2018年国家罕见病目录一览表

20182018年国家罕见病目录一览表序号 中文名称羟化酶缺乏症白化病Alport综合征肌萎缩侧索硬化

英文名称21-HydroxylaseDeficiencyAlbinismAlportSyndromeAmyotrophicLateralSclerosisAngelman氏症候群（天使AngelmanSyndrome综合征）精氨酸酶缺乏症 ArginaseDeficiency热纳综合征（窒息性胸腔失AsphyxiatingThoracicDystrophy7养症）(JeuneSyndrome)8非典型溶血性尿毒症AtypicalHemolyticUremicSyndrome9自身免疫性脑炎AutoimmuneEncephalitis10自身免疫性垂体炎AutoimmuneHypophysitis11自身免疫性胰岛素受体病AutoimmuneInsulinReceptopathy(TypeBinsulinresistance)12酮硫解酶缺乏症Beta-ketothiolaseDeficiency13生物素酶缺乏症BiotinidaseDeficiency14心脏离子通道病CardicIonChannelopathies15原发性肉碱缺乏症CarnitineDeficiency16Castleman病CastlemanDisease17腓骨肌萎缩症Charcot-Marie-ToothDisease18瓜氨酸血症Citrullinemia19先天性肾上腺发育不良CongenitalAdrenalHypoplasia先天性高胰岛素性低血糖CongenitalHyperinsulinemicHypoglycemia血症先天性肌无力综合征 CongenitalMyasthenicSyndrome先天性肌强直（非营养不良CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)性肌强直综合征）先天性脊柱侧弯冠状动脉扩张病

CongenitalScoliosisCoronaryArteryEctasia先天性纯红细胞再生障碍Diamond-BlackfanAnemia性贫血26Erdheim-Chester病Erdheim-ChesterDisease27法布雷病FabryDisease28家族性地中海热FamilialMediterraneanFever29范可尼贫血FanconiAnemia30半乳糖血症Galactosemia31戈谢病Gaucher’sDisease32全身型重症肌无力GeneralizedMyastheniaGravis33Gitelman综合征GitelmanSyndrome34戊二酸血症I型GlutaricAcidemiaTypeI35糖原累积病（I型、Ⅱ型）GlycogenStorageDisease(TypeI、II）36血友病Hemophilia37肝豆状核变性HepatolenticularDegeneration(WilsonDisease)38遗传性血管性水肿HereditaryAngioedema(HAE)39遗传性大疱性表皮松解症HereditaryEpidermolysisBullosa40遗传性果糖不耐受症HereditaryFructoseIntolerance41遗传性低镁血症HereditaryHypomagnesemia遗传性多发脑梗死性痴呆遗传性痉挛性截瘫全羧化酶合成酶缺乏症

HereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathySubcorticalInfarctsandLeukoencephalopathy,CADASIL)HereditarySpasticParaplegiaHolocarboxylaseSynthetaseDeficiency同型半胱氨酸血症 Homocysteinemia46纯合子家族性高胆固醇血症HomozygousHypercholesterolemia47亨廷顿舞蹈病HuntingtonDisease48HHH综合征Hyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndrome49高苯丙氨酸血症Hyperphenylalaninemia50低碱性磷酸酶血症Hypophosphatasia51低磷性佝偻病HypophosphatemicRickets52特发性心肌病IdiopathicCardiomyopathy特发性低促性腺激素性性53 IdiopathicHypogonadotropicHypogonadism腺功能减退症54特发性肺动脉高压IdiopathicPulmonaryArterialHypertension55特发性肺纤维化IdiopathicPulmonaryFibrosis56IgG4相关性疾病IgG4relatedDisease57先天性胆汁酸合成障碍InbornErrorsofBileAcidSynthesis58异戊酸血症IsovalericAcidemia59卡尔曼综合征KallmannSyndrome60朗格汉斯组织细胞增生症LangerhansCellHistiocytosis61莱伦氏综合征LaronSyndrome62Leber遗传性视神经病变LeberHereditaryOpticNeuropathy长链3-羟酰基辅酶A脱氢LongChain3-hydroxyacyl-CoADehydrogenaseDeficiency酶缺乏症淋巴管肌瘤病赖氨酸尿蛋白不耐受症溶酶体酸性脂肪酶缺乏症枫糖尿症马凡综合征

Lymphangioleiomyomatosis(LAM)LysinuricProteinIntoleranceLysosomalAcidLipaseDeficiencyMapleSyrupUrineDiseaseMarfanSyndromeMcCune-Albrigh综合征 McCune-AlbrightSyndrome中链酰基辅酶A脱氢酶缺MediumChainAcyl-CoADehydrogenaseDeficiency乏症71甲基丙二酸血症MethylmalonicAcademia72线粒体脑肌病MitochodrialEncephalomyopathy73黏多糖贮积症Mucopolysaccharidosis74多灶性运动神经病MultifocalMotorNeuropathy多种酰基辅酶A脱氢酶缺75 MultipleAcyl-CoADehydrogenaseDeficiency乏症76多发性硬化MultipleSclerosis77多系统萎缩MultipleSystemAtrophy78肌强直性营养不良MyotonicDystrophyN-乙酰谷氨酸合成酶缺乏79 N-acetylglutamateSynthaseDeficiency症80新生儿糖尿病NeonatalDiabetesMellitus81视神经脊髓炎NeuromyelitisOptica82尼曼匹克病Niemann-PickDisease83非综合征性耳聋Non-SyndromicDeafness84Noonan综合征NoonanSyndrome鸟氨酸氨甲酰基转移酶缺OrnithineTranscarbamylaseDeficiency乏症成骨不全症（脆骨病） OsteogenesisImperfecta(BrittleBoneDisease)（）ParkinsonDisease(Young-onsetEarly-onset)88阵发性睡眠性血红蛋白尿ParoxysmalNocturnalHemoglobinuria89黑斑息肉综合征Peutz-JeghersSyndrome90苯丙酮尿症Phenylketonuria91POEMS综合征POEMSSyndrome92卟啉病Porphyria93Prader-Willi综合征Prader-WilliSyndrome94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PrimaryLightChainAmyloidosis进行性家族性肝内胆汁淤97 ProgressiveFamilialIntrahepaticCholestasis积症98进行性肌营养不良ProgressiveMuscularDystrophy99丙酸血症PropionicAcidemia100肺泡蛋白沉积症PulmonaryAlveolarProteinosis101肺囊性纤维化PulmonaryCysticFibrosis102视网膜色素变性RetinitisPigmentosa103视网膜母细胞瘤Retinoblastoma104重症先天性粒细胞缺乏症SevereCongenitalNeutropenia婴儿严重肌阵挛性癫痫(Dravet综合征)106镰刀型细胞贫血病SickleCellDisease107Silver-Russell综合征Silver-RussellSyndrome108谷固醇血症Sitosterolemia105 Severe(Dravet综合征)106镰刀型细胞贫血病SickleCellDisease107Silver-Russell综合征Silver-RussellSyndrome108谷固醇血症Sitosterolemia脊髓延髓肌萎缩症（肯尼迪病）110脊髓性肌萎缩症SpinalMuscularAtrophy病）110脊髓性肌萎缩症SpinalMuscularAtrophy111脊髓小脑性共济失调SpinocerebellarAtaxia112系统性硬化症SystemicSclerosis113四氢生物蝶呤缺乏症TetrahydrobiopterinDeficiency114结节性硬化症TuberousSclerosisComplex115原发性酪氨酸血症Tyrosinemia116116极长链酰基辅酶A脱氢酶缺乏症VeryLongChainAc