MCID: NRF007
MIFTS: 58

Neurofibroma malady

Rare diseases, Neuronal diseases, Cancer diseases categories
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Summaries for Neurofibroma

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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 based summary: Neurofibroma is related to neurofibromatosis and malignant peripheral nerve sheath tumor. 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:65 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:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 63UMLS via Orphanet
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Neurofibroma, Aliases & Descriptions:

Name: Neurofibroma 8 42 10 44 48 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:962
NCIt39 C3272
MeSH34 D009455
UMLS via Orphanet63 C0027830

Related Diseases for Neurofibroma

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

(show top 50)    (show all 181)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.8NF1, NF2
2malignant peripheral nerve sheath tumor31.6NF1
3plexiform neurofibroma31.5TP73, MMP13, PDGFRA, NF1
4perineurioma31.2S100B
5neurilemmoma30.7NF1, NF2
6neurofibrosarcoma30.5NF1, NF2, TP73
7acoustic neuroma30.3NF1, NF2
8tuberous sclerosis30.2NF1, S100B
9meningioma30.2TP73, S100B, NF2, NF1
10chordoma30.2S100B, PDGFRA
11ganglioglioma30.1S100B, APOD
12leiomyoma30.0PDGFRA, S100B
13gastrointestinal stromal tumor29.8PDGFRA, S100B, NF2, NF1
14basal cell carcinoma29.7GLI1, MMP13
15adenocarcinoma29.7TP73, MMP13, NF2, GLI1
16ependymoma29.5TP73, PDGFRA, S100B, NF2, NF1
17breast cancer29.5APOD, TP73, MMP13, NF2
18sarcoma29.3PDGFRA, S100B, NF2, NF1, GLI1
19melanoma29.2TP73, SOX10, MMP13, PDGFRA, S100B, NF2
20astrocytoma29.1APOD, TP73, PDGFRA, S100B, NF2, NF1
21rosai-dorfman disease10.5S100B
22cervicitis10.5
23chondroma10.4PDGFRA
24cellular neurofibroma10.3
25laryngitis10.3
26nervous system cancer10.3NF1, NF2
27fibrous meningioma10.3S100B, NF2
28anaplastic ependymoma10.3NF2, S100B
29neurofibroma of the esophagus10.3
30mediastinitis10.3
31papilloma10.3TP73
32paraganglioma10.3NF1, S100B
33multiple endocrine neoplasia10.3NF2, NF1
34atypical neurofibroma10.3
35juvenile myelomonocytic leukemia10.3NF1, PDGFRA
36pdgfrb-associated chronic eosinophilic leukemia10.3NF1, PDGFRA
37neurofibroma of the heart10.3
38ganglioneuroma10.3
39painful orbital and systemic neurofibromas-marfanoid habitus syndrome10.3
40leiomyosarcoma10.2PDGFRA, S100B
41obstructive jaundice10.2
42neurofibroma of gallbladder10.2
43mediastinum neurofibroma10.2
44synovial sarcoma10.2MMP13, S100B, NF1
45neuroendocrine tumor10.2NF1, PDGFRA
46laryngeal squamous cell carcinoma10.2TP73, MMP13
47neuroma10.2
48thyroiditis10.2
49esophageal cancer10.1TP73, MMP13
50bone marrow cancer10.1PDGFRA, NF1

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:

32
Bone, Skin, Tongue, Thyroid, Colon, Kidney, Salivary gland, Spinal cord, Breast, Liver, Cervix, Tonsil, Eye, Lymph node, Brain, Heart, Pancreas, 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:

36 (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 731)
idTitleAuthorsYear
1
Solitary plexiform neurofibroma of the stomach: a case report. (24803834)
2014
2
Coexistence of neurofibroma and meningioma at exactly the same level of the cervical spine. (25128077)
2014
3
Solitary giant neurofibroma of thigh. (25221761)
2014
4
Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. (25186217)
2014
5
Isolated diffuse episcleral neurofibroma. (23514030)
2013
6
Diffuse neurofibroma - an uncommon cause of alopecia. (24346909)
2013
7
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
8
Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. (23744851)
2013
9
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
10
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
11
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
12
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)
2012
13
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
14
Oral and maxillofacial pathology case of the month. Neurofibroma. (21928742)
2011
15
Pacinian neurofibroma: a rare neurogenic tumor. (21393958)
2011
16
Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)
2010
17
Could an osteoinductor result in degeneration of a neurofibroma in NF1? (20449613)
2010
18
A case of large sporadic neurofibroma of the hand. (20061199)
2010
19
Giant plexiform neurofibroma in neurofibromatosis type 1. (20212235)
2010
20
Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy. (21171515)
2010
21
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
22
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
23
Neurofibroma development in NF1--insights into tumour initiation. (19615906)
2009
24
Solitary neurofibroma of the palate. A case report. (19893470)
2009
25
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
2008
26
Neurofibroma of the vagus nerve in the cervical portion. (19166131)
2008
27
Cerclage technique for repairing large circular defects of the trunk: two-staged excision of a plexiform neurofibroma. (18384614)
2008
28
Unusual localization of a plexiform neurofibroma in a child with neurofibromatosis 1. (18954424)
2008
29
Plexiform neurofibroma of the finger. (18722169)
2008
30
Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease. (17560189)
2007
31
Hemimacroglossia caused by isolated plexiform neurofibroma: a case report. (16481830)
2006
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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Expression patterns in normal tissues for genes affiliated with Neurofibroma

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Pathways for genes affiliated with Neurofibroma

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Pathways related to Neurofibroma according to GeneCards/GeneDecks:

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/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1ccl444 2810.9S100B, MMP13
2hydroxyapatite449.7S100B, MMP13
3colchicine44 61 2 28 1113.7NF1, S100B
4cyanogen bromide449.7MMP13, APOD
5tetracycline44 1110.5MMP13, TP73
6rapamycin449.5NF1, NF2, PDGFRA
7imatinib44 50 1111.4TP73, PDGFRA, S100B
8agarose449.4S100B, MMP13, APOD
9thymidine44 2410.3MMP13, PDGFRA, S100B
10cysteine449.2MMP13, S100B, NF2, NF1
11cyclic amp44 2410.1MMP13, S100B, NF1
12vegf449.0S100B, PDGFRA, MMP13, TP73
13fatty acid449.0APOD, TP73, S100B, NF1
14lipid448.8NF1, S100B, TP73, APOD
15phosphatidylinositol448.7MMP13, PDGFRA, NF1, GLI1
16progesterone44 28 61 24 1112.6APOD, TP73, S100B, NF2, NF1
17zinc44 249.6TP73, MMP13, S100B, GLI1
18oligonucleotide448.5APOD, TP73, MMP13, PDGFRA, NF1
19tyrosine448.4TP73, MMP13, PDGFRA, S100B, NF2, NF1
20estrogen448.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
21retinoic acid44 249.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
22paraffin447.8NF1, APOD, TP73, MMP13, PDGFRA, S100B

GO Terms for genes affiliated with Neurofibroma

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Cellular components related to Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:0484719.1NF2, S100B, APOD
2nucleusGO:0056346.8GLI1, TP73, SOX10, PDGFRA, S100B, NF2

Biological processes related to Neurofibroma according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:00195310.1NF1, NF2
2negative regulation of MAPK cascadeGO:04340910.1NF1, NF2
3adrenal gland developmentGO:03032510.0PDGFRA, NF1
4negative regulation of protein kinase activityGO:0064699.9NF1, NF2
5peripheral nervous system developmentGO:0074229.9NF1, SOX10
6odontogenesis of dentin-containing toothGO:0424759.8NF2, PDGFRA
7wound healingGO:0420609.7NF1, PDGFRA
8negative regulation of cell migrationGO:0303369.7NF1, NF2
9positive regulation of apoptotic processGO:0430659.5NF1, S100B, TP73
10osteoblast differentiationGO:0016499.5GLI1, NF1
11extracellular matrix organizationGO:0301989.5MMP13, PDGFRA, NF1
12positive regulation of DNA replicationGO:0457409.4GLI1, PDGFRA
13negative regulation of canonical Wnt signaling pathwayGO:0900909.1GLI1, SOX10
14positive regulation of cell proliferationGO:0082848.9PDGFRA, S100B, GLI1
15digestive tract morphogenesisGO:0485468.9GLI1, SOX10, TP73
16lung developmentGO:0303248.9GLI1, PDGFRA

Molecular functions related to Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.1GLI1, SOX10
2identical protein bindingGO:0428028.8S100B, SOX10, TP73
3chromatin bindingGO:0036828.5TP73, SOX10, GLI1
4protein bindingGO:0055156.5GLI1, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet