KEGG   DISEASE: Charcot-Marie-Tooth diseaseHelp
Entry
H00264                      Disease                                

Name
Charcot-Marie-Tooth disease;
Hereditary motor and sensory neuropathy;
Peroneal muscular atrophy
Description
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of inherited peripheral neuropathies characterized by progressive distal wasting and loss of reflexes in the muscles of the legs.
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 or sensory neuropathy
     H00264  Charcot-Marie-Tooth disease
BRITE hierarchy
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]
(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) MED25 [HSA:81857] [KO:K15168]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2D) GARS [HSA:2617] [KO:K01880]
(CMT2F) HSPB1 [HSA:51668] [KO:K19369]
(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:K01528]
(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]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(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]
(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 600882 601098 601382 601472 601455 605253 601596 603623 604563 605588 605589 606071 606482 606595 607677 607684 607706 607734 607736 607791 607831 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
Reference
  Authors
Barisic N, Claeys KG, Sirotkovic-Skerlev M, Lofgren A, Nelis E, De Jonghe P, Timmerman V
  Title
Charcot-Marie-Tooth disease: a clinico-genetic confrontation.
  Journal
Ann Hum Genet 72:416-41 (2008)
DOI:10.1111/j.1469-1809.2007.00412.x
Reference
  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
  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
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
  Authors
Berger P, Young P, Suter U
  Title
Molecular cell biology of Charcot-Marie-Tooth disease.
  Journal
Neurogenetics 4:1-15 (2002)
DOI:10.1007/s10048-011-0293-6
Reference
  Authors
Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P
  Title
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
  Journal
Proc Natl Acad Sci U S A 104:11239-44 (2007)
DOI:10.1073/pnas.0705055104
Reference
  Authors
Bird TD
  Title
Charcot-Marie-Tooth Hereditary Neuropathy Overview
  Journal
GeneReviews (1993)
Reference
PMID:20220177 (MNMN)
  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
  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
  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
  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
  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
  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
  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
  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
  Authors
Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J
  Title
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
  Journal
Brain 138:2161-72 (2015)
DOI:10.1093/brain/awv158
Reference
  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
  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
  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
  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
  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
  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
Reference
  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
  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
  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

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