2018年度国家罕见病目录一览表

2018年国家罕见病目录一览表序号中文名称1 21-羟化酶缺乏症2 白化病3 Alport综合征4 肌萎缩侧索硬化Angelman氏症候群（天使5综合征）6 精氨酸酶缺乏症热纳综合征（窒息性胸腔失7养症）8 非典型溶血性尿毒症9 自身免疫性脑炎10 自身免疫性垂体炎11 自身免疫性胰岛素受体病12 快酮硫解酶缺乏症13 生物素酶缺乏症14 心脏离子通道病15 原发性肉碱缺乏症16 Castleman病17 腓骨肌萎缩症18 瓜氨酸血症19 先天性肾上腺发育不良先天性高胰岛素性低血糖20 血症

英文名称21-HydroxylaseDeficiencyAlbinismAlportSyndromeAmyotrophicLateralSclerosisAngelmanSyndromeArginaseDeficiencyAsphyxiatingThoracicDystrophy(JeuneSyndrome)AtypicalHemolyticUremicSyndromeAutoimmuneEncephalitisAutoimmuneHypophysitisAutoimmuneInsulinReceptopathy(TypeBinsulinresistance)Beta-ketothiolaseDeficiencyBiotinidaseDeficiencyCardicIonChannelopathiesCarnitineDeficiencyCastlemanDiseaseCharcot-Marie-ToothDiseaseCitrullinemiaCongenitalAdrenalHypoplasiaCongenitalHyperinsulinemicHypoglycemia开心快乐每一天21 先天性肌无力综合征先天性肌强直（非营养不良22性肌强直综合征）23 先天性脊柱侧弯24 冠状动脉扩张病先天性纯红细胞再生障碍25 性贫血26 Erdheim-Chester病27 法布雷病28 家族性地中海热29 范可尼贫血30 半乳糖血症31 戈谢病32 全身型重症肌无力33 Gitelman综合征34 戊二酸血症1型35 糖原累积病（1型、H型）6 病37 肝豆状核变性38 遗传性血管性水肿39 遗传性大疱性表皮松解症40 遗传性果糖不耐受症41 遗传性低镁血症42 遗传性多发脑梗死性痴呆43 遗传性痉挛性截瘫44 全羧化酶合成酶缺乏症

CongenitalMyasthenicSyndromeCongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)CongenitalScoliosisCoronaryArteryEctasiaDiamond-BlackfanAnemiaErdheim-ChesterDiseaseFabryDiseaseFamilialMediterraneanFeverFanconiAnemiaGalactosemiaGaucher'sDiseaseGeneralizedMyastheniaGravisGitelmanSyndromeGlutaricAcidemiaTypeIGlycogenStorageDisease(TypeI、II)HemophiliaHepatolenticularDegeneration(WilsonDisease)HereditaryAngioedema(HAE)HereditaryEpidermolysisBullosaHereditaryFructoseIntoleranceHereditaryHypomagnesemiaHereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywithSubcorticalInfarctsandLeukoencephalopathy,CADASIL)HereditarySpasticParaplegiaHolocarboxylaseSynthetaseDeficiency开心快乐每一天45 同型半胱氨酸血症46 纯合子家族性高胆固醇血症47 亨廷顿舞蹈病48 HHH综合征49 高苯丙氨酸血症50 低碱性磷酸酶血症51 低磷性佝偻病52 特发性心肌病特发性低促性腺激素性性53腺功能减退症54 特发性肺动脉高压55 特发性肺纤维化56 lgG4相关性疾病57 先天性胆汁酸合成障碍58 异戊酸血症59 卡尔曼综合征60 朗格汉斯组织细胞增生症61 莱伦氏综合征62 Leber遗传性视神经病变63 长链3-羟酰基辅酶A氢酶症64 淋巴管肌瘤病65 赖氨酸尿蛋白不耐受症66 溶酶体酸性脂肪酶缺乏症67 枫糖尿症68 马凡综合征

HomocysteinemiaHomozygousHypercholesterolemiaHuntingtonDiseaseHyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndromeHyperphenylalaninemiaHypophosphatasiaHypophosphatemicRicketsIdiopathicCardiomyopathyIdiopathicHypogonadotropicHypogonadismIdiopathicPulmonaryArterialHypertensionIdiopathicPulmonaryFibrosisIgG4relatedDiseaseInbornErrorsofBileAcidSynthesisIsovalericAcidemiaKallmannSyndromeLangerhansCellHistiocytosisLaronSyndromeLeberHereditaryOpticNeuropathyLongChain3-hydroxyacyl-CoADehydrogenaseDeficiencyLymphangioleiomyomatosis(LAM)LysinuricProteinIntoleranceLysosomalAcidLipaseDeficiencyMapleSyrupUrineDiseaseMarfanSyndrome开心快乐每一天69 McCune-Albrigh综合征中链酰基辅酶A脱氢酶缺70乏症71 甲基丙二酸血症72 线粒体脑肌病73 黏多糖贮积症74 多灶性运动神经病75 多种酰基辅酶A脱氢酶缺乏症76 多发性硬化77 多系统萎缩78 肌强直性营养不良N-乙酰谷氨酸合成酶缺乏79症80 新生儿糖尿病81 视神经脊髓炎82 尼曼匹克病83 非综合征性耳聋84 Noonan综合征鸟氨酸氨甲酰基转移酶缺85 乏症86 成骨不全症（脆骨病）

McCune-AlbrightSyndromeMediumChainAcyl-CoADehydrogenaseDeficiencyMethylmalonicAcademiaMitochodrialEncephalomyopathyMucopolysaccharidosisMultifocalMotorNeuropathyMultipleAcyl-CoADehydrogenaseDeficiencyMultipleSclerosisMultipleSystemAtrophyMyotonicDystrophyN-acetylglutamateSynthaseDeficiencyNeonatalDiabetesMellitusNeuromyelitisOpticaNiemann-PickDiseaseNon-SyndromicDeafnessNoonanSyndromeOrnithineTranscarbamylaseDeficiencyOsteogenesisImperfecta(BrittleBoneDisease)87 帕金森病（青年型、早发型）ParkinsonDisease(Young-onset,Early-onset)88 阵发性睡眠性血红蛋白尿89 黑斑息肉综合征90 苯丙酮尿症91 POEMS综合征

ParoxysmalNocturnalHemoglobinuriaPeutz-JeghersSyndromePhenylketonuriaPOEMSSyndrome开心快乐每一天92 卟啉病93 Prader-Willi综合征94 原发性联合免疫缺陷95 原发性遗传性肌张力不全96 原发性轻链型淀粉样变进行性家族性肝内胆汁淤97 积症98 进行性肌营养不良99 丙酸血症100 肺泡蛋白沉积症101 肺囊性纤维化102 视网膜色素变性103 视网膜母细胞瘤104 重症先天性粒细胞缺乏症婴儿严重肌阵挛性癫痫105（Dravet综合征）106 镰刀型细胞贫血病107 Silver-Russell综合征108 谷固醇血症脊髓延髓肌萎缩症（肯尼迪109病）110 脊髓性肌萎缩症111 脊髓小脑性共济失调112 系统性硬化症113 四氢生物蝶呤缺乏症114 结节性硬化症115 原发性酪氨酸血症

PorphyriaPrader-WilliSyndromePrimaryCombinedImmuneDeficiencyPrimaryHereditaryDystoniaPrimaryLightChainAmyloidosisProgressiveFamilialIntrahepaticCholestasisProgressiveMuscularDystrophyPropionicAcidemiaPulmonaryAlveolarProteinosisPulmonaryCysticFibrosisRetinitisPigmentosaRetinoblastomaSevereCongenitalNeutropeniaSevereMyoclonicEpilepsyinInfancy(DravetSyndrome)SickleCellDiseaseSilver-RussellSyndromeSitosterolemiaSpinalandBulbarMuscularAtrophy(KennedyDisease)SpinalMuscularAtrophySpinocerebellarAtaxiaSystemicSclerosisTetrahydrobiopterinDeficiencyTuberousSclerosisComplexTyrosinemia开心快乐每一天极长链酰基辅酶A脱氢酶116 缺乏症117 威廉姆斯综合征湿疹血小板减少伴免疫