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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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H00294 | Dilated cardiomyopathy | Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... | Cardiovascular disease | hsa05414 Dilated cardiomyopathy |
(CMD1A) LMNA [HSA:4000] [KO:K12641] (CMD1C) LDB3 [HSA:11155] [KO:K19867] (CMD1D) TNNT2 [HSA:7139] [KO:K12045] (CMD1E) SCN5A [HSA:6331] [KO:K04838] (CMD1G) TTN [HSA:7273] [KO:K12567] (CMD1I) DES [HSA:1674] [KO:K07610] (CMD1J) EYA4 [HSA:2070] [KO:K17622] (CMD1L) SGCD [HSA:6444] [KO:K12563] (CMD1M) CSRP3 [HSA:8048] [KO:K09377] (CMD1N) TCAP [HSA:8557] [KO:K19879] (CMD1O) ABCC9 [HSA:10060] [KO:K05033] (CMD1P) PLN [HSA:5350] [KO:K05852] (CMD1R) ACTC1 [HSA:70] [KO:K12314] (CMD1S) MYH7 [HSA:4625] [KO:K17751] (CMD1U) PSEN1 [HSA:5663] [KO:K04505] (CMD1V) PSEN2 [HSA:5664] [KO:K04522] (CMD1W) VCL [HSA:7414] [KO:K05700] (CMD1X) FKTN [HSA:2218] [KO:K19872] (CMD1Y) TPM1 [HSA:7168] [KO:K10373] (CMD1Z) TNNC1 [HSA:7134] [KO:K05865] (CMD1AA) ACTN2 [HSA:88] [KO:K21073] (CMD1BB) DSG2 [HSA:1829] [KO:K07597] (CMD1CC) NEXN [HSA:91624] [KO:K23918] (CMD1DD) RBM20 [HSA:282996] [KO:K24052] (CMD1EE) MYH6 [HSA:4624] [KO:K17751] (CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044] (CMD1GG) SDHA [HSA:6389] [KO:K00234] (CMD1HH) BAG3 [HSA:9531] [KO:K09557] (CMD1II) CRYAB [HSA:1410] [KO:K09542] (CMD1JJ) LAMA4 [HSA:3910] [KO:K06241] (CMD1KK) MYPN [HSA:84665] [KO:K22028] (CMD1LL) PRDM16 [HSA:63976] [KO:K22410] (CMD1MM) MYBPC3 [HSA:4607] [KO:K12568] (CMD1NN) RAF1 [HSA:5894] [KO:K04366] (CMD1OO) VEZF1 [HSA:7716] [KO:K26610] (CMD2B) GATAD1 [HSA:57798] [KO:K23407] (CMD2C) PPCS [HSA:79717] [KO:K01922] (CMD2D) RPL3L [HSA:6123] [KO:K02925] (CMD2E) JPH2 [HSA:57158] [KO:K19530] (CMD2F) BAG5 [HSA:9529] [KO:K09559] (CMD2G) LMOD2 [HSA:442721] [KO:K22030] (CMD2H) GET3 [HSA:439] [KO:K01551] (CMD2I) CAP2 [HSA:10486] [KO:K17261] (CMD2J) FLII [HSA:2314] [KO:K27496] (CMD3B) DMD [HSA:1756] [KO:K10366] (BTHS) TAZ [HSA:6901] [KO:K13511] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DPA1 [HSA:3113] [KO:K06752] HLA-DPB1 [HSA:3115] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] |
H00420 | Familial partial lipodystrophy | ... characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these ... | Inherited metabolic disorder |
(FPLD2) LMNA [HSA:4000] [KO:K12641] (FPLD3) PPARG [HSA:5468] [KO:K08530] (FPLD4) PLIN1 [HSA:5346] [KO:K08768] (FPLD5) CIDEC [HSA:63924] [KO:K25878] (FPLD6) LIPE [HSA:3991] [KO:K07188] (FPLD7) CAV1 [HSA:857] [KO:K06278] (FPLD8) ADRA2A [HSA:150] [KO:K04138] (FPLD9) PLAAT3 [HSA:11145] [KO:K16817] (APLD) LMNB2 [HSA:84823] [KO:K07611] AKT2 [HSA:208] [KO:K04456] |
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H00563 | Emery-Dreifuss muscular dystrophy | ... cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited ... | Nervous system disease; Musculoskeletal disease |
(EDMD1) EMD [HSA:2010] [KO:K12569] (EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641] (EDMD4) SYNE1 [HSA:23345] [KO:K19326] (EDMD5) SYNE2 [HSA:23224] [KO:K19346] (EDMD6) FHL1 [HSA:2273] [KO:K14365] (EDMD7) TMEM43 [HSA:79188] [KO:K27488] |
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H00590 | Congenital muscular dystrophies (CMD/MDC) | Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system ... | Nervous system disease; Musculoskeletal disease |
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] |
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H00601 | Hutchinson-Gilford progeria syndrome | Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled ... | Inherited metabolic disorder | LMNA [HSA:4000] [KO:K12641] | |
H00663 | Restrictive dermopathy | Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint ... | Congenital malformation |
(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013] (RSDM2) LMNA [HSA:4000] [KO:K12641] |
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H00665 | Mandibuloacral dysplasia | ... a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder. Recently, a novel MAD progeroid syndrome due to recessive ... | Congenital malformation |
(MADA) LMNA [HSA:4000] [KO:K12641] (MADB) ZMPSTE24 [HSA:10269] [KO:K06013] (MDPS) MTX2 [HSA:10651] [KO:K17776] |
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H02677 | Progeroid laminopathy | ... mimics clinical and molecular features of aging. It can be caused by mutations in the A-type lamin gene (LMNA), altering prelamin A itself, or in ZMPSTE24, encoding an endoprotease involved in its processing ... | Congenital malformation |
LMNA [HSA:4000] [KO:K12641] ZMPSTE24 [HSA:10269] [KO:K06013] |
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H02725 | Heart-hand syndrome | ... HHS includes the most common type HHS of Holt-Oram syndrome (HOS) and several rare types. TBX5 and LMNA are the only two genes found to contribute to HHS, causing HOS and HHS Slovenian type (HHS-S), respectively | Congenital malformation |
(HOS) TBX5 [HSA:6910] [KO:K10179] (HHS-S) LMNA [HSA:4000] [KO:K12641] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |