Neurofibroma disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Neurofibroma

Sources:
⁴²NIH Rare Diseases, ⁶⁴Wikipedia, 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 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:⁶⁴ A neurofibroma is a benign nerve sheath tumor in the peripheral nervous system. Usually found in... more...

Aliases & Classifications for Neurofibroma

Sources:
⁹Disease Ontology, ⁴²NIH Rare Diseases, ¹¹DISEASES, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁶¹UMLS, ⁵⁶SNOMED-CT, ³⁹NCIt, ³⁴MeSH, ⁶²UMLS via Orphanet
See all sources

Neurofibroma, Aliases & Descriptions:

Name: Neurofibroma ⁹ ⁴² ¹¹ ⁴⁴ ⁴⁸ ⁶¹

Classifications:

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

Orphanet: ⁴⁸

Rare neurological diseases

Rare tumors

External Ids:

Disease Ontology⁹ DOID:962

NCIt³⁹ C3272

SNOMED-CT⁵⁶ 189947001, 89084002, 404029005 115242003, 134214003, more

MeSH³⁴ D009455

UMLS via Orphanet⁶² C0027830

UMLS⁶¹ C0027830

Related Diseases for Neurofibroma

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show top 50) (show all 181)

id	Related Disease	Score	Top Affiliating Genes
1	neurofibromatosis	31.8	NF1, NF2
2	malignant peripheral nerve sheath tumor	31.6	NF1
3	plexiform neurofibroma	31.5	TP73, MMP13, PDGFRA, NF1
4	perineurioma	31.2	S100B
5	neurilemmoma	30.7	NF1, NF2
6	neurofibrosarcoma	30.5	NF1, NF2, TP73
7	acoustic neuroma	30.3	NF1, NF2
8	tuberous sclerosis	30.2	NF1, S100B
9	meningioma	30.2	TP73, S100B, NF2, NF1
10	chordoma	30.2	S100B, PDGFRA
11	ganglioglioma	30.1	S100B, APOD
12	leiomyoma	30.0	PDGFRA, S100B
13	gastrointestinal stromal tumor	29.8	PDGFRA, S100B, NF2, NF1
14	basal cell carcinoma	29.7	GLI1, MMP13
15	adenocarcinoma	29.7	TP73, MMP13, NF2, GLI1
16	ependymoma	29.5	TP73, PDGFRA, S100B, NF2, NF1
17	breast cancer	29.5	APOD, TP73, MMP13, NF2
18	sarcoma	29.3	PDGFRA, S100B, NF2, NF1, GLI1
19	melanoma	29.2	TP73, SOX10, MMP13, PDGFRA, S100B, NF2
20	astrocytoma	29.1	APOD, TP73, PDGFRA, S100B, NF2, NF1
21	rosai-dorfman disease	10.5	S100B
22	cervicitis	10.5
23	chondroma	10.4	PDGFRA
24	cellular neurofibroma	10.3
25	laryngitis	10.3
26	nervous system cancer	10.3	NF1, NF2
27	fibrous meningioma	10.3	S100B, NF2
28	anaplastic ependymoma	10.3	NF2, S100B
29	neurofibroma of the esophagus	10.3
30	mediastinitis	10.3
31	papilloma	10.3	TP73
32	paraganglioma	10.3	NF1, S100B
33	multiple endocrine neoplasia	10.3	NF2, NF1
34	atypical neurofibroma	10.3
35	juvenile myelomonocytic leukemia	10.3	NF1, PDGFRA
36	pdgfrb-associated chronic eosinophilic leukemia	10.3	NF1, PDGFRA
37	neurofibroma of the heart	10.3
38	ganglioneuroma	10.3
39	painful orbital and systemic neurofibromas-marfanoid habitus syndrome	10.3
40	leiomyosarcoma	10.2	PDGFRA, S100B
41	obstructive jaundice	10.2
42	neurofibroma of gallbladder	10.2
43	mediastinum neurofibroma	10.2
44	synovial sarcoma	10.2	MMP13, S100B, NF1
45	neuroendocrine tumor	10.2	NF1, PDGFRA
46	laryngeal squamous cell carcinoma	10.2	TP73, MMP13
47	neuroma	10.2
48	thyroiditis	10.2
49	esophageal cancer	10.1	TP73, MMP13
50	bone marrow cancer	10.1	PDGFRA, NF1

Graphical network of the top 20 diseases related to Neurofibroma:

Symptoms for Neurofibroma

Drugs & Therapeutics for Neurofibroma

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Neurofibroma

Search NIH Clinical Center for Neurofibroma

Genetic Tests for Neurofibroma

Anatomical Context for Neurofibroma

Sources:
³²MalaCards
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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

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Neurofibroma:

³⁶ (show all 20)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.9	SOX10, PDGFRA, NF1
2	hearing/vestibular/ear phenotype	MP:0005377	8.8	APOD, TP73, NF2, NF1
3	skeleton phenotype	MP:0005390	8.5	TP73, MMP13, PDGFRA, NF2, NF1
4	craniofacial phenotype	MP:0005382	8.5	TP73, SOX10, PDGFRA, NF2, NF1
5	renal/urinary system phenotype	MP:0005367	8.4	GLI1, NF1, NF2, PDGFRA
6	integument phenotype	MP:0010771	8.3	SOX10, MMP13, PDGFRA, S100B, NF2, NF1
7	limbs/digits/tail phenotype	MP:0005371	8.2	SOX10, MMP13, PDGFRA, NF1, GLI1
8	digestive/alimentary phenotype	MP:0005381	8.2	GLI1, PDGFRA, SOX10, TP73
9	cardiovascular system phenotype	MP:0005385	8.1	APOD, TP73, MMP13, PDGFRA, NF1
10	normal phenotype	MP:0002873	8.1	GLI1, NF1, S100B, PDGFRA, SOX10
11	tumorigenesis	MP:0002006	7.8	TP73, SOX10, PDGFRA, NF2, NF1, GLI1
12	respiratory system phenotype	MP:0005388	7.8	TP73, SOX10, PDGFRA, NF2, NF1, GLI1
13	endocrine/exocrine gland phenotype	MP:0005379	7.8	TP73, SOX10, PDGFRA, NF2, NF1, GLI1
14	embryogenesis phenotype	MP:0005380	7.8	TP73, SOX10, PDGFRA, NF2, NF1, GLI1
15	cellular phenotype	MP:0005384	7.6	TP73, SOX10, MMP13, PDGFRA, NF1, GLI1
16	homeostasis/metabolism phenotype	MP:0005376	7.5	APOD, TP73, SOX10, MMP13, PDGFRA, NF2
17	growth/size/body phenotype	MP:0005378	7.3	TP73, SOX10, MMP13, PDGFRA, NF2, NF1
18	nervous system phenotype	MP:0003631	7.1	APOD, TP73, SOX10, PDGFRA, NF2, NF1
19	mortality/aging	MP:0010768	7.0	APOD, TP73, SOX10, PDGFRA, NF2, NF1
20	behavior/neurological phenotype	MP:0005386	6.8	GLI1, APOD, TP73, SOX10, PDGFRA, S100B

Publications for Neurofibroma

Sources:
⁵¹PubMed
See all sources

Articles related to Neurofibroma:

(show top 50) (show all 731)

id	Title	Authors	Year
1	Solitary plexiform neurofibroma of the stomach: a case report. (24803834)	Shi L.... Lu Z.J.	2014
2	Coexistence of neurofibroma and meningioma at exactly the same level of the cervical spine. (25128077)	Chen K.Y.... Cheng H.	2014
3	Solitary giant neurofibroma of thigh. (25221761)	Tahririan M.A.... Hekmatnia F.	2014
4	Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. (25186217)	Goyal S.... Pemberton J.D.	2014
5	Isolated diffuse episcleral neurofibroma. (23514030)	Mohyudin M.N.... Thaung C.	2013
6	Diffuse neurofibroma - an uncommon cause of alopecia. (24346909)	Macias V.C.... Rosa J.C.	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)	Nasir A.A.	2013
8	Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. (23744851)	Doulias T.... Koutelidakis I.	2013
9	Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)	Lastra R.R.... Barroeta J.E.	2012
10	Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)	Nguyen R.... Mautner V.F.	2012
11	Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)	Dereure O.	2012
12	Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)	Beert E.... Debiec-Rychter M.	2012
13	Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)	Robertson K.A.... Clapp D.W.	2012
14	Oral and maxillofacial pathology case of the month. Neurofibroma. (21928742)	Phu J.T.... Kessler H.P.	2011
15	Pacinian neurofibroma: a rare neurogenic tumor. (21393958)	Nath A.K.... Basu D.	2011
16	Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)	Chieng G.H.... Mirza M.	2010
17	Could an osteoinductor result in degeneration of a neurofibroma in NF1? (20449613)	Steib J.P.... Philippe C.	2010
18	A case of large sporadic neurofibroma of the hand. (20061199)	Pearl R.A.... O'Toole G.	2010
19	Giant plexiform neurofibroma in neurofibromatosis type 1. (20212235)	Savva E.... Burkhard P.R.	2010
20	Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy. (21171515)	Vecchio G.M.... Magro G.	2010
21	A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)	Back S.J.... Lee J.H.	2009
22	Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)	Dalgorf D.... Solomon P.	2009
23	Neurofibroma development in NF1--insights into tumour initiation. (19615906)	Parrinello S.... Lloyd A.C.	2009
24	Solitary neurofibroma of the palate. A case report. (19893470)	Mazzoleni S.... Stellini E.	2009
25	Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)	Upadhyaya M.... Mautner V.	2008
26	Neurofibroma of the vagus nerve in the cervical portion. (19166131)	Matejcik V.... Mravec B.	2008
27	Cerclage technique for repairing large circular defects of the trunk: two-staged excision of a plexiform neurofibroma. (18384614)	Nakhla T.N.... Schwarcz R.M.	2008
28	Unusual localization of a plexiform neurofibroma in a child with neurofibromatosis 1. (18954424)	Fabrizi G.... Massi G.	2008
29	Plexiform neurofibroma of the finger. (18722169)	Nambi G.I.... Kumaran S.	2008
30	Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease. (17560189)	Park J.	2007
31	Hemimacroglossia caused by isolated plexiform neurofibroma: a case report. (16481830)	Guclu E.... Egeli E.	2006
32	Plexiform neurofibroma mimicking a pancreatic cystic tumour. (16227365)	Handra-Luca A.... Couvelard A.	2005
33	Neurofibromatosis I and unexplained iron deficiency in two patients: is iron depletion related to neurofibroma growth? (16283447)	Moczygemba C.... Bhattacharjee M.	2005
34	Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change. (15930909)	McCann E.... Kokai G.	2005
35	Plexiform neurofibroma of the oesophagus: a mimicker of malignancy. (16352584)	Ganeshan A.... De'Costa H.	2005
36	Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain. (15519868)	Kretschmer T.... Kline D.G.	2004
37	A solitary laryngeal neurofibroma ina pediatric patient. (15754784)	Chen Y.W.... Li H.Y.	2004
38	Clinics in diagnostic imaging (76). Left extradural-intradural lumbar neurofibroma. (12507033)	Tsui E.Y.... Htoo M.M.	2002
39	A rare case of a facial-nerve neurofibroma in the parotid gland. (12550128)	Kosaka M.... Kamiishi H.	2002
40	Neurofibroma and schwannoma. (12447105)	Ferner R.E.... O'Doherty M.J.	2002
41	Plexiform neurofibroma during and after pregnancy. (12410373)	Isikoglu M.... Bebek N.	2002
42	Perineurial cell differentiation in neurofibromas. Report of eight cases including a case with composite perineurioma-neurofibroma features. (11518046)	Zamecnik M.... Michal M.	2001
43	Pigmented (melanotic) neurofibroma: a clinicopathologic and immunohistochemical analysis of 19 lesions from 17 patients. (10716146)	Fetsch J.F.... Miettinen M.	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)	Feigenbaum L.... Jay G.	1996
45	Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. (7585653)	Ottini L.... Calvieri S.	1995
46	Pelvic plexiform neurofibroma--an obstetric dilemma. (7904957)	Saha S.C.... Malhotra S.	1993
47	Syndrome of inappropriate antidiuretic hormone secretion in a patient with intrasellar neurofibroma of the sixth nerve. (1957525)	Char G.... Lyn C.	1991
48	Pulsating orbital plexiform neurofibroma and optic nerve glioma. (2791937)	Binitie O.P.... Obikili A.G.	1989
49	Plexiform (multinodular) schwannoma. A tumor simulating the plexiform neurofibroma. (6638259)	Woodruff J.M.... Erlandson R.A.	1983
50	Ultrasonography of a plexiform neurofibroma of the popliteal fossa. (6820385)	Reuter K.L.... Akins C.M.	1982

Genes related to Neurofibroma

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Neurofibroma:

- Elite gene

id	Symbol	Description	Score	Implication
1	NF1	neurofibromin 1	21.14	GeneCards inferred via : Publications, Disorders (show sections)
2	S100B	S100 calcium binding protein B	18.88	GeneCards inferred via : Publications, Disorders (show sections)
3	NF2	neurofibromin 2 (merlin)	16.66	GeneCards inferred via : Publications, Disorders (show sections)
4	MMP13	matrix metallopeptidase 13 (collagenase 3)	14.44	GeneCards inferred via : Publications, Disorders (show sections)
5	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	12.21	GeneCards inferred via : Publications, Disorders (show sections)
6	TP73	tumor protein p73	9.99	GeneCards inferred via : Publications, Disorders (show sections)
7	APOD	apolipoprotein D	7.74	GeneCards inferred via : Publications, Disorders (show sections)
8	GLI1	GLI family zinc finger 1	5.52	GeneCards inferred via : Publications (show sections)
9	SOX10	SRY (sex determining region Y)-box 10	3.29	GeneCards inferred via : Disorders (show sections)

Products for genes related to Neurofibroma disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	9	-	9	9
2	Novus Biologicals	8	8	9	-

Variations for Neurofibroma

Expression for genes affiliated with Neurofibroma

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵²QIAGEN, ⁵⁹Thomson Reuters
See all sources

Pathways related to Neurofibroma according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	ATF-2 transcription factor network³⁷	9.7	NF1, PDGFRA
2	Glioblastoma Multiforme⁵²	9.3	NF1, NF2, PDGFRA
3	Development Hedgehog and PTH signaling pathways in bone and cartilage development⁵⁹	9.2	GLI1, MMP13

Compounds for genes affiliated with Neurofibroma

Sources:
⁴⁴Novoseek, ²⁹IUPHAR, ⁶⁰Tocris Bioscience, ³BitterDB, ¹²DrugBank, ⁵⁰PharmGKB, ²⁵HMDB
See all sources

Compounds related to Neurofibroma according to GeneCards/GeneDecks:

(show all 22)

id	Compound	Score	Top Affiliating Genes
1	ccl4⁴⁴ ²⁹	10.9	S100B, MMP13
2	hydroxyapatite⁴⁴	9.7	S100B, MMP13
3	colchicine⁴⁴ ⁶⁰ ³ ²⁹ ¹²	13.7	NF1, S100B
4	cyanogen bromide⁴⁴	9.7	MMP13, APOD
5	tetracycline⁴⁴ ¹²	10.5	MMP13, TP73
6	rapamycin⁴⁴	9.5	NF1, NF2, PDGFRA
7	imatinib⁴⁴ ⁵⁰ ¹²	11.4	TP73, PDGFRA, S100B
8	agarose⁴⁴	9.4	S100B, MMP13, APOD
9	thymidine⁴⁴ ²⁵	10.3	MMP13, PDGFRA, S100B
10	cysteine⁴⁴	9.2	MMP13, S100B, NF2, NF1
11	cyclic amp⁴⁴ ²⁵	10.1	MMP13, S100B, NF1
12	vegf⁴⁴	9.0	S100B, PDGFRA, MMP13, TP73
13	fatty acid⁴⁴	9.0	APOD, TP73, S100B, NF1
14	lipid⁴⁴	8.8	NF1, S100B, TP73, APOD
15	phosphatidylinositol⁴⁴	8.7	MMP13, PDGFRA, NF1, GLI1
16	progesterone⁴⁴ ²⁹ ⁶⁰ ²⁵ ¹²	12.6	APOD, TP73, S100B, NF2, NF1
17	zinc⁴⁴ ²⁵	9.6	TP73, MMP13, S100B, GLI1
18	oligonucleotide⁴⁴	8.5	APOD, TP73, MMP13, PDGFRA, NF1
19	tyrosine⁴⁴	8.4	TP73, MMP13, PDGFRA, S100B, NF2, NF1
20	estrogen⁴⁴	8.1	APOD, TP73, MMP13, PDGFRA, S100B, NF1
21	retinoic acid⁴⁴ ²⁵	9.1	APOD, TP73, MMP13, PDGFRA, S100B, NF1
22	paraffin⁴⁴	7.8	NF1, APOD, TP73, MMP13, PDGFRA, S100B

GO Terms for genes affiliated with Neurofibroma

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Neurofibroma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	perinuclear region of cytoplasm	GO:048471	9.1	NF2, S100B, APOD
2	nucleus	GO:005634	6.8	GLI1, TP73, SOX10, PDGFRA, S100B, NF2

Biological processes related to Neurofibroma according to GeneCards/GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell-matrix adhesion	GO:001953	10.1	NF1, NF2
2	negative regulation of MAPK cascade	GO:043409	10.1	NF1, NF2
3	adrenal gland development	GO:030325	10.0	PDGFRA, NF1
4	negative regulation of protein kinase activity	GO:006469	9.9	NF1, NF2
5	peripheral nervous system development	GO:007422	9.9	NF1, SOX10
6	odontogenesis of dentin-containing tooth	GO:042475	9.8	NF2, PDGFRA
7	wound healing	GO:042060	9.7	NF1, PDGFRA
8	negative regulation of cell migration	GO:030336	9.7	NF1, NF2
9	positive regulation of apoptotic process	GO:043065	9.5	NF1, S100B, TP73
10	osteoblast differentiation	GO:001649	9.5	GLI1, NF1
11	extracellular matrix organization	GO:030198	9.5	MMP13, PDGFRA, NF1
12	positive regulation of DNA replication	GO:045740	9.4	GLI1, PDGFRA
13	negative regulation of canonical Wnt signaling pathway	GO:090090	9.1	GLI1, SOX10
14	positive regulation of cell proliferation	GO:008284	8.9	PDGFRA, S100B, GLI1
15	digestive tract morphogenesis	GO:048546	8.9	GLI1, SOX10, TP73
16	lung development	GO:030324	8.9	GLI1, PDGFRA

Molecular functions related to Neurofibroma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	9.1	SOX10, GLI1
2	identical protein binding	GO:042802	8.8	S100B, SOX10, TP73
3	chromatin binding	GO:003682	8.5	GLI1, TP73, SOX10
4	protein binding	GO:005515	6.5	S100B, APOD, TP73, SOX10, PDGFRA, GLI1