疾病名称 遗传方式 罕见病 相关基因
Amyotrophic Lateral Sclerosis 1 常隐 常显 ✔ SOD1，DCTN1，C9orf72，NEFH，PRPH，VCP，TBK1，UBQLN2，OPTN，SCAF4
Amyotrophic Lateral Sclerosis 7 其他 ✔ CHMP2B，RTP5，ARF4，ALS2，RTF2，TYW5，SNX32
Amyotrophic Lateral Sclerosis 3 常显 ✔ SQSTM1，TYROBP，TREM2，CLDN11，TREM1，SNAP25，HSPD1，DIABLO，CYP2C19，DLG4
Amyotrophic Lateral Sclerosis 9 未知 ✔ ANG,RNASE4,CHMP2B,RTP5,AIRE,KIF5A,PPP1R14C,NID1,SUPT20H
Amyotrophic Lateral Sclerosis 8 常显 ✔ CYLD，ALS2，VAPA，SOD1，RMDN3，SETX，TARDBP，YIF1A，FIG4
Juvenile Amyotrophic Lateral Sclerosis 常隐 ✔ FUS，ALS2，PLEKHG5，SYNE1，ERLIN1，SIGMAR1，SPG11，SPTLC1，VRK1
Albinism 其他 ✔ TYR，TYRP1，HPS4，GPR143，OCA2，DCT，SLC45A2，SLC24A5，LRMDA，HPS1
Oculocutaneous Albinism 常隐 ✔ OCA2、TYR、SLC24A5、LRMDA、SLC45A2、TYRP1、AP3B1、DCT、MYEF2、HPS6
Albinism-Deafness Syndrome 常隐 ✔ NR1H4、FGF19、DUS3L、C7orf50、CYP7A1、GPBAR1、SLC45A2、SSU72
Oculocutaneous Albinism, Type Viii 常隐 ✔ DCT
Albinism, Oculocutaneous, Type Vi 常隐 ✔ SLC24A5, MYEF2
Albinism, Oculocutaneous, Type Vii 常隐 ✔ LRMDA,WDR45
Leukemia 其他 X FLT3、LIF、LIFR、RUNX1、ABL1、PML、RUNX1T1、ZBTB16、TCL1A、PBX1
Subleukemic Leukemia 其他 ✔ GPM6B、MPO、AIF1、SCGB1A1、DES
Chronic Leukemia 其他 X STAT5A、FSTL3、STAT5B、BCR、STAT3、WT1、SOAT1、ASXL1、TET2、FIP1L1
Myeloid Leukemia 其他 ✔ FLT3、RUNX1、MLF1、ABL1、RUNX1T1、MCL1、ERG、CBFB、MYH11、RARA
Chronic Neutrophilic Leukemia 其他 ✔ CSF3R、KMT2A、SEPTIN11、CSF3、AFF1、SETBP1、ABL1、BIRC3、JAK2、ASXL1
Chronic Eosinophilic Leukemia 其他 ✔ FIP1L1、PDGFRA、PDGFRB、ABL1、FGFR1、JAK2、CHIC2、ETV6、KIT、CHP1
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 常隐 ✔ CYP21A2、TNXB
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 其他 ✔ CYP21A2、TNXB
Dopamine Beta-Hydroxylase Deficiency 常隐 ✔ DBH、DDC、SLC6A2、TH、CYB561、OR5AS1、SNCA、ADRA2C、MAOB、MAOA
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 常隐 ✔ CYP21A2
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 其他 ✔ CYP7A1
Combined Oxidative Phosphorylation Deficiency 21 常隐 ✔ TARS2、TMEM11、MMUT
Angelman Syndrome 常显 ✔ UBE3A、MECP2、CDKL5、GABRG3、TPP1、NPAP1、SNRPN、GABRB3、GABRA5、ATP10A
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 其他 ✔ ATP10、ASNRPN、UBE3A
N Syndrome X显 ✔ POLA1、L3MBTL4、PKDCC、TLX2、ATP6V1D、L3MBTL3、RAB34、MBTD1、CLCN4、TSKU
C Syndrome 常显 ✔ CD96、FGFR1、NPC1、NPC2、MMACHC、HGSNAT、CBS、SMPD1、UGCG、AFP
Perry Syndrome 常显 ✔ DCTN1、CBS、TARDBP、BICD2、CLIP1、DCTN2、VCP、DYNC1H1、GRN、CHMP2B
Gillespie Syndrome 常隐 常显 ✔ ITPR1、PAX6、ITPR2、PITX2、FOXC1、ITPR3、IMMP1L、GLDC、CA8、RNF170
Alport Syndrome X隐 常隐 常显 X染色体 ✔ COL4A5、COL4A3、COL4A4、COL4A6、MYH9、ACSL4、AMMECR1、COL4A1、NPHS2、COL4A2
X-Linked Alport Syndrome X染色体 X隐 ✔ COL4A5、COL4A6、COL4A3、COL4A4、COL4A1、MYH9、COL1A2、COL1A1、COL18A1、NPHS2
Autosomal Dominant Alport Syndrome 常显 ✔ COL4A3、COL4A4、COL4A5、COL4A6、MYH9、IGBP1、COL4A1、 NPHP1、NPHS2、ESPN
Autosomal Recessive Alport Syndrome 常隐 ✔ COL4A4、COL4A3、COL4A5、COL4A6、CERT1、GUSB、NPHS2、COL18A1、NPHS2、COL4A1、IGBP1
Acrorenal Syndrome 常隐 常显 ✔ ZIC3、TLL1、SERPINB6、FOXF2、VSX2、FREM2
Brunner Syndrome X染色体 X显 ✔ MAOA、SLC6A4、COMT、MAOB、DNAJC12、HTR3A、GRIN2B、GRIN2A、TTF2、UBE3B
Marfan Syndrome 常显 ✔ FBN1、TGFBR2、TGFBR1、LTBP2、FBN2、TGFB2、COL2A1、CBS、COL1A2、ELN
Neonatal Marfan Syndrome 常显 ✔ FBN1、DCN、FBN2、GJB2
Joubert Syndrome 8 常隐 ✔ ARL13B、TUBA4A、FOXJ1、PPIB、SUFU、GLI2、KRT8、HDAC6、AURKA、FOXM1
Werner Syndrome 常隐 ✔ WRN、RECQL4、BLM、RECQL、RECQL5、LMNA、PTPN11、FEN1、RPA1、DHX9
Seckel Syndrome 2 常隐 ✔ RBBP8、CEP152、CENPJ 、PCNT、CNTLN、CDK5RAP2、DNA2、RFC2、MCPH1、SPO11
Wolfram Syndrome 常隐 ✔ WFS1 、CISD2、BAMBI、MYO7A、RECK 、EFEMP1、SLC9B1、CISD3、CISD1、ATF6
Orofaciodigital Syndrome X 常显 ✔ RFLNB、HIC2 OFD1、ECEL1、RBM8A、CLCNKA、ESCO2、ROM1
Branchiootorenal Syndrome 常显 X EYA1、SIX1、TFAP2A、SIX5、TJP2、SALL1、PAX2、SIX2、EYA2、EYA4
Brunner Syndrome X染色体 X显 ✔ MAOA、SLC6A4、COMT、MAOB、DNAJC12、HTR3A、GRIN2B、GRIN2A、TTF2、UBE3B
Rapadilino Syndrome 常隐 ✔ RECQL4、WRN、RECQL5、RECQL、RECQL、BLM、RMI1、UBR1、RMI2、CDC45
Clouston Syndrome 常显 ✔ GJB6、GJB2、TUBA3C、TP63、GJB4、GJB3、GJA1、GJB1、GJC1、GJB5
Alazami Syndrome 常隐 ✔ LARP7、CTNNB1
Lynch Syndrome 5 常显 ✔ MSH6 MSH2 MLH1 REEP5 APC AXIN1 PMS2 MTHFR
Usher Syndrome 常隐 ✔ USH2A、MYO7A、USH1C、CLRN1、ADGRV1、PCDH15、CDH23、CIB2、WHRN、ARSG
Ck Syndrome X染色体 X显 ✔ NSDHL、MSMO1、EBP、FDXACB1、HSD17B7、CSAG1、OPLAH、DHCR7、TM7SF2、SC5D
Lymphoproliferative Syndrome 3 常隐 ✔ CD70 PRKCD
Trichohepatoenteric Syndrome 2 常隐 ✔ RBM7、ZCCHC8、EXOSC2、PRPF4、RP9、EXOSC7、EXOSC6、MTREX、DIS3L、PRPF31
Postcholecystectomy Syndrome 其他 X GAST 、SOD1、TRIP4、TRIP4、CCK 、CHD1L、GPT、FGF19
Aarskog-Scott Syndrome X显 常显 常隐 X染色体 ✔ FGD1、GLI3、TSR2、PLEK、ARHGEF2、FGD5、FGD3、CDC42、MCF2、RABIF
Gaucher's Disease 常隐 ✔ CHIT1、PSAP、 UGCG 、CCL18、 MRC1、 LAMP1、 ADA 、MTX1、 CTSD、 IL6
Gaucher Disease, Type I 常隐 ✔ SCARB2、CHIT1、MSH6、UGCG、PSAP、GBA2、SNCA、ASAH1、PINK1、CCL18
Gaucher Disease, Perinatal Lethal 常隐 ✔ GALC、PSAP、LIPA、ASAH1、CHIT1、NPC1、GLA、CD68
Gaucher Disease, Type Iiic 常隐 ✔ PSAP、ARSA、ASAH1、CHIT1、CREG2、DPH7、GRN、PCP2、NAGA、PLBD2
Gaucher Disease, Type Ii 常隐 ✔ PSAP、MMD2、RHOF、PYURF、PANX2、D2HG DH、CHM、ERF、POT1、ACKR1
Gaucher Disease, Type Iii 常隐 ✔ PSAP、ARSA、ASAH1、CHIT1、ABCD4、LMBRD1、OXSM、GRN、RBSN、MARK3
Gaucher Disease, Atypical, Due to Saposin C Deficiency 未知 ✔ PSAP
Phenylketonuria 常隐 ✔ PAH、QDPR、COL1A1、PTS、SLC7A5、G6PD、TH、TTR、BTD、ACADM
Classic Phenylketonuria 常隐 ✔ PAH、QDPR、PTS
Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 常隐 ✔ PAH
Hyperphenylalaninemia, Bh4-Deficient, C 常隐 ✔ QDPR
Hyperphenylalaninemia, Bh4-Deficient, B 常隐 ✔ GCH1、QDPR、PTS、TH、SPR、ANKRD61、PAH、SGCE、CACFD1、THAP1
Marfan Syndrome 常显 ✔ FBN1、TGFBR2、TGFBR1、LTBP2、FBN2、TGFB2、COL2A1、CBS、COL1A2、ELN
Neonatal Marfan Syndrome 常显 ✔ FBN1、DCN、FBN2、GJB2
Perrault Syndrome 3 常隐 ✔ CLPP
Basan Syndrome 常显 ✔ SMARCAD1、PWWP3A、SMARCA2、WDFY1、KIRREL2、EHMT2、SMARCA1、SMARCA5
Joubert Syndrome 8 常隐 ✔ ARL13B、TUBA4A、FOXJ1、PPIB、SUFU、GLI2、KRT8、HDAC6、AURKA、FOXM1
Joubert Syndrome 1 常隐 X染色体 X显 ✔ INPP5E、TCTN2、CPLANE1、TMEM237、AHI1、TMEM67、MKS1、TCTN1、B9D1、B9D2
Joubert Syndrome 3 常隐 ✔ AHI1、NPHP1、CC2D2A、TMEM67、CEP290、TMEM216、RPGRIP1L、TMEM61、ARL13B、MKS1
Joubert Syndrome 6 常隐 ✔ TMEM67、BBS2、TRIM32、IKZF1、TBL1X、COL1A1
Joubert Syndrome 5 常隐 ✔ CEP290、TMEM67、RPGRIP1L、CC2D2A、AHI1、NPHP1、TCTN2、MKS1、ARL13B、TMEM216
Joubert Syndrome 2 常隐 ✔ TMEM216、TMEM67、NPHP1、CC2D2A、AHI1、RPGRIP1L、CEP290、ARL13B、C2CD3、MKS1
Joubert Syndrome 7 常隐 ✔ RPGRIP1L、NPHP4、RCC1L、PSMD2、RPGR、MYO5A、NPHP1、INPP5E、SARS1、PDE6D
Joubert Syndrome 9 常隐 ✔ CC2D2A、PODN
Joubert Syndrome 4 常隐 ✔ NPHP1、MTLN、MALL、NKX2 - 6、PREPL、TAP2
Joubert Syndrome 18 常隐 ✔ TCTN3、HOMEZ、CRELD1、KLF13、LEFTY2、ZIC3
Joubert Syndrome 13 常隐 ✔ TCTN1、TCTN2、TMEM216、CIBAR1、CC2D2A、CCDC78、TMEM67、ZNF555、TTC21B、KIF7
Joubert Syndrome 21 常隐 ✔ CSPP1、ARFGEF1、CEP41、ARL3、KATNIP、CEP104、ARL13A、PLEKHG6、ARL13B、PDE6D
Joubert Syndrome 39 常隐 ✔ TMEM218
Joubert Syndrome 27 常隐 ✔ B9D1
Joubert Syndrome 30 常隐 ✔ ARMC9、TMEM135、RAB3IP、AHI1、RAB8A、SYTL1
Huntington Disease 常显 ✔ HTT、TUG1、JPH3、PRNP、CNR1、SLC2A3、HIP1、HAP1、BDNF、TBX18
Juvenile Huntington Disease 常显 ✔ HTT
Huntington Disease-Like 3 常隐 ✔ 暂无
Huntington Disease-Like 1 常显 ✔ PRNP、DLL1、JPH3、VPS13A、SLX4IP、FRRS1L、TBP、MAGEB10、TMX4、MRFAP1L1
Huntington Disease-Like 2 常显 ✔ JPH3、KLHDC4、VPS13A、ATXN10、MBNL1、JPH4、PPP2R2B、ATXN7、JPH1、NOP56
Huntington Disease-Like Syndrome Due to C9orf72 Expansions 常显 ✔ C9orf72
Collagen Disease 其他 ✔ COL1A1、COL2A1、APOH、THBD、SFTPD、ELN、VWF、COL3A1、COL5A1、CBS
Retinal Disease 其他 ✔ ABCA4、USH2A、MERTK、BBS2、ZNF408、CFAP418、PDE6G、REEP6、AGBL5、ADAM9
Alpha-Thalassemia 常隐 ✔ HBA2、HBA1、HBB、HBZ、ATRX、HBG1、G6PD、DAXX、HELLS、UGT1A1
Thalassemia 其他 ✔ HBB、HBD、HBA2、HBG1、HBA1、ATRX、HBG2、GATA1、AHSP、SUPT5H
Beta-Thalassemia Intermedia 常隐 ✔ HBB、HBE1、HAMP、TMPRSS6、HBG2、KLF1、HBG1、BCL11A、EPO、TFR2
Beta-Thalassemia 常隐 常显 ✔ HBB、HBG1、HBA2、GATA1、AHSP、HFE、TFRC、HBD、HBS1L、KLF1
Hemoglobin E-Beta-Thalassemia Syndrome 常隐 ✔ HBB
Alpha-Thalassemia Myelodysplasia Syndrome 其他 ✔ ATRX、SMARCA2、DAXX、SMARCA4、ZNF526、ASXL1、ARSF、ZNF41、DHR SX、HBG1