Details of Disease

Disease Name

Demyelinating polyneuropathy

peripheral demyelinating neuropathy

Definition

Polyneuropathy that is characterized by demyelination of axons.

Disease Hierarchy

DISB9G3W: Polyneuropathy

:

DIS7IO4W: Demyelinating polyneuropathy

Disease Identifiers

MONDO ID

MONDO_0003334

UMLS CUI

C0270922

MedGen ID

82859

HPO ID

HP:0007108

SNOMED CT ID

23414001

General Information of Disease (ID: DIS7IO4W)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMN1	TT8QL6X	Limited	Genetic Variation	[1]
GJB1	TTSJIRP	Strong	Biomarker	[2]
MAG	TT9XFON	Strong	Biomarker	[3]
RNMT	TTG45HY	Definitive	Genetic Variation	[2]
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This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FIG4	OT501PY9	Limited	Biomarker	[4]
PXMP2	OTYHX5MI	Limited	Genetic Variation	[5]
SCARB2	OTN929M8	Limited	Biomarker	[6]
SOX10	OTF25ULQ	Limited	Genetic Variation	[7]
ABHD12	OTDP4F02	Strong	Biomarker	[8]
ATP6	OTPHOGLX	Strong	Genetic Variation	[9]
CNTNAP1	OT5Y03EU	Strong	Biomarker	[10]
CTDP1	OTHHFW17	Strong	Genetic Variation	[11]
EPGN	OT3EG75W	Strong	Biomarker	[12]
FBLN5	OTLVNZ8U	Strong	Genetic Variation	[13]
FGD4	OTYXJQCW	Strong	Genetic Variation	[14]
GDAP1	OTQE1O25	Strong	Genetic Variation	[15]
LITAF	OTT5JX1F	Strong	Genetic Variation	[16]
MPZ	OTAR2YXH	Strong	Genetic Variation	[17]
MPZL1	OTJSUUHR	Strong	Biomarker	[18]
MTMR2	OTNCYGBP	Strong	Genetic Variation	[19]
NFASC	OTBDUXZT	Strong	Genetic Variation	[20]
PLLP	OTFGCB9U	Strong	Biomarker	[21]
PLP1	OT8CM9CX	Strong	Genetic Variation	[22]
POLG	OTDUCT04	Strong	Genetic Variation	[23]
PRX	OT34Z10B	Strong	Biomarker	[24]
SBF2	OTBB8NO8	Strong	Biomarker	[25]
SH3TC2	OTJ6XY2A	Strong	Genetic Variation	[15]
SURF1	OTAINRSS	Strong	Genetic Variation	[26]
EGR2	OTAVQ78J	Definitive	Genetic Variation	[27]
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⏷ Show the Full List of 25 DOT(s)

References

1	Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.Neuromuscul Disord. 2016 Feb;26(2):132-5. doi: 10.1016/j.nmd.2015.12.003. Epub 2015 Dec 22.
2	Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease.Adv Exp Med Biol. 2019;1190:301-321. doi: 10.1007/978-981-32-9636-7_19.
3	Anti-MAG associated cerebellar ataxia and response to rituximab.J Neurol. 2018 Jan;265(1):115-118. doi: 10.1007/s00415-017-8675-9. Epub 2017 Nov 20.
4	Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.Ann Neurol. 2018 Apr;83(4):756-770. doi: 10.1002/ana.25198. Epub 2018 Mar 30.
5	Advances in the genetics of hereditary hypertrophic neuropathy in childhood.Brain Dev. 1995;17 Suppl:31-8.
6	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.
7	22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.Am J Med Genet A. 2017 Apr;173(4):1066-1070. doi: 10.1002/ajmg.a.38109.
8	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.
9	Peripheral neuropathy associated with mitochondrial disease in children.Dev Med Child Neurol. 2012 May;54(5):407-14. doi: 10.1111/j.1469-8749.2012.04271.x. Epub 2012 Mar 21.
10	Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.J Child Neurol. 2018 Sep;33(10):642-650. doi: 10.1177/0883073818776157. Epub 2018 Jun 8.
11	Genetic identity of Marinesco-Sjgren/myoglobinuria and CCFDN syndromes.Neurology. 2002 Jan 22;58(2):231-6. doi: 10.1212/wnl.58.2.231.
12	Increased activation of the epidermal growth factor receptor in transgenic mice overexpressing epigen causes peripheral neuropathy.Biochim Biophys Acta. 2013 Dec;1832(12):2068-76. doi: 10.1016/j.bbadis.2013.07.011. Epub 2013 Jul 27.
13	Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.Clin Neuropathol. 2017 Jul/Aug;36(4):171-177. doi: 10.5414/NP301011.
14	A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.J Neurol Sci. 2019 Jul 15;402:156-161. doi: 10.1016/j.jns.2019.05.015. Epub 2019 May 15.
15	Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.J Peripher Nerv Syst. 2019 Mar;24(1):125-130. doi: 10.1111/jns.12305. Epub 2019 Feb 6.
16	Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.Neuromuscul Disord. 2009 Oct;19(10):701-3. doi: 10.1016/j.nmd.2009.05.006. Epub 2009 Jun 21.
17	In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.Cell Biol Int. 2020 Feb;44(2):671-683. doi: 10.1002/cbin.11268. Epub 2019 Dec 4.
18	Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.Semin Pediatr Neurol. 2018 Jul;26:52-55. doi: 10.1016/j.spen.2017.03.005. Epub 2017 Apr 1.
19	An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.ASN Neuro. 2018 Jan-Dec;10:1759091418803282. doi: 10.1177/1759091418803282.
20	Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.
21	Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome.Mamm Genome. 2001 Dec;12(12):933-7. doi: 10.1007/s00335-001-3035-5.
22	Peripheral neuropathy caused by proteolipid protein gene mutations.Ann N Y Acad Sci. 1999 Sep 14;883:351-65.
23	Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).J Clin Neurosci. 2019 Mar;61:302-304. doi: 10.1016/j.jocn.2018.10.054. Epub 2018 Oct 29.
24	Direct Binding of the Flexible C-Terminal Segment of Periaxin to 4 Integrin Suggests a Molecular Basis for CMT4F.Front Mol Neurosci. 2019 Apr 9;12:84. doi: 10.3389/fnmol.2019.00084. eCollection 2019.
25	Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model.PeerJ. 2019 Nov 21;7:e7983. doi: 10.7717/peerj.7983. eCollection 2019.
26	Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.Mitochondrion. 2016 Mar;27:1-5. doi: 10.1016/j.mito.2015.12.009. Epub 2016 Jan 4.
27	A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.J Peripher Nerv Syst. 2019 Jun;24(2):219-223. doi: 10.1111/jns.12314. Epub 2019 Mar 28.