Spastic paraplegia

Disease Term Disease ID Gene Symbol References
Spastic Paraplegia C0037772 ABCD1
AMPD2
ABCC6
ATRX
KIF1A 26633545
CACNA1D
CAPN1
ENTPD1
LYST 25519960, 25519961
EPHB1 28488683
ERCC5
B4GALNT1
GBE1
GCH1 21935284
HSPD1
KIF5A 25008398, 18853458, 26543653, 21623771
L1CAM 11438988, 11772994, 7920659, 10469653, 8069317, 19846429, 10797421
LAMB1
MAG
OPA1
PAX3
PLP1
ALDH18A1
RTN2
SLC2A1 27725288
SLC16A2
SPAST
SPG7 11549317
STXBP1
VAMP1
UCHL1
VCP
PDHX
CDK2AP1
GAN
KDM5C 25666439, 22326837
PEX3
USP8
AIFM1
AP4M1
SLC33A1
CYP7B1 23812641, 21623769, 18252231, 24482476, 24117163, 24519355, 21214876, 21541746, 19812052, 19439420, 9802883
TECPR2
WASHC5
AP5Z1
DNM1L
SLC25A15
TFG
FARS2
AP4B1
PNPLA6
AP4S1 27444738
ERLIN2
CCT5
NT5C2
SETX
SPART
ARL6IP1 28471035
DDHD2
ATP13A2
AP4E1
ZFYVE26 18394578, 19805727, 6944241, 27544497
DSTYK
RAB3GAP2 24482476
SACS 19892370, 23250129, 10655055, 21745802, 23497566, 11788093, 18465152
BSCL2
ATL1
UBAP1
REEP2
SPG21
TAPBPL
WDR45B
GJC2 15192806, 18094336, 20513814
KIDINS220
HACE1 26437029
WDR48 24482476
ALS2
GBA2
EPB41L4A
KLC2
REEP1
FA2H
RNASEH2B
SPG11
DDHD1
C19orf12
FAM126A
GPT2
KLC4 26423925
TMEM67 27457812, 10567047
MTRFR
CYP2U1
TOE1
ZFYVE27
NIPA1
CPT1C
VPS37A
IBA57
KY 28488683
BIVM-ERCC5
Spastic Paraplegia, Hereditary C0037773 ABCD1 23664929, 17372139
KIF1A 28832565
EPHB1 28488683
KIF5A 24357685, 28832565
L1CAM 7562969
SPAST 28832565
SPG7 28832565, 23065789, 28362824, 18563470, 29026558, 22571692, 25681447, 20186691, 27957547, 29057857, 18799786, 26756429, 9635427, 23733235, 21623769, 16534102, 23269439
CYP7B1 18252231, 28832565
TECPR2 23176824
PQBP1 14634649
ERLIN1 24482476
PNPLA6 20382209
ERLIN2 23109145, 28832565, 25977983, 29528531
ZFYVE26 28832565
ATL1 29691679
UBAP1 30929741
GBA2 28832565
REEP1 28832565
FA2H 27604308
SPG11 28832565
DDHD1 15786464
C19orf12 28832565
CYP2U1 23176821
NIPA1 28832565
KY 28488683
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE C3810295 AMPD2 24482476, 27159321
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE C4310800 CAPN1 28566166, 27153400
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE C3810289 ENTPD1 24482476, 29691679
ENTPD1-AS1
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE C4225250 MAG 26179919, 24482476, 27606346
Autosomal recessive spastic paraplegia type 70 C4749431, 401835 MARS1 24482476
SLA2
Spastic Paraplegia-50, Autosomal Recessive C2752008 MCM7
AP4M1 29096665, 19559397
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) C1832669 ALDH18A1 29903433, 26026163, 26297558, 26320891
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) C1849115 ALDH18A1
CYP7B1 24658845, 27217339, 22384504, 29126212, 19439420, 26714052, 31337596, 21623769, 24117163, 21452256, 18252231, 23812641, 21214876, 21567895, 21541746
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE C4225272 ALDH18A1 26026163, 26297558, 29903433
Spastic paraplegia 4, autosomal dominant C1866855 SPAST 20562464, 12124993, 22960362, 11039577, 19000169, 16832076, 10610178, 17594340, 10699187, 16240363, 17957230, 20214791, 27334366, 9695811, 16682546, 12552568, 21546041, 24381312, 11843700, 23833562, 2056246, 28572275, 15716377, 20932283, 11309678, 11809724, 27957547, 25421405, 23252998, 11015453, 12161613, 12163196, 17389232, 14732620, 15667412, 16009769, 26374131, 26671083, 18701882, 19438933, 16684598, 24824479, 15248095, 20550563, 11985387, 16055926, 18410514, 15159500, 15841487, 15482961, 18664244, 11087788, 12939659, 17895902, 25045380, 25341883, 17597328, 15210521, 25658484, 20665701, 12202986, 27084228, 16339213, 20718791, 17598600, 17100993, 23279441, 15891913, 26208798, 15326248, 12460147, 19875132, 24451228, 27260292
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE C1846564 SPG7 26626314, 26756429, 14985266, 27790088, 17646629, 25681447, 20186691, 22571692, 9635427, 25133958, 23812641, 25034272, 23733235, 27123479, 27604308, 18799786, 27217339, 16534102, 21623769, 27165006, 23269439, 18200586, 22964162, 11222789, 23065789, 26506339, 24466038, 24727571, 18563470
Spastic Paraplegia Type 7 C3711370, 99013 SPG7 17646629
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE C3809665 UCHL1 28007905, 23359680, 10048490
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE C3539506 CDK2AP1 20598281
MTRFR 24424123, 20598281, 27604308, 23188110
Autosomal recessive spastic paraplegia type 59 C4750857, 401795 USP8 24482476
Spastic Paraplegia 42, Autosomal Dominant C2675528 SLC33A1 29903433, 25402622, 19061983
Hereditary Autosomal Dominant Spastic Paraplegia C0751602 CYP7B1 18252231
TECPR2 23176824
MFN2
PQBP1 14634649
PNPLA6 20382209
Autosomal Recessive Hereditary Spastic Paraplegia C0751603 CYP7B1 18252231
TECPR2 23176824
PQBP1 14634649
PNPLA6 20382209
Hereditary X-Linked Recessive Spastic Paraplegia C0751604 CYP7B1 18252231
TECPR2 23176824
PQBP1 14634649
PNPLA6 20382209
Spastic paraplegia type 5A, recessive C2931356 CYP7B1 19812052
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE C3542549 TECPR2 26542466, 23176824, 26431026, 25529582
Spastic paraplegia 8, autosomal dominant C1863704 WASHC5 17160902, 20833645, 23881105, 24065355, 23455931, 24916641, 23085491, 25454649
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE C3150901 AP5Z1 24833714, 20613862, 27606357
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE C3714897 TFG 27492651, 23479643, 28196470, 27813252, 25725944, 28124177, 22883144, 30237576, 23553329, 24613659
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE C4284588 ERLIN1 24482476
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE C4310750 FARS2 25851414, 29126765, 26553276
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE C3279738 AP4B1 24700674, 24781758, 21440262, 21620353, 22290197
AP4B1-AS1 21440262, 22290197, 21620353, 24781758
Spastic Paraplegia 39, Autosomal Recessive C2677586 PNPLA6 29749493, 25480986, 23733235, 24355708, 18313024, 25033069
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE C3279743 AP4S1 21620353, 25552650
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE C3888209 NT5C2 29123918, 24482476, 28327087, 19415352, 28884889
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE C3810294 ARL6IP1 24482476, 28471035
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE C3539495 DDHD2 23176823, 25417924, 24482476, 23486545
Complicated hereditary spastic paraplegia C0393556 ATP13A2 27217339, 27165006, 28137957
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE C4310662 ATP13A2 27217339, 28137957, 29112700, 27165006, 29859891, 21696388, 16964263
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE C3151056 AP4E1 20972249, 23472171
Spastic paraplegia 17 C2931276 BSCL2 31369919, 17663003, 17387721, 26392352, 24604904, 18585921, 14981520, 21750110, 18790819, 15181077
HNRNPUL2-BSCL2 18790819, 17387721, 21750110
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE C3810160 REEP2 24388663, 24482476
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT C3810161 REEP2 24388663
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) C2750784 GJC2 19056803, 18094336, 25655951
SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder) C1854568 SPG14
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE C2828721 GBA2 23332916, 26220345, 24252062, 28052128, 30308956, 23332917
SPASTIC PARAPLEGIA 16, X-LINKED (disorder) C1846046 SPG16
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT C1853247 REEP1 22703882, 29629531, 26201691, 16826527, 20718791, 24478229, 19034539, 18321925, 21618648, 18644145
Autosomal recessive spastic paraplegia type 67 C4707829, 401820 PGAP1 24482476
Spastic paraplegia 11, autosomal recessive C1858479 SPG11 17322883, 19194956, 18079167, 27217339, 18337587, 19196735, 27071356, 19105190, 24833714, 22696581, 18067136, 14745065, 17717710, 20390432, 22154821, 18332254, 22175763, 26556829, 22237444, 20110243, 27084228, 19438933, 18835492, 18717728, 23443022, 27820618, 28554332
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE C3539507 DDHD1 23176821
CYP2U1 24337409, 23176821
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE C2680446 C19orf12 20039086, 26187298, 23269600, 23857908, 26539891, 21981780, 23494994, 22584950
Spastic Paraplegia 33, Autosomal Dominant C1853251 ZFYVE27 23969831, 29980238, 18606302, 24668814, 16826525
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) C1838192 NIPA1 15643603, 23850684, 15711826, 14508710, 17928003
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT C4225387 CPT1C 30564185, 25751282
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE C3539494 VPS37A 22717650
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder) C1846685 SPG19
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE C4225322 IBA57 25609768, 30258207
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder) C1843569 SPG24
Spastic paraplegia 25, autosomal recessive C2936860 SPG25
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder) C1836899 SPG27
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE C1970009 SPG32
SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT C2936879 SPG36 19357379
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) C2936880 SPG37
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) C2676732 SPG38
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT C3888208 SPG41 18364116
Autosomal dominant spastic paraplegia type 37 171612 SPG37
Autosomal dominant spastic paraplegia type 38 171617 SPG38
Autosomal recessive spastic paraplegia type 32 171622 SPG32
Autosomal recessive spastic paraplegia type 35 171629 FA2H
Autosomal dominant spastic paraplegia type 42 171863 SLC33A1
Autosomal recessive spastic paraplegia type 39 139480 PNPLA6
Autosomal recessive spastic paraplegia type 11 2822 SPG11
Autosomal recessive spastic paraplegia type 18 209951 ERLIN2
Autosomal dominant spastic paraplegia type 41 320355 SPG41
Autosomal recessive spastic paraplegia type 43 320370 C19orf12
Autosomal dominant spastic paraplegia type 36 320365 SPG36
Autosomal recessive spastic paraplegia type 54 320380 DDHD2
Autosomal recessive spastic paraplegia type 55 320375 MTRFR
Autosomal recessive spastic paraplegia type 46 320391 GBA2
Autosomal recessive spastic paraplegia type 44 320401 GJC2
Autosomal recessive spastic paraplegia type 45 320396 NT5C2
Autosomal recessive spastic paraplegia type 56 320411 CYP2U1
Autosomal recessive spastic paraplegia type 53 319199 VPS37A
Autosomal recessive spastic paraplegia type 48 306511 AP5Z1
Autosomal recessive spastic paraplegia type 75 459056 MAG
Autosomal recessive spastic paraplegia type 77 466722 FARS2
Autosomal recessive spastic paraplegia type 74 468661 IBA57
Autosomal recessive spastic paraplegia type 62 401785 ERLIN1
Autosomal recessive spastic paraplegia type 61 401780 ARL6IP1
Autosomal recessive spastic paraplegia type 60 401800 WDR48
Autosomal recessive spastic paraplegia type 69 401830 RAB3GAP2
Autosomal recessive spastic paraplegia type 71 401840 ZFR
Autosomal recessive spastic paraplegia type 63 401805 AMPD2
Autosomal recessive spastic paraplegia type 64 401810 ENTPD1
Autosomal recessive spastic paraplegia type 66 401815 ARSI
Autosomal spastic paraplegia type 72 401849 REEP2
Autosomal spastic paraplegia type 58 397946 KIF1C
Autosomal dominant spastic paraplegia type 73 444099 CPT1C
Autosomal dominant spastic paraplegia type 9B 447757 ALDH18A1
Autosomal dominant spastic paraplegia type 9A 447753 ALDH18A1
Autosomal recessive spastic paraplegia type 9B 447760 ALDH18A1
Autosomal recessive spastic paraplegia type 57 431329 TFG
Autosomal recessive spastic paraplegia type 76 488594 CAPN1
Autosomal recessive spastic paraplegia type 78 513436 ATP13A2
Spastic paraplegia type 2 99015 PLP1
Autosomal dominant spastic paraplegia type 29 101009 SPG29
Autosomal spastic paraplegia type 30 101010 KIF1A
Autosomal dominant spastic paraplegia type 31 101011 REEP1
Autosomal dominant spastic paraplegia type 3 100984 ATL1
Autosomal dominant spastic paraplegia type 10 100991 KIF5A
Autosomal dominant spastic paraplegia type 8 100989 WASHC5
Autosomal dominant spastic paraplegia type 6 100988 NIPA1
Autosomal recessive spastic paraplegia type 5A 100986 CYP7B1
Autosomal dominant spastic paraplegia type 4 100985 SPAST
Autosomal dominant spastic paraplegia type 19 100999 SPG19
Autosomal recessive spastic paraplegia type 20 101000 SPART
Autosomal dominant spastic paraplegia type 17 100998 BSCL2
Autosomal recessive spastic paraplegia type 14 100995 SPG14
Autosomal recessive spastic paraplegia type 15 100996 ZFYVE26
Autosomal dominant spastic paraplegia type 12 100993 RTN2
Autosomal dominant spastic paraplegia type 13 100994 HSPD1
Autosomal recessive spastic paraplegia type 27 101007 SPG27
Autosomal recessive spastic paraplegia type 28 101008 DDHD1
Autosomal recessive spastic paraplegia type 25 101005 SPG25
Autosomal recessive spastic paraplegia type 26 101006 B4GALNT1
Autosomal recessive spastic paraplegia type 23 101003 DSTYK
Autosomal recessive spastic paraplegia type 24 101004 SPG24
Autosomal recessive spastic paraplegia type 21 101001 SPG21
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) C1836295 DDHD1 23176821, 26944165
Spastic paraplegia 3, autosomal dominant C2931355 ATL1 16537571, 15184642, 14607301, 17502470, 11685207, 21368113, 15517445, 17321752, 12112092, 20932283, 23079343, 19768483, 23233086, 12499504, 22340599, 23999326, 25637064, 15477516, 12939451, 25761634, 16533974, 26671083, 17427918, 24451228, 17992088, 20718791, 21336785, 14695538, 24482476, 19459885, 16401858, 19652243, 20947813, 24604904, 23483706, 15596607, 29691679, 24473461, 20816793, 24417445, 15742100, 25454648