專業資料專業資料2018年國家罕見病目錄一覽表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肌萎縮側索硬化AmyotrophicLateralSclerosisAngelman氏癥候群（天使5AngelmanSyndrome綜合征）6精氨酸酶缺之癥ArginaseDeficiencyAsphyxiatingThoracicDystrophy熱納綜合征（窒息性胸腔失7養癥）(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AutoimmuneHypophysitisAutoimmuneInsulinReceptopathy11自身免疫性胰島素受體病(TypeBinsulinresistanee)120-酮硫解酶缺乏癥Beta-ketothiolaseDeficiency13生物素酶缺之癥BiotinidaseDeficiency14心臟離子通道病CardicIonChannelopathies15原發性肉堿缺乏癥CarnitineDeficiency16Castleman病CastlemanDisease17腓骨肌萎縮癥Charcot-Marie-ToothDisease18瓜氨酸血癥Citrullinemia19先天性腎上腺發育不良CongenitalAdrenalHypoplasia先天性高胰島素性低血糖20CongenitalHyperinsulinemicHypoglycemia血癥

21先天性肌無力綜合征CongenitalMyasthenicSyndrome22先天性肌強直（非營養不良性肌強直綜合征）CongenitalMyotoniaSyndrome(Non-DystrophicMyotonia,NDM)23先天性脊柱側彎CongenitalScoliosis24冠狀動脈擴張病CoronaryArteryEctasia25先天性純紅細胞再生障礙性貧血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1型GlutaricAcidemiaTypeI35糖原累積病（1型、II型）GlycogenStorageDisease(TypeI、II)36血友病Hemophilia37肝豆狀核變性HepatolenticularDegeneration(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HereditaryFructoseIntoleranee41遺傳性低鎂血癥HereditaryHypomagnesemiaHereditaryMulti-infarctDementia(CerebralAutosomalDominantArteriopathywith42遺傳性多發腦梗死性癡呆SubcorticalInfarctsandLeukoencephalopathy,CADASIL)43遺傳性痙攣性截癱HereditarySpasticParaplegia44全羧化酶合成酶缺乏癥HolocarboxylaseSynthetaseDeficiency

45同型半胱氨酸血癥Homocysteinemia純合子家族性高膽固醇血46癥HomozygousHypercholesterolemia47亨廷頓舞蹈病HuntingtonDisease48HHH綜合征Hyperornithinaemia-Hyperammonaemia-HomocitrullinuriaSyndrome49Hyperphenylalaninemia咼苯丙氨酸血癥50低堿性磷酸酶血癥Hypophosphatasia51低磷性佝僂病HypophosphatemicRickets52特發性心肌病IdiopathicCardiomyopathy特發性低促性腺激素性性53腺功能減退癥IdiopathicHypogonadotropicHypogonadism54特發性肺動脈高壓IdiopathicPulmonaryArterialHypertension55特發性肺纖維化IdiopathicPulmonaryFibrosis56lgG4相關性疾病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朗格漢斯組織細胞增生癥LangerhansCellHistiocytosis61萊倫氏綜合征LaronSyndrome62Leber遺傳性視神經病變LeberHereditaryOpticNeuropathy長鏈3-羥酰基輔酶A脫氫63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LysinuricProteinIntoleranee66溶酶體酸性脂肪酶缺乏癥LysosomalAcidLipaseDeficiency67楓糖尿癥MapleSyrupUrineDisease68馬凡綜合征MarfanSyndrome

69McCune-Albrigh綜合征McCune-AlbrightSyndrome中鏈酰基輔酶A脫氫酶缺70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多灶性運動神經病MultifocalMotorNeuropathy多種酰基輔酶A脫氫酶缺75乏癥MultipleAcyl-CoADehydrogenaseDeficiency76多發性硬化MultipleSclerosis77多系統萎縮MultipleSystemAtrophy78肌強直性營養不良MyotonicDystrophyN-乙酰谷氨酸合成酶缺之79癥N-acetylglutamateSynthaseDeficiency80新生兒糖尿病NeonatalDiabetesMellitus81視神經脊髓炎NeuromyelitisOptica82尼曼匹克病Niemann-PickDisease83非綜合征性耳聾Non-SyndromicDeafness84Noonan綜合征NoonanSyndrome鳥氨酸氨甲酰基轉移酶缺85乏癥OrnithineTranscarbamylaseDeficiency86成骨不全癥（脆骨病）OsteogenesisImperfecta(BrittleBoneDisease)87帕金森病（青年型、早發型）ParkinsonDisease(Young-onset,Early-onset)88陣發性睡眠性血紅蛋白尿ParoxysmalNocturnalHemoglobinuria89黑斑息肉綜合征Peutz-JeghersSyndrome90苯丙酮尿癥PhenyIketonuria91POEMS綜合征POEMSSyndrome

92卟啉病Porphyria93Prader-Willi綜合征Prader-WilliSyndrome94原發性聯合免疫缺陷PrimaryCombinedImmuneDeficiency95原發性遺傳性肌張力不全PrimaryHereditaryDystonia96原發性輕鏈型淀粉樣變PrimaryLightChainAmyloidosis97進行性家族性肝內膽汁淤積癥ProgressiveFamilialIntrahepaticCholestasis98進行性肌營養不良ProgressiveMuscularDystrophy99丙酸血癥PropionicAcidemia100肺泡蛋白沉積癥PulmonaryAlveolarProteinosis101肺囊性纖維化PulmonaryCysticFibrosis102視網膜色素變性RetinitisPigmentosa103視網膜母細胞瘤Retinoblastoma104重癥先天性粒細胞缺之癥SevereCongenitalNeutropenia105嬰兒嚴重肌陣攣性癲癇（Dravet綜合征）SevereMyoclonicEpilepsyinInfancy(DravetSyndrome)106鐮刀型細胞貧血病SickleCellDisease107Silver-Russell綜合征Silver-RussellSyndrome108谷固醇血癥Sitosterolemia109脊髓延髓肌萎縮癥（肯尼迪病）SpinalandBulbarMuscularAtrophy(KennedyDisease)110脊髓性肌萎縮癥SpinalMuscularAtrophy111脊髓小腦性共濟失調SpinocerebellarAtaxia112系統性硬化癥SystemicSclerosis113四氫生物蝶吟缺乏癥TetrahydrobiopterinDeficiency114結節性硬化癥TuberousSclerosisComplex115原發性酪氨酸血癥Tyrosinemia

極長鏈酰基輔酶A脫氫酶116VeryLongChainAcyl-CoADe