Details of Disease

General Information of Disease (ID: DIS7KN5G)

Disease Name	Peripheral neuropathy
Synonyms	peripheral neuropathy; peripheral nerve disorder; neuropathy
Disease Class	8C0Z: Neuropathy
Definition	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.\|Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20
Disease Hierarchy	DISQTIJZ: Neuromuscular disease DISRUHOW: Peripheral nervous system disorder DIS7KN5G: Peripheral neuropathy
ICD Code	ICD-11 ICD-11: 8C0Z Expand ICD-9 356.0,356.8
Disease Identifiers	MONDO ID MONDO_0005244 UMLS CUI C0031117 MedGen ID 18386 HPO ID HP:0009830

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Capsaicin	DMGMF6V	Approved	Small molecular drug	[1]
Mirogabalin	DM5GIWZ	Registered	Small molecular drug	[2]
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This Disease is Treated as An Indication in 11 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
VM-202	DMSW80U	Phase 3	NA	[3]
Cibinetide	DMCFLRH	Phase 2	NA	[4]
EMA-401	DMYOUB6	Phase 2	Small molecular drug	[4]
KRN-5500	DMIIYZS	Phase 2	Small molecular drug	[5]
NYX-2925	DM1P60V	Phase 2	NA	[4]
PDA-002	DMX60IL	Phase 2	NA	[4]
RGH-896	DMCHZAN	Phase 2	Small molecular drug	[6]
RGN-352	DM6ZNX4	Phase 2	Peptide	[4]
TRO-19622	DMMQYF6	Phase 2	Small molecular drug	[7]
AZD-3161	DMICW7D	Phase 1	NA	[8]
WST-057	DM9PNR6	Phase 1	NA	[4]
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⏷ Show the Full List of 11 Drug(s)

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pleodrug	DMNNCOT	Investigative	NA	[9]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 39 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Limited	Biomarker	[10]
ATXN3	TT6A17J	Limited	Genetic Variation	[11]
HSPB8	TTY0OJN	Limited	Genetic Variation	[12]
KIF5A	TTCJPAH	Limited	Genetic Variation	[13]
TLR3	TTD24Y0	Limited	Biomarker	[14]
SIGMAR1	TT5TPI6	Disputed	Biomarker	[15]
LTC4S	TTW7OTG	moderate	Biomarker	[16]
AKR1B1	TTFBNVI	Strong	Biomarker	[17]
ANK1	TTKFPMH	Strong	Biomarker	[18]
CYP3A5	TTHS0OK	Strong	Biomarker	[19]
DGAT2	TTRHEQ4	Strong	Altered Expression	[20]
DLG4	TT9PB26	Strong	Altered Expression	[21]
DNM2	TTVRA5G	Strong	Genetic Variation	[22]
FGF14	TTKJX1V	Strong	Genetic Variation	[23]
GJB1	TTSJIRP	Strong	Biomarker	[24]
GJB3	TTVRQ8L	Strong	Genetic Variation	[25]
GJE1	TTDQPXA	Strong	Genetic Variation	[26]
GLA	TTIS03D	Strong	Genetic Variation	[27]
GRIN1	TTLD29N	Strong	Posttranslational Modification	[21]
HDAC6	TT5ZKDI	Strong	Biomarker	[28]
HMBS	TTT0HW3	Strong	Biomarker	[29]
MAG	TT9XFON	Strong	Biomarker	[30]
MAP4	TT0VFPN	Strong	Genetic Variation	[31]
MTM1	TTY2TCU	Strong	Genetic Variation	[32]
NRG4	TTWAGKJ	Strong	Altered Expression	[33]
PTPN13	TT405FP	Strong	Biomarker	[34]
RAB7A	TTF6WAQ	Strong	Genetic Variation	[35]
SCN2A	TTLJTUF	Strong	Genetic Variation	[36]
SCN4A	TT84DRB	Strong	Genetic Variation	[37]
SCN9A	TT4G2JS	Strong	Genetic Variation	[38]
SLC12A6	TT8DFHE	Strong	Biomarker	[39]
SLC47A1	TTMHCGA	Strong	Biomarker	[40]
TRPV1	TTMI6F5	Strong	Altered Expression	[41]
TRPV4	TTKP2SU	Strong	Biomarker	[42]
TTR	TTPOYU7	Strong	Biomarker	[43]
TUBB1	TT63KYR	Strong	Biomarker	[31]
TYMP	TTO0IB8	Strong	Genetic Variation	[44]
VSIR	TT51SK8	Strong	Genetic Variation	[26]
PDK3	TTDEQIP	Definitive	Genetic Variation	[45]
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⏷ Show the Full List of 39 DTT(s)

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A4	DT2EG60	Limited	Biomarker	[40]
ABCD1	DTKM9DZ	Strong	Genetic Variation	[46]
SLC22A5	DT3HUVD	Strong	Genetic Variation	[47]
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This Disease Is Related to 8 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1A1	DED2FW3	Limited	Genetic Variation	[48]
PMM2	DEBRX3L	Limited	Genetic Variation	[49]
CYP2C8	DES5XRU	moderate	Genetic Variation	[50]
FXN	DEXVHDB	Strong	Biomarker	[51]
GPT	DER5HFI	Strong	Biomarker	[52]
NMNAT2	DE2HB58	Strong	Biomarker	[53]
SPR	DEJVDAT	Strong	Biomarker	[54]
HINT1	DEWJATF	Definitive	Biomarker	[55]
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⏷ Show the Full List of 8 DME(s)

This Disease Is Related to 108 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIRE	OTA7G1Y1	Limited	Biomarker	[56]
ARHGEF10	OTHJ1Y4I	Limited	Autosomal dominant	[57]
CAV3	OTWSFDB4	Limited	Biomarker	[58]
CPT1C	OT8F1MBF	Limited	Biomarker	[59]
GARS1	OT5B6R9Y	Limited	Genetic Variation	[60]
GFER	OTVK43OK	Limited	Genetic Variation	[48]
ITIH4	OT460OO1	Limited	Biomarker	[61]
LITAF	OTT5JX1F	Limited	Genetic Variation	[62]
MYO5A	OTMWLP3E	Limited	Biomarker	[59]
RHOBTB2	OT2DATFX	Limited	Genetic Variation	[59]
SBF2	OTBB8NO8	Limited	Biomarker	[63]
SETX	OTG3JNOQ	Limited	Genetic Variation	[64]
SOX8	OTEJXYZM	Limited	Altered Expression	[59]
SPG11	OTZ7LJX4	Limited	Biomarker	[65]
SBF1	OTW6I9RV	Disputed	Genetic Variation	[66]
AARS1	OTW8D813	Strong	Genetic Variation	[67]
AGTPBP1	OTR92JFR	Strong	Biomarker	[68]
ANO10	OTG3BNOU	Strong	Genetic Variation	[69]
APTX	OTPAS5G8	Strong	Biomarker	[70]
ARTN	OTWIWGL6	Strong	Biomarker	[71]
ATAD3A	OTWF6HBP	Strong	Genetic Variation	[72]
ATL1	OTR2788Y	Strong	Genetic Variation	[73]
ATP6	OTPHOGLX	Strong	Biomarker	[74]
ATXN7	OTL3YF1H	Strong	Genetic Variation	[23]
AVIL	OTUK67IT	Strong	Biomarker	[75]
CCNH	OTKDU3SR	Strong	Genetic Variation	[76]
CST7	OTQWZUVQ	Strong	Biomarker	[77]
CUL4B	OT2QX4DO	Strong	Genetic Variation	[78]
D2HGDH	OTLHXW69	Strong	Genetic Variation	[79]
DBNL	OTT2OQOV	Strong	Biomarker	[77]
DCLRE1A	OT68PVSD	Strong	Genetic Variation	[80]
DHH	OT3B7721	Strong	Genetic Variation	[81]
DNAJB5	OT7WDJ5C	Strong	Genetic Variation	[82]
DYNC1I1	OTFX1KCG	Strong	Genetic Variation	[26]
EBF2	OTFWZE51	Strong	Biomarker	[83]
EIF2B5	OTV3R4RB	Strong	Genetic Variation	[84]
ELP1	OTYEWBF7	Strong	Genetic Variation	[85]
EP400	OTVQ75NX	Strong	Biomarker	[86]
EPGN	OT3EG75W	Strong	Biomarker	[87]
FBLN5	OTLVNZ8U	Strong	Genetic Variation	[88]
FBXO7	OTGTN8TJ	Strong	Biomarker	[89]
FGD4	OTYXJQCW	Strong	Genetic Variation	[50]
FIG4	OT501PY9	Strong	Genetic Variation	[90]
GDAP1	OTQE1O25	Strong	Genetic Variation	[91]
HADHA	OTO557N2	Strong	Biomarker	[92]
HARS1	OTHOEOTS	Strong	Genetic Variation	[93]
HARS2	OTC8X3H9	Strong	Genetic Variation	[94]
IARS2	OTDX4SCA	Strong	CausalMutation	[95]
IFRD1	OT4SQMLQ	Strong	Genetic Variation	[96]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[97]
IMMT	OTBDSLE7	Strong	Genetic Variation	[98]
INF2	OT8ZM13C	Strong	Biomarker	[99]
KARS1	OT0EU4SV	Strong	Genetic Variation	[100]
KIF1A	OT3JVEGV	Strong	CausalMutation	[101]
KIF1B	OTI1XQTO	Strong	Genetic Variation	[102]
KIFBP	OT1XADKG	Strong	Genetic Variation	[103]
LAMA1	OTQZMP86	Strong	Biomarker	[104]
LAMA2	OTFROQWE	Strong	Genetic Variation	[105]
LRIG2	OTDUBLIH	Strong	Biomarker	[106]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[107]
MAP1B	OTVXW089	Strong	Biomarker	[108]
MCF2L2	OTOGFMIH	Strong	Biomarker	[109]
MFF	OTEVIXOM	Strong	Biomarker	[110]
MPV17	OT579DMU	Strong	Biomarker	[111]
MPZ	OTAR2YXH	Strong	Genetic Variation	[112]
MTMR2	OTNCYGBP	Strong	Genetic Variation	[32]
MYOT	OTCEW5XW	Strong	Genetic Variation	[113]
ND2	OTG9OHOX	Strong	Biomarker	[114]
ND5	OT45LW1K	Strong	Genetic Variation	[115]
NEFL	OTQESJV4	Strong	Biomarker	[55]
NGLY1	OTZBQD5Q	Strong	Genetic Variation	[116]
NIPA1	OT9ODC8X	Strong	Biomarker	[117]
PEX5	OTK4LMG7	Strong	CausalMutation	[118]
PLP1	OT8CM9CX	Strong	Biomarker	[89]
PMP2	OTKYV2NE	Strong	Biomarker	[119]
PMP22	OTXWYWCZ	Strong	Biomarker	[120]
POU3F1	OTYARA94	Strong	Biomarker	[121]
PRLHR	OT1THGOP	Strong	Genetic Variation	[122]
PRPH	OT6VUH78	Strong	Genetic Variation	[123]
PRPS1	OTN3A6CN	Strong	Biomarker	[124]
PRX	OT34Z10B	Strong	Biomarker	[125]
PSMB1	OTYRFBAH	Strong	Genetic Variation	[26]
PTRH2	OTBU39Q1	Strong	Genetic Variation	[126]
RAB3GAP1	OT4DQ8F2	Strong	Genetic Variation	[127]
RAI1	OTKLQU00	Strong	Biomarker	[128]
REEP1	OTEMVFX7	Strong	Genetic Variation	[129]
RPIA	OT805SMH	Strong	Biomarker	[130]
SACS	OTZGXQ8A	Strong	Genetic Variation	[131]
SARM1	OTEP4I5O	Strong	Biomarker	[132]
SCYL1	OTQ0IN7P	Strong	Genetic Variation	[133]
SEPTIN3	OTOZ6PIM	Strong	Genetic Variation	[134]
SEPTIN9	OT1VMRFQ	Strong	Genetic Variation	[135]
SH3TC2	OTJ6XY2A	Strong	Biomarker	[136]
SPAST	OTIF3AJI	Strong	Genetic Variation	[137]
SPTLC1	OTN0Z98K	Strong	Genetic Variation	[138]
SPTLC2	OTBTMH1Z	Strong	Genetic Variation	[138]
SPTLC3	OTZDX6PT	Strong	Genetic Variation	[82]
ST3GAL4	OTNENJZQ	Strong	Biomarker	[17]
SURF1	OTAINRSS	Strong	Genetic Variation	[139]
TCHHL1	OTAMOJGN	Strong	Biomarker	[140]
TCN2	OT41D0L3	Strong	Genetic Variation	[141]
TFG	OT2KJENI	Strong	Biomarker	[142]
TRIM2	OT0V1YVC	Strong	Genetic Variation	[143]
TSFM	OTP6OKPJ	Strong	Genetic Variation	[144]
CEP72	OTVYNPNL	Definitive	Genetic Variation	[145]
CYP2U1	OT6RXLXS	Definitive	Biomarker	[55]
MFN2	OTPYN8A3	Definitive	Genetic Variation	[146]
SLC25A46	OTFEV9SV	Definitive	Biomarker	[147]
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⏷ Show the Full List of 108 DOT(s)

References

1	Capsaicin FDA Label
2	Antibodies and venom peptides: new modalities for ion channels. Nat Rev Drug Discov. 2019 May;18(5):339-357.
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4	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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7	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 8542).
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19	Severe Vincristine-induced Neuropathic Pain in a CYP3A5 Nonexpressor With Reduced CYP3A4/5 Activity: Case Study.Clin Ther. 2016 Jan 1;38(1):216-20. doi: 10.1016/j.clinthera.2015.10.017. Epub 2015 Nov 10.
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21	nNOS-PSD95 interactions activate the PKC- isoform leading to increased GluN1 phosphorylation and the development of neuropathic mechanical allodynia in mice.Neurosci Lett. 2019 Jun 11;703:156-161. doi: 10.1016/j.neulet.2019.03.043. Epub 2019 Mar 26.
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24	Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.J Theor Biol. 2018 Jan 21;437:305-317. doi: 10.1016/j.jtbi.2017.10.028. Epub 2017 Oct 28.
25	EKV mutant connexin 31 associated cell death is mediated by ER stress.Hum Mol Genet. 2009 Dec 15;18(24):4734-45. doi: 10.1093/hmg/ddp436. Epub 2009 Sep 14.
26	Genetic variation associated with bortezomib-induced peripheral neuropathy.Pharmacogenet Genomics. 2011 Mar;21(3):121-9. doi: 10.1097/FPC.0b013e3283436b45.
27	A novel mutation of -galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.Int J Neurosci. 2017 May;127(5):448-453. doi: 10.1080/00207454.2016.1191483. Epub 2016 Jun 3.
28	Cell-specific role of histone deacetylase 6 in chemotherapy-induced mechanical allodynia and loss of intraepidermal nerve fibers.Pain. 2019 Dec;160(12):2877-2890. doi: 10.1097/j.pain.0000000000001667.
29	Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.J Clin Invest. 1999 Apr;103(8):1127-34. doi: 10.1172/JCI5986.
30	Oxaliplatin-induced neuropathy: the preventive effect of a new super-oxide dismutase modulator.Oncotarget. 2019 Nov 5;10(60):6418-6431. doi: 10.18632/oncotarget.27248. eCollection 2019 Nov 5.
31	Polymorphisms of the vincristine pathway and response to treatment in children with childhood acute lymphoblastic leukemia. Pharmacogenomics. 2014 Jun;15(8):1105-16.
32	Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Hum Mol Genet. 2017 Oct 1;26(19):3736-3748. doi: 10.1093/hmg/ddx258.
33	Decreased plasma neuregulin 4 levels are associated with peripheral neuropathy in Chinese patients with newly diagnosed type 2 diabetes: A cross-sectional study.Cytokine. 2019 Jan;113:356-364. doi: 10.1016/j.cyto.2018.10.007. Epub 2018 Oct 12.
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36	Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy.Oncology. 2009;77(3-4):254-6. doi: 10.1159/000236049. Epub 2009 Sep 7.
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38	Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy.BMC Cancer. 2017 Jan 19;17(1):63. doi: 10.1186/s12885-016-3031-5.
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41	Long-Term Diabetic Microenvironment Augments the Decay Rate of Capsaicin-Induced Currents in Mouse Dorsal Root Ganglion Neurons.Molecules. 2019 Feb 21;24(4):775. doi: 10.3390/molecules24040775.
42	Kinin Receptors Sensitize TRPV4 Channel and Induce Mechanical Hyperalgesia: Relevance to Paclitaxel-Induced Peripheral Neuropathy in Mice.Mol Neurobiol. 2018 Mar;55(3):2150-2161. doi: 10.1007/s12035-017-0475-9. Epub 2017 Mar 10.
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49	Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC Med Genet. 2019 Nov 14;20(1):181. doi: 10.1186/s12881-019-0902-z.
50	Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.Br J Cancer. 2016 Nov 22;115(11):1335-1342. doi: 10.1038/bjc.2016.326. Epub 2016 Oct 13.
51	Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.Neurotherapeutics. 2019 Apr;16(2):432-449. doi: 10.1007/s13311-018-00706-z.
52	Efficiencies of Low-Level Laser Therapy (LLLT) and Gabapentin in the Management of Peripheral Neuropathy: Diabetic Neuropathy.Appl Biochem Biotechnol. 2018 Sep;186(1):161-173. doi: 10.1007/s12010-018-2729-z. Epub 2018 Mar 12.
53	Primary Traumatic Axonopathy in Mice Subjected to Impact Acceleration: A Reappraisal of Pathology and Mechanisms with High-Resolution Anatomical Methods.J Neurosci. 2018 Apr 18;38(16):4031-4047. doi: 10.1523/JNEUROSCI.2343-17.2018. Epub 2018 Mar 22.
54	Analysis of peripheral nerve and autonomic nervous system function and the stage of microangiopathy in patients with secondary Raynaud's phenomenon in the course of connective tissue diseases.Adv Clin Exp Med. 2018 Nov;27(11):1587-1592. doi: 10.17219/acem/75618.
55	ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
56	Aire-deficient mice provide a model of corneal and lacrimal gland neuropathy in Sjgren's syndrome.PLoS One. 2017 Sep 19;12(9):e0184916. doi: 10.1371/journal.pone.0184916. eCollection 2017.
57	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.
58	Reversal of Peripheral Neuropathic Pain by the Small-Molecule Natural Product Physalin F via Block of CaV2.3 (R-Type) and CaV2.2 (N-Type) Voltage-Gated Calcium Channels.ACS Chem Neurosci. 2019 Jun 19;10(6):2939-2955. doi: 10.1021/acschemneuro.9b00166. Epub 2019 Apr 18.
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