MCID: NRF007
MIFTS: 49

Neurofibroma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Neurofibroma

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NIH Rare Diseases:41 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 based summary: Neurofibroma is related to malignant peripheral nerve sheath tumor and neurofibromatosis. An important gene associated with Neurofibroma is NF1 (neurofibromin 1), and among its related pathways are ATF-2 transcription factor network and Glioblastoma Multiforme. The compounds ccl4 and hydroxyapatite have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and tongue, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 61UMLS via Orphanet
See all sources

Neurofibroma, Aliases & Descriptions:

Name: Neurofibroma 9 41 11 43 47 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:962
MeSH33 D009455
NCIt38 C3272
Orphanet47 252183
UMLS via Orphanet61 C0027830

Related Diseases for Neurofibroma

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Diseases related to Neurofibroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 182)
idRelated DiseaseScoreTop Affiliating Genes
1malignant peripheral nerve sheath tumor31.6NF1
2neurofibromatosis31.6NF1, NF2, PDGFRA
3plexiform neurofibroma31.5TP73, MMP13, PDGFRA, NF1
4perineurioma31.2S100B
5neurofibromatosis, type 230.8NF1, NF2
6neurilemmoma30.7NF1, NF2
7neurofibrosarcoma30.4NF1, NF2, TP73
8acoustic neuroma30.3NF1, NF2
9tuberous sclerosis30.2NF1, S100B
10chordoma30.2S100B, PDGFRA
11ganglioglioma30.1S100B, APOD
12gastrointestinal stromal tumor30.0PDGFRA, S100B, NF2, NF1
13leiomyoma30.0PDGFRA, S100B
14basal cell carcinoma29.7GLI1, MMP13
15breast cancer29.7APOD, TP73, MMP13, NF2
16adenocarcinoma29.7TP73, MMP13, NF2, GLI1
17ependymoma29.5TP73, PDGFRA, S100B, NF2, NF1
18sarcoma29.3PDGFRA, S100B, NF2, NF1, GLI1
19melanoma29.1TP73, SOX10, MMP13, PDGFRA, S100B, NF2
20astrocytoma29.1APOD, TP73, PDGFRA, S100B, NF2, NF1
21neurofibromatosis, type 110.8
22rosai-dorfman disease10.5S100B
23cervicitis10.5
24chondroma10.4PDGFRA
25cellular neurofibroma10.4
26neurofibroma of the esophagus10.3
27laryngitis10.3
28nervous system cancer10.3NF1, NF2
29atypical neurofibroma10.3
30mediastinitis10.3
31fibrous meningioma10.3S100B, NF2
32anaplastic ependymoma10.3NF2, S100B
33papilloma10.3TP73
34paraganglioma10.3NF1, S100B
35multiple endocrine neoplasia10.3NF2, NF1
36painful orbital and systemic neurofibromas-marfanoid habitus syndrome10.3
37leukemia, juvenile myelomonocytic10.3NF1, PDGFRA
38chronic myelomonocytic leukemia10.3NF1, PDGFRA
39neurofibroma of the heart10.3
40ganglioneuroma10.3
41leiomyosarcoma10.2PDGFRA, S100B
42neurofibroma of gallbladder10.2
43obstructive jaundice10.2
44mediastinum neurofibroma10.2
45sarcoma, synovial10.2MMP13, S100B, NF1
46neuroendocrine tumor10.2NF1, PDGFRA
47epithelioid neurofibroma10.2
48neurofibroma of spinal cord10.2
49neuroma10.2
50thyroiditis10.2

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to neurofibroma

Symptoms for Neurofibroma

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Drugs & Therapeutics for Neurofibroma

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Drug clinical trials:

Search ClinicalTrials for Neurofibroma

Search NIH Clinical Center for Neurofibroma

Genetic Tests for Neurofibroma

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Anatomical Context for Neurofibroma

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MalaCards organs/tissues related to Neurofibroma:

31
Bone, Skin, Tongue, Thyroid, Salivary gland, Breast, Colon, Kidney, Spinal cord, Liver, Cervix, Tonsil, Eye, Lymph node, Brain, Heart, Pancreas, Adrenal gland, Uterus, Prostate, Testis, Testes, Endothelial, Dorsal root ganglion, Trigeminal ganglion, Trachea, Appendix

Animal Models for Neurofibroma or affiliated genes

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MGI Mouse Phenotypes related to Neurofibroma:

35 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9SOX10, PDGFRA, NF1
2MP:00053778.8APOD, TP73, NF2, NF1
3MP:00053908.5TP73, MMP13, PDGFRA, NF2, NF1
4MP:00053828.5TP73, SOX10, PDGFRA, NF2, NF1
5MP:00053678.4GLI1, NF1, NF2, PDGFRA
6MP:00107718.3SOX10, MMP13, PDGFRA, S100B, NF2, NF1
7MP:00053718.2SOX10, MMP13, PDGFRA, NF1, GLI1
8MP:00053818.2GLI1, PDGFRA, SOX10, TP73
9MP:00053858.1APOD, TP73, MMP13, PDGFRA, NF1
10MP:00028738.1GLI1, NF1, S100B, PDGFRA, SOX10
11MP:00020067.8TP73, SOX10, PDGFRA, NF2, NF1, GLI1
12MP:00053887.8TP73, SOX10, PDGFRA, NF2, NF1, GLI1
13MP:00053797.8TP73, SOX10, PDGFRA, NF2, NF1, GLI1
14MP:00053807.8TP73, SOX10, PDGFRA, NF2, NF1, GLI1
15MP:00053847.6TP73, SOX10, MMP13, PDGFRA, NF1, GLI1
16MP:00053767.5APOD, TP73, SOX10, MMP13, PDGFRA, NF2
17MP:00053787.3TP73, SOX10, MMP13, PDGFRA, NF2, NF1
18MP:00036317.1APOD, TP73, SOX10, PDGFRA, NF2, NF1
19MP:00107687.0APOD, TP73, SOX10, PDGFRA, NF2, NF1
20MP:00053866.8GLI1, APOD, TP73, SOX10, PDGFRA, S100B

Publications for Neurofibroma

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Articles related to Neurofibroma:

(show top 50)    (show all 754)
idTitleAuthorsYear
1
Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report. (25738048)
2015
2
Solitary plexiform neurofibroma of the stomach: a case report. (24803834)
2014
3
Coexistence of neurofibroma and meningioma at exactly the same level of the cervical spine. (25128077)
2014
4
Solitary giant neurofibroma of thigh. (25221761)
2014
5
Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. (25186217)
2014
6
Solitary parotid plexiform neurofibroma - diagnostic difficulty in a clinically unsuspected case. (25494144)
2014
7
Isolated diffuse episcleral neurofibroma. (23514030)
2013
8
Diffuse neurofibroma - an uncommon cause of alopecia. (24346909)
2013
9
Re: 'Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: An uncommon cause of severe urological disease in an infant' J Pediatr Urol 2013 Feb 4 [Epub ahead of print]. (23973761)
2013
10
Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. (23744851)
2013
11
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
12
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
13
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
14
Vascular wall cells contribute to tumourigenesis in cutaneous neurofibromas of patients with neurofibromatosis type 1. A comparative histological, ultrastructural and immunohistochemical study. (22593502)
2012
15
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)
2012
16
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
17
Oral and maxillofacial pathology case of the month. Neurofibroma. (21928742)
2011
18
Pacinian neurofibroma: a rare neurogenic tumor. (21393958)
2011
19
Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)
2010
20
Could an osteoinductor result in degeneration of a neurofibroma in NF1? (20449613)
2010
21
A case of large sporadic neurofibroma of the hand. (20061199)
2010
22
Giant plexiform neurofibroma in neurofibromatosis type 1. (20212235)
2010
23
Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy. (21171515)
2010
24
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
25
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
26
Neurofibroma development in NF1--insights into tumour initiation. (19615906)
2009
27
Solitary neurofibroma of the palate. A case report. (19893470)
2009
28
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
2008
29
Neurofibroma of the vagus nerve in the cervical portion. (19166131)
2008
30
Cerclage technique for repairing large circular defects of the trunk: two-staged excision of a plexiform neurofibroma. (18384614)
2008
31
Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease. (17560189)
2007
32
Plexiform neurofibroma mimicking a pancreatic cystic tumour. (16227365)
2005
33
Neurofibromatosis I and unexplained iron deficiency in two patients: is iron depletion related to neurofibroma growth? (16283447)
2005
34
Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change. (15930909)
2005
35
Plexiform neurofibroma of the oesophagus: a mimicker of malignancy. (16352584)
2005
36
Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain. (15519868)
2004
37
A solitary laryngeal neurofibroma ina pediatric patient. (15754784)
2004
38
Clinics in diagnostic imaging (76). Left extradural-intradural lumbar neurofibroma. (12507033)
2002
39
A rare case of a facial-nerve neurofibroma in the parotid gland. (12550128)
2002
40
Neurofibroma and schwannoma. (12447105)
2002
41
Plexiform neurofibroma during and after pregnancy. (12410373)
2002
42
Perineurial cell differentiation in neurofibromas. Report of eight cases including a case with composite perineurioma-neurofibroma features. (11518046)
2001
43
Pigmented (melanotic) neurofibroma: a clinicopathologic and immunohistochemical analysis of 19 lesions from 17 patients. (10716146)
2000
44
Repression of the NF1 gene by Tax may expain the development of neurofibromas in human T-lymphotropic virus type 1 transgenic mice. (8627811)
1996
45
Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. (7585653)
1995
46
Pelvic plexiform neurofibroma--an obstetric dilemma. (7904957)
1993
47
Syndrome of inappropriate antidiuretic hormone secretion in a patient with intrasellar neurofibroma of the sixth nerve. (1957525)
1991
48
Pulsating orbital plexiform neurofibroma and optic nerve glioma. (2791937)
1989
49
Plexiform (multinodular) schwannoma. A tumor simulating the plexiform neurofibroma. (6638259)
1983
50
Ultrasonography of a plexiform neurofibroma of the popliteal fossa. (6820385)
1982

Variations for Neurofibroma

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Expression for genes affiliated with Neurofibroma

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Search GEO for disease gene expression data for Neurofibroma.

Pathways for genes affiliated with Neurofibroma

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Pathways related to Neurofibroma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7NF1, PDGFRA
29.3NF1, NF2, PDGFRA
39.2GLI1, MMP13

Compounds for genes affiliated with Neurofibroma

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Compounds related to Neurofibroma according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1ccl443 2810.9S100B, MMP13
2hydroxyapatite439.7S100B, MMP13
3colchicine43 59 2 28 1213.7NF1, S100B
4cyanogen bromide439.7MMP13, APOD
5tetracycline43 1210.5MMP13, TP73
6rapamycin439.5NF1, NF2, PDGFRA
7imatinib43 49 1211.4TP73, PDGFRA, S100B
8agarose439.4S100B, MMP13, APOD
9thymidine43 2410.3MMP13, PDGFRA, S100B
10cysteine439.2MMP13, S100B, NF2, NF1
11cyclic amp43 2410.1MMP13, S100B, NF1
12vegf439.0S100B, PDGFRA, MMP13, TP73
13fatty acid439.0APOD, TP73, S100B, NF1
14lipid438.8NF1, S100B, TP73, APOD
15phosphatidylinositol438.7MMP13, PDGFRA, NF1, GLI1
16progesterone43 28 59 24 1212.6APOD, TP73, S100B, NF2, NF1
17zinc43 249.6TP73, MMP13, S100B, GLI1
18oligonucleotide438.5APOD, TP73, MMP13, PDGFRA, NF1
19tyrosine438.4TP73, MMP13, PDGFRA, S100B, NF2, NF1
20estrogen438.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
21retinoic acid43 249.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
22paraffin437.8NF1, APOD, TP73, MMP13, PDGFRA, S100B

GO Terms for genes affiliated with Neurofibroma

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Cellular components related to Neurofibroma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:00484719.1NF2, S100B, APOD
2nucleusGO:00056346.8GLI1, TP73, SOX10, PDGFRA, S100B, NF2

Biological processes related to Neurofibroma according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:000195310.1NF1, NF2
2negative regulation of MAPK cascadeGO:004340910.1NF1, NF2
3adrenal gland developmentGO:003032510.0PDGFRA, NF1
4negative regulation of protein kinase activityGO:00064699.9NF1, NF2
5peripheral nervous system developmentGO:00074229.9NF1, SOX10
6odontogenesis of dentin-containing toothGO:00424759.8NF2, PDGFRA
7wound healingGO:00420609.7NF1, PDGFRA
8negative regulation of cell migrationGO:00303369.7NF1, NF2
9positive regulation of apoptotic processGO:00430659.5NF1, S100B, TP73
10osteoblast differentiationGO:00016499.5GLI1, NF1
11extracellular matrix organizationGO:00301989.5MMP13, PDGFRA, NF1
12positive regulation of DNA replicationGO:00457409.4GLI1, PDGFRA
13negative regulation of canonical Wnt signaling pathwayGO:00900909.1GLI1, SOX10
14positive regulation of cell proliferationGO:00082848.9PDGFRA, S100B, GLI1
15digestive tract morphogenesisGO:00485468.9GLI1, SOX10, TP73
16lung developmentGO:00303248.9GLI1, PDGFRA

Molecular functions related to Neurofibroma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.1GLI1, SOX10
2identical protein bindingGO:00428028.8S100B, SOX10, TP73
3chromatin bindingGO:00036828.5TP73, SOX10, GLI1
4protein bindingGO:00055156.5GLI1, NF1, NF2, S100B, PDGFRA, SOX10

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet