第一批罕見病目錄

第一批罕見病目錄

序號中文名稱英文名稱121-羥化酶缺乏癥

21-HydroxylaseDeficiency2白化病Albinism3Alport

綜合征AlportSyndrome4肌萎縮側(cè)索硬化AmyotrophicLateralSclerosis5Angelman

氏癥候群（天使綜合征）AngelmanSyndrome6精氨酸酶缺乏癥ArginaseDeficiency7熱納綜合征（窒息性胸腔失養(yǎng)癥）AsphyxiatingThoracicDystrophy(JeuneSyndrome)8非典型溶血性尿毒癥AtypicalHemolyticUremicSyndrome9自身免疫性腦炎AutoimmuneEncephalitis10自身免疫性垂體炎AutoimmuneHypophysitis11自身免疫性胰島素受體病AutoimmuneInsulinReceptopathy(TypeBinsulinresistance)12β-酮硫解酶缺乏癥Beta-ketothiolaseDeficiency13生物素酶缺乏癥BiotinidaseDeficiency14心臟離子通道病CardicIonChannelopathies15原發(fā)性肉堿缺乏癥CarnitineDeficiency16Castleman病CastlemanDisease17腓骨肌萎縮癥Charcot-Marie-ToothDisease18瓜氨酸血癥Citrullinemia19先天性腎上腺發(fā)育不良CongenitalAdrenalHypoplasia20先天性高胰島素性低血糖血癥CongenitalHyperinsulinemicHypoglycemia21先天性肌無力綜合征CongenitalMyasthenicSyndrome22先天性肌強(qiáng)直（非營養(yǎng)不良性肌強(qiáng)直綜合征）CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)23先天性脊柱側(cè)彎CongenitalScoliosis24冠狀動(dòng)脈擴(kuò)張病CoronaryArteryEctasia25先天性純紅細(xì)胞再生障礙性貧血Diamond-BlackfanAnemia26Erdheim-Chester病Erdheim-ChesterDisease27法布雷病FabryDisease28家族性地中海熱FamilialMediterraneanFever29范可尼貧血FanconiAnemia30半乳糖血癥Galactosemia31戈謝病Gaucher’sDisease32全身型重癥肌無力GeneralizedMyastheniaGravis33Gitelman

綜合征GitelmanSyndrome34戊二酸血癥I型GlutaricAcidemiaTypeI35糖原累積?。↖型、Ⅱ型）GlycogenStorageDisease(TypeI、II）36血友病Hemophilia37肝豆?fàn)詈俗冃訦epatolenticularDegeneration(WilsonDisease)38遺傳性血管性水腫HereditaryAngioedema(HAE)39遺傳性大皰性表皮松解癥HereditaryEpidermolysisBullosa40遺傳性果糖不耐受癥HereditaryFructoseIntolerance41遺傳性低鎂血癥HereditaryHypomagnesemia42遺傳性多發(fā)腦梗死性癡呆HereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywithSubcorticalInfarctsandLeukoencephalopathy,CADASIL)43遺傳性痙攣性截癱HereditarySpasticParaplegia44全羧化酶合成酶缺乏癥HolocarboxylaseSynthetaseDeficiency45同型半胱氨酸血癥Homocysteinemia46純合子家族性高膽固醇血癥HomozygousHypercholesterolemia47亨廷頓舞蹈病HuntingtonDisease48HHH綜合征Hyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndrome49高苯丙氨酸血癥Hyperphenylalaninemia50低堿性磷酸酶血癥Hypophosphatasia51低磷性佝僂病HypophosphatemicRickets52特發(fā)性心肌病IdiopathicCardiomyopathy53特發(fā)性低促性腺激素性性腺功能減退癥IdiopathicHypogonadotropicHypogonadism54特發(fā)性肺動(dòng)脈高壓IdiopathicPulmonaryArterialHypertension55特發(fā)性肺纖維化IdiopathicPulmonaryFibrosis56IgG4相關(guān)性疾病IgG4relatedDisease57先天性膽汁酸合成障礙InbornErrorsofBileAcidSynthesis58異戊酸血癥IsovalericAcidemia59卡爾曼綜合征KallmannSyndrome60朗格漢斯組織細(xì)胞增生癥LangerhansCellHistiocytosis61萊倫氏綜合征LaronSyndrome62Leber遺傳性視神經(jīng)病變LeberHereditaryOpticNeuropathy63長鏈3-羥?；o酶A脫氫酶缺乏癥LongChain3-hydroxyacyl-CoADehydrogenaseDeficiency64淋巴管肌瘤病Lymphangioleiomyomatosis(LAM)65賴氨酸尿蛋白不耐受癥LysinuricProteinIntolerance66溶酶體酸性脂肪酶缺乏癥LysosomalAcidLipaseDeficiency67楓糖尿癥MapleSyrupUrineDisease68馬凡綜合征MarfanSyndrome69McCune-Albrigh綜合征McCune-AlbrightSyndrome70中鏈酰基輔酶A脫氫酶缺乏癥MediumChainAcyl-CoADehydrogenaseDeficiency71甲基丙二酸血癥MethylmalonicAcademia72線粒體腦肌病MitochodrialEncephalomyopathy73黏多糖貯積癥Mucopolysaccharidosis74多灶性運(yùn)動(dòng)神經(jīng)病MultifocalMotorNeuropathy75多種?；o酶A脫氫酶缺乏癥MultipleAcyl-CoADehydrogenaseDeficiency76多發(fā)性硬化MultipleSclerosis77多系統(tǒng)萎縮MultipleSystemAtrophy78肌強(qiáng)直性營養(yǎng)不良MyotonicDystrophy79N-乙酰谷氨酸合成酶缺乏癥N-acetylglutamateSynthaseDeficiency80新生兒糖尿病NeonatalDiabetesMellitus81視神經(jīng)脊髓炎NeuromyelitisOptica82尼曼匹克病Niemann-PickDisease83非綜合征性耳聾Non-SyndromicDeafness84Noonan綜合征NoonanSyndrome85鳥氨酸氨甲?；D(zhuǎn)移酶缺乏癥OrnithineTranscarbamylaseDeficiency86成骨不全癥（脆骨?。㎡steogenesisImperfecta(BrittleBoneDisease)87帕金森病（青年型、早發(fā)型）ParkinsonDisease(Young-onset,Early-onset)88陣發(fā)性睡眠性血紅蛋白尿ParoxysmalNocturnalHemoglobinuria89黑斑息肉綜合征Peutz-JeghersSyndrome90苯丙酮尿癥Phenylketonuria91POEMS綜合征POEMSSyndrome92卟啉病Porphyria93Prader-Willi綜合征Prader-WilliSyndrome94原發(fā)性聯(lián)合免疫缺陷PrimaryCombinedImmuneDeficiency95原發(fā)性遺傳性肌張力不全PrimaryHereditaryDystonia96原發(fā)性輕鏈型淀粉樣變PrimaryLightChainAmyloidosis97進(jìn)行性家族性肝內(nèi)膽汁淤積癥ProgressiveFamilialIntrahepaticCholestasis98進(jìn)行性肌營養(yǎng)不良ProgressiveMuscularDystrophy99丙酸血癥PropionicAcidemia100肺泡蛋白沉積癥PulmonaryAlveolarProteinosis101肺囊性纖維化PulmonaryCysticFibrosis102視網(wǎng)膜色素變性RetinitisPigmentosa103視網(wǎng)膜母細(xì)胞瘤Retinoblastoma104重癥先天性粒細(xì)胞缺乏癥

SevereCongenitalNeutropenia105嬰兒嚴(yán)重肌陣攣性癲癇(Dravet綜合征)SevereMyoclonicEpilepsyinInfancy(DravetSyndrome)106鐮刀型細(xì)胞貧血病SickleCellDisease107Silver-Russell綜合征Silver-RussellSyndrome108谷固醇血癥Sitosterolemia109脊髓延髓肌萎縮癥（肯尼迪?。㏒pinalandBulbarMuscularAtrophy(KennedyDisease)110脊髓性肌萎縮癥SpinalMuscularAtrophy111脊髓小腦性共濟(jì)失調(diào)SpinocerebellarAtaxia112系統(tǒng)性硬化癥SystemicSclerosis113四氫生物蝶呤缺乏癥TetrahydrobiopterinDeficiency114結(jié)節(jié)性硬化癥TuberousSclerosisComplex115原發(fā)性酪氨酸血癥Tyrosinemia116極長鏈?；o酶A脫氫酶缺乏癥VeryLongChainAcy