Details of Disease

Disease Name

Polyneuropathy

polyneuropathy

Definition

A disease or disorder affecting more than one nerve.

Disease Hierarchy

DIS7KN5G: Peripheral neuropathy

DISB9G3W: Polyneuropathy

Disease Identifiers

MONDO ID

MONDO_0001824

MESH ID

D011115

UMLS CUI

C0152025

MedGen ID

57502

HPO ID

HP:0001271

SNOMED CT ID

42345000

General Information of Disease (ID: DISB9G3W)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Capsaicin	DMGMF6V	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAG	TT9XFON	Disputed	Biomarker	[2]
ATXN3	TT6A17J	Strong	Biomarker	[3]
CD59	TTBGTEJ	Strong	Genetic Variation	[4]
EPO	TTQG4NR	Strong	Therapeutic	[5]
GSN	TTUH7OM	Strong	Biomarker	[6]
HTR2C	TTWJBZ5	Strong	Genetic Variation	[7]
PDXK	TTXI3KF	Strong	Genetic Variation	[8]
PNKP	TTHR3IE	Strong	Biomarker	[9]
PNPLA6	TTWAQU2	Strong	Biomarker	[10]
PTPN13	TT405FP	Strong	Biomarker	[11]
TKT	TT04R7I	Strong	Genetic Variation	[12]
ARSA	TTYQANR	Definitive	Altered Expression	[13]
GJB1	TTSJIRP	Definitive	Biomarker	[14]
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⏷ Show the Full List of 13 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A19	DTT82QK	Strong	Genetic Variation	[15]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NMNAT2	DE2HB58	Limited	Biomarker	[16]
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This Disease Is Related to 40 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCLRE1B	OT2LFW7A	Disputed	Biomarker	[17]
MPZ	OTAR2YXH	Disputed	Genetic Variation	[18]
ABHD12	OTDP4F02	moderate	Biomarker	[19]
AIFM1	OTKPWB7Q	Strong	Genetic Variation	[20]
AMPH	OTWPGWZX	Strong	Biomarker	[21]
ATP13A2	OTKWBUGK	Strong	Genetic Variation	[22]
ATP6	OTPHOGLX	Strong	Genetic Variation	[23]
BSCL2	OT73V6Y4	Strong	Biomarker	[24]
CWC22	OT22MEO6	Strong	Altered Expression	[25]
DEGS1	OT4WXPKW	Strong	Genetic Variation	[26]
DNAJA3	OT61924T	Strong	Biomarker	[27]
DPYSL5	OT6F9T6F	Strong	Biomarker	[21]
DRP2	OTWR7WGU	Strong	Genetic Variation	[28]
FANCC	OTTIDM3P	Strong	Genetic Variation	[29]
GDAP1	OTQE1O25	Strong	Biomarker	[30]
HADHB	OT4Y1I62	Strong	Genetic Variation	[31]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[32]
JPH1	OTCAILYU	Strong	Genetic Variation	[33]
KARS1	OT0EU4SV	Strong	Genetic Variation	[34]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[35]
MPV17	OT579DMU	Strong	Genetic Variation	[36]
NAA50	OTFJ8S47	Strong	Genetic Variation	[37]
NEO1	OTGJ1997	Strong	Altered Expression	[38]
NRSN1	OT1KKXC8	Strong	Genetic Variation	[39]
NTNG2	OTTY88DL	Strong	Biomarker	[38]
PHEX	OTG7N3J7	Strong	Genetic Variation	[40]
PMP22	OTXWYWCZ	Strong	Biomarker	[4]
POLG	OTDUCT04	Strong	CausalMutation	[41]
PRPS1	OTN3A6CN	Strong	Biomarker	[42]
REEP1	OTEMVFX7	Strong	Genetic Variation	[43]
SACS	OTZGXQ8A	Strong	Biomarker	[44]
SBF1	OTW6I9RV	Strong	Biomarker	[45]
SCARB2	OTN929M8	Strong	Genetic Variation	[46]
SERPINA7	OTUYVTSU	Strong	Biomarker	[47]
SETX	OTG3JNOQ	Strong	Biomarker	[48]
SOX1	OTVI1RAR	Strong	Biomarker	[49]
SPG11	OTZ7LJX4	Strong	Biomarker	[50]
SURF1	OTAINRSS	Strong	Biomarker	[51]
KIF1B	OTI1XQTO	Definitive	Biomarker	[35]
SCP2	OTPAFCPQ	Definitive	Biomarker	[52]
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⏷ Show the Full List of 40 DOT(s)

References

1	Capsaicin FDA Label
2	Serum cytokine patterns in immunoglobulin m monoclonal gammopathy-associated polyneuropathy.Muscle Nerve. 2019 Jun;59(6):694-698. doi: 10.1002/mus.26462. Epub 2019 Mar 22.
3	SCA3 presenting as an isolated axonal polyneuropathy.Arch Neurol. 2011 May;68(5):653-5. doi: 10.1001/archneurol.2011.86.
4	Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.PLoS One. 2019 Feb 22;14(2):e0212647. doi: 10.1371/journal.pone.0212647. eCollection 2019.
5	Erythropoietin protects sensory axons against paclitaxel-induced distal degeneration. Neurobiol Dis. 2006 Dec;24(3):525-30. doi: 10.1016/j.nbd.2006.08.014. Epub 2006 Sep 28.
6	Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.Amyloid. 2012 Jun;19 Suppl 1:30-3. doi: 10.3109/13506129.2012.674076. Epub 2012 Apr 18.
7	A candidate gene study of serotonergic pathway genes and pain relief during treatment with escitalopram in patients with neuropathic pain shows significant association to serotonin receptor2C (HTR2C).Eur J Clin Pharmacol. 2011 Nov;67(11):1131-7. doi: 10.1007/s00228-011-1056-x. Epub 2011 May 26.
8	PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.
9	PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.Parkinsonism Relat Disord. 2019 Jul;64:342-345. doi: 10.1016/j.parkreldis.2019.03.012. Epub 2019 Apr 1.
10	Mechanisms for consideration for intervention in the development of organophosphorus-induced delayed neuropathy.Chem Biol Interact. 2012 Sep 30;199(3):177-84. doi: 10.1016/j.cbi.2012.07.002. Epub 2012 Jul 20.
11	Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.Neurology. 1996 Oct;47(4):988-92. doi: 10.1212/wnl.47.4.988.
12	Association of transketolase polymorphisms with measures of polyneuropathy in patients with recently diagnosed diabetes.Diabetes Metab Res Rev. 2017 May;33(4). doi: 10.1002/dmrr.2811. Epub 2016 May 15.
13	Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.Orphanet J Rare Dis. 2015 Nov 9;10:144. doi: 10.1186/s13023-015-0363-1.
14	Small fiber neuropathy in Charcot-Marie-Tooth disease.Acta Neurol Belg. 2009 Dec;109(4):294-7.
15	Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.Neuropediatrics. 2019 Oct;50(5):313-317. doi: 10.1055/s-0039-1693148. Epub 2019 Jul 11.
16	Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25.
17	Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.J Neurol. 2020 Mar;267(3):703-712. doi: 10.1007/s00415-019-09602-8. Epub 2019 Nov 14.
18	Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.J Neurol. 2010 Nov;257(11):1864-8. doi: 10.1007/s00415-010-5624-2. Epub 2010 Jun 18.
19	Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.J Neurol Sci. 2018 Apr 15;387:134-138. doi: 10.1016/j.jns.2018.02.021. Epub 2018 Feb 7.
20	A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.Eur J Neurol. 2017 Dec;24(12):1499-1506. doi: 10.1111/ene.13452. Epub 2017 Oct 7.
21	Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome.Neurology. 2019 Nov 12;93(20):e1873-e1880. doi: 10.1212/WNL.0000000000008472. Epub 2019 Oct 17.
22	Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.Folia Neuropathol. 2019;57(3):285-294. doi: 10.5114/fn.2019.88459.
23	Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.J Med Genet. 2007 Dec;44(12):797-9. doi: 10.1136/jmg.2007.052902.
24	A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):319-326. doi: 10.4274/jcrpe.galenos.2018.2018.0227. Epub 2018 Dec 19.
25	Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22.Dis Model Mech. 2017 Mar 1;10(3):215-224. doi: 10.1242/dmm.028225.
26	Adult-onset MLD: a gene mutation with isolated polyneuropathy.Neurology. 2000 Oct 10;55(7):1036-9. doi: 10.1212/wnl.55.7.1036.
27	A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.Eur J Hum Genet. 2019 Jul;27(7):1072-1080. doi: 10.1038/s41431-019-0358-9. Epub 2019 Feb 15.
28	Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy.Iran J Basic Med Sci. 2019 May;22(5):576-580. doi: 10.22038/ijbms.2019.30754.7414.
29	Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis.Lab Invest. 2001 Mar;81(3):385-96. doi: 10.1038/labinvest.3780246.
30	Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.
31	Mutations in HADHB, which encodes the -subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24.
32	Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22.
33	Inherited mitochondrial neuropathies.J Neurol Sci. 2011 May 15;304(1-2):9-16. doi: 10.1016/j.jns.2011.02.012. Epub 2011 Mar 13.
34	Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.Clin Genet. 2017 Jun;91(6):918-923. doi: 10.1111/cge.12931. Epub 2017 Mar 17.
35	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.
36	Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.Mol Genet Metab. 2008 Jun;94(2):234-9. doi: 10.1016/j.ymgme.2008.01.012. Epub 2008 Mar 10.
37	Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.
38	Reduced gene expression of netrin family members in skin and sural nerve specimens of patients with painful peripheral neuropathies.J Neurol. 2019 Nov;266(11):2812-2820. doi: 10.1007/s00415-019-09496-6. Epub 2019 Aug 7.
39	Multiple drug combinations of bortezomib, lenalidomide, and thalidomide for first-line treatment in adults with transplant-ineligible multiple myeloma: a network meta-analysis.Cochrane Database Syst Rev. 2019 Nov 25;2019(11):CD013487. doi: 10.1002/14651858.CD013487.
40	Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.Mol Genet Genomic Med. 2020 Jan;8(1):10.1002/mgg3.1042. doi: 10.1002/mgg3.1042. Epub 2019 Nov 13.
41	The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar.
42	New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.Mol Genet Genomic Med. 2019 Sep;7(9):e875. doi: 10.1002/mgg3.875. Epub 2019 Jul 23.
43	Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.J Neurol. 2019 Mar;266(3):735-744. doi: 10.1007/s00415-019-09196-1. Epub 2019 Jan 12.
44	A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7.
45	Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.Clin Genet. 2018 Nov;94(5):473-479. doi: 10.1111/cge.13419. Epub 2018 Aug 9.
46	Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.
47	An outline of inherited disorders of the thyroid hormone generating system.Thyroid. 2003 Aug;13(8):771-801. doi: 10.1089/105072503768499671.
48	Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.J Neurol Sci. 2009 Mar 15;278(1-2):77-81. doi: 10.1016/j.jns.2008.12.004. Epub 2009 Jan 11.
49	Caveats and Pitfalls of SOX1 Autoantibody Testing With a Commercial Line Blot Assay in Paraneoplastic Neurological Investigations.Front Immunol. 2019 Apr 12;10:769. doi: 10.3389/fimmu.2019.00769. eCollection 2019.
50	Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.
51	SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11.
52	Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet. 2006 Jun;78(6):1046-52. doi: 10.1086/503921. Epub 2006 Mar 29.