Phạm vi xét nghiệm imuta
Danh sách các bệnh/hội chứng và panel gen tương ứng
Danh sách các bệnh
STT | Bệnh/Hội chứng | Condition/Syndrome | Gen |
---|---|---|---|
Chuyển hóa | |||
1 | Hội chứng Aicardi–Goutières | Aicardi–Goutières syndrome | ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
2 | Loạn dưỡng mỡ bẩm sinh gia đình | Congenital and familial lipodystrophy | AGPAT2, AKT2, BSCL2, CAV1, LMNA, PLIN1, PPARG, PTRF, TBC1D4, ZMPSTE24 |
3 | Rối loạn glycosyl hoá bẩm sinh | Congenital disorders of glycosylation | ALG1*, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SEC23B, SLC35A1, SLC35C1, SRD5A3*, STT3A, STT3B, TMEM165, TUSC3 |
4 | Rối loạn Mono- và Disaccharide bẩm sinh | Congenital Mono- and Disaccharide disorders | ALDOB, GALE, GALK1, GALT, LCT, SI, SLC2A1, SLC2A2, SLC5A1 |
5 | Thiếu chuyển hoá creatine | Creatine metabolism deficiency | GAMT, GATM, SLC6A8* |
6 | Cystine niệu | Cystinuria | SLC3A1, SLC7A9 |
7 | Hội chứng oxy hoá axit béo | Fatty acid oxidation syndrome | ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ALDH5A1, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ |
8 | Rối loạn dự trữ glycogen | Glycogen storage disorder | AGL, ALDOA, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG3, PYGL, PYGM, SLC2A2, SLC37A4 |
9 | Ứ sắt di truyền | Hereditary hemochromatosis | HAMP, HFE, HFE2, SLC40A1, TFR2 |
10 | Homocystine niệu | Homocystinuria | CBS, MTHFR, MTR, MTRR |
11 | Tăng ammoniac và rối loạn chuyển hoá ure | Hyperammonemia and urea cycle disorder | ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, NBAS, OAT, OTC, PC, PCCA, PCCB, SLC7A7, SLC22A5, SLC25A13, SLC25A15*, SLC25A20, SUCLA2, SUCLG1, TMEM70, UMPS |
12 | Tăng phenylalanine | Hyperphenylalaninemia | GCH1, PAH, PCBD1, PTS, QDPR |
13 | Rối loạn lysosome và mucopolysachcharidosis | Lysosomal disorders and mucopolysaccharidosis | ABCC8, ACY1, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL2A1, COL11A2, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA*, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB*, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS*, IDUA, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1*, MOCS2, MYOT, NAGA, NAGLU, NPC1, NPC2, PEX1, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX16, PEX26, PGK1, PHYH, PPT1*, PRODH*, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15*, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1 |
14 | Suy chuyển hoá gan | Metabolic liver failure | ALDOB, ATP7B, FAH, GALE, GALK1, GALT, LIPA, MPI, NPC1, NPC2, PHKA2, PHKB, PHKG2, PYGL, SERPINA1, SMPD1 |
15 | Bệnh chuyển hoá và li giải cơ | Metabolic myopathy and rhabdomyolysis | ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1, ANO5, CAV3, COQ2, CPT2, DYSF, ETFA, ETFB, ETFDH, FKRP, FKTN, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, MYH3, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SUCLA2, TK2, TYMP |
16 | Hội chứng tiêu ADN ty thể | Mitochondrial DNA depletion syndrome | AGK*, APTX, AUH, DGUOK, MFN2, MPV17, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TIMM8A*, TK2, TMEM126A, TYMP, WFS1 |
17 | Rối loạn peroxisome | Peroxisomal disorders | ABCD1*, ABCD3, ACOX1, AGPS, AGXT, AMACR, DYM, EBP, GNPAT, HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, TRIM37 |
18 | Rối loạn chuyển hoá porphyrin | Porphyria | ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS |
Da liễu | |||
19 | Hội chứng Adams-Oliver | Adams-Oliver syndrome | ARHGAP31, DOCK6, KCTD1*, NOTCH1, RBPJ*, UBR1 |
20 | Bạch tạng | Albinism | AP3B1, BLOC1S6, DTNBP1, GPR143, HPS1*, HPS3*, HPS4, HPS5, HPS6, LYST*, MC1R, MITF, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR*, TYRP1 |
21 | Nhão da | Cutis laxa | ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, SLC2A10 |
22 | Loạn sừng bẩm sinh | Dyskeratosis congenita | ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, SLC2A10 |
23 | Loạn sản ngoại bì | Ectodermal dysplasia | BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, HR, IFT122*, JUP, LRP6, MPLKIP, PORCN, TP63, WDR35, WNT10A | 24 | Hội chứng Ehlers-Danlos | Ehlers-Danlos syndrome | ABCC6*, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, ZNF469 | 25 | Bong biểu bì bóng nước | Epidermolysis bullosa | ATP2C1, COL7A1, COL17A1, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, KRT1, KRT5, KRT14*, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5 | 26 | Viêm da đầu chi - bệnh ruột di truyền | Hereditary acrodermatitis enteropathica | SLC39A4 |
27 | Hội chứng Hermansky–Pudlak | Hermansky-Pudlak syndrome | ABCA3, AP3B1, AP3D1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1*, HPS3*, HPS4, HPS5, HPS6, LYST*, OCA2, SFTPB, SFTPC, SLC45A2, TERC, TERT, TINF2, TYR*, TYRP1 | 28 | Vảy cá | Ichthyosis | ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CYP4F22, EBP, ERCC2, FLG*, GJB2, GJB3, GJB4, KRT1, KRT2, KRT10, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1 | 29 | U xơ thần kinh | Neurofibromatosis | KIT, KITLG, NF1*, NF2, PTPN11, RAF1, SMARCB1, SPRED1, LZTR1 | 30 | Dày móng bẩm sinh | Pachyonychia congenita | AAGAB, KRT6A*, KRT16*, KRT17*, TRPV3 | 31 | Dày sừng lòng bàn tay, bàn chân | Palmoplantar keratoderma | AAGAB, AQP5, CTSC, DSC2, DSG1, DSP, ENPP1, GJA1, GJB2, GJB4, GJB6, JUP, KANK2, KRT1, KRT6A*, KRT14*, KRT16*, KRT17*, LOR, MBTPS2, PKP1, SLURP1, TRPV3, WNT10A | 32 | Hội chứng lão hóa sớm | Progeria and progeroid syndrome | AGPAT2, ALDH18A1, B4GALT7, BLM, BSCL2, COL3A1, ERCC2, ERCC4, ERCC5, ERCC6*, ERCC8, GORAB, LMNA, PYCR1, RECQL4, WRN*, ZMPSTE24 |
Hô hấp | |||
33 | Giãn phế quản | Bronchiectasis | CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, NME8, RSPH4A, RSPH9, SCNN1A, SCNN1B |
34 | Giảm thông khí trung ương và ngưng thở | Central hypoventilation and apnea | CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1, MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2* |
35 | Xơ nang | Cystic fibrosis | CFTR |
36 | Bệnh phổi mô kẽ | Cystic lung disease | ABCA3, CSF2RA*, CSF2RB, DKC1, ELMOD2, HPS1*, HPS4, ITGA3, NF1*, NKX2-1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC7A7, SLC34A2, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2 |
37 | Suy hô hấp sơ sinh - rối loạn chức năng surfactant | Neonatal respiratory distress – surfactant dysfunction | ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC |
38 | Bất động lông chuyển nguyên phát | Primary ciliary dyskinesia | CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, INVS, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9 |
39 | Tăng áp động mạch phổi | Pulmonary artery hypertension | ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, KCNK3, NFU1, SMAD4, TBX4 |
Huyết học | |||
40 | Thiếu máu | Anemia | ABCB7, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA2, BRIP1, CDAN1, CLCN7, CUBN*, CYB5R3, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PD, GATA1, GPI, GSS, HBB, HFE, KLF1, LPIN2, MTR, NBN, NT5C3A, PALB2, PC, PDHA1, PDHX, PKLR, PUS1, RAD51C, REN, RHAG, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26, SEC23B, SLC4A1, SLC19A2, SLC25A38, SLX4, SPTA1, SPTB, TCN2, TF, THBD, TMPRSS6, XRCC2, YARS2 |
41 | Rối loạn đông/cầm máu | Bleeding disorder/coagulopathy | SLC3ABCG5, ABCG8, ADAMTS13, ANKRD26, AP3B1, BLOC1S6, DTNBP1, ETV6, F2, F5, F7, F8*, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP9, HOXA11, HPS1*, HPS3*, HPS4, HPS5, HPS6, ITGA2, ITGA2B, ITGB3, LMAN1, MASTL, MCFD2, MECOM, MPL, MYH9, NBEAL2, P2RY12, PROC, PROS1*, RUNX1, SERPINC1, SRC, TBXA2R, THBD, THPO, TUBB1, VKORC1, VWF*, WAS, WIPF19A4 |
42 | Hội chứng Bloom | Bloom syndrome | BLM |
43 | Suy tuỷ xương | Bone marrow failure syndrome | ACTB*, AK2, ANKRD26, AP3B1, ATM, ATR, BLM, BLOC1S6, BRAF*, BRCA1*, BRCA2, BRIP1, CBL, CDKN2A, CEBPA, CSF2RA*, CSF3R, CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, EPCAM, ERCC4, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, G6PC3, GATA1, GATA2, GFI1, HAX1, HPS1*, HPS3* ,HPS4 ,HPS5, HPS6, HRAS, IFNGR2, ITK, KRAS*, LAMTOR2, LYST*, MAGT1, MAP2K1, MAP2K2, MKL1, MLH1, MPL, MSH2, MSH6, MYO5A, NBN, NF1*, NOP10, NRAS, PALB2, PAX5, PMS2*, PRF1, PTPN11, RAB27A, RAC2, RAD51C, RECQL4, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26, RUNX1, SAMD9, SH2D1A, SLC37A4, SLX4, SOS1, SRP72*, STX11, STXBP2, TERC, TERT, THPO, TINF2, TP53, UNC13D, USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP*, XRCC2 |
44 | Thiếu yếu tố đông máu | Coagulation factor deficiency | F2, F5, F7, F8*, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, GGCX, LMAN1, VKORC1, VWF* |
45 | Giảm bạch cầu hạt bẩm sinh | Congenital neutropenia | ACTB*, CSF2RA*, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1, IFNGR2, LAM- TOR2, LYST*, MKL1, RAC2, SLC37A4, SRP72*, VPS13B, WAS |
46 | Thiếu máu Diamond–Blackfan | Diamond-Blackfan anemia | GATA1, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26 |
47 | Thiếu máu Fanconi | Fanconi anemia | ATM, ATR, BLM, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51C, SLX4, XRCC2 |
48 | Ung thư bạch cầu di truyền | Hereditary leukemia | ANKRD26, ATM, BLM, BRAF*, BRCA1*, BRCA2, CBL, CDKN2A, CEBPA, DKC1, EPCAM, ETV6, FANCA, GATA2, HRAS, KRAS*, MAP2K1, MAP2K2, MLH1, MSH2, MSH6, NBN, NF1*, NRAS, PAX5, PMS2*, PTPN11, RUNX1, SOS1, SRP72*, TERC, TERT, TINF2, TP53 |
49 | Rối loạn chức năng tiểu cầu | Platelet function disorder | AP3B1, BLOC1S6, DTNBP1, GP1BA, GP9, HPS1*, HPS3*, HPS4, HPS5, HPS6, ITGA2B, ITGB3, NBEAL2, P2RY12, RUNX1, TBXA2R, THPO, WIPF1 |
50 | Rối loạn màng hồng cầu | Red blood cell membrane disorder | ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB |
51 | Giảm tiểu cầu | Thrombocytopenia | ABCG5, ABCG8, ADAMTS13, ANKRD26, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MECOM, MPL, MYH9, NBEAL2, RUNX1, SRC, THBD, TUBB1, WAS, WIPF1 |
52 | Bất thường hệ bạch huyết | Lymphatic malformations and related disorders | CCBE1, FLT4, FOXC2, GATA2, GJC2, KIF11, PIK3CA*, RASA1, SOX18 |
Mắt | |||
53 | Mù màu | Achromatopsia | ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP |
54 | Đục thuỷ tinh thể | Cataract | ABCB6, ADAMTS18, ADAMTSL4, AGK*, ALDH18A1, BCOR, BFSP1, BFSP2, CHMP4B, COL2A1, COL4A1, COL11A1, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2*, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPHA2, ERCC2, ERCC5, ERCC6*, ERCC8, EYA1, FAM126A, FOXE3, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SLC16A12, SLC33A1*, TDRD7, TFAP2A, TMEM70, VIM, VSX2, WFS1, WRN* |
55 | Loạn dưỡng tế bào hình nón, hình que | Cone rod dystrophy | ABCA4, ADAM9, ADAMTS18, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A |
56 | Mù về đêm bẩm sinh | Congenital stationary night blindness | CABP4, CACNA1F, CACNA2D4, CYP4V2, GNAT1, GNB3, GPR179, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1 |
57 | Loạn dưỡng giác mạc | Corneal dystrophy | CHRDL1, CHST6, COL5A1, COL8A2, COL17A1, CYP4V2, DCN, FOXE3, GJA8, GSN, KERA, KRT3, KRT12, LCAT, LOXHD1, MAF, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1, ZNF469 |
58 | Lạc vị thuỷ tinh thể | Ectopia lentis | AASS, ADAMTS10, ADAMTS17, ADAMTSL4, BCOR, CBS, COL18A1, FBN1, LTBP2, PORCN, SUOX, VSX2 |
59 | Võng mạc lốm đốm | Flecked retina disorders | ABCA4, CHM, CYP4V2, ELOVL4, PLA2G5, PRPH2, RDH5, RHO, RLBP1, RS1, VPS13B |
60 | Chứng mù bẩm sinh Leber | Leber congenital amaurosis | AIPL1, ALMS1*, BBS4, CABP4, CEP290*, CNGA3, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 |
61 | Loạn dưỡng điểm vàng | Retinal dystrophy | CIB2, CLRN1, DFNB31, HARS*, MABCA4, BEST1, CDH3, CERKL, CNGB3, CRB1, CRX, EFEMP1, ELOVL4, IMPG2, MFSD8, PRPH2, RAX2, RDH5, RDH12, RLBP1, RP1L1, RPGR, RS1, TIMP3YO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A |
62 | Tật mắt nhỏ, tật không nhãn cầu | Microphthalmia, anophthalmia and anterior segment dysgenesis | ABCB6, ADAMTS18, BCOR, BMP4, BMP7, CHD7, COL4A1, COX7B, CYP1B1, ERCC2, ERCC5, ERCC6*, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GRIP1, HCCS, HESX1, HMX1, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, PXDN, RAB3GAP1, RAX, RBP4, SHH, SIX3, SIX6, SMCHD1, SMOC1, SOX2*, STRA6, TFAP2A, VPS13B, VSX2, ZIC2 |
63 | Bệnh lý thần kinh thị giác | Neuro-ophthalmology | ACO2, ANTXR1, APTX, CHN1, CISD2*, FRMD7, GPR143, HESX1, KIF21A, MFN2, NDUFS1, NR2F1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, PRPS1*, ROBO3, RRM2B, SALL4, SETX, SLC25A4, SOX2*, SPG7, TIMM8A*, TK2, TMEM126A, TUBB3*, TYMP, WFS1 |
64 | Teo gai thị | Optic atrophy | ACO2, CISD2*, MFN2, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1*, SLC52A2, SNX10, SPG7, TIMM8A*, TMEM126A, WFS1 |
65 | Loạn dưỡng võng mạc | Macular dystrophy | ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADIPOR1*, AHI1, AIPL1, ALMS1*, ARL6, ARL13B, ATF6, ATOH7, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH3, CDH23, CDHR1, CEP41, CEP164, CEP290*, CERKL, CHM, CIB2, CISD2*, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX, CTC1, CTNNB1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4, EYS*, FAM161A, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR179, GRM6, GUCA1A, GUCY2D, HARS*, HGSNAT, HK1, HMX1, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIF7, KIF11, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5*, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, PITPNM3, PLA2G5, PNPLA6, PRCD, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, PRPS1*, RAX2, RBP3, RBP4, RD3, RDH5, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SNRNP200, SPATA7, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A*, TIMP3, TMEM67, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TOPORS, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, ZNF423, ZNF513 |
66 | Viêm võng mạc sắc tố | Retinitis pigmentosa | EYS*, FAM161A, FLVCR1, GNPTG, GUCY2D, HGSNAT, HK1, IDH3B, IFT140, IMPDH1, IMPG2, INPP5E, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MVK, NMNAT1, NR2E3, NRL, OAT, OFD1, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PRPF3, PRPF8, PRPF31, PRPH2, RBP3, RBP4, RDH5, RDH12, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF513 |
67 | Bệnh dịch kính – võng mạc | Vitreoretinopathy | ATOH7, BEST1, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTC1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5*, NDP, NR2E3, RS1, TSPAN12, VCAN |
68 | Tăng nhãn áp | Glaucoma | CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, TBK1, TEK, TMEM126A, WDR36 |
Miễn dịch | |||
69 | Hội chứng tự viêm | Autoinflammatory syndrome panel | ACP5, ADAR, CARD14, DDX58, ELANE, IFIH1, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1, NLRP3, NLRP12, NOD2, PLCG2, PSENEN, PSMB8, PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3, TMEM173, TNFRSF1A, TREX1 |
70 | Hội chứng suy tuỷ xương | Bone marrow failure syndrome | WRAP53, XIAP*, XRCC2 |
71 | U hạt mãn tính | Chronic granulomatous disease | CYBA, CYBB, G6PD, NCF2, NCF4, NOD2 |
72 | Rối loạn hệ thống bổ thể | Complement system disorder | ADIPOQ, ADIPOR1*, C1QA, C1QB, C1QC, C1S, C2*, C3, C3AR1, C5, C5AR2, C6, C7, C8A, C8B, C9, CCDC39, CCDC40, CCDC103, CD46*, CD55, CD59, CFD, CFH*, CFI, CFP, CLU, COLEC11, CR2, CRP, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, FCN2, FCN3, LRRC6, MASP1, MASP2, NME8, OFD1, PIGA*, RSPH4A, RSPH9, SERPING1, THBD, VSIG4 |
73 | Giảm bạch cầu hạt bẩm sinh | Congenital neutropenia | ACTB*, CSF2RA*, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1, IFNGR2, LAM- TOR2, LYST*, MKL1, RAC2, SLC37A4, SRP72*, VPS13B, WAS |
74 | Suy giảm miễn dịch nguyên phát | Primary immunodeficiency | ACP5, ACTB*, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ATM, BCL10, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2*, C3, CARD9, CARD11, CARD14, CASP8, CASP10, CD3D, CD3E, CD3G, CD8A, CD19, CD27, CD40, CD40LG, CD46*, CD55, CD59, CD79A, CD79B, CD81, CD247, CEBPE, CFD, CFH*, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, COLEC11, CORO1A*, CR2, CSF2RA*, CSF2RB, CSF3R, CTC1, CTLA4, CTSC, CXCR4, CYBA, CYBB, DCLRE1C*, DDX58, DGKE, DKC1, DNMT3B, DOCK8, ELANE, EXTL3, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GFI1, HAX1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1*, IKBKB, IL1RN, IL2RA, IL2RG, IL7R, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4, IRF8, ITGB2, ITK, JAK3, KRAS*, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LYST*, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF2, NCF4, NCSTN, NFKB2, NFKBIA, NHEJ1, NLRP1, NLRP3, NLRP12, NOD2, NOP10, NRAS, OFD1, ORAI1, PEPD, PIGA*, PIK3CD* ,PIK3R1, PLCG2, PMS2*, PNP, POLE2, PRF1, PRKDC, PSENEN ,PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RECQL4, RFX5, RFXANK, RFXAP, RHOH, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMD9, SAMHD1, SERPING1, SH2D1A, SLC7A7, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SP110, SPINK5, SRP72*, STAT1, STAT3, STAT5B*, STIM1 ,STK4, STX11, STXBP2, TAP2, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TMC6, TMC8, TMEM173, TNFRSF1A, TNFRSF13B, TRAF3IP2, TREX1, TYK2, UNC13D, UNC93B1*, UNC119, UNG, USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP*, ZAP70, ZBTB24 |
Nội tiết | |||
75 | Tiểu đường đơn gen | Monogenic diabetes mellitus | HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC2A2, SLC16A1, UCP2, WFS1 |
76 | Bất thường cơ quan sinh dục | Abnormal genitalia/ disorders of sex development | AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41, CHD7, CREBBP, CYP11A1, CYP11B1*, CYP19A1, CYP21A2*, DHCR7, DHH, DYNC2H1, ERCC3, FGF8, FGFR1, FIG4, FRAS1, GATA4, GNRHR, HSD3B2, HSD17B3, IRF6, KISS1R, LHCGR, MAMLD1, MAP3K1, MKS1, NR5A1, NR0B1, POR, PROK2, RSPO1, SOX9, SRD5A2, SRY, STAR, TACR3, WT1, ZFPM2 |
77 | Tăng sản thượng thận bẩm sinh | Congenital adrenal hyperplasia | CYP11A1, CYP11B1*, CYP21A2*, HSD3B2, POR, PRKAR1A, STAR |
78 | Thiếu glucocorticoid | Glucocorticoid deficiency | MC2R, MRAP, NNT, NR3C1, POMC, STAR |
79 | Cường cận giáp | Hyperparathyroidism | AIRE, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, PTH, RET |
80 | Hạ đường huyết, tăng insuline máu và chuyển hóa keton | Hypoglycemia, hyperinsulinism and ketone metabolism | ABCC8, ACAT1, ACSF3, AGL, ALDOA, ALDOB, EPM2A, FBP1, G6PC, GAA, GBE1, GCK, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF4A, INSR, KCNJ11, LAMP2, LDHA, MPV17, NHLRC1, OXCT1, PC, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG3, PTF1A, PYGL, PYGM, SLC2A2, SLC16A1, SLC37A4, UCP2 |
81 | Suy giáp và đề kháng hormone giáp | Hypothyroidism and resistance to thyroid hormone | DUOX2*, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC5A5, SLC16A2, SLC26A4, TG, THRA, THRB, TPO, TSHB, TSHR |
82 | Hội chứng Kallmann | Kallmann syndrome | CHD7, FGF8, FGFR1, GNRHR, KISS1R, PROK2, PROKR2, TACR3 |
83 | Tiểu đường khởi phát tuổi trưởng thành | Maturity-onset diabetes of the young (MODY) | ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, PAX4, PDX1, RFX6 |
84 | Béo phì | Monogenic obesity | ADCY3, ALMS1*, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290*, CUL4B, GNAS, LEP, LEPR, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, PPARG, SDCCAG8, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP |
85 | Suy buồng trứng sớm | Premature ovarian failure | BMP15, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX, NR5A1, POLG, POR, STAR, WT1 |
Tai mũi họng | |||
86 | Hội chứng Alport | Alport syndrome | CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9 |
87 | Hội chứng Branchio–Oto–Renal | Branchio-Oto-Renal syndrome | EYA1, SIX1, SIX5, TFAP2A |
88 | Mất thính lực và điếc | Comprehensive hearing loss and deafness | ABHD12, ACTG1*, AIFM1, ALMS1*, ANKH, ATP6V1B1, BCS1L, BSND, BTD, CABP2, CAC- NA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCAF17, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN*, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXI1, GATA3, GIPC3,GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS*, HARS2, HGF, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MET, MGP, MIR96, MITF, MSRB3, MYH9, MYH14, MYO3A, MYO6, MYO7A,MYO15A, NARS2, NDP,NLRP3, OTOF, OTOG, OTOGL,PAX3, PCDH15, PDZD7, PEX1, PEX6, PEX26, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1*, RDX*, RMND1*, RPS6KA3, SALL1*, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1*, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A*, TJP2, TMC1, TMIE, TM- PRSS3, TPRN, TRIOBP, TRMU, TSPEAR*, TYR*, USH1C, USH1G, USH2A, VCAN, WFS1 |
89 | Giãn mao mạch xuất huyết di truyền | Hereditary hemorrhagic telangiectasia | ACVRL1, ENG, RASA1, SMAD4 |
90 | Hội chứng Pendred | Pendred syndrome | FOXI1, KCNJ10, SLC26A4 |
91 | Hội chứng Stickler | Stickler syndrome | COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LRP2, VCAN |
92 | Hội chứng Usher | Usher syndrome | CIB2, CLRN1, DFNB31, HARS*, MYO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A |
93 | Hội chứng Waardenburg | Waardenburg syndrome | EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10 |
Thận | |||
94 | Hội chứng Bardet–Biedl | Bardet-Biedl syndrome | ALMS1*, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8ORF37, CEP290*, IFT172, LZTFL1, MKKS, MKS1, PNPLA6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP |
95 | Hội chứng Bartter | Bartter syndrome | BSND, CASR, CLCNKA*, CLCNKB*, KCNJ1, SLC12A1, SLC12A3 |
96 | Bệnh lông chuyển | Ciliopathy | ACVR2B, AHI1, ALMS1*, ANKS6, ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, C8ORF37, CC2D2A, CEP41, CEP164, CEP290*, DHCR7, DYNC2H1, EVC, EVC2, FAM58A, GLI2, GLI3, GLIS2, HYLS1, IFT43, IFT80, IFT122*, IFT140, IFT172, INPP5E, INVS, IQCB1, KIF7, LEFTY2*, LZTFL1, MKKS, MKS1, NEK1, NEK8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PKD1*, PKD2, PKHD1, PMM2, PNPLA6, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TCTN3,TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TRIM32, TTC8, TTC21B, USP9X, WDPCP, WDR19, WDR35, ZIC3, ZNF423 |
97 | Nang thận | Cystic kidney disease | ANKS6, CEP164, CEP290*, COL4A1, EYA1, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5*, NEK8, NOTCH2*, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1*, PKD2, PKHD1, RPGRIP1L, SDCCAG8, SIX5, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423 |
98 | Đái tháo nhạt | Diabetes insipidus | AQP2, AVP, AVPR2 |
99 | Hội chứng tán huyết ure | Hemolytic uremic syndrome | ADAMTS13, C3, CD46*, CFH*, CFHR5, CFI, DGKE, THBD |
100 | Hội chứng Joubert | Joubert syndrome | AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP41, CEP164, CEP290*, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TTC21B, ZNF423 |
101 | Hội chứng Liddle | Liddle syndrome | SCNN1B, SCNN1G |
102 | Hội chứng Meckel | Meckel syndrome | B9D1, B9D2, CC2D2A, CEP290*, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM67, TMEM216, TMEM231 |
103 | Sỏi thận | Nephrolithiasis | ADCY10, AGXT, ALPL, APRT, ATP6V1B1, ATP6V0A4, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MOCOS, MOCS1*, OCRL, SLC2A9, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, SLC12A1, SLC22A12, SLC26A1, SLC34A1, SLC34A3, VDR, XDH |
104 | Nephronophthisis | Nephronophthisis | ANKS6, CEP164, CEP290*, GLIS2, IFT172, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423 |
105 | Hội chứng thận hư | Nephrotic syndrome | ACTN4*, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, DGKE, FAN1, FN1, INF2, ITGA3, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1 |
106 | Thận đa nang | Polycystic kidney disease | JAG1, LRP5*, NOTCH2*, PKD1*, PKD2, PKHD1, PRKCSH, SEC63 |
107 | Rối loạn vận động long chuyển nguyên phát | Primary ciliary dyskinesia | CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, HYDIN, INVS, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9 |
108 | Tăng oxalate niệu nguyên phát | Primary hyperoxaluria | AGXT, GRHPR, HOGA1 |
109 | Giảm aldosteron giả | Pseudohypoaldosteronism | CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4 |
110 | Dị dạng thận | Renal malformation | ACE, AGT, BMP4, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3, HNF1B, PAX2, PBX1*, REN, RET, ROBO2*, SALL1*, SIX1, SIX5, WT1 |
111 | Toan hoá ống thận | Renal tubular acidosis | ATP6V1B1, ATP6V0A4, CA2, SLC4A1, SLC4A4 |
112 | Hội chứng Senior-Loken | Senior-Loken syndrome | CEP290*, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8 |
Thần kinh | |||
113 | Teo cơ xơ cứng cột bên | Amyotrophic lateral sclerosis | ALS2, ANG, ATL1, BSCL2, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, KIAA0196, KIF5A, OPTN, PRF1, REEP1, SLC52A3, SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP*, UBQLN2, VAPB, VCP |
114 | Thất điều | Ataxia | ABCB7, ABHD12, ACO2, ADCK3, AFG3L2*, AHI1, ALDH5A1, ANO10, APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, ATP8A2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP41, CEP290*, CLCN2, CLN5, CP*, CSTB, CYP2U1, CYP27A1, DNAJC19, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN*, GFAP, GOSR2*, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKKS, MKS1, MME, MRE11A, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L, SACS, SERAC1, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SLC20A2, SLC52A2, SPG7, SPTBN2, SYNE1, SYT14*, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TPP1, TRIM32, TTBK2, TTC8, TTC19, TTPA, VLDLR, WDPCP, WDR81, WFS1, WWOX, ZFYVE26, ZNF423 |
115 | Tự kỷ | Autism spectrum disorders | BCL11A, CACNA1C*, CC2D1A, CTNND2, DHCR7, EN2, FOXP1, GAMT, MECP2, NLGN3, NLGN4X, NSD1, POGZ, PTCHD1, PTEN*, RPL10, SHANK3, TRIP12, TSC1, TSC2 |
116 | Dị dạng mạch máu não | Cerebral cavernous malformation | CCM2, KRIT1, PDCD10, RASA1 |
117 | Charcot–Marie–Tooth | Charcot-Marie-Tooth neuropathy | AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HARS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22 ,POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26 |
118 | Suy giảm coenzyme Q10 | Coenzyme Q10 deficiency | ADCK3, ANO10, APTX, COQ2, COQ5, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2 |
119 | Rối loạn liên quan collagen loại VI | Collagen type VI-related disorders | COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1 |
120 | Động kinh | Comprehensive epilepsy | ABAT, ABCD1*, ADAR, ADSL, AFG3L2*, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS*, ASPA, ATP1A3, ATP13A2, ATRX, BRAT1, BTD, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, COX6B1, COX15, CPT2, CSF1R, CSTB, CTC1, CTSD, CUL4B, CYP27A1, D2HGDH, DARS2, DCX, DDC, DNAJC5, DNM1*, DNM1L, DOCK7, DPYD, DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FH, FLNA, FOLR1, FOXG1, FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GFM1, GJC2, GLB1, GLDC, GLRB, GNE, GOSR2*, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HEPACAM, HIBCH, HNRNPU, HSD17B10, HTRA1, HTT, IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7*, KDM5C, KIF1A, L2HGDH, LGI1, LMNB1, LRPPRC, MAGI2, MARS2, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1*, MTFMT, MTHFR, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NHLRC1, NOTCH3, NRXN1, NUBPL, OFD1, OPHN1, PCDH19, PGK1, PHF6, PIGA*, PIGN*, PIGO, PIGV, PLCB1, PLP1, PNKP, PNPO, POLG, POLR3A, POLR3B, PPT1*, PRICKLE1, PRODH*, PRRT2, PSAP, PTS, QDPR, RAB39B, RELN, RMND1*, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A15*, SLC25A22, SLC46A1, SMS, SNAP25, SOX10, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TBL1XR1*, TCF4, TPP1, TREX1, TSC1, TSC2, TTC19, UBE2A, UBE3A*, UNC80, VPS13A, WDR45, WWOX, YY1, ZEB2*, ZFYVE26 |
121 | Bệnh lý cơ / loạn dưỡng cơ | Comprehensive muscular dystrophy / myopathy | ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, FLNC*, GAA, ISPD, ITGA7, KBTBD13, LAMA2, LARGE, LDB3, LMNA, MEGF10, MME, MTM1, MYH7, MYOT, NEB*, PNPLA2, POLG, POMT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TMEM43, TNNT1, TPM2, TPM3*, TRIM32, TTN*, VMA21, VPS13A |
122 | Hội chứng nhược cơ bẩm sinh | Congenital myasthenic syndromes | AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1 |
123 | Sa sút trí tuệ | Dementia | APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP*, TREM2, UBE3A*, UBQLN2, VCP |
124 | Loạn trương lực cơ | Dystonia | ADCY5, ANO3, ATP1A3, DCAF17, FA2H, GCH1, PDGFB, PDGFRB, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A |
125 | Loạn dưỡng cơ Emery-Dreifuss | Emery-Dreifuss muscular dystrophy | DMD, EMD, FHL1*, LMNA, TMEM43, TTN* |
126 | Bệnh não do động kinh | Epileptic encephalopathy | ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS*, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, D2HGDH, DCX, DNM1*, DNM1L, DOCK7, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HEPACAM, HIBCH, HNRNPU, HTT, KCNQ2, KCNQ3, KCNT1, KIF1A, LRPPRC, MBD5, MECP2, MEF2C, MOCS1*, MTFMT, MTHFR, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NRXN1, NUBPL, PCDH19, PIGA*, PLCB1, PNKP, PNPO, POLG, RMND1*, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SDHAF1, SERAC1, SLC2A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A22, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1, TSC1, TSC2, TTC19, UBE3A*, UNC80, WDR45, WWOX, ZEB2* |
127 | Holoprosencephaly | Holoprosencephaly | CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2 |
128 | Loạn dưỡng và bệnh não chất trắng | Leukodystrophy and leukoencephalopathy | ABCD1*, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1*, ARSA, ASPA, CLCN2, COL4A1, COX6B1, COX15, CSF1R, CTC1, CYP27A1, D2HGDH, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH, HTRA1, L2HGDH, LMNB1, MARS2, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26 |
129 | Loạn dưỡng cơ chi (LGMD) và loạn dưỡng cơ bẩm sinh | LGMD and congenital muscular dystrophy | ANO5, B3GALNT2, CAPN3, CAV3, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, MEGF10, MYH7, MYOT, PNPLA2, POMT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TRIM32, TTN*, VMA21 |
130 | Tật không hồi não | Lissencephaly | ACTB*, ACTG1*, ARX, ATP6V0A2, DCX, FKTN, ISPD, LAMB1, LARGE, PAFAH1B1, POMT1, RELN, TUBA1A*, VLDLR, YWHAE |
131 | Tật đầu to | Macrocephaly / overgrowth syndrome | AKT1, AKT3, ASPA, BRWD3, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, MPDZ, NFIX, NSD1, OFD1, PIGA*, PIK3CA*, PIK3R2, PTCH1, PTEN*, RAB39B, RNF135, SETD2, SYN1, TSC1, TSC2, UPF3B |
132 | Chứng đầu nhỏ và giảm sản cầu tiểu não | Microcephaly and pontocerebellar hypoplasia | AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62, XRCC4 |
133 | Đau nửa đầu | Migraine | ATP1A2, ATP1A3, CACNA1A, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1 |
134 | Bệnh Parkinson | Parkinson disease | ATP1A3, ATP13A2, DNAJC6, FBXO7, GCH1, LRRK2, MAPT, PARK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, SLC6A3, SLC20A2, SNCA, SPR, TH, VPS13A, VPS35* |
135 | Liệt chu kỳ | Periodic paralysis | CACNA1S, CLCN1, KCNJ2, SCN4A |
136 | Dị dạng nhiều hồi não | Polymicrogyria | AKT3, FH, GPSM2, LAMC3, NDE1, NSDHL, SRPX2, TUBA1A*, TUBA8, TUBB3*, WDR62 |
137 | Liệt hai chi dưới thể co cứng | Spastic paraplegia | ABCD1*, AFG3L2*, ALS2, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ATL1, B4GALNT1, BSCL2, BTD, CTNNB1, CYP2U1, CYP7B1, CYP27A1, DDHD1, DDHD2, FA2H, FARS2, FXN*, GALC, GBE1, GCH1, GJC2, HACE1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM, L2HGDH, MARS2, NIPA1, PAH, PLP1, PNPLA6, REEP1, SACS, SETX, SLC16A2, SLC25A15*, SLC33A1*, SPAST, SPG7, SPG11, SPG20, SPR, TH, ZFYVE26 |
138 | Teo cơ tuỷ | Spinal muscular atrophy | AARS, ASAH1, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L*, PLEKHG5, REEP1, SCO2, SLC5A7, TBCE, TRPV4, UBA1, VAPB, VRK1 |
139 | Xơ cứng củ | Tuberous sclerosis | TSC1, TSC2 |
140 | Giảm trí não liên-kết-X | X-Linked intellectual disability | ABCD1*, ACSL4, AFF2, AP1S2*, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DDX3X, DKC1, DLG3, ELK1*, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK*, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS*, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1*, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5*, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1*, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC6A8*, SLC9A6, SLC16A2, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A*, TSPAN7, UBE2A, UPF3B, USP9X, ZCCHC12, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711 |
Tiêu hóa | |||
141 | Ứ mật | Cholestasis | ABCB4, ABCB11, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CREB3L3, CYP7B1, DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LMF1, MKS1, MYO5B*, NEUROG3, NOTCH2*, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX2, PEX5, PEX6, PEX10, PEX12, PEX26, SERPINA1, SLC25A13, SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1, VIPAS39, VPS33B |
142 | Tiêu chảy bẩm sinh | Congenital diarrhea | ADAM17, CYP27A1, EPCAM, FOXP3, GUCY2C, IL10, IL10RA, IL10RB, LCT, LIPA, MVK, MYO5B*, NCF2, NEUROG3, SAR1B, SI, SLC5A1, SLC9A3, SLC10A2, SLC26A3, SPINT2, TTC37, XIAP* |
143 | Xơ gan bẩm sinh | Congenital hepatic fibrosis | AHI1, ANKS6, ARL6, ARL13B, B9D1, B9D2, BAAT, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, CC2D2A, CEP41, CEP164, CEP290*, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, PKD2, PKHD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TRIM32, TTC8, TTC21B, WDR19, WDR35, ZNF423 |
144 | Hẹp đường tiêu hoá | Gastrointestinal atresia | CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1*, MYCN, PTF1A, RFX6, SOX2* |
145 | Hirschsprung | Hirschsprung disease | BDNF, EDN3, EDNRB, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, SOX10, ZEB2* |
146 | Viêm tụy | Pancreatitis | APOA5, CFTR, CTRC, GPIHBP1, PRSS1*, SPINK1, UBR1 |
147 | Gan đa nang | Polycystic liver disease | LRP5*, PKD1*, PKD2, PRKCSH, SEC63 |
148 | Chuyển vị bất thường và đảo ngược phủ tạng | Heterotaxy and situs inversus | ACVR2B, ANKS6, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1, GDF1, INVS, LEFTY2*, LRRC6, NODAL, ZIC3 |
Tim mạch | |||
149 | Loạn nhịp tim | Arrhythmia | ABCC9, AKAP9, ANK2, BAG3, CACNA1C*, CACNB2, CALM1*, CALM3, CASQ2, CAV3, CTNNA3, DBH, DES, DSC2, DSG2, DSP, FLNC*, GATA6, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYH6, MYH7, NKX2-5, NOS1AP, NUP155, PKP2*, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, TBX5, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN* |
150 | Bệnh cơ tim | Cardiomyopathy | AARS2, ABCC6*, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK*, AGL, ALMS1*, ANO5, APOA1, BAG3, BRAF*, CALR3, CAPN3, CASQ2, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NRAS, PCCA, PCCB, PKP2*, PLEC, PNPLA2, PRDM16, PTPN11, RAF1, RBM20, RMND1*, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA*, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM32, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK |
151 | Bệnh động mạch chủ | Aorta disease | ABCC6*, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN,ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GATA5, MYH11, NOTCH1, PLOD1, SKI,SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469 |
152 | Bệnh tim bẩm sinh | Congenital structural heart disease | ABL1, ACTA2, ACTB*, ACTC1, ACTG1*, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, B3GAT3*, BCOR, BMPR2, CBL, CDK13, CHD4, CHD7, CRELD1, CTC1, DHCR7, EFTUD2, EIF2AK4, ELN, ENG, FLNA, GATA4, GATA5, GATA6, GDF1, GJA1*, GJA5, GPC3, HAND1, HOXA1, HRAS, JAG1, LEFTY2*, MEIS2, MYCN, NAA15, NF1*, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2*, NR2F2, NSD1, PITX2, PPP1CB#, PRKD1, RBM10, SALL4, SOS2, TAB2, TBX1, TBX5, TBX20*, TFAP2B, TGDS, TLL1, ZFPM2, ZIC3 |
153 | Tăng áp động mạch phổi | Pulmonary artery hypertension | ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, KCNK3, NFU1, SMAD4, TBX4 |
154 | Hội chứng Marfan | Marfan syndrome | ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2, EFEMP2, FBN1, FBN2, MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN |
155 | Hội chứng Noonan | Noonan syndrome | ACTB*, ACTG1*, BRAF*, CBL, HRAS, KRAS*, MAP2K1, MAP2K2, NF1*, NRAS, NSUN2, PTPN11, RAF1, SHOC2, SOS1, SPRED1 |
156 | Giãn mao mạch di truyền xuất huyết | Hereditary hemorrhagic telangiectasia (HHT) | ACVRL1, ENG, SMAD4 |
157 | Tăng lipid máu | Hyperlipidemia | ABCA1, ABCG5, ABCG8, ALMS1*, APOA1, APOA5, APOB, APOC2, APOC4, APOE, CREB3L3, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9 |
Xương khớp sụn | |||
158 | Hội chứng 3-M/ lùn nguyên thủy | 3-M syndrome / primordial dwarfism | ATR, BCS1L, CCDC8, CDC6, CDT1, CENPJ, CEP63, CEP152, CUL7, NOTCH2*, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RTTN, SRCAP, TRIM37, XRCC4 |
159 | Tạo men răng bất toàn và tạo ngà răng bất toàn | Amelogenesis imperfecta and dentinogenesis imperfecta | AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, ITGB6, KLK4, LAMB3, LTBP3, MMP20, WDR72 |
160 | Chứng co cứng khớp | Arthrogryposes | ACTA1, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, EGR2, ERBB3, ERCC5, ERCC6*, EXOSC3, FBN2, FHL1*, FKBP10, FKTN, FLVCR2, GBA*, GBE1, GFPT1, GLE1, KAT6B, LMNA, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB*, PLOD2, PMM2, RAPSN, RARS2, RIPK4, SCO2, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2, TPM3*, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1 |
161 | Tật ngón ngắn / tật dính ngón | Brachydactyly / syndactyly | BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13, HOXD13, IHH, MYCN, NOG, PDE4D, PTHLH, RECQL4, ROR2, SOX9, TP63 |
162 | Loạn sinh sụn dạng đốm | Chondrodysplasia punctata | AGPS, ARSE*, EBP, GNPAT, LBR, NSDHL, PEX7, PEX14, PEX19 |
163 | Sứt môi/hở hàm ếch và các hội chứng liên quan | Cleft lip/palate and associated syndromes | COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, FOXE1, IRF6, KDM6A, KMT2D, MSX1, SATB2, TBX22, TP63 |
164 | Rối loạn tăng trưởng / loạn sản xương và các rối loạn | Comprehensive growth disorders / skeletal dysplasias and disorders | CLCN5, CLCN7, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, DDR2, DHCR7, DHCR24, DHODH, DLL3, DLX3, DLX5 ,DMP1, DOCK6, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENAM, ENPP1, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM20A, FAM20C, FAM58A, FAM83H, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GALNT3, GDF5, GH1*, GHR, GHRHR, GLI2, GLI3, GNAS, GNPAT, GPC6, HDAC8, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS*, IFITM5, IFT43, IFT80, IFT122*, IFT140, IFT172, IGF1, IGF1R, IGFALS, IHH, IMPAD1, INSR, IRS1, KAT6B, KIF7, KIF22, KRAS*, LBR, LEMD3, LHX3, LHX4, LIFR, LMNA, LMX1B, LRP4, LRP5*, LTBP2, LTBP3, MAFB, MAP2K1, MAP2K2, MATN3, MBTPS2, MESP2, MGP, MMP2, MMP9, MMP13, MSX2*, MYCN, NF1*, NFIX, NIPBL, NKX3-2, NOG, NOTCH1, NOTCH2*, NPR2, NRAS, NSD1, NSDHL, OBSL1, ORC1, ORC4, ORC6, OSTM1, OTX2, PALB2, PAPSS2, PCNT, PDE4D, PEX7, PEX14, PEX19, PHEX, PIK3CA*, PITX2, PLOD2, POC1A, POLR1C, POLR1D, POR, POU1F1, PPIB, PRKAR1A, PROP1, PTH1R, PTHLH, PTPN11, PYCR1, RAD21*, RAD51C, RAF1, RBBP8, RBPJ*, RECQL4, ROR2, RTTN, RUNX2, SALL1*, SALL4, SERPINF1, SERPINH1, SETBP1, SF3B4, SH3BP2, SH3PXD2B, SHOC2, SHOX*, SKI, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLX4, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SNX10, SOS1, SOST, SOX2*, SOX3, SOX9, SP7, SRCAP, STAT5B*, TBX3, TBX4, TBX5, TBX6, TBX15, TBX19, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRIM37, TRIP11*, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, VIPAS39, WDR19, WDR35, WISP3, WNT5A, WNT7A, XRCC2, XRCC4, XYLT1 |
165 | Hội chứng Cornelia De Lange | Cornelia de Lange syndrome | HDAC8, NIPBL, RAD21*, SMC1A, SMC3 |
166 | Chứng dính liền khớp sọ | Craniosynostosis | ALPL, ALX3, ALX4, BMP4, EDNRB, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GDF5, GLI3, IFT122*, IFT140, IL11RA, MASP1, MEGF8, MSX2*, NOG, PAX3, POR, RAB23, RECQL4, SKI, SOX10, TGFBR1, TGFBR2, TWIST1, TWIST2, WDR19, WDR35 |
167 | Lồi xương và các rối loạn liên quan | Exostosis and related disorders | EXT1, EXT2, PTPN11 |
168 | Loạn phát xương vùng mặt và rối loạn liên quan | Facial dysostosis and related disorders | ALPL, ALX3, ALX4, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1, EP300, EVC, EVC2, HDAC8, HSPG2, LIFR, MYCN, NIPBL, POLR1C, POLR1D, SF3B4, SMC1A, SMC3, SRCAP, TCOF1, TWIST1, UBE2A |
169 | Dị dạng chi | Limb malformations | ARHGAP31, ATR, BHLHA9, BRCA2, BRIP1, DHODH, DLX5, DOCK6, ERCC4, ESCO2, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FGF10, GDF5, HDAC8, NIPBL, NOTCH1, NSDHL, PALB2, RAD21*, RAD51C, RBPJ*, RECQL4, SALL1*, SALL4, SF3B4, SLX4, SMC1A, SMC3, TBX3, TBX5, TP63, WNT7A, XRCC2 |
170 | Hội chứng đầu to | Lymphatic malformations and related disorders | AKT1, AKT3, ASPA, BRWD3, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, MPDZ, NFIX, NSD1, OFD1, PIGA*, PIK3CA*, PIK3R2, PTCH1, PTEN*, RAB39B, RNF135, SETD2, SYN1, TSC1, TSC2, UPF3B |
171 | Hội chứng Meier–Golin | Meier-Gorlin syndrome | CDC6, CDT1, ORC1, ORC4, ORC6 |
172 | Chứng đầu nhỏ và giảm sản cầu tiểu não | Microcephaly and pontocerebellar hypoplasia | AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62, XRCC4 |