2018年國(guó)家罕見(jiàn)病目錄一覽表

2018年國(guó)家罕見(jiàn)病目錄一覽表序號(hào)中文名稱(chēng)英文名稱(chēng)121-羥化酶缺乏癥21-Hydroxylase Deficiency2白化病Albinism3Alport 綜合征Alport Syndrome4肌萎縮側(cè)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（窒息性胸腔失養(yǎng)癥）Asphyxiating Thoracic Dystrophy(Jeune Syndrome)8非典型溶血性尿毒癥Atypical Hemolytic Uremic Syndrome9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-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 Disease17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(wú)力綜合征Congenital Myasthenic Syndrome22先天性肌強(qiáng)直（非營(yíng)養(yǎng)不良性肌強(qiáng)直綜合征）Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)23先天性脊柱側(cè)彎Congenital Scoliosis24冠狀動(dòng)脈擴(kuò)張病Coronary Artery Ectasia25先天性純紅細(xì)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Gauchers Disease32全身型重癥肌無(wú)力Generalized Myasthenia Gravis33Gitelman綜合征Gitelman Syndrome34戊二酸血癥I型Glutaric Acidemia Type I35糖原累積病（I型、型）Glycogen Storage Disease (Type I、II）36血友病Hemophilia37肝豆?fàn)詈俗冃訦epatolenticular 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Hereditary Hypomagnesemia42遺傳性多發(fā)腦梗死性癡呆Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL)43遺傳性痙攣性截癱Hereditary Spastic Paraplegia44全羧化酶合成酶缺乏癥Holocarboxylase Synthetase Deficiency45同型半胱氨酸血癥Homocysteinemia46純合子家族性高膽固醇血癥Homozygous 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特發(fā)性肺動(dòng)脈高壓Idiopathic Pulmonary Arterial Hypertension55特發(fā)性肺纖維化Idiopathic Pulmonary Fibrosis56IgG4相關(guān)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(xì)胞增生癥Langerhans Cell Histiocytosis61萊倫氏綜合征Laron Syndrome62Leber遺傳性視神經(jīng)病變Leber Hereditary Optic Neuropathy63長(zhǎng)鏈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(lài)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McCune-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(yùn)動(dòng)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 Sclerosis77多系統(tǒng)萎縮Multiple System Atrophy78肌強(qiáng)直性營(yíng)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(niǎo)氨酸氨甲?；D(zhuǎn)移酶缺乏癥Ornithine Transcarbamylase Deficiency86成骨不全癥（脆骨?。㎡steogenesis Imperfecta (Brittle Bone Disease)87帕金森病（青年型、早發(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卟啉病Porphyria93Prader-Willi綜合征Prader-Willi Syndrome94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(jìn)行性家族性肝內(nèi)膽汁淤積癥Progressive Familial Intrahepatic Cholestasis98進(jìn)行性肌營(yíng)養(yǎng)不良Progressive Muscular Dystrophy99丙酸血癥Propionic Acidemia100肺泡蛋白沉積癥Pulmonary Alveolar Proteinosis101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(xì)胞瘤Retinoblastoma104重癥先天性粒細(xì)胞缺乏癥Severe Congenital Neutropenia105嬰兒嚴(yán)重肌陣攣性癲癇(Dravet綜合征)Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)106鐮刀型細(xì)胞貧血病Sickle Cell Disease107Silver-Russell綜合征Silver-Russell Syndrome108谷固醇血癥Sitosterolemia109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(jì)失調(diào)Spinocerebellar Ataxia112系統(tǒng)性硬化癥Systemic Sclerosis113四氫生物蝶呤缺乏癥Tetrahydrobiopterin Deficiency114結(jié)節(jié)性硬化癥Tuberous Sclerosis Complex115原發(fā)性酪氨酸血癥Tyrosinemia116極長(zhǎng)鏈?；o酶A脫氫酶缺乏癥Very Long Chain Ac