MCID: NRF007
MIFTS: 60

Neurofibroma malady

Neuronal diseases, Cancer diseases categories

Summaries for Neurofibroma

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. some people who develop neurofibromas have a genetic condition known as neurofibromatosis (nf). there are different types of nf, but type 1 is the most common. last updated: 6/6/2012

MalaCards: Neurofibroma is related to plexiform neurofibroma and neurofibromatosis. An important gene associated with Neurofibroma is NF1 (neurofibromin 1), and among its related pathways are Glioblastoma Multiforme and Axonal growth inhibition (RHOA activation). The compounds estrogen and s 100 have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and salivary gland, and related mouse phenotypes are limbs/digits/tail and integument.

Wikipedia:63 A neurofibroma is a benign nerve sheath tumor in the peripheral nervous system. Usually found in... more...

Aliases & Classifications for Neurofibroma

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

neurofibroma 8 42 10 44 48 60


External Ids:

Disease Ontology8 DOID:962
NCIt39 C3272
MeSH34 D009455
SNOMED-CT via Orphanet57 404029005

Related Diseases for Neurofibroma

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17GeneCards, 18GeneDecks
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Diseases related to Neurofibroma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 231)
idRelated DiseaseScoreTop Affiliating Genes
1plexiform neurofibroma31.5PDGFRA, NF1, MMP13, TP73
2neurofibromatosis31.2S100B, PDGFRA, NF2, NF1, NGFR, MMP13
3malignant peripheral nerve sheath tumor30.7ACTC1, MMP13, CD34, NGFR, NF1, NF2
4melanoma30.5S100B, S100A1, SOX10, TP73, ACTC1, KITLG
5perineurioma30.3S100B, CD34
6neurilemmoma30.1CD34, NF1, NF2
7neurofibrosarcoma30.1TP73, NF1, NF2
8ganglioneuroma30.1S100B, SYP, NGFR
9meningioma30.1S100B, S100A1, PDPN, SYP, NF2, NF1
10adenocarcinoma30.0PDPN, SYP, NF2, NGFR, GLI1, CD34
11neuropathy29.9SOX10, MAG
12basal cell carcinoma29.9GLI1, CD34, MMP13, ACTC1
13pheochromocytoma29.9SYP, NF1, NGFR
14lipoma29.9S100A1, CD34
15pancreatitis29.7KITLG
16neuroblastoma29.7SYP, NGFR
17glomus tumor29.7ACTC1, SYP, S100A1
18acoustic neuroma29.7NGFR, NF1, NF2
19granular cell tumor29.7S100B, S100A1, SYP
20tuberous sclerosis29.7S100B, SYP, NF1
21chordoma29.7PDGFRA, S100A1, S100B
22ganglioglioma29.7S100B, APOD, SYP
23angiosarcoma29.7ACTC1, CD34, PDPN, PDGFRA
24microphthalmia29.7ACTC1, S100B
25hemangiopericytoma29.7S100B, S100A1, NGFR, CD34, ACTC1
26leiomyoma29.7ACTC1, CD34, PDGFRA, S100A1, S100B
27gastrointestinal stromal tumor29.7ACTC1, KITLG, CD34, NF1, NF2, PDGFRA
28astrocytoma29.7S100B, PDGFRA, APOD, SYP, NF2, NF1
29papillary carcinoma29.7ACTC1, SYP, S100A1
30sarcoma29.7S100B, S100A1, PDGFRA, NF2, NF1, GLI1
31breast cancer29.7PDPN, APOD, NF2, NF1, NGFR, GLI1
32squamous cell carcinoma29.7S100A1, PDGFRA, PDPN, APOD, SYP, NF1
33cervicitis10.4
34cellular neurofibroma10.3
35neurofibroma of the esophagus10.3
36atypical neurofibroma10.3
37laryngitis10.3
38mediastinitis10.2
39painful orbital and systemic neurofibromas-marfanoid habitus syndrome10.2
40obstructive jaundice10.2
41neurofibroma of gallbladder10.1
42neurofibroma of the heart10.1
43mediastinum neurofibroma10.1
44neuroma10.1
45peripheral nerve schwannoma10.1
46thyroiditis10.1
47epithelioid neurofibroma10.1
48plexiform schwannoma10.1
49meningocele10.1
50bladder disease10.1

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to neurofibroma

Clinical Features for Neurofibroma

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Drugs & Therapeutics for Neurofibroma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Neurofibroma

Drug clinical trials:

Search ClinicalTrials for Neurofibroma

Search NIH Clinical Center for Neurofibroma

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Genetic Tests for Neurofibroma

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Anatomical Context for Neurofibroma

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32MalaCards
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MalaCards organs/tissues related to Neurofibroma:

32
Bone, Skin, Salivary gland, Thyroid, Tongue, Colon, Kidney, Spinal cord, Breast, Tonsil, Liver, Cervix, Dorsal root ganglion, Endothelial, Trigeminal ganglion, Trachea, Testes, Testis, Prostate, Eye, Pancreas, Heart, Brain, Lymph node, Appendix

Animal Models for Neurofibroma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neurofibroma:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.7GLI1, CNTN2, SOX10
2MP:001077110.5S100B, SOX10, PDGFRA, CD34, MMP13, KITLG
3MP:000200610.5PDGFRA, NF2, NF1, CD34, KITLG, TP73
4MP:000537710.4APOD, NF2, NF1, NGFR, KITLG, TP73
5MP:000538810.4PDGFRA, PDPN, NF2, NF1, CNP, NGFR
6MP:000538110.3SOX10, PDGFRA, PDPN, CNP, NGFR, GLI1
7MP:000287310.3S100B, S100A1, SOX10, PDGFRA, SYP, NF1
8MP:000537910.3SOX10, PDGFRA, NF2, NF1, CNP, GLI1
9MP:000539010.3PDGFRA, PDPN, NF2, NF1, CNP, MMP13
10MP:000536910.2PDGFRA, NF1, CNP, NGFR, ACTC1
11MP:000537810.2NF1, NF2, PDPN, PDGFRA, SOX10, CNP
12MP:000537610.2NF1, NF2, APOD, PDPN, PDGFRA, CNP
13MP:000363110.2NF2, SYP, APOD, PDGFRA, SOX10, NF1
14MP:000538010.2PDGFRA, NF2, NF1, GLI1, KITLG, TP73
15MP:000538510.2S100A1, PDGFRA, PDPN, NF1, NGFR, MMP13
16MP:000538610.1TP73, S100B, S100A1, SOX10, PDGFRA, PDPN
17MP:001076810.1SOX10, PDGFRA, PDPN, APOD, NF2, NF1
18MP:000538410.1SOX10, PDGFRA, NF1, NGFR, GLI1, CD34
19MP:00053879.9PDGFRA, PDPN, NF2, NF1, CNP, NGFR
20MP:00053829.9PDGFRA, NF2, NF1, NGFR, KITLG, TP73

Publications for Neurofibroma

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50PubMed
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Articles related to Neurofibroma:

(show top 50)    (show all 707)
idTitleAuthorsYear
1
Diffuse neurofibroma - an uncommon cause of alopecia. (24346909)
2013
2
Glottic neurofibroma in an elderly patient: a case report. (23602087)
2013
3
Plexiform neurofibroma in the submandibular gland along with small diffuse neurofibroma in the floor of the mouth but without neurofibromatosis-1: a rare case report. (23653673)
2013
4
Radiologic case study. Neurofibroma causing tarsal tunnel syndrome. (23379616)
2013
5
Solitary plexiform neurofibroma of the gingiva: unique presentation in the oral cavity. (24179954)
2013
6
Neurofibromas of the bladder in a child with neurofibromatosis type 1 causing chronic renal disease. (23815393)
2013
7
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
8
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
9
Spinal Neurofibroma Masquerading as a Herniated Disc: A case report. (23275853)
2012
10
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study. (22943186)
2012
11
Oral and maxillofacial pathology case of the month. Neurofibroma. (21928742)
2011
12
Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. (21838856)
2011
13
Solitary myxoid neurofibroma of the soft palate. (21959460)
2011
14
Peripheral nerve involvement in a neurofibromatosis type 2 patient with plexiform neurofibroma of the cauda equina: a sonographic vignette. (21878222)
2011
15
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. (22034633)
2011
16
Neurofibroma of kidney: an uncommon neoplasm and diagnostic dilemma with solitary fibrous tumor. (21119287)
2010
17
Gallbladder neurofibroma presenting as chronic epigastric pain - Case report and review of the literature. (22558554)
2010
18
Successful excision of a rare cervical neurofibroma arising from the phrenic nerve: a case report. (19468678)
2010
19
Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. (19469864)
2010
20
Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. (20592374)
2010
21
Floret-like multinucleated giant cells in a neurofibroma outside the context of neurofibromatosis type 1. (19701070)
2009
22
Neurofibroma with clear cell change. (19542919)
2009
23
Unusual localization of a plexiform neurofibroma in a child with neurofibromatosis 1. (18954424)
2008
24
Myxoid neurofibroma: an unusual presentation. (19967019)
2008
25
Imaging appearance of diffuse neurofibroma. (18287425)
2008
26
Gingival neurofibroma in a neurofibromatosis type 1 patient. (17664914)
2007
27
Unusual association of adrenal pheochromocytoma and para-aortic neurofibroma in pregnancy. (17033264)
2006
28
Plexiform neurofibroma of the tongue: a case report of a child. (16848118)
2006
29
Anesthetic management of a patient with tracheal neurofibroma. (15950855)
2005
30
Early atypical malignant transformation of a plexiform neurofibroma in a 4-year-old boy with Neurofibromatosis 1. (15889394)
2005
31
Poliosis circumscripta associated with neurofibroma. (16043917)
2005
32
Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibroma. (15986446)
2005
33
Mediastinal neurofibroma originating from the left intrathoracic phrenic nerve: report of a case. (15526131)
2004
34
Best cases from the AFIP: plexiform neurofibroma of the bladder. (15486243)
2004
35
Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1. (12525736)
2003
36
Solitary juxtacortical neurofibroma of the humerus. (11828334)
2002
37
Solitary neurofibroma of the oral mucosa: a previously undescribed variant of neurofibroma. (12058872)
2002
38
Plexiform neurofibroma with intraspinal extension. (12375765)
2002
39
A solitary neurofibroma of the palatine tonsil. (12537622)
2002
40
CO2-laser in the removal of a plexiform neurofibroma from the eyelid. (11011715)
2000
41
Bronchiectasis and mediastinal neurofibroma in a Saudi female with Ehlers-Danlos syndrome. (17264637)
2000
42
Image interpretation session: 1998. Plexiform neurofibroma of the genitourinary tract in the setting of neurofibromatosis type 1. (10722362)
1999
43
MR of hepatic plexiform neurofibroma. (9630286)
1998
44
Plexiform leiomyoma of the esophagus: a peculiar gross variant simulating plexiform neurofibroma. (8808436)
1996
45
A novel glial growth inhibitory factor, gliostatin, derived from neurofibroma. (1613506)
1992
46
Plexiform neurofibroma: report of an unusual presentation. (2183914)
1990
47
Solitary plexiform neurofibroma. (2529151)
1989
48
Plexiform (multinodular) schwannoma. A tumor simulating the plexiform neurofibroma. (6638259)
1983
49
The vascular features of plexiform neurofibroma with some observations on the importance of pre-operative angiography and the value of pre-operative intra-arterial embolisation. (6414564)
1983
50
Plexiform neurofibroma of the head and neck. (484781)
1979

Genetic Variations for Neurofibroma

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Expression for genes affiliated with Neurofibroma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurofibroma

Search GEO for disease gene expression data for Neurofibroma.

Pathways for genes affiliated with Neurofibroma

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51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Neurofibroma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4NF1, NF2, PDGFRA
2
Hide members
10.4NGFR, MAG
310.3MAG, CNP
410.2NGFR, CNP, MAG, NF2, SYP, S100B

Compounds for genes affiliated with Neurofibroma

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Neurofibroma according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8NF1, CNTN2
2s 1004410.7ACTC1, SYP, S100B
3reticulin4410.7SYP, ACTC1, S100B, CD34
42,3-cyclic nucleotide4410.7CNP, S100B, MAG
5mucicarmine4410.7ACTC1, S100A1, S100B, SYP
6orcein4410.7ACTC1, S100B
7dexamethasone44 49 28 1113.7S100B, KITLG, MMP13
8steroid4410.7NF1, CNTN2, NGFR, ACTC1, SYP
9agarose4410.7APOD, S100B, KITLG, MMP13
10imatinib44 49 1112.7ACTC1, KITLG, S100B, TP73, PDGFRA
11choline44 11 2412.7CNTN2, NGFR, SYP, S100B
12b 7234410.6ACTC1, SYP, PDPN, S100A1, S100B
13bromodeoxyuridine4410.6CNTN2, KITLG, CNP, S100B
14hydroxyapatite4410.6MMP13, KITLG, S100B
15phosphoserine44 2411.6CNP, CNTN2, MAG
16agar4410.6CD34, NGFR, CNTN2, KITLG, NF2
17forskolin44 49 1112.6S100B, NF1, CNTN2, CNP, NGFR, SYP
18retinoid4410.6CNTN2, NGFR, MMP13, APOD
19acetylcholine44 49 28 11 2414.6NGFR, S100B, S100A1, SYP, MAG
20dbc-amp4410.6SYP, NGFR, S100B
21cyclic amp44 2411.6CNTN2, S100B, SYP, NF1, MAG, NGFR
22creatinine4410.6APOD, SYP, KITLG, ACTC1
23oligonucleotide4410.6TP73, MMP13, NGFR, NF1, APOD, PDGFRA
24ganglioside4410.6MAG, SYP, NGFR
25phosphatidylinositol4410.6PDGFRA, NF1, NGFR, GLI1, MMP13, KITLG
26hematoxylin4410.5S100A1, S100B, PDPN, NGFR, ACTC1, SYP
27zinc44 2411.5GLI1, S100A1, S100B, TP73, NGFR, MMP13
284-hydroperoxycyclophosphamide4410.5CD34, KITLG
29phosphotyrosine4410.5PDGFRA, SYP, MAG, NGFR
30threonine4410.5S100B, MAG, NGFR, NF2, TP73, CNTN2
31nitric oxide44 11 2412.5SYP, NGFR, S100B, MMP13, KITLG, S100A1
32thymidine44 2411.5NGFR, S100B, PDGFRA, MAG, CNTN2, CD34
3312-o-tetradecanoylphorbol 13-acetate4410.5CNTN2, NGFR, MMP13, CD34
34cysteine4410.5NF1, MAG, S100A1, S100B, MMP13, NGFR
35tetracycline44 1111.5MMP13, TP73, CNTN2
36silver4410.5CD34, SYP, S100A1
37lipid4410.4NGFR, S100B, KITLG, APOD, SYP, NF1
38serine4410.4NF1, KITLG, MMP13, NGFR, CNTN2, MAG
39progesterone44 59 28 11 2414.4NF2, NGFR, CD34, ACTC1, TP73, SYP
40oxygen44 2411.4KITLG, S100B, MMP13, ACTC1, CNTN2, NGFR
41vegf4410.4KITLG, ACTC1, TP73, S100B, PDGFRA, PDPN
42olopatadine44 1111.4S100B, S100A1
43calcium44 49 11 2413.4SYP, S100B, S100A1, PDGFRA, KITLG, NF1
44glucose4410.3ACTC1, KITLG, NGFR, GLI1
45retinoic acid44 2411.3CNTN2, NGFR, KITLG, MMP13, CD34, ACTC1
46paraffin4410.3S100A1, TP73, ACTC1, KITLG, MMP13, CD34
47testosterone44 59 11 2413.2KITLG, SYP, APOD, S100B, ACTC1
48tyrosine4410.2CNTN2, TP73, ACTC1, KITLG, S100B, S100A1
49ethanol44 49 11 2413.2KITLG, NGFR, S100B, SYP
502-methoxyethanol4410.1S100A1, ACTC1

GO Terms for genes affiliated with Neurofibroma

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16Gene Ontology
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Cellular components related to Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1filopodium membraneGO:03152710.3PDPN, NF2
2perinuclear region of cytoplasmGO:04847110.2CD34, CNP, NF2, APOD, S100B
3integral to plasma membraneGO:00588710.2PDPN, CNTN2, NGFR, CD34, SEMA4F, PDGFRA
4plasma membraneGO:0058869.6PDGFRA, PDPN, NF2, MAG, CNTN2, CNP

Biological processes related to Neurofibroma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1digestive tract morphogenesisGO:04854610.6TP73, GLI1, SOX10
2positive regulation of DNA replicationGO:04574010.5PDGFRA, GLI1, KITLG
3lung developmentGO:03032410.5GLI1, PDPN, PDGFRA
4negative regulation of cell-matrix adhesionGO:00195310.5NF1, NF2
5positive regulation of apoptotic processGO:04306510.4S100B, NF1, NGFR, TP73
6regulation of neuronal synaptic plasticityGO:04816810.4CNTN2, S100B
7cardiac myofibril assemblyGO:05500310.4ACTC1, PDGFRA
8neurotrophin TRK receptor signaling pathwayGO:04801110.2PDGFRA, MAG, NGFR, KITLG
9negative regulation of MAPK cascadeGO:04340910.1NF1, NF2

Molecular functions related to Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:04454810.4S100A1, S100B
2identical protein bindingGO:0428029.9TP73, CNTN2, SYP, SOX10, S100A1, S100B

Products for genes affiliated with Neurofibroma

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Sources for Neurofibroma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet