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Neurofibroma malady

Neuronal diseases, Cancer diseases categories
71 genes, 25 tissues, 231 related diseases, clinical trials.

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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Sources:
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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Sources:
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, Tongue, Thyroid, Colon, Kidney, Breast, Spinal cord, Tonsil, Cervix, Liver, Dorsal root ganglion, Trachea, Prostate, Appendix, Pancreas, Endothelial, Testis, Testes, Heart, Eye, Lymph node, Brain, Trigeminal ganglion

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
1
limbs/digits/tail phenotype
MP:000537110.7GLI1, CNTN2, SOX10
2
integument phenotype
MP:001077110.5S100B, SOX10, PDGFRA, CD34, MMP13, KITLG
3
tumorigenesis
MP:000200610.5PDGFRA, NF2, NF1, CD34, KITLG, TP73
4
hearing/vestibular/ear phenotype
MP:000537710.4APOD, NF2, NF1, NGFR, KITLG, TP73
5
respiratory system phenotype
MP:000538810.4PDGFRA, PDPN, NF2, NF1, CNP, NGFR
6
digestive/alimentary phenotype
MP:000538110.3SOX10, PDGFRA, PDPN, CNP, NGFR, GLI1
7
normal phenotype
MP:000287310.3S100B, S100A1, SOX10, PDGFRA, SYP, NF1
8
endocrine/exocrine gland phenotype
MP:000537910.3SOX10, PDGFRA, NF2, NF1, CNP, GLI1
9
skeleton phenotype
MP:000539010.3PDGFRA, PDPN, NF2, NF1, CNP, MMP13
10
muscle phenotype
MP:000536910.2PDGFRA, NF1, CNP, NGFR, ACTC1
11
growth/size phenotype
MP:000537810.2NF1, NF2, PDPN, PDGFRA, SOX10, CNP
12
homeostasis/metabolism phenotype
MP:000537610.2NF1, NF2, APOD, PDPN, PDGFRA, CNP
13
nervous system phenotype
MP:000363110.2NF2, SYP, APOD, PDGFRA, SOX10, NF1
14
embryogenesis phenotype
MP:000538010.2PDGFRA, NF2, NF1, GLI1, KITLG, TP73
15
cardiovascular system phenotype
MP:000538510.2S100A1, PDGFRA, PDPN, NF1, NGFR, MMP13
16
behavior/neurological phenotype
MP:000538610.1TP73, S100B, S100A1, SOX10, PDGFRA, PDPN
17
mortality/aging
MP:001076810.1SOX10, PDGFRA, PDPN, APOD, NF2, NF1
18
cellular phenotype
MP:000538410.1SOX10, PDGFRA, NF1, NGFR, GLI1, CD34
19
immune system phenotype
MP:00053879.9PDGFRA, PDPN, NF2, NF1, CNP, NGFR
20
craniofacial phenotype
MP: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
Synchronous plexiform neurofibroma in the arytenoids and neurofibroma in the parapharynx in a patient with non-neurofibromatosis: a case report. (23305487)
2013
2
The riddle of multinucleated "floret-like" giant cells and their detection in an extensive gluteal neurofibroma: a case report. (23890233)
2013
3
Carpal tunnel syndrome due to a plexiform neurofibroma of the median nerve in a neurofibromatosis type 1 patient: clinical approach. (23853185)
2013
4
Intrascrotal multiple neurofibromas unassociated with neurofibromatosis: a case report. (23204034)
2013
5
Spontaneous hemorrhage of a facial neurofibroma: endovascular embolization before surgical intervention. (24036831)
2013
6
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. (22108604)
2012
7
Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I. (21977094)
2011
8
Obstructive jaundice due to primary neurofibroma of the common bile duct. (20036204)
2011
9
Pathology quiz case 3. Diagnosis: plexiform neurofibroma of the larynx. (21690523)
2011
10
Surgical management of a giant plexiform neurofibroma of the lower extremity. (21704948)
2011
11
Atypical presentation of a periocular neurofibroma. (20924306)
2011
12
Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy. (21171515)
2010
13
Solitary neurofibroma of the gingiva with prominent differentiation of Meissner bodies: a case report. (20858283)
2010
14
The role of angiogenesis in the transformation of plexiform neurofibroma into malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. (20686424)
2010
15
Solitary intraosseous neurofibroma of the frontal bone. Case report. (20805655)
2010
16
Case of the month. Neurofibroma. (20232732)
2010
17
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
18
A case of diffuse neurofibroma of the scalp. (20548855)
2009
19
Case of pigmented neurofibroma with hypertrichosis with no association to neurofibromatosis. (19785708)
2009
20
Tranilast: a novel preventor of neurofibroma growth? (19527340)
2009
21
Pigmented neurofibroma in the superciliary arch. (22190984)
2009
22
Giant hemifacial plexiform neurofibroma arising from trigeminal ganglion. (19480042)
2009
23
A gastrointestinal stromal tumor of the stomach morphologically resembling a neurofibroma: demonstration of a novel platelet-derived growth factor receptor alpha exon 18 mutation. (18657298)
2008
24
Giant congenital melanocytic nevus with neurofibroma-like changes and spina bifida occulta. (17076723)
2006
25
Cellular neurofibroma with atypia mimics sarcoma: report of a case with immunohistochemical staining pattern analysis and literature review. (17098683)
2006
26
Surgical treatment of a left ventricular neurofibroma. (16684061)
2006
27
A neurofibroma with unusual morphology. (16710596)
2006
28
Neurofibroma with psammoma bodies. (16763946)
2006
29
Plexiform neurofibroma mimicking a pancreatic cystic tumour. (16227365)
2005
30
Solitary intraosseous neurofibroma of the tibia. (15838705)
2005
31
A solitary laryngeal neurofibroma ina pediatric patient. (15754784)
2004
32
Immunohistochemical staining for calretinin is useful for differentiating schwannomas from neurofibromas. (15487453)
2004
33
Huge occipital myxomatous plexiform neurofibroma in the absence of neurofibromatosis. (23649119)
2003
34
Solitary neurofibroma of kidney: clinical, histological and chromosomal appearance. (14620275)
2003
35
Neurofibroma and schwannoma. (12447105)
2002
36
Intratumoral fat in neurofibroma. (12142613)
2002
37
Neurofibroma in the mastoid segment of the facial canal. (12037391)
2002
38
Neurofibroma of the lacrimal sac. (12187414)
2002
39
Malignant schwannoma of the sciatic nerve originating in a spinal plexiform neurofibroma associated with neurofibromatosis type 1--case report. (11758709)
2001
40
CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred. (11433531)
2001
41
Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. (11159187)
2001
42
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. (11431704)
2001
43
Plexiform neurofibroma of the retropharyngeal space: a case report. (7501392)
1995
44
Plexiform neurofibroma: an unusual cause of neck lump in a child. (8024987)
1994
45
Pelvic plexiform neurofibroma--an obstetric dilemma. (7904957)
1993
46
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). (8317504)
1993
47
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. (6782020)
1980
48
Epicranial plexiform neurofibroma. (441932)
1979
49
Perineal neurofibroma. An unusual cause of urinary tract obstruction. (5428533)
1970
50
Plexiform neurofibroma associated with cutaneous pigmentation and bone manifestations. (13751021)
1961

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
1
Glioblastoma Multiforme51
10.4NF1, NF2, PDGFRA
2
Axonal growth inhibition (RHOA activation)53
Hide members
10.4NGFR, MAG
3
Glial Cell Differentiation37
10.3MAG, CNP
4
Neuroscience4
10.2NGFR, 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 1004410.7S100B, SYP, ACTC1
3reticulin4410.7S100B, SYP, CD34, ACTC1
42,3-cyclic nucleotide4410.7CNP, MAG, S100B
5mucicarmine4410.7S100B, S100A1, SYP, ACTC1
6orcein4410.7ACTC1, S100B
7dexamethasone44 49 28 1113.7KITLG, MMP13, S100B
8steroid4410.7SYP, NF1, CNTN2, NGFR, ACTC1
9agarose4410.7KITLG, MMP13, APOD, S100B
10imatinib44 49 1112.7S100B, PDGFRA, KITLG, ACTC1, TP73
11choline44 11 2412.7S100B, SYP, CNTN2, NGFR
12b 7234410.6S100B, S100A1, PDPN, SYP, ACTC1
13bromodeoxyuridine4410.6S100B, CNTN2, CNP, KITLG
14hydroxyapatite4410.6KITLG, MMP13, S100B
15phosphoserine44 2411.6MAG, CNTN2, CNP
16agar4410.6NF2, CNTN2, NGFR, CD34, KITLG
17forskolin44 49 1112.6S100B, SYP, NF1, CNTN2, CNP, NGFR
18retinoid4410.6APOD, CNTN2, NGFR, MMP13
19acetylcholine44 49 28 11 2414.6S100B, S100A1, SYP, MAG, NGFR
20dbc-amp4410.6NGFR, SYP, S100B
21cyclic amp44 2411.6S100B, SYP, NF1, MAG, CNTN2, NGFR
22creatinine4410.6ACTC1, KITLG, SYP, APOD
23oligonucleotide4410.6PDGFRA, APOD, NF1, CNTN2, NGFR, MMP13
24ganglioside4410.6SYP, MAG, NGFR
25phosphatidylinositol4410.6PDGFRA, NF1, NGFR, GLI1, MMP13, KITLG
26hematoxylin4410.5S100B, S100A1, PDPN, SYP, NGFR, CD34
27zinc44 2411.5S100B, S100A1, CNTN2, NGFR, GLI1, MMP13
284-hydroperoxycyclophosphamide4410.5CD34, KITLG
29phosphotyrosine4410.5PDGFRA, SYP, MAG, NGFR
30threonine4410.5S100B, NF2, MAG, CNTN2, NGFR, TP73
31nitric oxide44 11 2412.5S100B, S100A1, SYP, NGFR, MMP13, KITLG
32thymidine44 2411.5S100B, PDGFRA, MAG, CNTN2, NGFR, CD34
3312-o-tetradecanoylphorbol 13-acetate4410.5MMP13, CD34, NGFR, CNTN2
34cysteine4410.5S100B, S100A1, SYP, NF2, NF1, MAG
35tetracycline44 1111.5TP73, MMP13, CNTN2
36silver4410.5CD34, SYP, S100A1
37lipid4410.4S100B, APOD, SYP, NF1, MAG, CNP
38serine4410.4S100B, SYP, NF2, NF1, MAG, CNTN2
39progesterone44 59 28 11 2414.4SYP, APOD, S100A1, S100B, NF2, NF1
40oxygen44 2411.4S100B, CNTN2, NGFR, MMP13, KITLG, ACTC1
41vegf4410.4S100B, PDGFRA, PDPN, SYP, CNTN2, NGFR
42olopatadine44 1111.4S100A1, S100B
43calcium44 49 11 2413.4S100B, S100A1, PDGFRA, SYP, NF1, MAG
44glucose4410.3NGFR, GLI1, KITLG, ACTC1
45retinoic acid44 2411.3S100B, S100A1, PDGFRA, APOD, SYP, NF1
46paraffin4410.3TP73, S100B, S100A1, PDGFRA, PDPN, APOD
47testosterone44 59 11 2413.2ACTC1, KITLG, SYP, APOD, S100B
48tyrosine4410.2NF2, SYP, PDPN, PDGFRA, S100A1, S100B
49ethanol44 49 11 2413.2S100B, SYP, NGFR, KITLG
502-methoxyethanol4410.1ACTC1, S100A1

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
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