KEGG   DISEASE: Charcot-Marie-Tooth disease
Entry
H00264                      Disease                                
Name
Charcot-Marie-Tooth disease;
Hereditary motor and sensory neuropathy
  Subgroup
Peroneal muscular atrophy
Dejerine-Sottas disease [DS:H02359]
Cowchock syndrome [DS:H02344]
Description
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.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00264  Charcot-Marie-Tooth disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor and sensory neuropathy
     H00264  Charcot-Marie-Tooth disease
Pathway
hsa05022  Pathways of neurodegeneration - multiple diseases
Related
pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Gene
(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) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(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) GARS [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]
(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) AARS [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) MARS [HSA:4141] [KO:K01874]
(CMT2W) HARS [HSA:3035] [KO:K01892]
(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) YARS [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
Comment
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
Other DBs
ICD-11: 8C20.0 8C20.1 8C20.2
ICD-10: G60.0
MeSH: D002607
OMIM: 118200 118210 118220 118300 145900 214400 302800 311070 607678 607734 618279 600882 601098 601382 601472 601455 605253 601596 603623 604563 605588 605589 606071 606482 606483 606595 607677 607684 607706 607736 607791 607831 616505 608323 608340 608673 609260 609311 611228 613287 614228 614436 615025 615490 613641 601152 613353 616155 617017 616280 616625 616687 616688 607706 614455 615185 615376 616039 615284 616684 300905 616924 618036 618400 619519 619574 618511
Reference
  Authors
Bertorini T, Narayanaswami P, Rashed H
  Title
Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.
  Journal
Neurologist 10:327-37 (2004)
DOI:10.1097/01.nrl.0000145596.38640.27
Reference
  Authors
Bird TD
  Title
Charcot-Marie-Tooth Hereditary Neuropathy Overview
  Journal
GeneReviews (1993)
Reference
PMID:14685682 (PMP22, MPZ, LITAF, EGR2, GJB1, GDAP1, MTMR2, SBF2, NDRG1, PRX, KIF1B, RAB7A, LMNA, NEFL)
  Authors
Young P, Suter U
  Title
The causes of Charcot-Marie-Tooth disease.
  Journal
Cell Mol Life Sci 60:2547-60 (2003)
DOI:10.1007/s00018-003-3133-5
Reference
PMID:16775378 (MFN2, HSPB1, HSPB8, GARS, DNM2)
  Authors
Niemann A, Berger P, Suter U
  Title
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
  Journal
Neuromolecular Med 8:217-42 (2006)
DOI:10.1385/NMM:8:1:217
Reference
PMID:30643024 (GARS, YARS, AARS, HARS, MARS)
  Authors
Wei N, Zhang Q, Yang XL
  Title
Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
  Journal
J Biol Chem 294:5321-5339 (2019)
DOI:10.1074/jbc.REV118.002955
Reference
PMID:29499166 (ATP1A1)
  Authors
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
  Title
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
  Journal
Am J Hum Genet 102:505-514 (2018)
DOI:10.1016/j.ajhg.2018.01.023
Reference
PMID:22508010 (MPV17)
  Authors
Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW
  Title
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
  Journal
Neuromuscul Disord 22:587-91 (2012)
DOI:10.1016/j.nmd.2012.03.006
Reference
PMID:33889941 (CADM3)
  Authors
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
  Title
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
  Journal
Brain 144:1197-1213 (2021)
DOI:10.1093/brain/awab019
Reference
PMID:32937143 (GBF1)
  Authors
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
  Title
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
  Journal
Am J Hum Genet 107:763-777 (2020)
DOI:10.1016/j.ajhg.2020.08.018
Reference
PMID:32065591 (JAG1)
  Authors
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
  Title
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
  Journal
J Clin Invest 130:1506-1512 (2020)
DOI:10.1172/JCI128152
Reference
PMID:20220177 (SH3TC2)
  Authors
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
  Title
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
  Journal
N Engl J Med 362:1181-91 (2010)
DOI:10.1056/NEJMoa0908094
Reference
PMID:21820100 (DYNC1H1)
  Authors
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S
  Title
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
  Journal
Am J Hum Genet 89:308-12 (2011)
DOI:10.1016/j.ajhg.2011.07.002
Reference
PMID:20865121 (LRSAM1)
  Authors
Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME
  Title
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
  Journal
PLoS Genet 6:e1001081 (2010)
DOI:10.1371/journal.pgen.1001081
Reference
PMID:23141294 (DHTKD1)
  Authors
Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG
  Title
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
  Journal
Am J Hum Genet 91:1088-94 (2012)
DOI:10.1016/j.ajhg.2012.09.018
Reference
PMID:23562820 (TRIM2)
  Authors
Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H
  Title
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
  Journal
Hum Mol Genet 22:2975-83 (2013)
DOI:10.1093/hmg/ddt149
Reference
PMID:25439726 (IGHMBP2)
  Authors
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzinska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H
  Title
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
  Journal
Am J Hum Genet 95:590-601 (2014)
DOI:10.1016/j.ajhg.2014.10.002
Reference
PMID:26991897 (MME)
  Authors
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H
  Title
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
  Journal
Ann Neurol 79:659-72 (2016)
DOI:10.1002/ana.24612
Reference
PMID:23729695 (MARS)
  Authors
Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S
  Title
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
  Journal
J Neurol Neurosurg Psychiatry 84:1247-9 (2013)
DOI:10.1136/jnnp-2013-305049
Reference
PMID:25125609 (VCP)
  Authors
Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME
  Title
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
  Journal
Brain 137:2897-902 (2014)
DOI:10.1093/brain/awu224
Reference
PMID:26659848 (MORC2)
  Authors
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
  Title
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
  Journal
Ann Neurol 79:419-27 (2016)
DOI:10.1002/ana.24575
Reference
PMID:24799518 (SBF1)
  Authors
Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS
  Title
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.
  Journal
Neurology 82:1665-6 (2014)
DOI:10.1212/WNL.0000000000000331
Reference
PMID:21655088 (FIG4)
  Authors
Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH
  Title
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
  Journal
PLoS Genet 7:e1002104 (2011)
DOI:10.1371/journal.pgen.1002104
Reference
PMID:24027061 (SURF1)
  Authors
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B
  Title
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
  Journal
Neurology 81:1523-30 (2013)
DOI:10.1212/WNL.0b013e3182a4a518
Reference
PMID:27390132 (SLC25A46)
  Authors
Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA
  Title
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
  Journal
EMBO Mol Med 8:1019-38 (2016)
DOI:10.15252/emmm.201506159
Reference
PMID:31187503 (PDXK)
  Authors
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botia JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H
  Title
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
  Journal
Ann Neurol 86:225-240 (2019)
DOI:10.1002/ana.25524
Reference
PMID:23297365 (PDK3)
  Authors
Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA
  Title
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
  Journal
Hum Mol Genet 22:1404-16 (2013)
DOI:10.1093/hmg/dds557
Reference
PMID:22187985 (INF2)
  Authors
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tete MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G
  Title
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
  Journal
N Engl J Med 365:2377-88 (2011)
DOI:10.1056/NEJMoa1109122
Reference
PMID:23434117 (GNB4)
  Authors
Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC
  Title
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
  Journal
Am J Hum Genet 92:422-30 (2013)
DOI:10.1016/j.ajhg.2013.01.014
Reference
PMID:23777631 (PLEKHG5)
  Authors
Azzedine H, Zavadakova P, Plante-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Medard JJ, Makowski E, Schols L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R
  Title
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
  Journal
Hum Mol Genet 22:4224-32 (2013)
DOI:10.1093/hmg/ddt274
Reference
PMID:25152455 (COX6A1)
  Authors
Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K
  Title
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
  Journal
Am J Hum Genet 95:294-300 (2014)
DOI:10.1016/j.ajhg.2014.07.013
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