罕见疾病基金会服务罕见病病类明细表.doc

罕見疾病基金會服務罕見病病類明細表01、胺基酸/有機酸代謝異常0101苯酮尿症Phenylketouria(PKU)0111組胺酸血症Histidinemia0102高胱胺酸血症Homocystinuria0112甲基丙二酸血症Methylmalonic acidemia (MMA)0103遺傳性高酪胺酸血症Hereditary tyrosinemia0113異戊酸血症Isovaleric academia (IVA)0104高甲硫胺酸血症Methionine adenosyltransferase deficiency ,MET0114丙酸血症Propionic acidemia (PA)0105楓糖尿症Maple syrup urine disease (MSUD)0115戊二酸血症，第一、二型Glutaric aciduria type I, II0106非酮性高甘胺酸血症Nonketotic hyperglycinemia0116白胺酸代謝異常3-Hydroxy-3-methyl-glutaric acidemia0107胱胺酸症Cystinosis0117三甲基巴豆醯輔酶A梭化酵素缺乏症3-Methylcrotony-CoA carboxylase deficiency0108苯酮尿症- 四氫基喋呤缺乏症(Phenylketonuria)-(Tetrahydrobiopterin deficiency)0118多發性羧化酶缺乏症 (生物素酵素缺乏症)Multiple carboxylase deficiency0109穌胺基酸症第一、二、三型Tyrosinemial I 、II、III0119高脯胺酸血症Hyperprolinemia0110高離氨基酸血症Hyperlysinemia0120芳香族L-胺基酸類脫羧基酶缺乏症Aromatic L-amino acid decarboxylase deficiency02、尿素循環代謝異常0201瓜胺酸血症Citrullinemia0203乙醯榖胺酸合成酶缺乏症Nitroacetylglutamate synthetase deficiency（NAG）0202鳥胺酸氨甲醯基轉移酶缺乏症Omithine transcarbamylase deficiency0204(其他未分類)03、其他代謝異常0301肝醣儲積症 (type Itype IV)Glycogen storage disease (type Itype IV)0311岩藻糖代謝異常（儲積症）Fucosidosis0302黏多醣症 (type I type VI)Mucopolysaccharidoses(type I type VI)0312原發性肉鹼缺乏症Carnitine deficiency syndrome, primary0303高雪氏症Gauchers disease0313MLD症候群Metachromatic Leukodystrophy（MLD）0304Fabry 氏症（法布瑞氏症）Fabry Disease0314粒線體缺陷Mitochondrial defect0305尼曼匹克症Niemann-Pick Disease0315紫質症porphyria0306短鏈脂肪酸去氫酶缺乏症Short-chain acyl-CoA dehydrogenase deficiency0316威爾森氏症Wilsons disease0307腎上腺腦白質失養症Adrenoleukodystrophy (ALD)0317先天性高乳酸血症Congenital hyperlactic acidemia0308脂肪酸氧化作用缺陷Fatty acid oxidation defect0318持續性幼兒型胰島素過度分泌低血糖症Persistent hyperinsulinemic hypoglycemia of infancy0309亞硫酸鹽氧化酶缺乏Sulfite oxidase deficiency0319半乳糖血症Galactosemia0310遺傳性果糖不耐症, 果酸尿症Fructose intolerance, hereditary0320黏脂質症Mucolipidosis04、心肺功能失調0401原發性肺血鐵質沉積症Primary Pulmonary hemosiderosis0404特發性嬰兒動脈硬化Idiopathic Infantile Arterial Calcification0402原發性肺動脈高壓症Primary Pulmonary Hypertensio,PPH0405囊狀纖維化Cystic fibrosis0403Alstrom氏症候群Alsrtom Syndrome0406Holt-Oram氏症候群Holt-Oram Syndrome0407鉀離子通道病變疾病Andersens syndrome05、消化系統失調0501進行性家族性肝內膽汁滯留症Progressive intrahepatic cholestasis,PFIC0502先天性膽酸合成障礙Inbon errors of bile acid synthesis0503先天性Cajal氏間質細胞增生合併腸道神經元發育異常Congenital Interstitial Cell of Cajal Hyperplasis with Neuronal Intestinal Dyspl06、泌尿系統失調0601腎因型尿崩症X-linked nephrogenicdiabetes insipidus0604家族性低血鉀症Hypokalemia, familial0602性聯遺傳型低磷酸鹽佝僂症X-linked hypophosphatemic rickets0605多囊腎病Polycystic kidney disease0603Lowe氏症候群Lowe sydrome0606Bartter氏症候群Bartters syndrome07、腦部或神經病變0701毛毛樣腦血管疾病Moya moya disease0711肌萎縮性側索硬化症(漸凍人)Amyotrophic lateral sclerosis (ALS)0702胼胝體發育不全症Agenesis of corpus callosum0712Charcot-Marie-Tooth氏症Charcot-Marie-Tooth Disease0703脊髓小腦性共濟失調Spinocerebellar ataxia0713GM1/GM2神經節苷脂儲積症GM1/GM2 gangliosidosis0704亨汀頓氏舞蹈症Huntington disease(又稱Huntingtons chorea)0714Lesch-Nyhan氏症候群Lesch-Nyhan syndrome0705結節性硬化症Tuberous sclerosis0715共濟失調微血管擴張症候群Ataxia telangiectasia0706多發性硬化症Multiple sclerosis0716涎酸酵素缺乏症Sialidosis0707Zellweger氏症候群Zellweger syndrome0717先天性痛不敏感症合併無汗症Congenital insensitivity to pain with anhidrosis0708瑞特氏症候群Rett syndrome0718下視丘功能障礙症候群Hypothalamic dysfunction syndrome0709脊髓性肌肉萎縮症Spinal muscular atrophy0719Miller Dieker症候群Miller Dieker syndrome0710Menkes氏症候群Menkes disease0720神經元蠟樣脂褐質儲積症Neuronal ceroid lipofuscinosis08、皮膚病變0801遺傳性表皮分解性水皰症Hereditary epidermolysis bullosa0807色素失調症Incontinentia pigmenti0802層狀魚鱗癬（自體隱性遺傳型）Ichthyosis, lamellar recessive0808眼睛皮膚白化症Oculocutaneous albinism0803外胚層增生不良症Ectodermal Dysplasias0809嬰兒型全身性玻璃樣變性Infantile systemic hyalinosis0804膠膜兒Collodion baby0810Meleda 島病Meleda disease0805斑色魚鱗癬Harlequin ichthyosis0811Darier氏病（毛囊角化症）Dariers disease0806水泡型先天性魚鱗癬樣紅皮症Bullous Congenital ichthyosiform erythoderma09、肌肉病變0901遺傳性細胞漿內體肌病變Hereditary cytoplasmic body myopathy0906肌肉強直症Myotonic dystrophy0902裘馨氏肌肉萎縮症/貝克氏肌肉萎縮症Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD)0907其他型肌肉萎縮症0903肌中央軸空病Central core myopathy0908肌小管病變Myotubular myopathy0904Nemaline線狀肌肉病變Nemaline Rod Myopathy0909面肩胛肱肌失養症Facioscapulohumeral muscular dystrophy0905Schwartz Jampel氏症候群Schwartz Jampel syndrome10、骨頭病變1001成骨不全症（玻璃娃娃）Osteogenesis imperfecta1007McCune Albright氏症候群(纖維性骨失養症)McCune Albright syndrome1002軟骨發育不全症(小小人兒)Achondroplasia1008骨骼發育異常Spondyloepiphyseal Dysplasia(SED)1003骨質石化症 (大理石寶寶)Osteopetrosis1009裂手裂足症Split-hand/ Split-foot malformation（SHFM）1004進行性骨化性肌炎Fibrodysplasia Ossificans Progressiva1010假性軟骨發育不全Pseudoachondroplastic dysplasia1005原發性變形性骨炎Primary Paget disease1011Conradi-Hunermann氏症候群Conradi-Hunermann syndrome1006鎖骨顱骨發育異常Cleidocranial dysplasia11、結締組織病變12、造血功能異常1101馬凡氏症 (蜘蛛人症)Marfan syndrome1201再生不良性貧血症Aplastic anemia1102瓦登伯格氏症候群(藍眼珠)Waardenburg syndrome1202重型海洋性貧血Thalassemia major1103先天結締組織異常第四型Ehlers Danlos syndrome 1203血小板無力症Thrombasthenia1104畢耳氏症候群Beals Syndrome1204同基因合子蛋白質C缺乏症Homozygous proetin C deficiency12051-抗胰蛋白酶缺乏症1- Antitrypsin deficiency13、免疫疾病1301布魯頓氏低免疫球蛋白血症Brutons agammaglobulinemia1305嚴重複合型免疫缺乏症Severe combined immunodeficiency1302原發性慢性肉芽腫病Chronic primary granulomatous disease1306補體成份8缺乏症Complement Component 8 deficiency1303先天性高免疫球蛋白E症候群Congenital Hyper IgE syndrome1307IPEX症候群IPEX Syndrome1304Wiskott-Aldrich氏症候群Wiskott-Aldrich Syndrome14、內分泌疾病1401先天性腎上腺發育不全Congenital adrenal hypoplasia1407Kenny-Caffey氏症候群Kenny-Caffey syndrome1402假性副甲狀腺低能症Pseudohypoparathyroidism1408威爾姆氏腫瘤、無虹膜、性器異常、智能障礙症候群（W A G R症候群）WAGR Syndrome(Wilms tumor-Aniridia-Genitourinary Anomalies-mental Retardation)1403同合子家族性高膽固醇血症Homozygous familial hypercholesterolemia1409腎上腺皮促素抗性ACTH resistance1404家族性高乳糜微粒血症Familial hyperchylomicronemia14101-羥化酶缺乏症候群1-hydroxylase deficiency1405肢端肥大症 (大肢症)Acromegaly1411Kallmann氏症候群Kallmann syndrome1406Laron氏侏儒症候群Laron syndrome (Laron dwarfism)15、不正常細胞増生瘤1501神經纖維瘤症候群Neurofibromatosis1505Beckwith Wiedemann氏症候群Beckwith Wiedemann syndrome1503視網膜母細胞瘤Retinoblastoma1506淋巴血管平滑肌肉增生症Lymphangioleiomyomatosis(LAM)1504神經母細胞瘤Neuroblastoma16、外觀異常1601愛伯特氏症Apert syndrome1611皮爾羅賓氏症Pierre Robin Syndrome1602Crouzon氏症候群Crouzon Syndrome1612崔卻柯林斯氏症候群Treacher Collins syndrome1603羅素-西弗氏症Russell-Silver syndrome1613多發性翼狀膜症候群Multiple pterygium syndrome1604Cornelia de Lange氏症候群Cornelia de Lange syndrome1614努南氏症Noonan syndrome1605X 脆折症Fragile X syndrome1615克斯提洛氏彈性蛋白缺陷症(小黑人症)Costello Syndrome1606CHARGE聯合畸形CHARGE association1616Fraser 氏症Fraser syndrome1607Aarskog-Scott氏症候群Aarskog-Scott syndrome1617先天性家族性瞼口狹小症Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome1608Smith-Lemli-Opitz症候群Smith-Lemli-Opitz syndrome1618歌舞伎症候群Kabuki make-up syndrome16