Details of Disease

General Information of Disease (ID: DIS3BT2L)

Disease Name	Charcot marie tooth disease
Synonyms	Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy; Charcot Marie Tooth disease; hereditary motor and sensory neuropathy; hereditary sensorimotor neuropathy; Charcot Marie Tooth muscular atrophy; CMT; Charcot-Marie-Tooth disease; CMT/HMSN; peroneal muscular atrophy; Charcot-Marie-Tooth hereditary neuropathy; CMT - Charcot-Marie-Tooth disease
Disease Class	8C21: Hereditary sensory/autonomic neuropathy
Definition	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS3BT2L: Charcot marie tooth disease
ICD Code	ICD-11 ICD-11: 8C21.Z Expand ICD-11 '8C21.Z
Disease Identifiers	MONDO ID MONDO_0015626 MESH ID D002607 UMLS CUI C0007959 MedGen ID 2980 Orphanet ID 166

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CMT-02	DM9QICO	Phase 3	NA	[1]
PXT-3003	DMM0HTM	Phase 3	NA	[2]
ACE-083	DM7MEE7	Phase 2	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 90 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YARS1	OTG81SGD	Definitive	Autosomal dominant	[3]
AHNAK2	OTD2X4BX	Limited	Autosomal recessive	[34]
CFAP276	OTL087SC	Limited	Autosomal dominant	[4]
CTDP1	OTHHFW17	Limited	CausalMutation	[35]
DGAT2	OTE5PDD0	Limited	Autosomal dominant	[4]
MAD2L1BP	OT2O2IUJ	Limited	Biomarker	[36]
MARS1	OTLJ6MHJ	Limited	Autosomal dominant	[3]
PMP2	OTKYV2NE	Limited	Autosomal dominant	[3]
RAB18	OTNMAQLS	Disputed	Biomarker	[24]
SLC25A46	OTFEV9SV	Disputed	Biomarker	[37]
AARS1	OTW8D813	moderate	Genetic Variation	[38]
DRP2	OTWR7WGU	Moderate	X-linked	[4]
GNB4	OTC1GPHA	Moderate	Autosomal dominant	[3]
JPH1	OTCAILYU	moderate	Genetic Variation	[39]
LITAF	OTT5JX1F	Moderate	Autosomal dominant	[3]
NDRG1	OTVO66BO	moderate	Genetic Variation	[40]
ACD	OTC54EPO	Strong	Biomarker	[41]
AIFM1	OTKPWB7Q	Strong	Genetic Variation	[42]
APCDD1	OTV9AD0L	Strong	Biomarker	[43]
ARHGEF10	OTHJ1Y4I	Strong	Genetic Variation	[44]
ATP6	OTPHOGLX	Strong	Genetic Variation	[45]
BAG3	OTVXYUDQ	Strong	Genetic Variation	[46]
BSCL2	OT73V6Y4	Strong	Biomarker	[5]
BUD31	OTN3HZYF	Strong	Genetic Variation	[47]
CANX	OTYP1F6J	Strong	Genetic Variation	[27]
CBLL2	OTB4AD3V	Strong	Genetic Variation	[48]
COX10	OTCYIS0L	Strong	Genetic Variation	[49]
COX6A1	OT77MV8G	Strong	Genetic Variation	[50]
DCTN2	OTMB4IXD	Strong	Genetic Variation	[51]
DHTKD1	OTDQLSNT	Strong	Genetic Variation	[52]
DNAJB2	OTZHPV5M	Strong	Genetic Variation	[53]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[54]
EEF1A1	OT00THXS	Strong	Genetic Variation	[55]
EMP2	OTPS2H0L	Strong	Biomarker	[56]
FBLN5	OTLVNZ8U	Strong	Biomarker	[57]
GSTT2	OTANW3TJ	Strong	Altered Expression	[58]
GSTT2B	OTCMRDLE	Strong	Altered Expression	[58]
HOXD10	OT0NOWU2	Strong	Genetic Variation	[59]
HSPB2	OTS01646	Strong	Genetic Variation	[17]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[60]
IQSEC2	OTYFRM4Q	Strong	Biomarker	[61]
KARS1	OT0EU4SV	Strong	Biomarker	[62]
KIF1B	OTI1XQTO	Strong	Biomarker	[36]
LRIG3	OT6TKZTU	Strong	Biomarker	[51]
MCM3AP	OT895FEC	Strong	Genetic Variation	[63]
MFN1	OTCBXQZF	Strong	Altered Expression	[64]
MORC2	OT52A8BJ	Strong	Genetic Variation	[65]
MTMR2	OTNCYGBP	Strong	Biomarker	[66]
MUL1	OT2JC9YR	Strong	Genetic Variation	[48]
MYO1A	OTS80FOD	Strong	Genetic Variation	[51]
NEFH	OTMSCW5I	Strong	Genetic Variation	[67]
NRG2	OTMDE844	Strong	Biomarker	[68]
PFN2	OT5SSSA7	Strong	Biomarker	[36]
PLEK	OTB73XXA	Strong	Genetic Variation	[69]
PLEKHM3	OT1YA9CS	Strong	Biomarker	[70]
PRPS1	OTN3A6CN	Strong	Genetic Variation	[71]
PRX	OT34Z10B	Strong	Biomarker	[34]
PXMP2	OTYHX5MI	Strong	Genetic Variation	[72]
RAB7B	OT60A0E9	Strong	Genetic Variation	[24]
RER1	OTTBAUBP	Strong	Genetic Variation	[27]
ROM1	OTE7H0YV	Strong	Biomarker	[73]
SACS	OTZGXQ8A	Strong	Genetic Variation	[74]
SBF1	OTW6I9RV	Strong	Genetic Variation	[75]
SBF2	OTBB8NO8	Strong	Genetic Variation	[76]
SCARB2	OTN929M8	Strong	Genetic Variation	[14]
SETX	OTG3JNOQ	Strong	Biomarker	[77]
SH3TC2	OTJ6XY2A	Strong	Genetic Variation	[78]
SLA2	OTNVE666	Strong	Biomarker	[32]
SLC2A4RG	OTW3LX8D	Strong	Genetic Variation	[79]
SLURP1	OT89YD2E	Strong	Genetic Variation	[9]
SMN2	OT54RLO1	Strong	Biomarker	[80]
SNRPN	OTQB1ID1	Strong	Genetic Variation	[81]
SOX10	OTF25ULQ	Strong	Biomarker	[82]
SPG11	OTZ7LJX4	Strong	Genetic Variation	[83]
SPTLC1	OTN0Z98K	Strong	Biomarker	[84]
SPTLC2	OTBTMH1Z	Strong	Biomarker	[85]
SURF1	OTAINRSS	Strong	Genetic Variation	[86]
TEKT3	OTABXTR0	Strong	Biomarker	[87]
TFG	OT2KJENI	Strong	Genetic Variation	[88]
TRIM2	OT0V1YVC	Strong	Biomarker	[89]
DNM2	OTUYU2U3	Definitive	Autosomal dominant	[3]
EGR2	OTAVQ78J	Definitive	Semidominant	[3]
FGD4	OTYXJQCW	Definitive	Autosomal recessive	[3]
FIG4	OT501PY9	Definitive	Autosomal recessive	[3]
GDAP1	OTQE1O25	Definitive	Semidominant	[3]
HINT1	OTQIR8LF	Definitive	Autosomal recessive	[3]
MPZ	OTAR2YXH	Definitive	Autosomal dominant	[3]
MYO15A	OTVR4DV8	Definitive	Genetic Variation	[90]
NEFL	OTQESJV4	Definitive	Autosomal dominant	[3]
SORD	OTC44CR6	Definitive	Autosomal recessive	[3]
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⏷ Show the Full List of 90 DOT(s)

This Disease Is Related to 28 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DGAT2	TT8N5V1	Limited	Autosomal dominant	[4]
RNMT	TTG45HY	Limited	Genetic Variation	[5]
TRPV4	TTKP2SU	Limited	Genetic Variation	[6]
APOA2	TTGQA9W	Strong	Genetic Variation	[7]
ATP1A1	TTWK8D0	Strong	Biomarker	[8]
DCPS	TTLSW9V	Strong	Genetic Variation	[9]
DGAT2	TTRHEQ4	Strong	Genetic Variation	[10]
DMPK	TTZQTY2	Strong	Genetic Variation	[11]
DNM1	TTE3JW9	Strong	Genetic Variation	[12]
GAN	TT6WNG2	Strong	Genetic Variation	[13]
GBA	TT1B5PU	Strong	Genetic Variation	[14]
GJB3	TTVRQ8L	Strong	Genetic Variation	[15]
HDAC6	TT5ZKDI	Strong	Biomarker	[16]
HSPB3	TTLH8WG	Strong	Genetic Variation	[17]
KIF5A	TTCJPAH	Strong	Genetic Variation	[18]
LCAT	TTGZ91P	Strong	Altered Expression	[19]
MTM1	TTY2TCU	Strong	Genetic Variation	[20]
NEDD4	TT1QU6G	Strong	Biomarker	[21]
PDK3	TTDEQIP	Strong	Genetic Variation	[22]
PNKP	TTHR3IE	Strong	Biomarker	[23]
RAB7A	TTF6WAQ	Strong	Genetic Variation	[24]
SGCA	TTS9Q5V	Strong	Biomarker	[25]
SMN1	TT8QL6X	Strong	Genetic Variation	[26]
SYVN1	TT8XKYM	Strong	Genetic Variation	[27]
TSG101	TTHU7JA	Strong	Biomarker	[21]
DNM2	TTVRA5G	Definitive	Autosomal dominant	[3]
HSPB8	TTY0OJN	Definitive	Genetic Variation	[28]
SLC12A6	TT8DFHE	Definitive	Biomarker	[29]
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⏷ Show the Full List of 28 DTT(s)

This Disease Is Related to 7 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Limited	Genetic Variation	[30]
MARS1	DE0K52I	Limited	Autosomal dominant	[3]
HINT1	DEWJATF	Strong	Biomarker	[31]
MARS1	DE0K52I	Strong	Biomarker	[32]
WARS1	DEPVE0M	Strong	Biomarker	[33]
HINT1	DEWJATF	Definitive	Autosomal recessive	[3]
SORD	DEWU03P	Definitive	Autosomal recessive	[3]
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⏷ Show the Full List of 7 DME(s)

References

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32	MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.Eur J Med Genet. 2018 Oct;61(10):616-620. doi: 10.1016/j.ejmg.2018.04.005. Epub 2018 Apr 12.
33	A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.Clin Genet. 2019 Aug;96(2):176-182. doi: 10.1111/cge.13563. Epub 2019 May 27.
34	Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22.
35	Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.Pediatr Neurol. 2005 Oct;33(4):277-9. doi: 10.1016/j.pediatrneurol.2005.04.011.
36	PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15.
37	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
38	Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290.
39	Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.J Neurol. 2018 Mar;265(3):637-646. doi: 10.1007/s00415-018-8743-9. Epub 2018 Jan 25.
40	A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.J Clin Neurosci. 2018 Jul;53:231-234. doi: 10.1016/j.jocn.2018.04.024. Epub 2018 Apr 30.
41	Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.Autophagy. 2019 Jun;15(6):1051-1068. doi: 10.1080/15548627.2019.1569930. Epub 2019 Jan 31.
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46	Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.Muscle Nerve. 2018 Feb;57(2):330-334. doi: 10.1002/mus.25631. Epub 2017 Mar 30.
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48	LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.Hum Mol Genet. 2017 Jun 1;26(11):2034-2041. doi: 10.1093/hmg/ddx089.
49	The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.Genomics. 1997 Nov 15;46(1):61-9. doi: 10.1006/geno.1997.5012.
50	A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am J Hum Genet. 2014 Sep 4;95(3):294-300. doi: 10.1016/j.ajhg.2014.07.013. Epub 2014 Aug 21.
51	Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.Acta Neurol Scand. 2016 Jul;134(1):67-75. doi: 10.1111/ane.12515. Epub 2015 Oct 12.
52	A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse CharcotMarieTooth diseases.Mol Med Rep. 2019 May;19(5):4484-4490. doi: 10.3892/mmr.2019.10058. Epub 2019 Mar 19.
53	Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.Hum Mol Genet. 2017 Feb 1;26(3):611-623. doi: 10.1093/hmg/ddw420.
54	A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.Sci Rep. 2018 Jan 29;8(1):1739. doi: 10.1038/s41598-018-20081-1.
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56	Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet. 2002 Jan;70(1):244-50. doi: 10.1086/337943. Epub 2001 Nov 16.
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63	MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.
64	Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.J Neurosci. 2012 Mar 21;32(12):4145-55. doi: 10.1523/JNEUROSCI.6338-11.2012.
65	Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006.
66	A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.
67	Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.Neuromuscul Disord. 2019 May;29(5):392-397. doi: 10.1016/j.nmd.2019.02.007. Epub 2019 Feb 20.
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69	Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.Neuromuscul Disord. 2010 Jan;20(1):49-52. doi: 10.1016/j.nmd.2009.10.005. Epub 2009 Nov 22.
70	Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.Int J Mol Sci. 2019 Jan 18;20(2):403. doi: 10.3390/ijms20020403.
71	A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.Metab Brain Dis. 2018 Apr;33(2):589-600. doi: 10.1007/s11011-017-0121-2. Epub 2017 Oct 18.
72	Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).J Laryngol Otol. 2006 Jun;120(6):508-10. doi: 10.1017/S0022215106000727.
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