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Entry | Name | Description | Category | Pathway | Gene |
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H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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H00266 | Hereditary spastic paraplegia | Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. | Nervous system disease |
(SPG1) L1CAM [HSA:3897] [KO:K06550] (SPG2) PLP1 [HSA:5354] [KO:K17271] (SPG3) ATL1 [HSA:51062] [KO:K17339] (SPG4) SPAST [HSA:6683] [KO:K13254] (SPG5) CYP7B1 [HSA:9420] [KO:K07430] (SPG6) NIPA1 [HSA:123606] [KO:K19364] (SPG7) SPG7 [HSA:6687] [KO:K09552] (SPG8) WASHC5 [HSA:9897] [KO:K18464] (SPG9) ALDH18A1 [HSA:5832] [KO:K12657] (SPG10) KIF5A [HSA:3798] [KO:K10396] (SPG11) SPG11 [HSA:80208] [KO:K19026] (SPG12) RTN2 [HSA:6253] [KO:K20722] (SPG13) HSPD1 [HSA:3329] [KO:K04077] (SPG15) ZFYVE26 [HSA:23503] [KO:K19027] (SPG17) BSCL2 [HSA:26580] [KO:K19365] (SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341] (SPG20) SPART [HSA:23111] [KO:K19366] (SPG21) SPG21 [HSA:51324] [KO:K19367] (SPG23) DSTYK [HSA:25778] [KO:K16288] (SPG26) B4GALNT1 [HSA:2583] [KO:K00725] (SPG28) DDHD1 [HSA:80821] [KO:K13619] (SPG30) KIF1A [HSA:547] [KO:K10392] (SPG31) REEP1 [HSA:65055] [KO:K17338] (SPG33) ZFYVE27 [HSA:118813] [KO:K19368] (SPG35) FA2H [HSA:79152] [KO:K19703] (SPG39) PNPLA6 [HSA:10908] [KO:K14676] (SPG42) SLC33A1 [HSA:9197] [KO:K03372] (SPG43) C19orf12 [HSA:83636] [KO:K23168] (SPG44) GJC2 [HSA:57165] [KO:K07619] (SPG45) NT5C2 [HSA:22978] [KO:K01081] (SPG46) GBA2 [HSA:57704] [KO:K17108] (SPG47) AP4B1 [HSA:10717] [KO:K12401] (SPG48) AP5Z1 [HSA:9907] [KO:K19025] (SPG49) TECPR2 [HSA:9895] [KO:K23881] (SPG50) AP4M1 [HSA:9179] [KO:K12402] (SPG51) AP4E1 [HSA:23431] [KO:K12400] (SPG52) AP4S1 [HSA:11154] [KO:K12403] (SPG53) VPS37A [HSA:137492] [KO:K12185] (SPG54) DDHD2 [HSA:23259] [KO:K16545] (SPG55) MTRFR [HSA:91574] [KO:K23498] (SPG56) CYP2U1 [HSA:113612] [KO:K07422] (SPG57) TFG [HSA:10342] [KO:K09292] (SPG61) ARL6IP1 [HSA:23204] [KO:K24864] (SPG62) ERLIN1 [HSA:10613] [KO:K23341] (SPG63) AMPD2 [HSA:271] [KO:K01490] (SPG64) ENTPD1 [HSA:953] [KO:K01510] (SPG70) MARS1 [HSA:4141] [KO:K01874] (SPG72A/72B) REEP2 [HSA:51308] [KO:K17338] (SPG73) CPT1C [HSA:126129] [KO:K19524] (SPG74) IBA57 [HSA:200205] [KO:K22073] (SPG75) MAG [HSA:4099] [KO:K06771] (SPG76) CAPN1 [HSA:823] [KO:K01367] (SPG77) FARS2 [HSA:10667] [KO:K01889] (SPG78) ATP13A2 [HSA:23400] [KO:K13526] (SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611] (SPG80) UBAP1 [HSA:51271] [KO:K24629] (SPG81) SELENOI [HSA:85465] [KO:K00993] (SPG82) PCYT2 [HSA:5833] [KO:K00967] (SPG83) HPDL [HSA:84842] [KO:K24788] (SPG84) PI4KA [HSA:5297] [KO:K00888] (SPG85) RNF170 [HSA:81790] [KO:K15707] (SPG86) ABHD16A [HSA:7920] [KO:K25824] (SPG87) TMEM63C [HSA:57156] [KO:K21989] (SPG88) KPNA3 [HSA:3839] [KO:K23583] (SPG89) AMFR [HSA:267] [KO:K10636] (SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384] (SPG91) SPTAN1 [HSA:6709] [KO:K06114] |
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H00455 | Spinal muscular atrophy | Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by ... | Neurodegenerative disease |
(SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129] (SMA3) SMN2 [HSA:6607] [KO:K13129] (SMAX1) AR [HSA:367] [KO:K08557] (SMAX2) UBA1 [HSA:7317] [KO:K03178] (SMAX3) ATP7A [HSA:538] [KO:K17686] (SMAPAD) VAPB [HSA:9217] [KO:K10707] (SMALED1) DYNC1H1 [HSA:1778] [KO:K10413] (SMALED2) BICD2 [HSA:23299] [KO:K18739] (SMAJI) GARS1 [HSA:2617] [KO:K01880] |
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H00485 | Robinow syndrome | Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic ... | Congenital malformation |
(RRS1) ROR2 [HSA:4920] [KO:K05123] (RRS2) NXN [HSA:64359] [KO:K17609] (DRS1) WNT5A [HSA:7474] [KO:K00444] (DRS2) DVL1 [HSA:1855] [KO:K02353] (DRS3) DVL3 [HSA:1857] [KO:K02353] |
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H00605 | Deafness, autosomal recessive | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] [KO:K27624] |
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H00606 |
Early infantile epileptic encephalopathy Developmental and epileptic encephalopathy Ohtahara syndrome |
Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... | Nervous system disease |
(DEE1) ARX [HSA:170302] [KO:K09452] (DEE2) CDKL5 [HSA:6792] [KO:K08824] (DEE3) SLC25A22 [HSA:79751] [KO:K15107] (DEE4) STXBP1 [HSA:6812] [KO:K15292] (DEE5) SPTAN1 [HSA:6709] [KO:K06114] (DEE6B) SCN1A [HSA:6323] [KO:K04833] (DEE7) KCNQ2 [HSA:3785] [KO:K04927] (DEE8) ARHGEF9 [HSA:23229] [KO:K20686] (DEE9) PCDH19 [HSA:57526] [KO:K16499] (DEE10) PNKP [HSA:11284] [KO:K08073] (DEE11) SCN2A [HSA:6326] [KO:K04834] (DEE12) PLCB1 [HSA:23236] [KO:K05858] (DEE13) SCN8A [HSA:6334] [KO:K04840] (DEE14) KCNT1 [HSA:57582] [KO:K04946] (DEE15) ST3GAL3 [HSA:6487] [KO:K00781] (DEE16) TBC1D24 [HSA:57465] [KO:K21841] (DEE17) GNAO1 [HSA:2775] [KO:K04534] (DEE18) SZT2 [HSA:23334] [KO:K23298] (DEE19) GABRA1 [HSA:2554] [KO:K05175] (DEE21) NECAP1 [HSA:25977] [KO:K20069] (DEE22) SLC35A2 [HSA:7355] [KO:K15272] (DEE23) DOCK7 [HSA:85440] [KO:K21852] (DEE24) HCN1 [HSA:348980] [KO:K04954] (DEE25) SLC13A5 [HSA:284111] [KO:K14445] (DEE26) KCNB1 [HSA:3745] [KO:K04885] (DEE27) GRIN2B [HSA:2904] [KO:K05210] (DEE28) WWOX [HSA:51741] [KO:K19329] (DEE29) AARS [HSA:16] [KO:K01872] (DEE30) SIK1 [HSA:150094] [KO:K19008] (DEE31A/31B) DNM1 [HSA:1759] [KO:K01528] (DEE32) KCNA2 [HSA:3737] [KO:K04875] (DEE33) EEF1A2 [HSA:1917] [KO:K03231] (DEE34) SLC12A5 [HSA:57468] [KO:K23967] (DEE35) ITPA [HSA:3704] [KO:K01519] (DEE36) ALG13 [HSA:79868] [KO:K07432] (DEE37) FRRS1L [HSA:23732] [KO:K25381] (DEE38) ARV1 [HSA:64801] [KO:K21848] (DEE39) SLC25A12 [HSA:8604] [KO:K15105] (DEE40) GUF1 [HSA:60558] [KO:K21594] (DEE41) SLC1A2 [HSA:6506] [KO:K05613] (DEE42) CACNA1A [HSA:773] [KO:K04344] (DEE43) GABRB3 [HSA:2562] [KO:K05181] (DEE44) UBA5 [HSA:79876] [KO:K12164] (DEE45) GABRB1 [HSA:2560] [KO:K05181] (DEE46) GRIN2D [HSA:2906] [KO:K05212] (DEE47) FGF12 [HSA:2257] [KO:K22413] (DEE48) AP3B2 [HSA:8120] [KO:K12397] (DEE49) DENND5A [HSA:23258] [KO:K20164] (DEE50) CAD [HSA:790] [KO:K11540] (DEE51) MDH2 [HSA:4191] [KO:K00026] (DEE52) SCN1B [HSA:6324] [KO:K04845] (DEE53) SYNJ1 [HSA:8867] [KO:K20279] (DEE54) HNRNPU [HSA:3192] [KO:K12888] (DEE55) PIGP [HSA:51227] [KO:K03861] (DEE56) YWHAG [HSA:7532] [KO:K16198] (DEE57) KCNT2 [HSA:343450] [KO:K04947] (DEE58) NTRK2 [HSA:4915] [KO:K04360] (DEE59) GABBR2 [HSA:9568] [KO:K04615] (DEE60) CNPY3 [HSA:10695] [KO:K22816] (DEE61) ADAM22 [HSA:53616] [KO:K16068] (DEE62) SCN3A [HSA:6328] [KO:K04836] (DEE63) CPLX1 [HSA:10815] [KO:K15294] (DEE64) RHOBTB2 [HSA:23221] [KO:K07868] (DEE65) CYFIP2 [HSA:26999] [KO:K05749] (DEE66) PACS2 [HSA:23241] [KO:K23294] (DEE67) CUX2 [HSA:23316] [KO:K09313] (DEE68) TRAK1 [HSA:22906] [KO:K15369] (DEE69) CACNA1E [HSA:777] [KO:K04852] (DEE70) PHACTR1 [HSA:221692] [KO:K17594] (DEE71) GLS [HSA:2744] [KO:K01425] (DEE72) NEUROD2 [HSA:4761] [KO:K09078] (DEE73) RNF13 [HSA:11342] [KO:K15692] (DEE74) GABRG2 [HSA:2566] [KO:K05186] (DEE75) PARS2 [HSA:25973] [KO:K01881] (DEE76) ACTL6B [HSA:51412] [KO:K11652] (DEE77) PIGQ [HSA:9091] [KO:K03860] (DEE78) GABRA2 [HSA:2555] [KO:K05175] (DEE79) GABRA5 [HSA:2558] [KO:K05175] (DEE80) PIGB [HSA:9488] [KO:K05286] (DEE81) DMXL2 [HSA:23312] [KO:K24155] (DEE82) GOT2 [HSA:2806] [KO:K14455] (DEE83) UGP2 [HSA:7360] [KO:K00963] (DEE84) UGDH [HSA:7358] [KO:K00012] (DEE85) SMC1A [HSA:8243] [KO:K06636] (DEE86) DALRD3 [HSA:55152] [KO:K24973] (DEE87) CDK19 [HSA:23097] [KO:K02208] (DEE88) MDH1 [HSA:4190] [KO:K00025] (DEE89) GAD1 [HSA:2571] [KO:K01580] (DEE90) FGF13 [HSA:2258] [KO:K22413] (DEE91) PPP3CA [HSA:5530] [KO:K04348] (DEE92) GABRB2 [HSA:2561] [KO:K05181] (DEE93) ATP6V1A [HSA:523] [KO:K02145] (DEE94) CHD2 [HSA:1106] [KO:K20091] (DEE95) PIGS [HSA:94005] [KO:K05291] (DEE96) NSF [HSA:4905] [KO:K06027] (DEE97) CELF2 [HSA:10659] [KO:K13207] (DEE98) ATP1A2 [HSA:477] [KO:K01539] (DEE99) ATP1A3 [HSA:478] [KO:K01539] (DEE100) FBXO28 [HSA:23219] [KO:K10306] (DEE101) GRIN1 [HSA:2902] [KO:K05208] (DEE102) SLC38A3 [HSA:10991] [KO:K13576] (DEE103) KCNC2 [HSA:3747] [KO:K04888] (DEE104) ATP6V0A1 [HSA:535] [KO:K02154] (DEE105) HID1 [HSA:283987] (DEE106) UFSP2 [HSA:55325] [KO:K01376] (DEE107) NAPB [HSA:63908] [KO:K26120] (DEE108) MAST3 [HSA:23031] [KO:K08789] (DEE109) FZR1 [HSA:51343] [KO:K03364] (DEE110) CACNA2D1 [HSA:781] [KO:K04858] (DEE111) DEPDC5 [HSA:9681] [KO:K20404] (DEE112) KCNH5 [HSA:27133] [KO:K04908] (DEE113) SV2A [HSA:9900] [KO:K06258] (DEE114) SLC32A1 [HSA:140679] [KO:K15015] (DEE115) SNF8 [HSA:11267] [KO:K12188] (DEE116) GLUL [HSA:2752] [KO:K01915] |
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H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | Inherited metabolic disorder |
(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999] |
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H00711 |
Russell-Silver syndrome Silver-Russell syndrome |
... characteristic features. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region ... | Congenital malformation |
(SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
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H00810 | Progressive myoclonic epilepsy | Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously ... | Nervous system disease |
(EPM1A) CSTB [HSA:1476] [KO:K13907] (EPM1B) PRICKLE1 [HSA:144165] [KO:K04511] (EPM2A) EPM2A [HSA:7957] [KO:K14165] (EPM2B) NHLRC1 [HSA:378884] [KO:K10602] (EPM3) KCTD7 [HSA:154881] [KO:K21917] (EPM4) SCARB2 [HSA:950] [KO:K12384] (EPM6) GOSR2 [HSA:9570] [KO:K08496] (EPM7) KCNC1 [HSA:3746] [KO:K04887] (EPM8) CERS1 [HSA:10715] [KO:K04710] (EPM9) LMNB2 [HSA:84823] [KO:K07611] (EPM10) PRDM8 [HSA:56978] [KO:K20797] (EPM11) SEMA6B [HSA:10501] [KO:K06842] (EPM12) SLC7A6OS [HSA:84138] |
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H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K06134] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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H00866 | Trichothiodystrophy | Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three ... | Skin disease |
(TTD1) ERCC2 [HSA:2068] [KO:K10844] (TTD2) ERCC3 [HSA:2071] [KO:K10843] (TTD3) GTF2H5 [HSA:404672] [KO:K10845] (TTD4) MPLKIP [HSA:136647] [KO:K24575] (TTD5) RNF113A [HSA:7737] [KO:K13127] (TTD6) GTF2E2 [HSA:2961] [KO:K03137] (TTD7) TARS1 [HSA:6897] [KO:K01868] (TTD8) AARS1 [HSA:16] [KO:K01872] (TTD9) MARS1 [HSA:4141] [KO:K01874] |
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H00973 | Bradyopsia | Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing ... | Nervous system disease |
(PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
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H01488 |
Hyperphosphatasia with mental retardation syndrome Mabry syndrome |
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase ... | Inherited metabolic disorder |
(HPMRS1) PIGV [HSA:55650] [KO:K07542] (HPMRS2) PIGO [HSA:84720] [KO:K05288] (HPMRS3) PGAP2 [HSA:27315] [KO:K23552] (HPMRS4) PGAP3 [HSA:93210] [KO:K23553] (HPMRS5) PIGW [HSA:284098] [KO:K05283] (HPMRS6) PIGY [HSA:84992] [KO:K11001] |
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H01656 | Psoriasis | Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are ... | Immune system disease; Skin disease |
(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395] |
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H01766 | Juvenile retinoschisis | Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause of ... | Congenital malformation | ||
H01807 | Hereditary diffuse leukoencephalopathy with spheroids | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, ... | Neurodegenerative disease |
(HDLS1) CSF1R [HSA:1436] [KO:K05090] (HDLS2) AARS1 [HSA:16] [KO:K01872] |
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H01889 |
Meier-Gorlin syndrome Ear-patella-short statute syndrome |
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ... | Congenital malformation |
(MGORS1) ORC1 [HSA:4998] [KO:K02603] (MGORS2) ORC4 [HSA:5000] [KO:K02606] (MGORS3) ORC6 [HSA:23594] [KO:K02608] (MGORS4) CDT1 [HSA:81620] [KO:K10727] (MGORS5) CDC6 [HSA:990] [KO:K02213] (MGORS6) GMNN [HSA:51053] [KO:K10749] (MGORS7) CDC45 [HSA:8318] [KO:K06628] (MGORS8) MCM5 [HSA:4174] [KO:K02209] |
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H02132 | Microcephaly syndrome | Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... | Congenital malformation |
(MCPHSBA) MED17 [HSA:9440] [KO:K15133] (MSCCA) QARS [HSA:5859] [KO:K01886] (MCCPD) MSMO1 [HSA:6307] [KO:K07750] (MEDS1) IER3IP1 [HSA:51124] [KO:K22939] (MEDS2) YIPF5 [HSA:81555] [KO:K20363] (MIMIS) DONSON [HSA:29980] [KO:K22422] (MSSP) RTTN [HSA:25914] [KO:K16484] (MFRG) CTU2 [HSA:348180] [KO:K14169] (MCIDDS) KCNA4 [HSA:3739] [KO:K04877] (MIGSB) WDR4 [HSA:10785] [KO:K15443] (MDBH) CARS1 [HSA:833] [KO:K01883] |
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H02160 | Craniosynostoses | Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape. | Congenital malformation |
(CRS1) TWIST1 [HSA:7291] [KO:K09069] (CRS2) MSX2 [HSA:4488] [KO:K09341] (CRS3) TCF12 [HSA:6938] [KO:K15603] (CRS4) ERF [HSA:2077] [KO:K09434] (CRS5) ALX4 [HSA:60529] [KO:K09451] (CRS6) ZIC1 [HSA:7545] [KO:K09224] (CRS7) SMAD6 [HSA:4091] [KO:K04677] |
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H02391 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual ... | Congenital malformation |
(IMNEPD1) PTRH2 [HSA:51651] [KO:K04794] (IMNEPD2) YARS1 [HSA:8565] [KO:K01866] |
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H02433 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result ... | Inherited metabolic disorder | DARS1 [HSA:1615] [KO:K22503] | |
H02437 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS). | Congenital malformation | IARS1 [HSA:3376] [KO:K01870] | |
H02475 | Retinoschisis | ... degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis (XLRS) was discovered by positional cloning | Congenital malformation | RS1 [HSA:6247] [KO:K25729] | |
H02687 | Congenital deafness and adult-onset progressive leukoencephalopathy | Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is a severe neurological and neurosensory disease caused by mutations in KARS. Patients have a combination of early-onset deafness ... | Nervous system disease | KARS1 [HSA:3735] [KO:K04567] | |
H02709 | Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect | The aminoacyl-tRNA synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon ... | Congenital malformation |
(NEDMAS) SARS1 [HSA:6301] [KO:K01875] (NDMSCA) VARS1 [HSA:7407] [KO:K01873] (NEDMILEG) NARS1 [HSA:4677] [KO:K01893] (NEMMLAS) WARS2 [HSA:10352] [KO:K01867] (NEDMSBA) WARS1 [HSA:7453] [KO:K01867] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |