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Neurofibroma malady

Neuronal, Cancer categories
71 genes, 226 related diseases, clinical trials.

Summaries for Neurofibroma

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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. Related mouse phenotypes are limbs/digits/tail and integument.

Wikipedia:64 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, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Classifications:

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


Aliases & Descriptions:

neurofibroma 8 43 10 45 49 61


External Ids:

Disease Ontology8 DOID:962
NCIt40 C3272
MeSH35 D009455

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 226)
idRelated DiseaseScoreTop Affiliating Genes
1plexiform neurofibroma31.6TP73, NF1, PDGFRA, MMP13
2neurofibromatosis31.3S100B, NF1, NGFR, MMP13, KITLG, PDGFRA
3ganglioneuroma30.4SYP, S100B, NGFR
4neurofibrosarcoma30.2TP73, NF2, NF1
5adenocarcinoma30.1MMP13, ACTC1, GLI1, NGFR, CD34, KITLG
6basal cell carcinoma30.0ACTC1, GLI1, CD34, MMP13
7pheochromocytoma30.0SYP, NGFR, NF1
8acoustic neuroma29.7NGFR, NF1, NF2
9granular cell tumor29.7S100A1, S100B, SYP
10tuberous sclerosis29.7SYP, S100B, NF1
11ganglioglioma29.7SYP, S100B, APOD
12angiosarcoma29.7PDPN, PDGFRA, ACTC1, CD34
13microphthalmia29.7ACTC1, S100B
14ependymoma29.7SYP, NF1, NGFR, TP73, NF2, S100B
15gastrointestinal stromal tumor29.7S100B, S100A1, PDGFRA, NF2, CD34, KITLG
16astrocytoma29.7NF1, S100B, NF2, PDGFRA, APOD, TP73
17pyogenic granuloma29.7ACTC1, CD34
18papillary carcinoma29.7S100A1, SYP, ACTC1
19squamous cell carcinoma29.7PDGFRA, S100A1, PDPN, SYP, TP73, NF1
20cellular neurofibroma10.3
21n syndrome10.3
22atypical neurofibroma10.3
23painful orbital and systemic neurofibromas-marfanoid habitus syndrome10.2
24obstructive jaundice10.2
25mediastinum neurofibroma10.1
26epithelioid neurofibroma10.1
27plexiform schwannoma10.1
28neurofibroma of gallbladder10.1
29neurofibroma of the heart10.1
30meningocele10.1
31bladder disease10.1
32giant congenital nevus10.1
33watson syndrome10.1
34chronic pain10.1
35neurofibroma of the esophagus10.0
36pacinian tumor10.0
37exophthalmos10.0
38intussusception10.0
39urticaria pigmentosa10.0
40neurofibroma of spinal cord10.0
41urticaria10.0
42cutis verticis gyrata10.0
43kidney cancer10.0PDPN
44histiocytosis10.0S100B
45pancreatitis10.0KITLG
46carney triad10.0PDGFRA
47rosai-dorfman disease10.0S100B
48merkel cell carcinoma10.0SYP
49ductal carcinoma in situ10.0PDPN
50chondroma10.0PDGFRA

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, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Neurofibroma

Drug clinical trials:

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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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Animal Models for Neurofibroma or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Neurofibroma:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
limbs/digits/tail phenotype
MP:000537110.7CNTN2, GLI1, SOX10
2
integument phenotype
MP:001077110.5MMP13, SOX10, PDGFRA, CD34, KITLG, S100B
3
tumorigenesis
MP:000200610.5CD34, NF1, PDGFRA, KITLG, NF2, TP73
4
hearing/vestibular/ear phenotype
MP:000537710.4NF1, NF2, APOD, NGFR, TP73, KITLG
5
respiratory system phenotype
MP:000538810.4TP73, GLI1, NGFR, CNP, NF1, PDGFRA
6
digestive/alimentary phenotype
MP:000538110.3PDPN, CNP, GLI1, KITLG, TP73, NGFR
7
normal phenotype
MP:000287310.3ACTC1, GLI1, NGFR, NF1, SYP, S100A1
8
endocrine/exocrine gland phenotype
MP:000537910.3CNP, GLI1, NF1, NF2, PDGFRA, SOX10
9
skeleton phenotype
MP:000539010.3TP73, KITLG, MMP13, PDGFRA, PDPN, NF2
10
muscle phenotype
MP:000536910.2ACTC1, NGFR, CNP, NF1, PDGFRA
11
growth/size phenotype
MP:000537810.2PDPN, TP73, ACTC1, KITLG, PDGFRA, NGFR
12
homeostasis/metabolism phenotype
MP:000537610.2APOD, NF2, NF1, CNP, PDPN, NGFR
13
nervous system phenotype
MP:000363110.2APOD, TP73, KITLG, GLI1, NGFR, SOX10
14
embryogenesis phenotype
MP:000538010.2SOX10, PDGFRA, NF2, NF1, TP73, KITLG
15
cardiovascular system phenotype
MP:000538510.2TP73, KITLG, MMP13, NGFR, NF1, PDPN
16
behavior/neurological phenotype
MP:000538610.1SOX10, S100B, S100A1, PDGFRA, PDPN, APOD
17
mortality/aging
MP:001076810.1GLI1, TP73, ACTC1, KITLG, PDPN, NGFR
18
cellular phenotype
MP:000538410.1GLI1, SOX10, PDGFRA, CD34, NF1, NGFR
19
immune system phenotype
MP:00053879.9PDPN, PDGFRA, NGFR, CNP, NF1, KITLG
20
craniofacial phenotype
MP:00053829.9NF2, NGFR, KITLG, TP73, PDGFRA, NF1

Publications for Neurofibroma

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51PubMed
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Articles related to Neurofibroma:

(show top 50)    (show all 2147)
idTitleAuthorsYear
1
Translabyrinthine resection of neurofibromatosis type 2 associated vestibular and facial schwannomas, repair of facial nerve, and placement of auditory brainstem implant. (24380525)
2014
2
Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. (24311643)
2014
3
Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient. (23602237)
2013
4
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
5
Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1. (22848017)
2013
6
Ischemic leg ulcer due to vasculopathy associated with neurofibromatosis type 1. (23985802)
2013
7
Epilepsy in individuals with neurofibromatosis type 1. (24032542)
2013
8
Neurofibromatosis type 2 in the elderly population: clinical and molecular features. (23322716)
2013
9
Cerebellar anaplastic astrocytoma in an adult with neurofibromatosis type 1: case report and review of literature. (23670807)
2013
10
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. (23463485)
2013
11
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype. (23780384)
2013
12
Conservative management of bilateral vestibular schwannomas in neurofibromatosis type 2 patients: hearing and tumor growth results. (23407292)
2013
13
Development of the adult PedsQLa8c neurofibromatosis type 1 module: initial feasibility, reliability and validity. (23432799)
2013
14
Screening for mutation site on the type I neurofibromatosis gene in a family. (22207399)
2012
15
Sacrococcygeal neurofibroma: rare cause for chronic pelvic pain. (22748957)
2012
16
c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions. (23144792)
2012
17
Danish sperm donor passed neurofibromatosis on to five children. (23045321)
2012
18
Extra Gastrointestinal Stromal Tumor treated with imatinib in a patient with Neurofibromatosis type 1. (23205316)
2012
19
Visual loss in orbitofacial neurofibromatosis type 1. (22709421)
2012
20
Occipital peripheral nerve stimulation in the management of chronic intractable occipital neuralgia in a patient with neurofibromatosis type 1: a case report. (21569290)
2011
21
Plexiform neurofibroma: a rare tumor of submandibular salivary gland. (22091342)
2010
22
Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1. (18643859)
2009
23
Case of pigmented neurofibroma with hypertrichosis with no association to neurofibromatosis. (19785708)
2009
24
Actin expression in neural crest cell-derived tumors including schwannomas, malignant peripheral nerve sheath tumors, neurofibromas and melanocytic tumors. (19154261)
2009
25
Floret-like multinucleated giant cells in a neurofibroma outside the context of neurofibromatosis type 1. (19701070)
2009
26
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
2008
27
Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. (18218617)
2008
28
Hybrid neurofibroma-schwannoma of the orbit. (18569835)
2008
29
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
30
Identification and characterization of putative tumor suppressor NGB, a GTP-binding protein that interacts with the neurofibromatosis 2 protein. (17210637)
2007
31
Primary malignant peripheral nerve sheath tumor of the lung in a young child without neurofibromatosis type 1. (16544294)
2006
32
Expression of CyclinD1, p27kp-1, and bcl-2 in plexiform neurofibroma with and without malignant transformation in neurofibromatosis type 1. (17718269)
2006
33
Orbital neurofibroma presenting with a negative Hounsfield unit on computerized tomography. (16987773)
2006
34
A reciprocal t(4;9)(q31;p22) in a solitary neurofibroma. (15642399)
2005
35
JCV T-antigen interacts with the neurofibromatosis type 2 gene product in a transgenic mouse model of malignant peripheral nerve sheath tumors. (15133494)
2004
36
A rare case of a facial-nerve neurofibroma in the parotid gland. (12550128)
2002
37
Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. (12077339)
2002
38
Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus. (10720287)
2000
39
Quantitative analysis of NF1 and OMGP gene transcripts in sporadic gliomas, sporadic meningiomas and neurofibromatosis type 1-associated plexiform neurofibromas. (10378372)
1999
40
Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: a clinicopathologic and immunohistochemical analysis of 54 cases. (9688181)
1998
41
Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes. (9813292)
1998
42
NF1 (neurofibromatosis type 1)]. (9309135)
1997
43
p53 expression in neurofibroma and malignant peripheral nerve sheath tumor. An immunohistochemical study of sporadic and NF1-associated tumors. (8816583)
1996
44
Solitary plexiform neurofibroma of the submandibular salivary gland. (9015438)
1996
45
Intramedullary subependymoma with neurofibromatosis--report of two cases. (1378943)
1992
46
Neurocutaneous melanosis, neurofibromatosis and spinal meningioma: an unusual association. (2113761)
1990
47
Neurofibromatosis and acute monocytic leukemia in adults. (2507124)
1989
48
Neurofibromatosis and small bowel adenocarcinoma: an unrecognised association. (3119436)
1987
49
Intradural neurofibroma simulating lumbar-disc disease. Report of six cases. (977617)
1976
50
Thoracic meningocele associated with neurofibromatosis. (13429680)
1957

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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52QIAGEN, 54Reactome, 38NCBI 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
1
Glioblastoma Multiforme52
10.4PDGFRA, NF2, NF1
2
Axonal growth inhibition (RHOA activation)54
Hide members
10.4NGFR, MAG
3
Glial Cell Differentiation38
10.3MAG, CNP
4
Neuroscience4
10.2NGFR, CNP, MAG, NF2, SYP, S100B

Compounds for genes affiliated with Neurofibroma

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45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Neurofibroma according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8NF1, CNTN2
2s 1004510.7ACTC1, SYP, S100B
3reticulin4510.7SYP, ACTC1, S100B, CD34
42,3-cyclic nucleotide4510.7CNP, S100B, MAG
5mucicarmine4510.7ACTC1, S100A1, S100B, SYP
6orcein4510.7ACTC1, S100B
7dexamethasone45 50 29 1113.7S100B, KITLG, MMP13
8steroid4510.7NF1, CNTN2, NGFR, ACTC1, SYP
9agarose4510.7APOD, S100B, KITLG, MMP13
10imatinib45 50 1112.7ACTC1, KITLG, S100B, TP73, PDGFRA
11choline45 11 2412.7CNTN2, NGFR, SYP, S100B
12b 7234510.6ACTC1, SYP, PDPN, S100A1, S100B
13bromodeoxyuridine4510.6CNTN2, KITLG, CNP, S100B
14hydroxyapatite4510.6MMP13, KITLG, S100B
15phosphoserine45 2411.6CNP, CNTN2, MAG
16agar4510.6CD34, NGFR, CNTN2, KITLG, NF2
17forskolin45 50 1112.6S100B, NF1, CNTN2, CNP, NGFR, SYP
18retinoid4510.6CNTN2, NGFR, MMP13, APOD
19acetylcholine45 50 29 11 2414.6NGFR, S100B, S100A1, SYP, MAG
20dbc-amp4510.6SYP, NGFR, S100B
21cyclic amp45 2411.6CNTN2, S100B, SYP, NF1, MAG, NGFR
22creatinine4510.6APOD, SYP, KITLG, ACTC1
23oligonucleotide4510.6TP73, MMP13, NGFR, NF1, APOD, PDGFRA
24ganglioside4510.6MAG, SYP, NGFR
25phosphatidylinositol4510.6PDGFRA, NF1, NGFR, GLI1, MMP13, KITLG
26hematoxylin4510.5S100A1, S100B, PDPN, NGFR, ACTC1, SYP
27zinc45 2411.5GLI1, S100A1, S100B, TP73, NGFR, MMP13
284-hydroperoxycyclophosphamide4510.5CD34, KITLG
29phosphotyrosine4510.5PDGFRA, SYP, MAG, NGFR
30threonine4510.5S100B, MAG, NGFR, NF2, TP73, CNTN2
31nitric oxide45 11 2412.5SYP, NGFR, S100B, MMP13, KITLG, S100A1
32thymidine45 2411.5NGFR, S100B, PDGFRA, MAG, CNTN2, CD34
3312-o-tetradecanoylphorbol 13-acetate4510.5CNTN2, NGFR, MMP13, CD34
34cysteine4510.5NF1, MAG, S100A1, S100B, MMP13, NGFR
35tetracycline45 1111.5MMP13, TP73, CNTN2
36silver4510.5CD34, SYP, S100A1
37lipid4510.4NGFR, S100B, KITLG, APOD, SYP, NF1
38serine4510.4NF1, KITLG, MMP13, NGFR, CNTN2, MAG
39progesterone45 60 29 11 2414.4NF2, NGFR, CD34, ACTC1, TP73, SYP
40oxygen45 2411.4KITLG, S100B, MMP13, ACTC1, CNTN2, NGFR
41vegf4510.4KITLG, ACTC1, TP73, S100B, PDGFRA, PDPN
42olopatadine45 1111.4S100B, S100A1
43calcium45 50 11 2413.4SYP, S100B, S100A1, PDGFRA, KITLG, NF1
44glucose4510.3ACTC1, KITLG, NGFR, GLI1
45retinoic acid45 2411.3CNTN2, NGFR, KITLG, MMP13, CD34, ACTC1
46paraffin4510.3S100A1, TP73, ACTC1, KITLG, MMP13, CD34
47testosterone45 60 11 2413.2KITLG, SYP, APOD, S100B, ACTC1
48tyrosine4510.2CNTN2, TP73, ACTC1, KITLG, S100B, S100A1
49ethanol45 50 11 2413.2KITLG, NGFR, S100B, SYP
502-methoxyethanol4510.1S100A1, 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:04847110.2S100B, APOD, NF2, CNP, CD34
3integral to plasma membraneGO:00588710.2PDGFRA, PDPN, CNTN2, NGFR, SEMA4F, CD34
4plasma membraneGO:0058869.6SEMA4F, PDGFRA, PDPN, KITLG, CD34, NGFR

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:04574010.5GLI1, KITLG, PDGFRA
3lung developmentGO:03032410.5PDGFRA, PDPN, GLI1
4cardiac myofibril assemblyGO:05500310.5ACTC1, PDGFRA
5positive regulation of apoptotic processGO:04306510.4NGFR, TP73, S100B, NF1
6negative regulation of cell-matrix adhesionGO:00195310.4NF2, NF1
7regulation of neuronal synaptic plasticityGO:04816810.4CNTN2, S100B
8neurotrophin TRK receptor signaling pathwayGO:04801110.2KITLG, PDGFRA, MAG, NGFR
9negative regulation of MAPK cascadeGO:04340910.1NF2, NF1

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
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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