2018年國家罕見病目錄一覽表

1、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-hydroxylase deficiency2白化病albinism3alport綜合征alport syndrome4肌萎縮側索硬化amyotrophic lateral sclerosis5angelman氏癥候群（天使綜合征）angelman syndrome6精氨酸酶缺乏癥arginase deficiency7熱納綜合征（窒息性胸腔失asphyxiating thoracic dystrophy養(yǎng)癥）(jeune syndrome)8非典型溶血性尿毒癥atypical hemolytic uremic syn

2、drome9自身免疫性腦炎autoimmune encephalitis10自身免疫性垂體炎autoimmune hypophysitis11自身免疫性胰島素受體病autoimmune insulin receptopathy (type b insulin resistance)12伊酮硫解酶缺乏癥beta-ketothiolase deficiency13生物素酶缺乏癥biotinidase deficiency14心臟離子通道病cardic ion channelopathies15原發(fā)性肉堿缺乏癥carnitine deficiency16castleman 病castleman di

3、sease17腓骨肌萎縮癥charcot-marie-tooth disease18瓜氨酸血癥citrullinemia19先天性腎上腺發(fā)育不良congenital adrenal hypoplasia20先天性高胰島素性低血糖血癥congenital hyperinsulinemic hypoglycemia21先天性肌無力綜合征congenital myasthenic syndrome22先天性肌強直（非營養(yǎng)不良性肌強直綜合征）congenital myotonia syndrome (non-dystrophic myotonia, ndm)23先天性脊柱側彎congenital sc

4、oliosis24冠狀動脈擴張病coronary artery ectasia25先天性純紅細胞再生障礙性貧血diamond-blackfan anemia26erdheim-chester 病erdheim-chester disease27法布雷病fabry disease28家族性地中海熱familial mediterranean fever29范可尼貧血fanconi anemia30半乳糖血癥galactosemia31戈謝病gaucher s disease32全身型重癥肌無力generalized myasthenia gravis33gitelman綜合征gitelman s

5、yndrome34戊二酸血癥i型glutaric acidemia type i35糖原累積?。╥型、n型）glycogen storage disease (type i 、ii)36血友病hemophilia37肝豆狀核變性hepatolenticular degeneration(wilson disease)38遺傳性血管性水腫hereditary angioedema (hae)39遺傳性大皰性表皮松解癥hereditary epidermolysis bullosa40遺傳性果糖不耐受癥hereditary fructose intolerance41遺傳性低鎂血癥heredita

6、ry hypomagnesemia42遺傳性多發(fā)腦梗死性癡呆hereditary multi-infarct dementia (cerebral autosomal dominant arteriopathy withsubcortical infarcts and leukoencephalopathy, cadasil)43遺傳性痙攣性截癱hereditary spastic paraplegia44全竣化酶合成酶缺乏癥holocarboxylase synthetase deficiency45同型半胱氨酸血癥homocysteinemia46純合子家族性高膽固醇血癥homozygou

7、s hypercholesterolemia47亨廷頓舞蹈病huntington disease48hhh綜合征hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome49高苯丙氨酸血癥hyperphenylalaninemia50低堿性磷酸酶血癥hypophosphatasia51低磷性佝僂病hypophosphatemic rickets52特發(fā)性心肌病idiopathic cardiomyopathy53特發(fā)性低促性腺激素性性腺功能減退癥idiopathic hypogonadotropic hypogonadism54特

8、發(fā)性肺動脈高壓idiopathic pulmonary arterial hypertension55特發(fā)性肺纖維化idiopathic pulmonary fibrosis56igg4相關性疾病igg4 related disease57先天性膽汁酸合成障礙inborn errors of bile acid synthesis58異戊酸血癥isovaleric acidemia59卡爾曼綜合征kallmann syndrome60朗格漢斯組織細胞增生癥langerhans cell histiocytosis61萊倫氏綜合征laron syndrome62leber遺傳性視神經(jīng)病變lebe

9、r hereditary optic neuropathy63長41 3-羥?；o酶a脫氫酶缺乏癥long chain 3-hydroxyacyl-coa dehydrogenase deficiency64淋巴管肌瘤病lymphangioleiomyomatosis (lam)65賴氨酸尿蛋白不耐受癥lysinuric protein intolerance66溶酶體酸性脂肪酶缺乏癥lysosomal acid lipase deficiency67楓糖尿癥maple syrup urine disease68馬凡綜合征marfan syndrome69mccune-albrigh 綜合征m

10、ccune-albright syndrome70中鏈?；o酶a脫氫酶缺乏癥medium chain acyl-coa dehydrogenase deficiency71甲基丙二酸血癥methylmalonic academia72線粒體腦肌病mitochodrial encephalomyopathy73黏多糖貯積癥mucopolysaccharidosis74多灶性運動神經(jīng)病multifocal motor neuropathy75多種酰基輔酶a脫氫酶缺乏癥multiple acyl-coa dehydrogenase deficiency76多發(fā)性硬化multiple sclerosi

11、s77多系統(tǒng)萎縮multiple system atrophy78肌強直性營養(yǎng)不良myotonic dystrophy79n-乙酰谷氨酸合成酶缺乏癥n-acetylglutamate synthase deficiency80新生兒糖尿病neonatal diabetes mellitus81視神經(jīng)脊髓炎neuromyelitis optica82尼曼匹克病niemann-pick disease83非綜合征性耳聾non-syndromic deafness84noonan綜合征noonan syndrome85鳥氨酸氨甲?；D移酶缺乏癥ornithine transcarbamylase d

12、eficiency86成骨不全癥（脆骨病）osteogenesis imperfecta (brittle bone disease)87帕金森?。ㄇ嗄晷汀⒃绨l(fā)型）parkinson disease (young-onset , early-onset)88陣發(fā)性睡眠性血紅蛋白尿paroxysmal nocturnal hemoglobinuria89黑斑息肉綜合征peutz-jeghers syndrome90苯丙酮尿癥phenylketonuria91poems綜合征poems syndrome92嚇咻病porphyria93prader-willi 綜合征prader-willi syn

13、drome94原發(fā)性聯(lián)合免疫缺陷primary combined immune deficiency95原發(fā)性遺傳性肌張力不全primary hereditary dystonia96原發(fā)性輕鏈型淀粉樣變primary light chain amyloidosis97進行性家族性肝內(nèi)膽汁淤積癥progressive familial intrahepatic cholestasis98進行性肌營養(yǎng)不良progressive muscular dystrophy99丙酸血癥propionic acidemia100肺泡蛋白沉積癥pulmonary alveolar proteinosis101

14、肺囊性纖維化pulmonary cystic fibrosis102視網(wǎng)膜色素變性retinitis pigmentosa103視網(wǎng)膜母細胞瘤retinoblastoma104重癥先天性粒細胞缺乏癥severe congenital neutropenia105嬰兒嚴重肌陣攣性癲癇（dravet綜合征）severe myoclonic epilepsy in infancy (dravet syndrome)106鐮刀型細胞貧血病sickle cell disease107silver-russell 綜合征silver-russell syndrome108谷固醇血癥sitosterolem

15、ia109脊髓延髓肌萎縮癥（肯尼迪 ?。﹕pinal and bulbar muscular atrophy (kennedy disease)110脊髓性肌萎縮癥spinal muscular atrophy111脊髓小腦性共濟失調spinocerebellar ataxia112系統(tǒng)性硬化癥systemic sclerosis113四氫生物蝶吟缺乏癥tetrahydrobiopterin deficiency114結節(jié)性硬化癥tuberous sclerosis complex115原發(fā)性酪氨酸血癥tyrosinemia116117極長鏈酰基輔酶a脫氫酶缺乏癥威廉姆斯綜合征very lon