MCID: NRF007
MIFTS: 57

Neurofibroma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Neurofibroma

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 A neurofibroma isĀ 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 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 salivary gland, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Wikipedia:66 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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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

neurofibroma 9 44 11 46 50 63


External Ids:

Disease Ontology9 DOID:962
NCIt41 C3272
MeSH36 D009455
SNOMED-CT via Orphanet60 404029005
UMLS via Orphanet64 C0027830

Related Diseases for Neurofibroma

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18GeneCards, 19GeneDecks
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Diseases related to Neurofibroma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 175)
idRelated DiseaseScoreTop Affiliating Genes
1plexiform neurofibroma31.6TP73, MMP13, PDGFRA, NF1
2neurofibromatosis31.4NF1, NF2
3malignant peripheral nerve sheath tumor30.9NF1
4perineurioma30.5S100B
5neurilemmoma30.3NF1, NF2
6neurofibrosarcoma30.3NF1, NF2, TP73
7melanoma30.2TP73, SOX10, MMP13, PDGFRA, S100B, NF2
8meningioma30.1TP73, S100B, NF2, NF1
9adenocarcinoma30.0TP73, MMP13, NF2, GLI1
10basal cell carcinoma29.9GLI1, MMP13
11acoustic neuroma29.9NF1, NF2
12tuberous sclerosis29.9NF1, S100B
13chordoma29.9S100B, PDGFRA
14ganglioglioma29.8S100B, APOD
15leiomyoma29.8PDGFRA, S100B
16gastrointestinal stromal tumor29.8PDGFRA, S100B, NF2, NF1
17ependymoma29.7TP73, PDGFRA, S100B, NF2, NF1
18breast cancer29.7APOD, TP73, MMP13, NF2
19sarcoma29.7PDGFRA, S100B, NF2, NF1, GLI1
20astrocytoma29.6APOD, TP73, PDGFRA, S100B, NF2, NF1
21cervicitis10.4
22cellular neurofibroma10.3
23laryngitis10.3
24neurofibroma of the esophagus10.3
25mediastinitis10.3
26atypical neurofibroma10.2
27painful orbital and systemic neurofibromas-marfanoid habitus syndrome10.2
28obstructive jaundice10.2
29neurofibroma of the heart10.2
30ganglioneuroma10.2
31mediastinum neurofibroma10.2
32neuroma10.2
33thyroiditis10.2
34rosai-dorfman disease10.1S100B
35chondroma10.1PDGFRA
36epithelioid neurofibroma10.1
37neurofibroma of gallbladder10.1
38meningocele10.1
39hypertrichosis10.1
40nervous system cancer10.1NF1, NF2
41fibrous meningioma10.1S100B, NF2
42anaplastic ependymoma10.1NF2, S100B
43papilloma10.1TP73
44paraganglioma10.1NF1, S100B
45multiple endocrine neoplasia10.1NF2, NF1
46juvenile myelomonocytic leukemia10.1NF1, PDGFRA
47chronic myelomonocytic leukemia10.1NF1, PDGFRA
48leiomyosarcoma10.1PDGFRA, S100B
49synovial sarcoma10.0MMP13, S100B, NF1
50neuroendocrine tumor10.0NF1, PDGFRA

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Neurofibroma

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Genetic Tests for Neurofibroma

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Anatomical Context for Neurofibroma

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34MalaCards
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MalaCards organs/tissues related to Neurofibroma:

34
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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38MGI
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MGI Mouse Phenotypes related to Neurofibroma:

38 (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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53PubMed
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Articles related to Neurofibroma:

(show top 50)    (show all 700)
idTitleAuthorsYear
1
Isolated diffuse episcleral neurofibroma. (23514030)
2013
2
Diffuse neurofibroma - an uncommon cause of alopecia. (24346909)
2013
3
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
4
Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. (23744851)
2013
5
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
6
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
7
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
8
Vascular wall cells contribute to tumourigenesis in cutaneous neurofibromas of patients with neurofibromatosis type 1. A comparative histological, ultrastructural and immunohistochemical study. (22593502)
2012
9
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)
2012
10
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
11
Sacrococcygeal neurofibroma: rare cause for chronic pelvic pain. (22748957)
2012
12
Oral and maxillofacial pathology case of the month. Neurofibroma. (21928742)
2011
13
Pacinian neurofibroma: a rare neurogenic tumor. (21393958)
2011
14
Neurofibroma of the sciatic nerve with neurofibromatosis type 1. (21960084)
2011
15
False-negative fluorine-18 fluorodeoxyglucose positron emission tomography of a malignant peripheral nerve sheath tumor arising from a plexiform neurofibroma in the setting of neurofibromatosis type 1. (21838076)
2011
16
Plexiform neurofibroma of the submandibular salivary gland: a rare tumour. (22654338)
2011
17
Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)
2010
18
Could an osteoinductor result in degeneration of a neurofibroma in NF1? (20449613)
2010
19
A case of large sporadic neurofibroma of the hand. (20061199)
2010
20
Giant plexiform neurofibroma in neurofibromatosis type 1. (20212235)
2010
21
Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy. (21171515)
2010
22
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
23
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
24
Neurofibroma development in NF1--insights into tumour initiation. (19615906)
2009
25
Solitary neurofibroma of the palate. A case report. (19893470)
2009
26
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters
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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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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 3BitterDB, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Neurofibroma according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1ccl446 3010.9S100B, MMP13
2hydroxyapatite469.7S100B, MMP13
3colchicine46 62 3 30 1213.7NF1, S100B
4cyanogen bromide469.7MMP13, APOD
5tetracycline46 1210.5MMP13, TP73
6rapamycin469.5NF1, NF2, PDGFRA
7imatinib46 52 1211.4TP73, PDGFRA, S100B
8agarose469.4S100B, MMP13, APOD
9thymidine46 2510.3MMP13, PDGFRA, S100B
10cysteine469.2MMP13, S100B, NF2, NF1
11cyclic amp46 2510.1MMP13, S100B, NF1
12vegf469.0S100B, PDGFRA, MMP13, TP73
13fatty acid469.0APOD, TP73, S100B, NF1
14lipid468.8NF1, S100B, TP73, APOD
15phosphatidylinositol468.7MMP13, PDGFRA, NF1, GLI1
16progesterone46 30 62 25 1212.6APOD, TP73, S100B, NF2, NF1
17zinc46 259.6TP73, MMP13, S100B, GLI1
18oligonucleotide468.5APOD, TP73, MMP13, PDGFRA, NF1
19tyrosine468.4TP73, MMP13, PDGFRA, S100B, NF2, NF1
20estrogen468.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
21retinoic acid46 259.1APOD, TP73, MMP13, PDGFRA, S100B, NF1
22paraffin467.8NF1, APOD, TP73, MMP13, PDGFRA, S100B

GO Terms for genes affiliated with Neurofibroma

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17Gene Ontology
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet