Details of Disease | DrugMAP

General Information of Disease (ID: DISIJJMH)

Disease Name	Neurofibroma
Synonyms	NFIB; neurofibroma, benign; neurofibroma (WHO grade I); neurofibroma
Definition	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.
Disease Hierarchy	DISDZT8F: Benign peripheral nerve sheath tumor DISJYLBY: Nerve sheath neoplasm DISIJJMH: Neurofibroma
Disease Identifiers	MONDO ID MONDO_0016755 UMLS CUI C0027830 MedGen ID 45058 Orphanet ID 252183 SNOMED CT ID 1156930004

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
NRG1	TTEH395	Disputed	Biomarker	[1]
CNTN2	TT2Z1WB	moderate	Altered Expression	[2]
CNP	TT71P0H	Strong	Altered Expression	[3]
DUSP5	TTZN92A	Strong	Altered Expression	[4]
EED	TTFNJ4R	Strong	Altered Expression	[5]
MDK	TTV8UE7	Strong	Biomarker	[6]
MLANA	TT362RB	Strong	Biomarker	[7]
NF2	TTZIK7P	Strong	Genetic Variation	[8]
SPRY1	TT0PSN6	Strong	Genetic Variation	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUZ12	OT655XF8	Limited	Genetic Variation	[10]
EVI2B	OT98X1OE	moderate	Altered Expression	[11]
THSD7A	OT7249HH	moderate	Biomarker	[12]
ADAP2	OTGQ8UH7	Strong	Biomarker	[13]
ARID1B	OTILK3Q7	Strong	Biomarker	[14]
EFNA3	OTJGOUMZ	Strong	Altered Expression	[15]
KANK1	OT2E7A6W	Strong	Biomarker	[16]
SNF8	OTRQA2AI	Strong	Genetic Variation	[17]
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⏷ Show the Full List of 8 DOT(s)

References

1	Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis.Acta Neuropathol. 2014 Apr;127(4):573-91. doi: 10.1007/s00401-013-1209-3.
2	Repression of the NF1 gene by Tax may expain the development of neurofibromas in human T-lymphotropic virus type 1 transgenic mice.J Virol. 1996 May;70(5):3280-5. doi: 10.1128/JVI.70.5.3280-3285.1996.
3	EGFR-Stat3 signalling in nerve glial cells modifies neurofibroma initiation.Oncogene. 2017 Mar 23;36(12):1669-1677. doi: 10.1038/onc.2016.386. Epub 2016 Oct 17.
4	Targeted Inhibition of the Dual Specificity Phosphatases DUSP1 and DUSP6 Suppress MPNST Growth via JNK.Clin Cancer Res. 2019 Jul 1;25(13):4117-4127. doi: 10.1158/1078-0432.CCR-18-3224. Epub 2019 Apr 1.
5	Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival.Mod Pathol. 2016 Jun;29(6):582-90. doi: 10.1038/modpathol.2016.45. Epub 2016 Mar 18.
6	Antiangiogenesis in neurofibromatosis 1.J Child Neurol. 2002 Aug;17(8):578-84; discussion 602-4, 646-51. doi: 10.1177/088307380201700807.
7	Spectrum of Melanocytic Proliferation/Differentiation in a Large Series of Cutaneous Neurofibromas: An Under-Recognized Histopathologic Phenomenon and Potential Clue for Neurofibromatosis Type 1.Am J Dermatopathol. 2020 Mar;42(3):165-172. doi: 10.1097/DAD.0000000000001512.
8	Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.Ophthalmic Genet. 2008 Sep;29(3):133-8. doi: 10.1080/13816810802206507.
9	SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.
10	Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.Nat Genet. 2014 Nov;46(11):1170-2. doi: 10.1038/ng.3116. Epub 2014 Oct 12.
11	EVI2B, a gene lying in an intron of the neurofibromatosis type 1 (NF1) gene, is as the NF1 gene involved in differentiation of melanocytes and keratinocytes and is overexpressed in cells derived from NF1 neurofibromas.DNA Cell Biol. 1999 May;18(5):345-56. doi: 10.1089/104454999315240.
12	THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1.Eur J Med Genet. 2018 Feb;61(2):84-88. doi: 10.1016/j.ejmg.2017.10.014. Epub 2017 Oct 25.
13	Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.Neurogenetics. 2009 Feb;10(1):79-85. doi: 10.1007/s10048-008-0154-0. Epub 2008 Oct 11.
14	Insertional Mutagenesis Identifies a STAT3/Arid1b/-catenin Pathway Driving Neurofibroma Initiation.Cell Rep. 2016 Mar 1;14(8):1979-90. doi: 10.1016/j.celrep.2016.01.074. Epub 2016 Feb 18.
15	MicroRNA-210 promotes proliferation and invasion of peripheral nerve sheath tumor cells targeting EFNA3.Oncol Res. 2013;21(3):145-54. doi: 10.3727/096504013X13841340689573.
16	KANK1 inhibits cell growth by inducing apoptosis through regulating CXXC5 in human malignant peripheral nerve sheath tumors.Sci Rep. 2017 Jan 9;7:40325. doi: 10.1038/srep40325.
17	The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.Clin Genet. 2015 May;87(5):401-10. doi: 10.1111/cge.12498. Epub 2014 Nov 22.