Details of Disease

Disease Name

Charcot-Marie-Tooth disease type 3

hypertrophic neuropathy of infancy; hereditary motor and sensory neuropathy 3; DSN; HMSN III; HMSN3; Charcot-Marie-Tooth disease, type 3; Dejerine-Sottas Syndrome; CMT3; HMSN 3; hereditary motor and sensory neuropathy type III; Charcot-Marie-Tooth disease type 3; hereditary motor and sensory neuropathy type 3; hypertrophic neuropathy of Dejerine-Sottas; Dejerine-Sottas syndrome; dejerine-sottas disease; Dejerine-Sottas neuropathy

Definition

Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit

Disease Hierarchy

DIS3BT2L: Charcot marie tooth disease

DIS6DQK1: Charcot-Marie-Tooth disease type 3

Disease Identifiers

MONDO ID

MONDO_0007790

MESH ID

D015417

UMLS CUI

C0011195

OMIM ID

145900

MedGen ID

3710

Orphanet ID

64748

SNOMED CT ID

111499002

General Information of Disease (ID: DIS6DQK1)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EGLN2	TTMHFRY	Limited	Altered Expression	[1]
FGL2	TTYBS89	Limited	Biomarker	[2]
ITGA1	TTPERWV	Limited	Biomarker	[3]
TPSAB1	TTM1TDX	Limited	Genetic Variation	[4]
AMACR	TTLN1AP	Strong	Biomarker	[5]
DUSP10	TTF3RJ0	Strong	Biomarker	[6]
GJB1	TTSJIRP	Strong	Genetic Variation	[7]
NR0B1	TTTK36V	Strong	Biomarker	[8]
RNMT	TTG45HY	Strong	Genetic Variation	[9]
TAP1	TT7JZI8	Strong	Genetic Variation	[10]
SLC12A6	TT8DFHE	Definitive	Biomarker	[11]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A4	DT2EG60	Limited	Altered Expression	[12]
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This Disease Is Related to 34 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHTKD1	OTDQLSNT	Limited	Biomarker	[13]
FGD4	OTYXJQCW	Limited	Biomarker	[14]
FIG4	OT501PY9	Limited	Biomarker	[15]
GARS1	OT5B6R9Y	Limited	Biomarker	[16]
GDAP1	OTQE1O25	Limited	Biomarker	[17]
GPR4	OTIBF32I	Limited	Biomarker	[18]
GPX2	OTXI2NTI	Limited	Altered Expression	[19]
HLTF	OTRX2OSF	Limited	Genetic Variation	[20]
IVNS1ABP	OTYHL4I7	Limited	Genetic Variation	[21]
LPIN1	OTQ75KF2	Limited	Altered Expression	[22]
LRSAM1	OTOKWR6C	Limited	Biomarker	[23]
MTMR2	OTNCYGBP	Limited	Biomarker	[24]
NDRG1	OTVO66BO	Limited	Biomarker	[25]
NEFL	OTQESJV4	Limited	Biomarker	[26]
PILRA	OTBE0PLF	Limited	Biomarker	[27]
PLCB4	OTPA0QHW	Limited	Genetic Variation	[28]
SBF2	OTBB8NO8	Limited	Biomarker	[29]
SH3TC2	OTJ6XY2A	Limited	Biomarker	[30]
TPSB2	OTN769MT	Limited	Genetic Variation	[4]
MPZ	OTAR2YXH	Supportive	Autosomal dominant	[31]
PMP22	OTXWYWCZ	Supportive	Autosomal dominant	[32]
DSTN	OTMXO4YB	moderate	Biomarker	[33]
EGR2	OTAVQ78J	Moderate	Semidominant	[34]
MAD2L1BP	OT2O2IUJ	moderate	Biomarker	[9]
PRX	OT34Z10B	Moderate	Autosomal recessive	[34]
PXMP2	OTYHX5MI	moderate	Genetic Variation	[35]
CBFA2T3	OTOJ10S1	Strong	Biomarker	[36]
CBLIF	OTNE20WU	Strong	Altered Expression	[37]
COX6A1	OT77MV8G	Strong	Biomarker	[38]
KIF1B	OTI1XQTO	Strong	Biomarker	[9]
LMNA	OT3SG7ZR	Strong	Biomarker	[39]
OCLN	OTSUTVWL	Strong	Biomarker	[40]
RFC1	OT3L5PK3	Strong	Biomarker	[41]
DYNC1H1	OTD1KRKO	Definitive	Biomarker	[42]
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⏷ Show the Full List of 34 DOT(s)

References

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12	Organic cation transporter Octn1-mediated uptake of food-derived antioxidant ergothioneine into infiltrating macrophages during intestinal inflammation in mice.Drug Metab Pharmacokinet. 2015 Jun;30(3):231-9. doi: 10.1016/j.dmpk.2015.02.003. Epub 2015 Feb 25.
13	DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.Mol Cell Biol. 2018 Jun 14;38(13):e00085-18. doi: 10.1128/MCB.00085-18. Print 2018 Jul 1.
14	Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.Brain. 2012 Dec;135(Pt 12):3567-83. doi: 10.1093/brain/aws275. Epub 2012 Nov 20.
15	Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.Hum Mol Genet. 2012 Aug 15;21(16):3525-34. doi: 10.1093/hmg/dds179. Epub 2012 May 11.
16	Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.PLoS Genet. 2011 Dec;7(12):e1002399. doi: 10.1371/journal.pgen.1002399. Epub 2011 Dec 1.
17	Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.PLoS Genet. 2015 Apr 10;11(4):e1005115. doi: 10.1371/journal.pgen.1005115. eCollection 2015 Apr.
18	GPR4 deficiency alleviates intestinal inflammation in a mouse model of acute experimental colitis.Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):569-584. doi: 10.1016/j.bbadis.2016.12.005. Epub 2016 Dec 7.
19	GPx2 Induction Is Mediated Through STAT Transcription Factors During Acute Colitis.Inflamm Bowel Dis. 2015 Sep;21(9):2078-89. doi: 10.1097/MIB.0000000000000464.
20	Helicase-like transcription factor (Hltf) gene-deletion promotes oxidative phosphorylation (OXPHOS) in colorectal tumors of AOM/DSS-treated mice.PLoS One. 2019 Aug 28;14(8):e0221751. doi: 10.1371/journal.pone.0221751. eCollection 2019.
21	Impact of dengue virus infection and its control.FEMS Immunol Med Microbiol. 1997 Aug;18(4):291-300. doi: 10.1111/j.1574-695X.1997.tb01058.x.
22	The phosphatidic acid phosphatase lipin-1 facilitates inflammation-driven colon carcinogenesis.JCI Insight. 2018 Sep 20;3(18):e97506. doi: 10.1172/jci.insight.97506. eCollection 2018 Sep 20.
23	Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.Dis Model Mech. 2013 May;6(3):780-92. doi: 10.1242/dmm.010942. Epub 2013 Mar 8.
24	An animal model for Charcot-Marie-Tooth disease type 4B1.Hum Mol Genet. 2005 Dec 1;14(23):3685-95. doi: 10.1093/hmg/ddi400. Epub 2005 Oct 25.
25	Ndrg1 in development and maintenance of the myelin sheath.Neurobiol Dis. 2011 Jun;42(3):368-80. doi: 10.1016/j.nbd.2011.01.030. Epub 2011 Feb 12.
26	Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.Hum Mol Genet. 2015 Apr 15;24(8):2163-74. doi: 10.1093/hmg/ddu736. Epub 2014 Dec 30.
27	Negative regulation of DSS-induced experimental colitis by PILR.Int Immunol. 2015 Jun;27(6):307-14. doi: 10.1093/intimm/dxv004. Epub 2015 Feb 20.
28	Joint ancestry and association test indicate two distinct pathogenic pathways involved in classical dengue fever and dengue shock syndrome.PLoS Negl Trop Dis. 2018 Feb 15;12(2):e0006202. doi: 10.1371/journal.pntd.0006202. eCollection 2018 Feb.
29	Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4916-21. doi: 10.1073/pnas.0800742105. Epub 2008 Mar 18.
30	SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29.
31	Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep;17(3):451-60. doi: 10.1016/s0896-6273(00)80177-4.
32	Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456.
33	G-triplex based molecular beacon with duplex-specific nuclease amplification for the specific detection of microRNA.Analyst. 2019 Aug 16;144(17):5201-5206. doi: 10.1039/c9an01075k.
34	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
35	PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes.Acta Neuropathol. 1998 Jul;96(1):13-21. doi: 10.1007/s004010050855.
36	Kaiso is required for MTG16-dependent effects on colitis-associated carcinoma.Oncogene. 2019 Jun;38(25):5091-5106. doi: 10.1038/s41388-019-0777-7. Epub 2019 Mar 11.
37	Preventive Effect of Cardiotrophin-1 Administration before DSS-Induced Ulcerative Colitis in Mice.J Clin Med. 2019 Dec 1;8(12):2086. doi: 10.3390/jcm8122086.
38	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.
39	Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17.
40	Acer palmatum thumb. Ethanol Extract Alleviates Interleukin-6-Induced Barrier Dysfunction and Dextran Sodium Sulfate-Induced Colitis by Improving Intestinal Barrier Function and Reducing Inflammation.J Immunol Res. 2018 Oct 8;2018:5718396. doi: 10.1155/2018/5718396. eCollection 2018.
41	Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
42	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.