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 Apot综合征4 肌萎缩侧索硬化

英文名称21-HydroxylaseDeficiencyAlbinismAlportSyndromeAmyotrophicLateralSclerosis5

Angelman?氏症候（天使AngelmanSyndrome综合征）6 精氨酸酶缺乏症 ArginaseDeficiency7

热纳综合（窒息性胸腔失AsphyxiatingThoracicDystrophy养症） (Jeuneyndrome)891011121314151617181920

非典型溶血性尿毒症自身免疫性脑炎自身免疫性垂体炎自身免疫性胰岛素受体病β-酮硫解酶缺症生物素酶缺乏症心脏离子通道病原发性肉碱缺乏症Castleman病腓骨肌萎缩症瓜氨酸血症先天性肾上腺发育不良先天性高胰岛素性低血糖血症

AtypicalHemolyticUremicSyndromeAutoimmunencephalitisAutoimmuneHypophysitisAutoimmunensulineceptopathy(TypeBinsulinresistance)Beta-ketothiolaseDeficiencyBiotinidaseDeficiencyCardicIonChannelopathiesCarnitineDeficiencyCastlemanDiseaseCharcot-Marie-ToothDiseaseCitrullinemiaCongenitalAdrenalHypoplasiaCongenitalHyperinsulinemicHypoglycemia21 先天性肌无力综合征 Congenital22

先天性肌强（非营养不良CongenitalNDM)性肌强直综合征）23242526272829303132333435363738394041424344

先天性脊柱侧弯冠状动脉扩张病先天性纯红细胞再生障碍性贫血Erdheim-Chester病法布雷病家族性地中海热范可尼贫血半乳糖血症戈谢病全身型重症肌无力Gitelman?综合征戊二酸血症I型糖原累积病I型、Ⅱ型）血友病肝豆状核变性遗传性血管性水肿遗传性大疱性表皮松解症遗传性果糖不耐受症遗传性低镁血症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

CongenitalScoliosisEctasiaDiamond-BlackfanAnemiaErdheim-ChesterDiseaseDiseaseFamilialMediterraneanFeverFanconiAnemiaGalactosemiaGauche’sDGravisGitelmanGlutaricAcidemiaIStorageDiseaseI、II）HemophiliaHepatolenticularDegeneration(WilsonDisease)Angioedema(HAE)BullosaFructoseIntoleranceMultiinfarctDementia(CerebralAutosomalDominantithSubcorticalIfarctsandCADASIL)SpasticParaplegia454647484950515253545556575859606162636465666768

同型半胱氨酸血症纯合子家族性高胆固醇血症亨廷顿舞蹈病HH合征高苯丙氨酸血症低碱性磷酸酶血症低磷性佝偻病特发性心肌病特发性低促性腺激素性性腺功能减退症特发性肺动脉高压特发性肺纤维化IG4相关性疾病先天性胆汁酸合成障碍异戊酸血症卡尔曼综合征朗格汉斯组织细胞增生症莱伦氏综合征Lber遗传性视神经病变长链3-酰基辅酶A氢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

HomocysteinemiaHomozygousHypercholesterolmiaHuntingtonDiseaseHyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndromeHyperphenylalaninemiaHypophosphatasiaHypophosphatemicRicketsIdipathicCardiomyopathyIdiopathicHypogonadotropicHypogonadismIdiopathicPulmonaryrterialHypertensionIdiopathicPulmonaryFibrosisIgG4relatedDiseaseInbornErrorsfBileAcidynthesisIsovalricAcidemiaKallmannyndromeLangerhansCellHistiocytosisLaronSyndromeLeberHereditaryOpticNeuropathyLongChain3-hydroxyacyl-CoADehydrogenaseDeficiencyLymphangioleiomyomatosis(LAM)LysinuricProteinIntoleranceLysosomalAcidLipaseDeficiencyMapleSyrupUrineDiseaseMarfanSyndrome697071727374757677787980818283848586

McCune-Albrigh综合征中链酰基辅酶A脱氢酶缺乏症甲基丙二酸血症线粒体脑肌病黏多糖贮积症多灶性运动神经病多种酰基辅酶A脱氢酶缺乏症多发性硬化多系统萎缩肌强直性营养不良N-乙酰谷氨酸合成酶缺乏症新生儿糖尿病视神经脊髓炎尼曼匹克病非综合征性耳聋ooan综合征鸟氨酸氨甲酰基转移酶缺乏症成骨不全症（脆骨病）

McCune-AlbrightSyndromeMediumChainAcyl-CoADehydrogenaseDeficiencyMethylmalonicAcademiaMitochodrialEncephalomyopathyMucopolysaccharidosisMultifocalMotorNeuropathyMultipleAcyl-CoADehydrogenaseDeficiencyMultipleSclerosisMultipleSystemAtrophyMyotonicystrophyN-acetylglutamateSynthaseDeficiencyNeonatalDiabetesMellitusNeuromyelitisOpticaNiemann-PickiseaseNon-SyndromicDeafnessNoonanSyndromeOrnithineTranscarbamylaseDeficiencyOsteogenesisImperfecta(BritteBoneDisease)87 帕金森（青年型早）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 POES合征

ParoxysmalNocturalHemoglobinuriaPeutz-JeghersSyndromePhenylketonuriaPOEMSSyndrme9293949596979899100101102103104105106107108

卟啉病Prader-Willi合征原发性联合免疫缺陷原发性遗传性肌张力不全原发性轻链型淀粉样变进行性家族性肝内胆汁淤积症进行性肌营养不良丙酸血症肺泡蛋白沉积症肺囊性纤维化视网膜色素变性视网膜母细胞瘤重症先天性粒细胞缺乏症婴儿严重肌阵挛性癫痫rvt综合征)镰刀型细胞贫血病Silver-Russell合征谷固醇血症

PorphyraPrader-WilliSyndromePrimaryCombinedImmuneDeficiencyPrimaryHereditaryDystoniaPrimaryLightChainAmyloidosisProgressiveFamilialIntrahepaticCholestasisProgressiveMuscularDystrophyPropionicAcidemiaPulmonarylveolarProteinosisPulmonaryCysticFibrosisRetinitisPigmentosaRetinoblastomaSevereCongenitalNeutropeniaSevereMyoclonicpilepsyinInfancyDravetSyndrome)SickleCellDiseaseSilver-RussellSyndromeSitsterolemia109

脊髓延髓肌萎缩（肯尼迪SpinalandBulbarMuscularAtrophy(KennedyDisease)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

SpinalMuscularAtrophySpinocerebellarAtaxiaSystemicclerosisTetrahydrobiopterinDeficiencyTuberousclerosisComplexTyrosinemia116117118119120121

极长链酰基辅酶A脱氢酶缺乏症威廉姆斯综合征湿疹血小板减少伴