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Charcot-Marie-Tooth disease type 2

MedGen UID:: 124378
•Concept ID:: C0270914
•: Disease or Syndrome

Synonyms:	Charcot-Marie-Tooth Neuropathy Type 2; Charcot-Marie-Tooth, Type 2
SNOMED CT:	Charcot-Marie-Tooth disease, type II (398187000); Inherited neuronal peroneal muscular atrophy (398187000); Hereditary motor and sensory neuropathy type II (398187000); Peroneal muscular atrophy of neuronal type (398187000); Charcot Marie Tooth disease, type 2 (398187000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	DNAJB2 (2q35); IGHMBP2 (11q13.3); MARS1 (12q13.3); MME (3q25.2)
Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	TRPV4, JPH1, GDAP1, HSPB8, KIF1B, MFN2, RAB7A, NEFL, MPZ, HSPB1, GARS1, DYNC1H1, AARS1

Monarch Initiative:	MONDO:0018993
Orphanet:	ORPHA64746

Definition

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCharcot-Marie-Tooth disease

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Hereditary motor and sensory neuropathy
        Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
        Autosomal dominant Charcot-Marie-Tooth disease type 2K
        Autosomal dominant Charcot-Marie-Tooth disease type 2M
        Autosomal dominant Charcot-Marie-Tooth disease type 2W
        Charcot-Marie-Tooth disease axonal type 2C
        Charcot-Marie-Tooth disease axonal type 2F
        Charcot-Marie-Tooth disease axonal type 2H
        Charcot-Marie-Tooth disease axonal type 2K
        Charcot-Marie-Tooth disease axonal type 2L
        Charcot-Marie-Tooth disease axonal type 2N
        Charcot-Marie-Tooth disease axonal type 2O
        Charcot-Marie-Tooth disease axonal type 2P
        Charcot-Marie-Tooth disease axonal type 2Q
        Charcot-Marie-Tooth disease axonal type 2U
        Charcot-Marie-Tooth disease axonal type 2V
        Charcot-Marie-Tooth disease axonal type 2Z
        Charcot-Marie-Tooth disease type 2A1
        Charcot-Marie-Tooth disease type 2A2
        Charcot-Marie-Tooth disease type 2B
        Charcot-Marie-Tooth disease type 2D
        Charcot-Marie-Tooth disease type 2E
        Charcot-Marie-Tooth disease type 2I
        Charcot-Marie-Tooth disease type 2J
        Charcot-Marie-Tooth disease type 2Y
        Charcot-marie-tooth disease, axonal, type 2DD
        Charcot-Marie-Tooth disease, type 2A
        Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
        Charcot-Marie-Tooth Neuropathy Type 2H/2K
        GARS-Associated Axonal Neuropathy
        Neuronopathy, distal hereditary motor, type 5A
        Giant axonal neuropathy 2
        MME-related autosomal dominant Charcot Marie Tooth disease type 2

Follow this link to review classifications for Charcot-Marie-Tooth disease type 2 in Orphanet.

Professional guidelines

PubMed

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.

McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075 Free PMC Article

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C
Arch Neurol 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284. PMID: 20008656

See all (2)

Recent clinical studies

Etiology

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A
Eur J Neurol 2023 Feb;30(2):511-526. Epub 2022 Nov 21 doi: 10.1111/ene.15601. PMID: 36260368 Free PMC Article

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.

McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075 Free PMC Article

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327

Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2.

Garcez CA, Neves EL, Melo SM, Nunes PS, Barreto LC, Costa IM, Souza CC, Rezende RL, Araújo AA
Eur Neurol 2015;74(5-6):310-4. Epub 2015 Dec 17 doi: 10.1159/000442282. PMID: 26674657

See all (28)

Diagnosis

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.

Lin S, Xu LQ, Xu GR, Guo LL, Lin BJ, Chen WJ, Wang N, Lin Y, He J
Neurogenetics 2020 Apr;21(2):79-86. Epub 2019 Dec 12 doi: 10.1007/s10048-019-00591-4. PMID: 31832804

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons.

Jacquier A, Risson V, Schaeffer L
J Vis Exp 2019 Jan 7;(143) doi: 10.3791/57988. PMID: 30663652

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2.

Garcez CA, Neves EL, Melo SM, Nunes PS, Barreto LC, Costa IM, Souza CC, Rezende RL, Araújo AA
Eur Neurol 2015;74(5-6):310-4. Epub 2015 Dec 17 doi: 10.1159/000442282. PMID: 26674657

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M
BMC Med Genet 2006 Jun 8;7:53. doi: 10.1186/1471-2350-7-53. PMID: 16762064 Free PMC Article

See all (37)

Therapy

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

Furuta Y, Nelson ET, Neumann SM, Phillips JA 3rd, Hamid R, Tinker RJ, Cogan JD, Rives L, Newman JH; Undiagnosed Diseases Network
Am J Med Genet A 2023 Dec;191(12):2873-2877. Epub 2023 Aug 25 doi: 10.1002/ajmg.a.63383. PMID: 37622199

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Panosyan FB, Tawil R, Herrmann DN
Muscle Nerve 2017 Jun;55(6):922-927. Epub 2017 Feb 12 doi: 10.1002/mus.25453. PMID: 27783406

Inborn errors of copper metabolism.

Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398 Free PMC Article

Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia.

Nishikawa T, Kawakami K, Kumamoto T, Tonooka S, Abe A, Hayasaka K, Okamoto Y, Kawano Y
J Pediatr Hematol Oncol 2008 Jul;30(7):519-21. doi: 10.1097/MPH.0b013e31816624a4. PMID: 18797198

Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.

Teunissen LL, Notermans NC, Franssen H, Van Engelen BG, Baas F, Wokke JH
Arch Neurol 2003 Jun;60(6):823-8. doi: 10.1001/archneur.60.6.823. PMID: 12810486

See all (6)

Prognosis

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.

Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S
Mol Neurobiol 2019 Sep;56(9):6460-6471. Epub 2019 Mar 4 doi: 10.1007/s12035-019-1533-2. PMID: 30830587

Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

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, Kabzińska 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
Am J Hum Genet 2014 Nov 6;95(5):590-601. Epub 2014 Oct 30 doi: 10.1016/j.ajhg.2014.10.002. PMID: 25439726 Free PMC Article

Inborn errors of copper metabolism.

Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398 Free PMC Article

See all (20)

Clinical prediction guides

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG
Genes (Basel) 2021 Dec 29;13(1) doi: 10.3390/genes13010084. PMID: 35052424 Free PMC Article

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327

Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.

Choi BO, Park MH, Chung KW, Woo HM, Koo H, Chung HK, Choi KG, Park KD, Lee HJ, Hyun YS, Koo SK
Neurogenetics 2013 Feb;14(1):35-42. Epub 2012 Nov 10 doi: 10.1007/s10048-012-0346-5. PMID: 23142943

See all (32)

Recent systematic reviews

A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.

Tsamis KI, Xiromerisiou G, Nikas IP, Giannakis A, Konitsiotis S, Sarmas I
Lab Med 2022 Mar 7;53(2):210-214. doi: 10.1093/labmed/lmab060. PMID: 34480178

See all (1)

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Charcot-Marie-Tooth disease type 2

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Molecular resources

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