| H00264 | |
| H番号 | H00264 |
| 名称 | シャルコー・マリー・トゥース病; 遺伝性運動感覚ニューロパチー |
| 概要 | 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 velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | nt06515(H00264) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (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] (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | CMT1: Abnormal myelin, autosomal dominant CMT2: Axonopathy, autosomal dominant Intermediate form: Combination of myelinopathy and axonopathy in individual, autosomal dominant CMT4: Either myelinopathy or axonopathy, autosomal recessive CMTX: Axonopathy with secondary myelin changes, X-linked dominant MNMN: Mononeuropathy of the median nerve mild |
| リンク | ICD-11: 8C20.0 8C20.1 8C20.2 ICD-10: G60.0 MeSH: D002607 OMIM: 118220 118200 601098 607678 118300 607734 618279 619764 619742 620111 118210 609260 617087 600882 605588 605589 606071 601472 607684 606595 607677 607736 607831 608673 606482 613287 614228 614436 615025 615490 616155 617017 616280 616491 616625 616668 616687 616688 616924 618036 618400 619519 606483 619574 620068 607706 214400 601382 604563 615284 601596 613353 601455 605253 614895 609311 611228 616684 601152 616505 618511 302800 311070 300905 608323 607791 614455 615185 617882 608340 613641 615376 616039 |
| 文献 | PMID:15518599 著者 Bertorini T, Narayanaswami P, Rashed H タイトル Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. 雑誌 Neurologist 10:327-37 (2004) DOI:10.1097/01.nrl.0000145596.38640.27 PMID:20301532 著者 Bird TD タイトル Charcot-Marie-Tooth Hereditary Neuropathy Overview 雑誌 GeneReviews (1993) PMID:14685682 (PMP22, MPZ, LITAF, EGR2, GJB1, GDAP1, MTMR2, SBF2, NDRG1, PRX, KIF1B, RAB7A, LMNA, NEFL) 著者 Young P, Suter U タイトル The causes of Charcot-Marie-Tooth disease. 雑誌 Cell Mol Life Sci 60:2547-60 (2003) DOI:10.1007/s00018-003-3133-5 PMID:16775378 (MFN2, HSPB1, HSPB8, GARS1, DNM2) 著者 Niemann A, Berger P, Suter U タイトル Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. 雑誌 Neuromolecular Med 8:217-42 (2006) DOI:10.1385/NMM:8:1:217 PMID:30643024 (GARS1, YARS1, AARS1, HARS1, MARS1) 著者 Wei N, Zhang Q, Yang XL タイトル Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases. 雑誌 J Biol Chem 294:5321-5339 (2019) DOI:10.1074/jbc.REV118.002955 PMID:29499166 (ATP1A1) 著者 Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S タイトル Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 雑誌 Am J Hum Genet 102:505-514 (2018) DOI:10.1016/j.ajhg.2018.01.023 PMID:22508010 (MPV17) 著者 Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW タイトル MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 雑誌 Neuromuscul Disord 22:587-91 (2012) DOI:10.1016/j.nmd.2012.03.006 PMID:33889941 (CADM3) 著者 Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S タイトル A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. 雑誌 Brain 144:1197-1213 (2021) DOI:10.1093/brain/awab019 PMID:32937143 (GBF1) 著者 Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B タイトル De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. 雑誌 Am J Hum Genet 107:763-777 (2020) DOI:10.1016/j.ajhg.2020.08.018 PMID:32065591 (JAG1) 著者 Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ タイトル Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. 雑誌 J Clin Invest 130:1506-1512 (2020) DOI:10.1172/JCI128152 PMID:20220177 (SH3TC2) 著者 Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA タイトル Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 雑誌 N Engl J Med 362:1181-91 (2010) DOI:10.1056/NEJMoa0908094 PMID:21820100 (DYNC1H1) 著者 Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S タイトル Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 雑誌 Am J Hum Genet 89:308-12 (2011) DOI:10.1016/j.ajhg.2011.07.002 PMID:20865121 (LRSAM1) 著者 Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, 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Ann Neurol 79:659-72 (2016) DOI:10.1002/ana.24612 PMID:23729695 (MARS1) 著者 Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S タイトル Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 雑誌 J Neurol Neurosurg Psychiatry 84:1247-9 (2013) DOI:10.1136/jnnp-2013-305049 PMID:25125609 (VCP) 著者 Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME タイトル A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 雑誌 Brain 137:2897-902 (2014) DOI:10.1093/brain/awu224 PMID:26659848 (MORC2) 著者 Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA タイトル MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. 雑誌 Ann Neurol 79:419-27 (2016) DOI:10.1002/ana.24575 PMID:24799518 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DOI:10.1126/scisignal.aae0546 |