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小編整理了部分單基病的目錄,中英文對照,以及對應的基因名稱,這些單基因病可以用PGD篩查的,這些單基因病結合國內頒布的首批罕見病目錄做了整理,由於中英文疾病的名稱不統一,我們會繼續整理完善。

表格寬度較寬,請用電腦瀏覽。

單基因病英文名稱 基因檢測 單基因病中文名稱 國家罕見病目錄
A      
Aarskog FGD1 Aarskog Scott 症候群  
Achondroplasia FGFR3 軟骨發育不全  
Adrenoleukodystrophy ABCD1 腎上腺腦白質失養症  
Agammaglobulinemia BTK    
Alagille Syndrome JAG1 阿拉吉歐症候群  
Alpha Thalassemia HBA α地中海貧血症  
Alpha-antitrypsin AAT    
Alport Syndrome COL4A5 Alport綜合徵
Amyloidosis TTR    
Aniridia PAX6 先天性虹膜缺損  
Ankylosing spondylitis HLA-B27    
Argininosuccinic Aciduria ASL 精胺丁二酸酵素缺乏症  
Autoimmune Polyendocrine Syndrome AIRE    
Apert/Crouzon/Pfeiffer FGFR2 亞伯氏症/克魯松氏症候群/Pfeiffer症候群  
       
B      
Bardet Biedl Syndrome BBS1, BBS10 巴德-畢德氏綜合徵  
Barth Dilated Cardiomyopathy TAZ    
Basal Cell Nevus Syndrome aka gorlin PTCH    
Beta Thalassemia HBB    
Birt-Hogge-Dube FLCN    
Blepharophimosis-ptosis-epicanthus inversus FOXL2 先天性家族性瞼口狹小症  
Brachydactyly GDF5    
Brachydactyly - Hypertension Syndrome HTNB    
Hereditary Breast, Ovarian Cancer BRCA1, BRCA2    
       
C      
CADASIL - cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy Notch3    
Canavan ASPA    
Carnitine - AcylCarn Translocase SLC25A20    
Cerebral Cavernous Malformation CCM1    
Ceroid-lipofuscinoses-Batton PPT1    
Charcot Marie Tooth PMP22, NEFL, GJB1, MPZ    
Cherubism SH3BP2    
Choroideremia CHM    
Chronic Granulomatous Disease CYBB 慢性肉芽腫病  
Ciliary Dyskinesia DNAH5    
Citrullinemia ASS1 瓜氨酸血症
Cleidocranial Dysplasia RUNX2    
Cockayne Syndrome ERCC6 柯凱因氏症候群  
Congenital Adrenal Hyperplasia CYP21A2    
Congenital Disorder of Glycosylation CGD1    
Congenital Icthyosis (Harlequin) ABCA12    
Cornelia de Lange Syndrome NIPBL    
Cystic Fibrosis CFTR 囊狀纖維化  
Cysteinyl Leukotriene Receptor 1 Deficiency CYSLTR1    
       
D      
D-Bifunctional Protein Deficiency HSD17B4    
Darier Disease ATP2A2 Darier氏病(毛囊角化症)  
Deafness, Autosomal Recessive GJB2, GJB6    
Denys-Drash Syndrome WT1    
Desmin Storage Myopathy DES    
Duchenne/Becker MD DMD    
Dyskeratosis Congenita DKC1    
Dystonia TOR1A    
Dystrophia Myotonica DMPK    
       
E      
Ectodermal Dysplasia EDA1, GJB6 外胚層增生不良症  
Ectrodactyly- Clefting Syndrome TP63    
Ehlers Danlos COL3A1 先天結締組織異常  
Emery-Dreifuss Muscular Dystrophy EMD, LMNA Emery-Dreifuss 肌失養症  
Epidermolysis Bullosa KRT5, KRT14, LAMB3, ITGB4, COL7A1    
       
F      
Fabry Disease GLA 法布雷病
Factor V Leiden F5    
Familial Adenomatous Polyposis APC    
Familial Dysautonomia IKBKAP    
Familial Exudative Vitreoretinopathy FZD4    
Fanconi Anemia FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG 範可尼貧血
Finnish Nephrosis NPHS1    
Fragile X FMR1 X染色體脆折症  
       
G      
Galactosemia GALT 半乳糖血症
Gaucher Disease GBA 高雪氏症   
Gerstman-Straussler Disease PRNP    
Gluteric Acidemia ETFA, GCDH    
Glycogen Storage Disease G6PC, SLC37A4, GAA 糖原累積病
gm1 gangliosidosis GLB1 GM1神經節苷脂貯積症  
Greig Cephalopolysyndactyly GLI3    
       
H      
Huntington Disease - Nondisclosing HD 亨丁頓舞蹈症   
Hemophagocytic Lymphohistiocytosis HPLH1, PRF1    
Hemophilia A F8 血友病A  
Hemophilia B F9 血友病B  
Hereditary Angioedema C1NH 遺傳性血管性水腫
Hereditary Hemorrhagic Telangiectasia HHT1 遺傳性出血性之血管擴張症  
Hereditary Leiomyomatosis FH    
Hereditary Lymphedema FOXC2    
Hereditary Nonpolyposis Colon Cancer MSH2, MLH1    
Hereditary Pancreatitis PRSS1    
HLA HLA-A    
Holt-Oram TBX5 Holt-Oram 症候群  
Homocystinuria CBS 高胱胺酸尿症  
Hunter Syndrome IDS    
Huntington Disease HD 亨廷頓舞蹈病
Hurler Syndrome IDUA    
Hydrocephalus, X-linked L1CAM    
Hypertrophic Cardiomyopathy LDB3, MYH7, TNNT2, MYBPC3    
Hypokalemic periodic paralysis SCN4A    
Hypophosphatasia ALPL 低鹼性磷酸酶血症
       
I      
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia VCP    
Incontinentia Pigmenti NEMO 色素失調症   
IPEX- immunodysregulation, polyendocrinopathy, enteropathy, x-linked FOXP3    
       
J      
Joubert Syndrome INPP5E    
       
K      
Kallmann Syndrome FGFR1 卡爾曼綜合徵
KELL Antigen KEL    
Kennedy-Spinal bulbar SMAX1    
Krabbe Disease GALC Krabbe氏症  
       
L      
Leber Retinal Congenital Amaurosis -X GUCY2D, CEP290    
Leigh Complex 1 Deficiency c20ORF7    
Leigh Syndrome LRPPRC Leigh症候群   
Leukocyte Adhesion Deficiency ITGB2    
Li Fraumeni Syndrome p53    
Limb Girdle MD POMT1, LMNA    
Long QT Syndrome KCNQ1, SCN5A, KCNE2    
       
M      
Macular Dystrophy VMD2    
Maple Syrup Urine Disease BCKDHB 諷糖尿症
Marfan Syndrome FBN1 馬凡綜合徵
Meckel Gruber MKS1, MKS3    
MCADD MCADH    
Menkes ATP7A 緬克斯症候群   
Merosin-deficient congenital muscular dystrophy 1A Methylmalonic Acidemia    
Metachromatic Leukodystrophy ARSA 異染性腦白質退化症  
Methylmalonic Acidemia MUT, MMACHC 甲基丙二酸血症  
Microphthalmia CHX    
Mucolipidosis 2 I-Cell GNPTAB    
Multiple Endocrine Neoplasia MEN1, MEN2A, MEN2B    
Multiple Exostoses EXT1, EXT2    
Myasthenia Gravis CHRNE    
Myotubular Myopathy MTM    
       
N      
NEMO immunodeficiency NEMO    
Neurofibromatosis 1 NF1 神經性纖維瘤第一型  
Neurofibromatosis 2 NF2 神經性纖維瘤第二型  
Niemann-Pick SMPD1, NPC1 尼曼匹克病
Nonketotic Hyperglycinemia AMT, GLDC 非酮性高甘胺酸血症診斷與治療  
Noonan Syndrome KRAS, PTPN11, SOS1 Noonan綜合徵
Norrie Disease NDP    
       
O      
Ocular Albinism GPR143    
Oculocutaneous Albinism TYR, OCA2 眼皮膚白化症  
Oculodentaldigital Dysplasia GJA1    
Optic Atrophy OPA1    
Ornithine Transcarbamylase Deficiency OTC 鳥氨酸氨甲酰基轉移酶缺乏症
Osteogenesis Imperfecta COL1A2, COL1A1 成骨不全症
Osteopetrosis OSTM1, CLCN7, TCIRG1 骨質石化症  
OTOF related deafness OTOF    
       
P      
Pachyonychia Congenita KRT16, KRT6A    
Peutz-Jeghers Syndrome STK11 黑斑息肉綜合徵
Phenylketonuria PAH 苯酮尿症  
Pheochromocytoma SDHB    
Polycystic Kidney Disease PKD1, PKD2    
Polycystic Kidney Disease, AR PKHD1    
Pompe Disease GAA 龐貝氏症  
Pseudohypoparathyroidism GNAS1 假性副甲狀腺低下症  
       
R      
Retinitis Pigmentosa RHO 視網膜色素變性症
Retinoblastoma RB1 視網膜母細胞瘤
Retinoschesis RS1    
Rett MeCP2 蕾特氏症  
RhD RHD    
Rothmund-Thomson RECQL4    
       
S      
Sanfillipo SGSH    
Sathre-Chozen Craniosynostosis TWIST    
Shwachman-Diamond syndrome SBDS    
SCID ADA, IL2RG 嚴重複合型免疫缺乏症  
Senior-Loken Syndrome IQCB1    
Sexing X, Y    
Short Rib Polydactyly Syndrome DYNC2H1    
Sickle Cell Anemia HBB    
Simpson-Golabi-Behmel GPC3    
Sjogren-Larsson ALDH3A2    
Smith Lemli Opitz SLOS Smith-Lemli-Opitz症候群  
Sorsby Fundus Dystrophy TIMP3    
Spinal Muscular Atrophy SMN1 脊髓性肌萎縮症
Spinocerebellar Ataxia 1 ATNX1 脊髓小腦性共濟失調1型  
Spinocerebellar Ataxia 2 ATXN2 脊髓小腦性共濟失調2型  
Spinocerebellar Ataxia 3 SCA3 脊髓小腦性共濟失調3型  
Spinocerebellar Ataxia 7 ATXN7 脊髓小腦性共濟失調7型  
Spondyloepiphyseal Dysplasia COL2A1 先天性脊椎骨骨後發育不全  
Stickler syndrome COL2A1    
Surfactant Pulmonary B SFTPB    
       
T      
Tay-Sachs Disease HEXA Tay-Sachs症  
Thrombocyenia with Beta Thalassemia GATA1    
Torsion dystonia DYT1    
Treacher Collins TCOF1 Treacher Collins症候群  
Tuberous Sclerosis TSC1, TSC2 結節性硬化症
       
U      
Ullrich Congenital Muscular Dystrophy COL6A2, COL6A3    
Usher Syndrome MYO7A    
       
V      
von Hippel-Lindau VHL 逢希伯-林道症候群  
       
W      
Waardenburg MITF, PAX3 瓦登伯革氏症候群  
Walker-Warburg Syndrome FKTN    
Wiskott-Aldrich WAS 濕疹血小板減少伴免疫缺陷綜合徵
Wolman Lipase A LIPA    
       
Z      
Zellweger PEX1 趙葦格氏症