Ga1actosemia31戈谢病Gaucher*sDisease32全身型重症肌无力Genera1izedMyastheniaGravis33Gite1man综合征Gite1manSyndrome34戊二酸血症I型G1utaricAcidemiaTypeI35糖原累积病（I型、型）G1ycogenS

5、torageDisease(TypeI、II)36血友病Hemophi1ia37肝豆状核变性Hepato1cnticu1arDogcneration(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(Cerebra1Autosom

6、a1DominantArteriopathywithSubcortica1Infarctsand1eukoencepha1opathy,CADASI1)43遗传性痉挛性截瘫HereditarySpasticParap1egia44全竣化酶合成酶缺乏症Ho1ocarboxy1aseSynthetaseDeficiency45同型半胱氨酸血症Homocysteincmia46纯合子家族性高胆固醇血症HomozygousHypercho1estero1emia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperammonaemia-Hom

7、ocitru11inuriaSyndrome49高苯丙氨酸血症Hyperpheny1a1aninemia50低碱性磷酸酶血症Hypophosphatasia51低磷性佝偻病HypophosphatcmicRickets52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IdiopathicPu1monaryFibrosis561gG4相关性疾病1gG4re

8、1atedDisease57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1aronSyndrome621eberi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1ymphangio1eiomyoma

9、tosis(1AM)65赖氨酸尿蛋白不耐受症1ysinuricProteinInto1erance66溶晦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-CoADchydrogenaseDeficiency71甲基丙二酸血症Methy1ma1onicAcademia72线粒体脑肌病MitOchodria1Encepha1omy

10、opathy73黏多糖贮积症Mucopo1ysaccharidosis74多灶性运动神经病Mu1tifoca1MotorNeuropathy75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N-acetyIg1utamateSynthaseDeficiency80新生儿糖尿病Neonata1DiabetesMe11itus81视神经脊髓炎Neuromy

11、e1itisOptica82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柏金森病（青年型、早发型）ParkinsonDisease(Young-onset,Ear1y-onset)88阵发性睡眠性血红Paroxysma1Nocturna1Hemog1obinuria蛋白尿8

12、9黑斑息肉综合征Peutz-JoghersSyndrome90苯丙酮尿症Pheny1ketonuria91POEMS综合征POEMSSyndrome92吓啾病Porphyria93Prader-Wi11i综合征Prader-Wi11iSyndrome94原发性联合免疫缺陷PrimaryCombinedImmunoDeficiency95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ProgressiveFami1ia1IntrahcpaticCho1estas

13、is98进行性肌营养不良ProgressiveMuscu1arDystrophy99丙酸血症PropionicAcidemia100肺泡蛋白沉积症Pu1monaryA1veo1arProteinosis101肺囊性纤维化Pu1monaryCysticFibrosis102视网膜色素变性RetinitisPigmentosa103视网膜母细胞瘤Retinob1astoma104重症先天性粒细胞缺乏症SevereCongenita1Neutropenia105婴儿严重肌阵率性癫痫（Dravet综合征）SevereMyoc1onicEpi1epsyinInfancy(DravetSyndrome)1

14、06镰刀型细胞贫血病Sick1eCe11Disease107Si1ver-Russe11综合征Si1vcr-Russe11Syndrome108谷固醇血症Sitostero1emia109脊髓延髓肌萎缩症（肯尼迪病）Spina1andBu1barMuscu1arAtrophy(KennedyDisease)I1O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Very1