單基因病有哪些?單基因病名稱中英文對照
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 | 是 |
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 | 是 |
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 | 是 |
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 | 是 |
Finnish Nephrosis | NPHS1 | ||
Fragile X | FMR1 | X染色體脆折症 | |
G | |||
Galactosemia | GALT | 半乳糖血症 | 是 |
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 | 是 |
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 | A | |
Hemophilia B | F9 | B | |
Hereditary Angioedema | C1NH | 遺傳性血管性水腫 | 是 |
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 | 是 |
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 | 是 |
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 | 是 |
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 | 是 |
Marfan Syndrome | FBN1 | 馬凡綜合徵 | 是 |
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 | 是 |
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 | 是 |
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 | 是 |
Osteogenesis Imperfecta | COL1A2, COL1A1 | 成骨不全症 | 是 |
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 | 是 |
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 | 是 |
Retinoblastoma | RB1 | 視網膜母細胞瘤 | 是 |
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 | 是 |
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 | 是 |
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 | 是 |
Wolman Lipase A | LIPA | ||
Z | |||
Zellweger | PEX1 | 趙葦格氏症 |