Details of Disease | DrugMAP

General Information of Disease (ID: DIS5N2R6)

Disease Name	Neurofibromatosis
Synonyms	neurofibromatosis type IV; neurofibromatosis type 2; neurofibromatosis type 4; neurofibromatosis; von Reklinghausen disease; central Neurofibromatosis; acoustic neurofibromatosis; Recklinghausen's neurofibromatosis; neurofibromatosis syndrome; type IV neurofibromatosis of riccardi; peripheral Neurofibromatosis
Definition	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISGXLG5: Hereditary neoplastic syndrome DISNC82H: Neurocutaneous syndrome DIS3HIWD: Autosomal dominant disease DIS5N2R6: Neurofibromatosis
Disease Identifiers	MONDO ID MONDO_0021061 MESH ID D017253 UMLS CUI C0162678 MedGen ID 58149 HPO ID HP:0001067 SNOMED CT ID 19133005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNTN2	TT2Z1WB	moderate	Biomarker	[1]
NF2	TTZIK7P	moderate	Biomarker	[2]
EED	TTFNJ4R	Strong	Biomarker	[3]
MDK	TTV8UE7	Strong	Biomarker	[4]
MLANA	TT362RB	Strong	Biomarker	[5]
PAK1	TTFN95D	Strong	Biomarker	[6]
SPRY1	TT0PSN6	Strong	Genetic Variation	[7]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CABIN1	OT4G5CIK	Limited	Autosomal dominant	[8]
ATAD5	OTI8ABKF	moderate	Biomarker	[9]
ESCO1	OTZ9P12A	moderate	Biomarker	[10]
EVI2B	OT98X1OE	moderate	Altered Expression	[11]
FOXG1	OTAW57J4	moderate	Biomarker	[12]
IMMT	OTBDSLE7	moderate	Biomarker	[13]
NFIA	OTDHQ9CG	moderate	Biomarker	[10]
NFIB	OTX94PD0	moderate	Biomarker	[10]
NFIX	OT1DPZAE	moderate	Biomarker	[10]
SDHC	OTC8G2MX	moderate	Biomarker	[14]
SERPINF2	OTZGAF8B	moderate	Biomarker	[15]
NFIC	OTLMCUIB	Strong	Biomarker	[10]
SNF8	OTRQA2AI	Strong	Genetic Variation	[16]
SUZ12	OT655XF8	Definitive	Biomarker	[17]
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⏷ Show the Full List of 14 DOT(s)

References

1	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.
2	NF2/Merlin suppresses proliferation and induces apoptosis in colorectal cancer cells.Front Biosci (Landmark Ed). 2020 Jan 1;25(3):513-525. doi: 10.2741/4817.
3	Polycomb repression regulates Schwann cell proliferation and axon regeneration after nerve injury.Glia. 2018 Nov;66(11):2487-2502. doi: 10.1002/glia.23500. Epub 2018 Oct 11.
4	Antiangiogenesis in neurofibromatosis 1.J Child Neurol. 2002 Aug;17(8):578-84; discussion 602-4, 646-51. doi: 10.1177/088307380201700807.
5	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.
6	A computational approach to explore and identify potential herbal inhibitors for the p21-activated kinase 1 (PAK1).J Biomol Struct Dyn. 2020 Aug;38(12):3514-3526. doi: 10.1080/07391102.2019.1659855. Epub 2019 Sep 5.
7	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.
8	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.
9	Elg1, a central player in genome stability.Mutat Res Rev Mutat Res. 2015 Jan-Mar;763:267-79. doi: 10.1016/j.mrrev.2014.11.007. Epub 2014 Nov 24.
10	Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.PLoS One. 2017 Jun 23;12(6):e0178639. doi: 10.1371/journal.pone.0178639. eCollection 2017.
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	An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6.
13	The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis.J Biol Chem. 2002 Oct 4;277(40):36909-12. doi: 10.1074/jbc.C200434200. Epub 2002 Aug 20.
14	Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.J Pediatr Endocrinol Metab. 2017 May 1;30(5):575-581. doi: 10.1515/jpem-2016-0375.
15	Precise localization of NF1 to 17q11.2 by balanced translocation.Am J Hum Genet. 1989 Jan;44(1):20-4.
16	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.
17	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.