Details of Disease

General Information of Disease (ID: DISYWI6M)

Disease Name Peripheral sensory neuropathies
Synonyms sensory neuropathy; sensory nerve peripheral neuropathy; peripheral sensory neuropathy; peripheral neuropathy of sensory nerve
Disease Class LD27: Skin/mucosal anomaly
Definition Inflammation or degeneration of the sensory nerves.
Disease Hierarchy
DIS7KN5G: Peripheral neuropathy
DISYWI6M: Peripheral sensory neuropathies
ICD Code
ICD-11
ICD-11: LD27.3
ICD-10
ICD-10: Q84.2
Disease Identifiers
MONDO ID
MONDO_0002321
UMLS CUI
C0151313
MedGen ID
101791
HPO ID
HP:0000763
SNOMED CT ID
789588003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Xaliproden DM1JCW8 Phase 3 Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 9 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GART TTEXB9Z Limited Genetic Variation [2]
EPHA5 TTV9KOD moderate Genetic Variation [3]
GJB1 TTSJIRP moderate Genetic Variation [4]
GJC2 TTPOCAL moderate Biomarker [5]
RAB7A TTF6WAQ moderate Genetic Variation [6]
TRPV4 TTKP2SU moderate Genetic Variation [7]
BACE1 TTJUNZF Strong Biomarker [8]
CAMKK2 TTV298Y Strong Biomarker [9]
GCH1 TTLSWP6 Strong Biomarker [10]
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⏷ Show the Full List of 9 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC7A9 DTP7AEQ moderate Biomarker [11]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FXN DEXVHDB Strong Biomarker [12]
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This Disease Is Related to 29 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GARS1 OT5B6R9Y Limited Genetic Variation [2]
RRM2B OTE8GBUR Limited Biomarker [13]
AAAS OTJT9T23 moderate Genetic Variation [14]
ATL1 OTR2788Y moderate Genetic Variation [15]
BSCL2 OT73V6Y4 moderate Genetic Variation [5]
DDX39A OT0Z6E1K moderate Biomarker [11]
DDX39B OTEVCFVU moderate Biomarker [11]
ERLIN2 OT551BVG moderate Genetic Variation [5]
FGD4 OTYXJQCW moderate Genetic Variation [3]
FZD3 OTIWDN78 moderate Genetic Variation [3]
GDAP1 OTQE1O25 moderate Genetic Variation [16]
IGHMBP2 OTAZFPF5 moderate Biomarker [17]
KCNS1 OTD8GEO0 moderate Biomarker [10]
KIF1A OT3JVEGV moderate Genetic Variation [18]
MPZ OTAR2YXH moderate Genetic Variation [19]
MTMR2 OTNCYGBP moderate Genetic Variation [20]
ND1 OTCLGIXV moderate Genetic Variation [21]
RAB7B OT60A0E9 moderate Genetic Variation [6]
SAMHD1 OTBCIBC7 moderate Genetic Variation [13]
SPTLC1 OTN0Z98K moderate Genetic Variation [22]
AIFM1 OTKPWB7Q Strong Genetic Variation [23]
ATL3 OTQVFKMV Strong Genetic Variation [24]
CCT4 OT5D452X Strong Genetic Variation [25]
CCT5 OTPZ38BT Strong Genetic Variation [5]
FITM2 OTED0W1S Strong Genetic Variation [26]
KIF1B OTI1XQTO Strong Genetic Variation [27]
LITAF OTT5JX1F Strong Biomarker [28]
SPTLC3 OTZDX6PT Strong Genetic Variation [29]
MAD2L1BP OT2O2IUJ Definitive Biomarker [30]
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⏷ Show the Full List of 29 DOT(s)

References

1 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800001601)
2 A recurrent GARS mutation causes distal hereditary motor neuropathy.J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22.
3 A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.Clin Cancer Res. 2012 Sep 15;18(18):5099-109. doi: 10.1158/1078-0432.CCR-12-1590. Epub 2012 Jul 27.
4 Contribution of copy number variations in CMT1X: a retrospective study.Eur J Neurol. 2015 Feb;22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12.
5 Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30.
6 SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1022-4. doi: 10.1136/jnnp.2004.050062.
7 The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology. 2003 Apr 8;60(7):1151-6. doi: 10.1212/01.wnl.0000055900.30217.ea.
8 miR-15b mediates oxaliplatin-induced chronic neuropathic pain through BACE1 down-regulation.Br J Pharmacol. 2017 Mar;174(5):386-395. doi: 10.1111/bph.13698. Epub 2017 Jan 23.
9 Polymorphisms in P2X4R and CAMKK2 may affect TNF production: Implications for a role in HIV-associated sensory neuropathy.Hum Immunol. 2018 Apr;79(4):224-227. doi: 10.1016/j.humimm.2018.02.002. Epub 2018 Feb 8.
10 KCNS1, but not GCH1, is associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy: a genetic association study.J Acquir Immune Defic Syndr. 2013 May 1;63(1):27-30. doi: 10.1097/QAI.0b013e318285cf36.
11 Cytokine genotype suggests a role for inflammation in nucleoside analog-associated sensory neuropathy (NRTI-SN) and predicts an individual's NRTI-SN risk.AIDS Res Hum Retroviruses. 2008 Feb;24(2):117-23. doi: 10.1089/aid.2007.0168.
12 Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.Mol Ther. 2018 Aug 1;26(8):1940-1952. doi: 10.1016/j.ymthe.2018.05.006. Epub 2018 May 28.
13 Pharmacogenetic variation influences sensory neuropathy occurrence in Southern Africans treated with stavudine-containing antiretroviral therapy.PLoS One. 2018 Oct 1;13(10):e0204111. doi: 10.1371/journal.pone.0204111. eCollection 2018.
14 Case report of adult-onset Allgrove syndrome.Neurol Sci. 2007 Dec;28(6):331-5. doi: 10.1007/s10072-007-0848-3. Epub 2008 Jan 4.
15 The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.Eur J Neurol. 2012 Jul;19(7):992-8. doi: 10.1111/j.1468-1331.2012.03665.x. Epub 2012 Feb 16.
16 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.J Cell Biol. 2005 Sep 26;170(7):1067-78. doi: 10.1083/jcb.200507087. Epub 2005 Sep 19.
17 Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.Eur J Paediatr Neurol. 2012 Jan;16(1):90-4. doi: 10.1016/j.ejpn.2011.10.005. Epub 2011 Nov 18.
18 KIF1A mutation in a patient with progressive neurodegeneration.J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25.
19 A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.Neurology. 1999 Apr 12;52(6):1271-5. doi: 10.1212/wnl.52.6.1271.
20 Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.Neuromuscul Disord. 2011 Aug;21(8):543-50. doi: 10.1016/j.nmd.2011.04.013. Epub 2011 Jul 7.
21 The expanding clinical spectrum of mitochondrial diseases.Brain Dev. 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p.
22 A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.J Biol Chem. 2010 Jul 23;285(30):22846-52. doi: 10.1074/jbc.M110.122259. Epub 2010 May 26.
23 A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.Neuromuscul Disord. 2018 Aug;28(8):652-659. doi: 10.1016/j.nmd.2018.05.008. Epub 2018 May 26.
24 Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.Cell Rep. 2018 May 15;23(7):2026-2038. doi: 10.1016/j.celrep.2018.04.071.
25 Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet. 2006 May;43(5):441-3. doi: 10.1136/jmg.2005.039230. Epub 2006 Jan 6.
26 A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.
27 Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.Neuropathology. 2018 Oct;38(5):463-467. doi: 10.1111/neup.12487. Epub 2018 Jul 16.
28 Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Hum Mol Genet. 2013 May 1;22(9):1755-70. doi: 10.1093/hmg/ddt022. Epub 2013 Jan 28.
29 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.
30 Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.Brain Dev. 2016 May;38(5):498-506. doi: 10.1016/j.braindev.2015.11.006. Epub 2015 Dec 10.