新增罕見疾病名單

公告之罕見疾病彙總表 附件 2 106/10/25 A. 先天性代謝異常 A1 尿素循環代謝異常 Urea cycle disorders ( 高血氨症 ) A1 01 先天性尿素循環代謝障礙 Congenital Urea cycle disorders E72.20 02 瓜胺酸血症 Citrullinemia E72.23 乙醯榖胺酸合成酶缺乏症 Nitroacetylglutamate synthetase deficiency,nag synthetase deficiency E72.29 04 05 鳥胺酸氨甲醯基轉移酶缺乏症 高鳥胺酸血症 - 高氨血症 - 高瓜胺酸血症症候群 Ornithine transcarbamylase deficiency Hyperornithinemia- Hyperammonemia- Homocitrullinuria Syndrome E72.4 E72.4 A2 胺基酸 / 有機酸代謝異常 Amino acid metabolic disorders / Organic acidemias A2 01 胺基酸代謝疾病 Amino acid metabolic disorders(aminoacidopathies) E72.8 02 高胱胺酸血症 Homocystinuria E72.11 高甲硫胺酸血症 Hypermethioninemia E72.19 04 非酮性高甘胺酸血症 Nonketotic hyperglycinemia E72.51 05 苯酮尿症 Phenylketouria E70.0 06 四氫基喋呤缺乏症 Tetrahydrobiopterin deficiency E70.1 07 遺傳性高酪胺酸血症 Hereditary tyrosinemia E70.21 08 楓糖尿症 Maple syrup urine disease E71.0 09 有機酸血症 Organic acidemias E71.118 10 異戊酸血症 Isovaleric academia E71.110 11 戊二酸尿症, 第一型 第二型 Glutaric aciduria type Ⅰ Ⅱ type I:E72.3 type11:e71.313 12 丙酸血症 Propionic academia E71.121 13 甲基丙二酸血症 Methylmalonic acidemia E71.120 14 3- 氫基 -3- 甲基戊二酸血症 3-Hydroxy-3-methyl-glutaric acidemia E71.118

15 典型苯酮尿症合併蔗糖酶同麥芽糖酶缺乏症 PAH type PKU combine with Sucrase-isomaltase deficiency E74.31+E70.0 16 高離氨基酸血症 Hyperlysinemia E72.3 17 組胺酸血症 Histidinemia E70.41 18 三甲基巴豆醯輔酶 A 羧化酵素缺乏症 3-Methylcrotonyl-CoA carboxylase deficiency E71.19 19 多發性羧化酶缺乏症 Multiple carboxylase deficiency D81.819 20 高脯胺酸血症 Hyperprolinemia E72.59 21 芳香族 L- 胺基酸類脫羧基酶缺乏症 Aromatic L-amino acid decarboxylase deficiency E70.9 22 酪胺酸羥化酶缺乏症 Tyrosine hydroxylase deficiency E70.20 A3 脂質儲積 A3 01 高雪氏症 Gaucher s disease E75.22 02 GM1/GM2 神經節苷脂儲積症 GM1/GM2 gangliosidosis GM1:E75.19 GM2: E75.00 Fabry 氏症 Fabry disease E75.21 04 Niemann-Pick 氏症, 鞘髓磷脂儲積症 Niemann-Pick disease E75.240:Type A E75.241:Type B E75.242:Type C E75.243:Type D E75.248:other E75.249:unspecified 05 MLD 症候群 06 球細胞腦白質失養症 07 Metachromatic Leukodystrophy (MLD) Globoid Cell Leukodystrophy (Krabbe s disease) E75.25 E75.23 嬰兒型溶酶體酸性脂肪酶 Infantile form Lysosomal Acid 缺乏症 ( 又稱伍爾曼氏 Lipase Deficiency ( Wolman E75.5 症 ) Disease) A4 碳水化合物代謝異常 A4 01 半乳糖血症 Galactosemia E74.21 02 肝醣儲積症 Glycogen storage disease E74.09:type 0 E74.01:Type I E74.02:type II E74.:type III E74.09:type IV E74.04:type V E74.09:type VI-XI E74.01:Von Gierke's

腦血管屏障葡萄糖輸送缺陷 Glut ( Glucose Transport ) 1 deficiency syndrome E74.8 A5 脂肪酸氧化異常 01 脂肪酸氧化作用缺陷 Fatty acid oxidation defect 02 原發性肉鹼缺乏症 中鏈脂肪酸去氫酵素缺乏症 04 短鏈脂肪酸去氫酶缺乏症 E71.30 E71.310 E71.311 E71.312 E71.313 Carnitine deficiency syndrome, primary E71.41 Medium-chain acyl-coenzyme A dehydrogenase deficiency E71.311 (MCAD) Short-chain acyl-coa dehydrogenase deficiency E71.312 E71.314 E71.318 E71.32 E71.39 A6 粒線體代謝異常 A6 01 粒線體缺陷 Mitochondrial defect E88.40 02 Kearns-Sayre 氏症候群 Kearns-Sayre syndrome H49.811 H49.812 H49.813 H49.819 Leigh 氏童年期腦脊髓病變 Leigh disease G31.82 04 MELAS 症候群 MELAS E88.41 05 MNGIE 症候群粒線體性神經胃腸腦病變症候群 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome E88.89 06 丙酮酸鹽脫氫酶缺乏症 Pyruvate dehydrogenase deficiency E74.4 07 巴氏症候群 Barth Syndrome E78.71 A7 溶小體代謝異常 A7 01 胱胺酸血症 Cystinosis E72.04 02 黏多醣症 Mucopolysaccharidoses 岩藻糖代謝異常 ( 儲積症 ) Fucosidosis E77.1 04 涎酸酵素缺乏症 Sialidosis E77.1 Type1: E76.01 E76.02 E76. Type2:E76.1 other: E76.210 E76.211 E76.219 E76.22 E76.29 Unspecified:E76.3

05 黏脂質症 Mucolipidosis type I:E77.1 type II III:E77.0 type IV:E75.11 06 神經元蠟樣脂褐質儲積症 Neuronal ceroid lipofuscinosis E75.4 07 多發性硫酸脂酶缺乏症 Multiple Sulfatase deficiency E75.29 A8 膽固醇及脂質代謝異常 Cholesterol and Lipid metabolism A8 01 同合子家族性高膽固醇血症 Homozygous familial hypercholesterolemia E78.0 02 家族性高乳糜微粒血症 Familial Hyperchylomicronemia E78.3 豆固醇血症 植物性 Sitosterolemia E78.0 A9 礦物離子缺陷 A9 01 威爾森氏症 Wilson s disease E83.01 02 Menkes 症候群 Menkes syndrome E83.09 鉬輔酶缺乏症 Molybdenum cofactor deficiency E61.5 A10 過氧化體代謝異常 A1 0 01 Zellweger 氏症候群 Zellweger syndrome E71.510 02 腎上腺腦白質失養症 Adrenoleukodystrophy E71.511 E71.520 E71.521 E71.528 E71.529 肢近端型點狀軟骨發育不良 Rhizomelic Chondrodysplasia Punctata E71.540 A11 其他代謝異常 01 紫質症 Porphyria E80.20 E80.21 E80.29 02 Lesch-Nyhan 氏症候群 Lesch-Nyhan syndrome E79.1 亞硫酸鹽氧化酶缺乏 Sulfite oxidase deficiency E72.19 04 碳水化合缺乏醣蛋白症候群 Carbohydrate-deficiency glycoprotein syndrome E77.8 05 臭魚症 Trimethylaminuria E72.52 06 先天性全身脂質營養不良症 Congenital generalized lipodystrophy E88.1

07 腦腱性黃瘤症 Cerebrotendinous Xanthomatosis E75.5 08 低磷酸酯酶症 Hypophosphatasia E83.39 E83.31 09 Beta 硫解酶缺乏症 Beta-Ketothiolase Deficiency E71.19 10 生物素酶缺乏症 Biotinidase Deficiency D81.810 B 腦部或神經系統病變 B1 01 多發性硬化症 Multiple sclerosis G35 02 肌萎縮性側索硬化症 Amyotrophic lateral sclerosis (ALS) G12.21 共濟失調微血管擴張症候群 Ataxia telangiectasia G11.3 04 亨丁頓氏舞蹈症 Huntington disease( 又稱 Huntington's chorea) G10 05 瑞特氏症候群 Rett syndrome F84.2 06 脊髓性肌肉萎縮症 Spinal muscular atrophy G12.9 07 脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia G11.1 08 結節性硬化症 Tuberous sclerosis Q85.1 09 先天性痛不敏感症合併無汗症 Congenital insensitivity to pain with anhidrosis(cipa) L74.4 10 神經纖維瘤症候群第二型 Neurofibromatosis type Ⅱ Q85.02 11 Alexander 氏病 Alexander disease E75.29 12 僵體症候群 Stiffperson syndrome G25.82 13 遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia G11.4 14 Joubert 氏症候群 ( 家族性小腦蚓部發育不全 ) Joubert syndrome Q04.3 15 Pelizaeus-Merzbacher 氏症 ( 慢性兒童型腦硬化症 ) 16 Charcot Maire Tooth 氏症 ( 進行性神經性腓骨萎縮症 ) 17 甘迺迪氏症 ( 脊髓延髓性肌肉萎縮症 ) Pelizaeus-Merzbacher Disease E75.29 Charcot Marie Tooth Disease G60.0 Kennedy Disease G12.20 G12.21 G12.22 G12.29

18 家族性澱粉樣多發性神經病變 Familial Amyloidotic Polyneuropathy E85.1 19 Moebius 症候群 Moebius syndrome Q87.0 20 Mcleod 症候群 Mcleod syndrome Q97.8 Q98.8 21 Aicardi-Goutieres 症候群 Aicardi-Goutieres syndrome G31.89 22 普洛提斯症候群 Proteus Syndrome Q87.3 23 MECP2 綜合症候群 24 腦肋小頜症候群 Methyl CpG binding protein 2 Duplication Syndrome (MECP2 Duplication Syndrome) Cerebro-Costo-Mandibular Syndrome Q99.8 Q87.89 C 呼吸循環系統病變 C1 01 特發性嬰兒動脈硬化症 Idiopathic Infantile Arterial Calcification Q28.8 02 囊狀纖維化症 Cystic fibrosis E84.9 原發性肺動脈高壓 Primary Pulmonary Hypertension (PPH) I27.0 04 Holt-Oram 氏症候群 Holt-Oram Syndrome Q87.2 05 Andersen 氏症候群 ( 心節律障礙暨週期性麻痺症候 Andersen syndrome E74.09 群 ; 鉀離子通道病變 ) 06 遺傳性出血性血管擴張症 Hereditary Hemorrhagic Telangiectasia I78.0 07 窒息性胸腔失養症 Asphyxiating thoracic dystrophy Q77.2 08 先天性中樞性換氣不足症候群 D 消化系統病變 01 進行性家族性肝內膽汁滯留症 Congenital Central Hypoventilation Syndrome Progressive intrahepatic cholestasis,pfic G47.35 K83.1 02 先天性膽酸合成障礙 Inborn errors of bile acid synthesis E78.70 α1- 抗胰蛋白酶缺乏症 α1- Antitrypsin deficiency E88.01 04 先天性 Cajal 氏間質細胞增 Congenital Interstitial Cell of Cajal 生合併腸道神經元發育異 Hyperplasia with Neuronal 常 Intestinal Dysplasia Q43.8 05 阿拉吉歐症候群 Alagille Syndrome Q44.7 E 腎臟泌尿系統病變 E1 01 Lowe 氏症候群 Lowe syndrome E72.

02 Bartter 氏症候群 Bartter s syndrome E26.81 體染色體隱性多囊性腎臟疾病 Autosomal recessive polycystic kidney disease Q61.19 F 皮膚病變 F1 01 遺傳性表皮分解性水泡症 Hereditary epidermolysis bullosa Q81.9 02 層狀魚鱗癬 ( 自體隱性遺傳型 ) Ichthyosis, lamellar recessive Q80.2 膠膜兒 Collodion baby Q80.2 04 斑色魚鱗癬 Harlequin ichthyosis Q80.4 05 水泡型先天性魚鱗癬樣紅 Bullous Congenital ichthyosiform 皮症 ( 表皮鬆解性角化過 erythoderma 度症 ) (epidermolytic hyperkeratosis) Q80.3 06 外胚層增生不良症 Ectodermal Dysplasias Q82.4 07 Meleda 島病 Meleda disease Q82.8 08 Darier 氏症 ( 毛囊角化病 ) Darier s disease Q82.8 09 先天性角化不全症 Dyskeratosis Congenita Q82.8 10 皮膚過度角化症雅司病 Diffuse Non-epidermolytic Palmoplantar Keratoderma type Unna-Thost Q82.8 11 色素失調症 Incontinentia Pigmenti Q82.3 12 Netherton 症候群 Netherton Syndrome Q80.3 G 肌肉病變 G1 01 裘馨氏肌肉失養症 Duchenne muscular dystrophy G71.0 02 Nemaline 線狀肌肉病變 Nemaline Rod Myopathy G71.2 Schwartz Jampel 氏症候群 Schwartz Jampel syndrome G71.13 04 肌肉強直症 Myotonic dystrophy G71.11 05 面肩胛肱肌失養症 Facioscapulohumeral muscular dystrophy G71.0 06 肌小管病變 Myotubular Myopathy G71.2 07 貝克型肌肉失養症 Becker Muscular Dystrophy G71.0 08 Freeman-Sheldon 氏症候群 Freeman-Sheldon syndrome Q87.0 09 肢帶型肌失養症 Limb-girdle muscular dystrophy G71.0

10 先天性肌失養症 Congenital Muscular Dystrophy G71.0 11 中心軸空肌病 Central Core Disease G71.2 12 多微小軸空肌病 Multiminicore Disease G71.2 13 Emery Dreifuss 肌失養症 H 骨及軟骨病變 Emery Dreifuss Muscular Dystrophy (EDMD) G71.0 H1 01 軟骨發育不全症 Achondroplasia Q77.4 02 成骨不全症 Osteogenesis imperfecta Q78.0 原發性變形性骨炎 Primary Paget disease M88.0 M88.1 M88.811 M88.812 M88.819 M88.821 M88.822 M88.829 M88.831 M88.832 M88.839 M88.841 M88.842 M88.849 04 鎖骨顱骨發育異常 Cleidocraninal dysplasia Q74.0 05 進行性骨化性肌炎 06 裂手裂足症 Fibrodysplasia Ossificans Progressiva Split-hand/ Split-foot malformation (SHFM) M61.10 M61.111 M61.112 M61.119 M61.121 M61.122 M61.129 M61.131 M61.132 M61.139 M61.141 M61.142 M61.143 M61.144 M61.145 M61.146 M61.151 Q71.60 Q71.61 Q71.62 Q71.63 M88.851 M88.852 M88.859 M88.861 M88.862 M88.869 M88.871 M88.872 M88.879 M88.88 M88.89 M88.9 M61.152 M61.159 M61.161 M61.162 M61.169 M61.171 M61.172 M61.173 M61.174 M61.175 M61.176 M61.177 M61.178 M61.179 M61.18 M61.19 Q72.70 Q72.71 Q72.72 Q72.73

07 骨質石化症 Osteopetrosis Q78.2 08 假性軟骨發育不全 Pseudoachondroplastic dysplasia Q77.8 09 多發性骨骺發育不全症 Multiple Epiphyseal Dysplasia Q78.3 I 結締組織病變 I1 01 先天結締組織異常第四型 Ehlers Danlos syndrome Ⅳ Q79.6 J 血液疾病 01 重型海洋性貧血 Thalassemia major D56.0 D56.1 02 血小板無力症 Thrombasthenia D69.1 同基因合子蛋白質 C 缺乏症 04 陣發性夜間血紅素尿症 05 非典型性尿毒溶血症候群 Homozygous protein C deficiency D68.59 Paroxysmal Nocturnal Hemoglobinuria Atypical Hemolytic Uremic Syndrome D59.5 D59.3 K 免疫疾病 K1 01 原發性慢性肉芽腫病 Chronic primary granulomatous disease D71 02 先天性高免疫球蛋白 E 症候群 Congenital Hyper IgE syndrome D82.4 布魯頓氏低免疫球蛋白血症 Bruton s agammaglobulinemia D80.0 04 Wiskott- Aldrich 氏症候群 Wiskott- Aldrich Syndrome D82.0 05 嚴重複合型免疫缺乏症 06 補體成份 8 缺乏症 Severe combined immunodeficiency Complement Component 8 deficiency D81.0 D81.1 D81.2 D81.9 D84.1 07 IPEX 症候群 IPEX Syndrome E31.0 08 高免疫球蛋白 M 症候群 Hyper-IgM syndrome D80.5 09 γ 干擾素受體 1 缺陷 Interferon γ receptor 1 deficiency D84.8 10 遺傳性血管性水腫 Hereditary Angioedema (HAE) D84.1 L 內分泌疾病 L1 01 Kenny-Caffey 氏症候群 Kenny-Caffey syndrome Q87.1 02 假性副甲狀腺低能症 Pseudohypoparathyroidism E20.1

性連遺傳型低磷酸鹽佝僂症 04 Laron 氏侏儒症候群 X-linked hypophosphatemic rickets E83.31 Laron syndrome (Laron Dwarfism) E34.3 05 Bardet-Biedl 氏症候群 Bardet-Biedl syndrome Q87.89 06 Alstrom 氏症候群 Alsrtom Syndrome Q87.89 07 持續性幼兒型胰島素過度分泌低血糖症 Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) E16.1 08 Wolfram 氏症候群 Wolfram syndrome,didmoad E88.9 09 McCune Albright 氏症候群 McCune Albright syndrome Q78.1 10 短指發育不良及性別顛倒 Campomelic dysplasia with autosomal sex reversal Q99.8 11 腎上腺皮促素抗性 ACTH resistance E27.49 12 1α- 羥化酶缺乏症候群 1α-hydroxylase deficiency E25.0 13 先天性腎上腺發育不全 Congenital adrenal hypoplasia Q89.1 14 Kallmann 氏症候群 Kallmann syndrome E23.0 15 永久性新生兒糖尿病 M 先天畸形症候群 M 1 Permanent Neonatal Diabetes Mellitus P70.2 01 Aarskog-Scott 氏症候群 Aarskog-Scott syndrome Q87.1 02 瓦登伯格氏症候群 Waardenburg syndrome E70.8 愛伯特氏症 Apert syndrome Q87.0 04 Smith-Lemli-Opitz 氏症候群 Smith-Lemli-Opitz syndrome E78.72 05 Larsen 氏症候群 ( 顎裂 - 先天性脫位症候群 ) 06 Beckwith Wiedemann 氏症候群 Larsen syndrome Q74.8 Beckwith Wiedemann syndrome Q87.3 07 Crouzon 氏症候群 Crouzon syndrome Q75.1 08 Fraser 氏症候群 Fraser syndrome Q87.0 09 多發性翼狀膜症候群 Multiple pterygium syndrome Q79.8 10 Cornelia de Lange 氏症候群 Cornelia de Lange syndrome Q87.1

11 海勒曼 - 史德萊夫氏症候群 Hallerman-Streiff Syndrome Q87.0 12 歌舞伎症候群 Kabuki syndrome Q89.8 13 耳 - 齶 - 指 ( 趾 ) 症候群 Oto-Palato-Digital syndrome Q87.0 14 Conradi-Hunermann 氏症候群 Conradi-Hunermann syndrome Q77.3 15 Treacher Collins 氏症候群 Treacher Collins Syndrome Q75.4 16 Robinow 氏症候群 Robinow Syndrome Q87.1 17 Pfeiffer 氏症候群 Pfeiffer syndrome Q87.0 18 泛酸鹽激酶關聯之神經退化性疾病 Pantothenate Kinase Associated Neurodegeneration(PKAN) G23.0 19 指 ( 趾 ) 甲髕骨症候群 Nail-Patella Syndrome Q87.2 20 CFC 症候群 Cardiofaciocutaneous Syndrome Q87.89 21 Peters-Plus 症候群 Peters-Plus syndrome Q13.4 22 Nager 症候群 Nager Syndrome Q75.4 23 CHARGE 症候群 CHARGE Syndrome Q89.8 24 懷特 - 薩頓症候群 White-Sutton syndrome N 染色體異常 Q99.8 F84.8 F78 N1 01 Angelman 氏症候群 Angelman syndrome Q93.5 02 DiGeorge s 症候群 DiGeorge s syndrome D82.1 Prader-Willi 氏症候群 Prader-Willi syndrome Q87.1 04 威爾姆氏腫瘤 無虹膜 WAGR syndrome(wilms tumor- 性器異常 智能障礙症候 Aniridia-Genitourinary Anomaliesmental 群 (W A G R 症候群 ) Retardation) Q87.89 05 Miller Dieker 症候群 Miller Dieker syndrome Q93.88 06 Rubinstein-Taybi 氏症候群 Rubinstein-Taybi syndrome Q87.2 07 威廉斯氏症候群 Williams Syndrome Q93.89 08 Von Hippel Lindau 症候群 Von Hippel Lindau disease Q85.8 09 Branchio-Oto-Renal Syndrome ( BOR Branchio-Oto-Renal 症候群 Syndrome) (BOR 症候群 ) Q87.89

Z 其他未或不明原因 Z1 01 Cockayne 氏症候群 Cockayne syndrome Q87.1 02 早老症 Hutchinson Gilford progeria syndrome E34.8 髮 - 肝 - 腸症候群 Tricho-hepato-enteric syndrome Q89.7 04 Stargardt's 氏症 Stargardt's disease H35.50 05 隱匿性黃斑部失養症 Occult Macular Dystrophy;OMD H35.50 灰色底列疾病為 106/10/25 公告