Details of Disease

Disease Name

Plexiform neurofibroma

plexiform neurofibroma (disease); plexiform neurofibroma

Definition

An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)

Disease Hierarchy

DISIJJMH: Neurofibroma

DISW4XX7: Plexiform neurofibroma

Disease Identifiers

MONDO ID

MONDO_0003304

MESH ID

D018318

UMLS CUI

C0206728

MedGen ID

64640

HPO ID

HP:0009732

SNOMED CT ID

403818001

General Information of Disease (ID: DISW4XX7)

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
Sunitinib	DMCBJSR	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 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AXL	TTZPY6J	Strong	Biomarker	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUZ12	OT655XF8	Limited	Genetic Variation	[3]
ATAD5	OTI8ABKF	Strong	Biomarker	[4]
CCN5	OTADU8JJ	Strong	Altered Expression	[5]
OMG	OTXA5C6L	Strong	Biomarker	[4]
SPRED1	OTKX7P8G	Strong	Genetic Variation	[6]
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References

1	Sunitinib FDA Label
2	Soluble AXL: a possible circulating biomarker for neurofibromatosis type 1 related tumor burden.PLoS One. 2014 Dec 31;9(12):e115916. doi: 10.1371/journal.pone.0115916. eCollection 2014.
3	Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.BMC Med Genet. 2012 Oct 26;13:98. doi: 10.1186/1471-2350-13-98.
4	Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.Mol Med. 2011 Jan-Feb;17(1-2):79-87. doi: 10.2119/molmed.2010.00079. Epub 2010 Sep 10.
5	Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.J Neuropathol Exp Neurol. 2010 Jan;69(1):60-9. doi: 10.1097/NEN.0b013e3181c79bff.
6	Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663.