Summaries for Neurofibromatosis

Sources:
30NIH Rare Diseases, 23MedlinePlus, 31NINDS, 15GeneReviews, 44Wikipedia, 33OMIM, 22MalaCards
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NIH Rare Diseases: Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. There are three types of neurofibromatosis: Neurofibromatosis type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. Neurofibromatosis type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years. Schwannomatosis causes intense pain. It is the rarest type. Neurofibromatosis can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells. NF is considered an autosomal dominant disorder.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.30

MalaCards: Neurofibromatosis, also known as bilateral acoustic neurofibromatosis, is related to neuroma and t-cell leukemia. An important gene associated with Neurofibromatosis is NF1 (neurofibromin 1), and among its related pathways are Pancreatic cancer and Renal cell carcinoma. The compounds phenylalanine and dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and spinal cord, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

MedlinePlus: Neurofibromatosis is a genetic disorder of the nervous system. it mainly affects how nerve cells form and grow. it causes tumors to grow on nerves. you can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. once you have it, you can pass it along to your children. there are three types of neurofibromatosis: type 1 (nf1) causes skin changes and deformed bones and usually starts at birth. type 2 (nf2) causes hearing loss, ringing in the ears and poor balance. it often starts in the teen years. schwannomatosis causes intense pain. it is the rarest type. there is no cure. treatment is aimed at controlling symptoms. depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines. nih: national institute of neurological disorders and stroke23

NINDS: The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. 31

Genetics Home Reference: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition.17

Wikipedia: Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen...44 more...

OMIM: 162200

GeneReviews summary for nf1

GeneReviews summary for nf2

Aliases & Descriptions for Neurofibromatosis

Sources:
6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 43UMLS, 24MeSH, 27NCIt, 40SNOMED-CT, 19ICD9CM
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Aliases & Descriptions:

neurofibromatosis 6 7 44 30 17 31 8 32 23
bilateral acoustic neurofibromatosis 44 15 30 16 17
von recklinghausen disease 44 15 30 16 17
peripheral neurofibromatosis 6 44 16 17
neurofibromatosis type 2 6 30 17 32
neurofibromatosis type 1 6 30 17 32
nf2 15 30 16 17
nf1 15 30 16 17
central neurofibromatosis 6 15 17
neurofibromatosis type ii 44 15 30
neurofibromatosis 2 15 16 43
neurofibromatosis 1 6 15 43
banf 44 16 17
von recklinghausen's neurofibromatosis 15 16
schwannoma, acoustic, bilateral 44 17
neurofibromatosis central type 30 16
acoustic schwannomas bilateral 30 16
recklinghausen disease, nerve 44 17
familial acoustic neuromas 17 43
type 1 neurofibromatosis 30 16
neurofibromatosis type 4 6 30
acoustic neuroma 17 43
vestibular schwannoma neurofibromatosis 16
type iv neurofibromatosis of riccardi 6
neurofibromatosis type 4 of riccardi 30
recklinghausen's neurofibromatosis 6
acoustic neurinoma bilateral 30
von recklinghausen's disease 31
neurofibromatosis, atypical 30
multiple neurofibromatosis 44
acoustic neurofibromatosis 6
von reklinghausen disease 6
familial acoustic neuroma 44
neurofibromatosis, type 2 33
neurofibromatosis, type 1 33
neurofibromatosis type iv 6
recklinghausen's disease 30
neurofibromatosis type i 44
neurofibromatoses 43
neurilemmoma 43
nf 2 16
nf 1 16

Related Diseases for Neurofibromatosis

Sources:
13GeneCards, 14GeneDecks
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Disease types for neurofibromatosis family:

neurofibromatosis type 3a neurofibromatosis type 3b
neurofibromatosis type 5 neurofibromatosis type 6

Diseases related to neurofibromatosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 895)
idRelated DiseaseScoreTop Affiliating Genes
1neuroma35.4RET, RDX, VHL, S100B, B2M, MSH2
2t-cell leukemia33.4MYC, RAF1, BLZF1, CDK2, CDK4, CCND3
3malignant peripheral nerve sheath tumor32.4KIT, VIM, S100B, CDKN2B, CDKN2A, CD34
4plexiform neurofibroma31.3MMP13, NF1, PDGFRA
5noonan syndrome31.3RAF1, MAPK1, IGFBP3, HRAS, GHR, PTPN11
6ovarian cancer30.9BRCA1, BRCA2, CDK2, CDKN2B, CDKN2A, CDK4
7somatostatinoma30.5CHGA, MEN1, ENO2, SST, SSTR2, ACTC1
8neurofibroma30.5KIT, KITLG, VIM, VEGFA, RASA2, UTP6
9acute lymphoblastic leukemia30.4RECK, KIT, KITLG, RAN, MSH2, CDK2
10colorectal cancer30.3MSH2, MLH1, HRAS, TP53, CYP2D6, TGFB1
11human t-cell leukemia virus type 130.3MYC, RAN, BLZF1, CDK2, CDK4, CD44
12burkitt's lymphoma30.2MYC, CDK4, CD44, CCND3, EZR, PTPN11
13myeloproliferative disorder30.2KIT, KITLG, RAP1A, RAN, HRAS, PTPN11
14chronic myelomonocytic leukemia30.0KIT, KITLG, PTPN11, NF1, PDGFRA, RUNX1
15perineurioma29.8KIT, VIM, B3GAT1, S100B, CD34, NF2
16multiple endocrine neoplasia type 2a29.7RET, VHL, NF1, ACTC1, GDNF
17pancreatic cancer29.7RET, BRCA2, VEGFA, RAF1, RAN, RAC1
18sotos syndrome29.5LRRC37B, ATAD5, IGFBP3, TEFM, CRLF3, NF1
19microphthalmia29.4KIT, S100B, MAPK10, MAPK1, GJA1, SMARCA4
20multiple endocrine neoplasia29.4RET, BRCA1, BRCA2, VHL, SDHB, SDHC
21b-cell lymphomas29.3MYC, BLZF1, CDK2, CDKN2B, CDKN2A, CDK4
22optic nerve glioma29.1FABP7, TNFRSF11B, NES
23pulmonic stenosis29.0RAF1, HRAS, PTPN11, NF1, KRAS
24spindle cell sarcoma28.9VIM, S100B, ACTC1, DES
25hypercalcemia28.9VIM, CHGA, B2M, MEN1, IL6, TNFRSF11B
26hemimegalencephaly28.9MYC, PTEN, CREB1, TSC2, PSMC4, WISP1
27meninges hemangiopericytoma28.8VIM, IGFBP3, NF2, DES, EPB41L3
28non-hodgkin lymphoma28.8KITLG, MYC, B2M, MSH2, CDKN2B, CD34
29cafe-au-lait spots28.8KITLG, MSH2, MSH6, MLH1, PTPN11, NF1
30brain cancer28.7CD44, GJA1, EGFR, PMS2
31leopard syndrome28.6RAF1, HRAS, AKT1, PTPN11, NF1, ACP1
32oligodendroglioma28.6CDKN2B, CDKN2A, PTEN, EGFR, GFAP
33ganglioneuroma28.6RET, VHL, CHGA, S100B, CD44, ENO2
34acoustic neuroma28.6VHL, B2M, MSH2, MKI67, IL6, SST
35carney triad28.6KIT, SDHB, SDHC, SDHD, PDGFRA, PDPN
36juvenile myelomonocytic leukemia28.5RASA2, RAF1, RASA1, HRAS, TP53, PTEN
37fibrous meningioma28.4S100B, NF2, DES
38prostate carcinoma28.4BRCA2, VEGFA, RASA2, ERBB2, TP53, TERT
39parkinson's disease28.4BLVRB, BLZF1, FMR1, APP, AKT1, CYP2D6
40muscular dystrophy28.3SGCG, VIM, VEGFA, VCL, CELF1, APP
41short stature28.3RAF1, SDC2, MMP13, FMR1, IGF1R, IGFBP3
42anaplastic ependymoma28.2S100B, PTEN, NF2, GFAP
43vaccinia28.1KIF5B, KITLG, VCL, RAN, S100B, MAPK1
44myelodysplastic syndrome28.1KIT, KITLG, RAP1A, RAN, CDKN2B, CD34
45atypical neurofibroma28.1CD34, NF1, PDPN
46glomus tumor28.1VIM, VHL, SDHB, SDHD, S100B, CDKN2B
47cystic fibrosis28.1RECK, BRCA1, VEGFA, MSN, AREG, GSN
48neuroendocrine tumor27.9RET, RAF1, SDHD, CHGA, MKI67, MEN1
49cellular schwannoma27.9VIM, S100B, NF1, NF2, GFAP
50influenza27.9RECK, RAF1, BLZF1, PAK1, B2M, IL6

Graphical network of the top 20 diseases related to neurofibromatosis:



Graphical network of diseases related to neurofibromatosis

Clinical Features for Neurofibromatosis

Sources:
33OMIM
See all sources
Clinical features from OMIM: 162200

Drugs & Therapeutics for Neurofibromatosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for neurofibromatosis

Drug clinical trials:

Search ClinicalTrials for neurofibromatosis

Search NIH Clinical Center for neurofibromatosis

Search CenterWatch for neurofibromatosis

Genetic Tests for Neurofibromatosis

Sources:
16GeneTests
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Genetic tests related to neurofibromatosis:

id Genetic test Affiliating Genes
1 Neurofibromatosis
clinical/research
NF1, NF2

Anatomical Context for Neurofibromatosis

Sources:
22MalaCards
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MalaCards organs/tissues related to neurofibromatosis:

22
Brain, Skin, Spinal cord, Bone marrow, Whole blood, Smooth muscle, Small intestine, Adrenal gland, Breast, Myeloid, T cells, B cells, Endothelial, Fetal brain, Pituitary

Phenotypes for genes affiliated with Neurofibromatosis

Sources:
25MGI
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MGI Mouse Phenotypes related to neurofibromatosis:

25 (show all 29)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1endocrine/exocrine gland phenotypeMP:000537910.7RET, KIF5B, BRCA1, BRCA2, YAP1, CELF1
2respiratory system phenotypeMP:000538810.5SH3BP2, RET, BRCA1, GSN, ICAM2, CASK
3craniofacial phenotypeMP:000538210.4SH3BP2, KIT, KITLG, RASA1, MEN1, MAP3K11
4hematopoietic system phenotypeMP:000539710.0SH3BP2, KIT, BRCA1, BRCA2, VHL, RAP1A
5other phenotypeMP:00053959.9RECK, CDKN2A, APP, GJA1, DLK1, SPP1
6renal/urinary system phenotypeMP:00053679.6RET, KIT, BRCA1, VHL, CHGA, CDKN2B
7hearing/vestibular/ear phenotypeMP:00053779.6KIT, KITLG, RDX, MYC, RASA1, MDK
8limbs/digits/tail phenotypeMP:00053719.2RECK, RET, KIT, KITLG, BRCA1, BRCA2
9normal phenotypeMP:00028739.1RET, BRCA1, BRCA2, VHL, VEGFA, MYC
10embryogenesis phenotypeMP:00053809.1RECK, RET, KIT, KIF5B, VIM, BRCA1
11pigmentation phenotypeMP:00011868.3KIT, KITLG, BRCA1, MYC, RAC1, CDKN2A
12behavior/neurological phenotypeMP:00053868.2SGCG, KIT, RDX, VIM, VIPR2, BRCA2
13liver/biliary system phenotypeMP:00053708.1SH3BP2, RECK, KIT, RDX, VHL, VEGFA
14no phenotypic analysisMP:00030127.8RET, VEGFA, MYC, RASA1, CD44, APP
15reproductive system phenotypeMP:00053897.7RET, VIPR2, BRCA1, BRCA2, VHL, VEGFA
16nervous system phenotypeMP:00036317.6SH3BP2, RECK, KIT, KITLG, RDX, BRCA1
17digestive/alimentary phenotypeMP:00053817.6SH3BP2, RET, KIT, KITLG, BRCA1, BRCA2
18integument phenotypeMP:00107717.4SH3BP2, RECK, KIT, KITLG, BRCA1, BRCA2
19immune system phenotypeMP:00053877.2KIT, VIM, VIPR2, BRCA1, BRCA2, RAP1A
20adipose tissue phenotypeMP:00053756.7VIPR2, BRCA1, MYC, IL6, IGF1R, IGFBP3
21tumorigenesisMP:00020066.5RET, KIT, KITLG, BRCA1, BRCA2, VHL
22vision/eye phenotypeMP:00053916.2SH3BP2, KIT, KITLG, VIM, VEGFA, RAF1
23skeleton phenotypeMP:00053906.2SH3BP2, RECK, SGCG, KIT, KITLG, BRCA1
24mortality/agingMP:00107685.5SH3BP2, RECK, RET, SGCG, KIF5B, KITLG
25growth/size phenotypeMP:00053785.3RECK, RET, SGCG, KIT, KIF5B, KITLG
26muscle phenotypeMP:00053694.7SH3BP2, RET, SGCG, KIT, VIM, BRCA1
27cellular phenotypeMP:00053844.2SH3BP2, RET, SGCG, KIT, KIF5B, KITLG
28cardiovascular system phenotypeMP:00053853.5RECK, RET, SGCG, KIT, KITLG, VIM
29homeostasis/metabolism phenotypeMP:00053762.6SH3BP2, RET, SGCG, KIT, KIF5B, KITLG

Publications for genes affiliated with Neurofibromatosis

Sources:
35PubMed
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Articles related to neurofibromatosis:

(show top 50)    (show all 468)
idTitleAuthorsYearAffiliating Genes
1NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. (20513137)Pasmant E.... Vidaud D.2010NF1
2The course of cognitive-behavioral development in chi ldren with the FMR1 mutation, Williams-Beuren syndrome, and neurofibromatosis t ype 1: The effect of gender. (20503326)Fisch G.S.... Simensen R.2010FMR1
3A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case r eport from Thailand. (19839503)Luangwedchakarn V.... Fleisher T.A.2009IL12RB1
4Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1. (19414372)Fang Y.... Jhanwar S.C.2009NF1
5Neurofibromatosis 2 [Bilateral acoustic neurofibromat osis, central neurofibromatosis, NF2, neurofibromatosis type II]. (19652604)Evans D.G.2009NF2
6Tranilast, an anti-allergic drug, down-regulates the growth of cultured neurofibroma cells derived from neurofibromatosis type 1. (19282654)Yamamoto M.... Yamamoto Y.2009TGFB1, KITLG, AREG
7Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. (18670066)L/aniewski-Wol/l/k M.... Szpecht-Potocka A.2008NF2
8Neurofibromatosis: novel and recurrent mutations in Turkish patients. (18021924)Terzi Y.K.... Ayter S.2007NF1
9Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. (18063929)Petrak B.... Marikova T.2007NF1
10Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1. (17209131)Stewart D.R.... Brooks D.G.2007PDGFRA, KIT
11Treatment of schwannomas with an oncolytic recombinant herpes simplex virus in murine models of neurofibromatosis type 2. (16409122)Messerli S.M.... Breakefield X.O.2006NF2
12Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons. (17114577)Walker J.A.... Bernards A.2006NF1
13The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. (16479075)Jeong S.Y.... Kim H.J.2006NF1
14Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. (14694524)Kinoshita K.... Matsuzawa Y.2004KIT
15Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. (14722917)Upadhyaya M.... Cooper D.N.2004CDKN2A
16HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. (15139004)Raevaara T.E.... Nystroem-Lahti M.2004MLH1
17NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. (13680360)Colapietro P.... Larizza L.2003NF1, SRSF2
18Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. (12077339)Bajenaru M.L.... Gutmann D.H.2002NF1
19Localization of the 17q breakpoint of a constitutiona l 1;17 translocation in a patient with neuroblastoma within a 25-kb segment loc ated between the ACCN1 and TLK2 genes and near the distal breakpoints of two mi crodeletions in neurofibromatosis type 1 patients. (12203774)Van Roy N.... Speleman F.2002AA06
20C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. (11727199)Mukhopadhyay D.... Davidson N.O.2002NF1, APOB, APOBEC1
21Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses. (11359370)Abdel-Wanis M.E.... Kawahara N.2001NF1
22Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). (11391665)Ruggieri M.2001NF2
23Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus. (10720287)Sainio M.... CarpAcn O.2000NF2
24Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. (9927033)Ricciardone M.D.... OztA1rk M.1999MLH1
25Fetal antigen 1, a member of the epidermal growth factor superfamily, in neurofibromas and serum from patients with neurofibromatosis type 1. (10354070)Jensen C.H.... Rasmussen H.B.1999DLK1
26Mouse tumor model for neurofibromatosis type 1. (10591653)Vogel K.S.... Parada L.F.1999TP53, NF1
27Site-specific DNA methylation in the neurofibromatosis (NF1) promoter interferes with binding of CREB and SP1 transcription factors. (10435592)Mancini D.N.... Rodenhiser D.I.1999CREB1
28A rare combination of pheochromocytoma ans somatostatin-rich neuroendocrine tumor of Vater's papilla (carcinoid) in a patient with von Recklinghausen neurofibromatosis (9577907)Hardt P.D.... Hinrichs B.1998NF1, SST
29Regulation of the neurofibromatosis type 2 tumor suppressor protein, merlin, by adhesion and growth arrest stimuli. (9516485)Shaw R.J.... Jacks T.1998NF2
30Localization and functional domains of the neurofibromatosis type II tumor suppressor, merlin. (9563848)Shaw R.J.... Jacks T.1998RDX
31Neurofibromatosis versus schwannomatosis (9676422)Mautner V.F.... Kluwe L.1998NF1, NF2
32A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. (9529361)Ars E.... Estivill X.1998NF1
33Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. (9862639)Stemmer-Rachamimov A.O.... Louis D.N.1998NF2
34Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. (9003501)Upadhyaya M.... Cooper D.N.1997NF1
35Skin abnormalities in neurofibromatosis 2. (9420538)Mautner V.F.... Gottschalk J.1997NF1
36The neurofibromatosis type I messenger RNA undergoes base- modification RNA editing. (8602361)Skuse G.R.... Smith H.C.1996NF1
37Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase. (8612763)Izawa I.... Saya H.1996NF1
38Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1. (7570581)Suzuki H.... Shibahara S.1995NF1
39The comparison between the growth fraction of bilater al vestibular schwannomas in neurofibromatosis 2 (NF2) and unilateral vestibula r schwannomas using the monoclonal antibody MIB 1. (7668124)Aguiar P.H.... Ostertag H.1995MKI67
40Genomic organization of the neurofibromatosis 1 gene (NF1). (7774960)Li Y.... Viskochil D.1995NF1
41Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton. (7485397)den Bakker M.A.... Zwarthoff E.C.1995NF2, RDX
42Multiple transcripts of the neurofibromatosis type 1 gene in human brain and in brain tumours. (7874833)Takahashi K.... Shibahara S.1994NF1
43Mutational analysis of patients with neurofibromatosis 2. (7913580)MacCollin M.M.... Gusella J.F.1994NF2
44The neurofibromatosis type 2 gene is inactivated in schwannomas. (8162016)Twist E.C.... Rouleau G.A.1994NF2
45Molecular cloning and characterization of alternatively spliced transcripts of the mouse neurofibromatosis 2 gene. (7506121)Hara T.... Kley N.1994NF2
46Ring chromosome 22 and neurofibromatosis. (1424240)Tommerup N.... Petersen G.B.1992NF1
47Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. (1757093)Estivill X.... Ravella A.1991NF1
48The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. (1715669)Skuse G.R.... Rowley P.T.1991NF1
49Type 1 neurofibromatosis gene: correction. (2125369)1990NF1
50Progress toward the isolation and characterization of the genes causing neurofibromatosis. (1669691)Menon A.G.... Seizinger B.R.1990NF1, NF2

Expression for genes affiliated with Neurofibromatosis

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Neurofibromatosis

Pathways for genes affiliated with Neurofibromatosis

Sources:
20KEGG, 10EMD Millipore, 34PharmGKB, 3Cell Signaling Technology, 36QIAGEN, 41Thomson Reuters
See all sources

Pathways related to neurofibromatosis according to GeneDecks:

(show top 50)    (show all 275)
idPathwayScoreTop Affiliating Genes
1Pancreatic cancer2011.0BRCA2
2Renal cell carcinoma2010.8RAP1A, PAK1, RAC1, HRAS, VHL, RAF1
3Translation Regulation activity of EIF4F1010.6PAK1
4EGFR Inhibitor Pathway, Pharmacodynamics3410.6KRAS, HRAS
5Neuroscience310.5DPYSL2, APP, FABP7, FMR1, S100B, VHL
6Colorectal cancer2010.3MSH2, MSH6, TGFB1, RAC1
7Akt Signaling3610.2RAF1, IGF1R, KIT, YAP1, IL12RB1, IL6
8Translation _Regulation of EIF4F activity4110.1TSC2, TSC1, AKT1, HRAS, MAP3K11, RAC1
9Development EPO-induced MAPK pathway1010.0KRAS, EPOR, KIT, KITLG, RAP1A, RAF1
10Development_EPO-induced MAPK pathway4110.0KIT, KITLG, RAP1A, RAF1, RAC1, EPOR
11Development FGFR signaling pathway1010.0SDC2, MAPK10, MAPK1, MAP3K11, HRAS, AKT1
12Development_FGFR signaling pathway4110.0RAF1, CREB1, PTPN11, AKT1, HRAS, MAP3K11
13Paxillin Interactions369.6EGFR, ERBB2, PDGFRA, AREG, PXN, EPHA3
14Development_IGF-1 receptor signaling419.4IGF1R, IGFBP3, HRAS, AKT1, PTEN, TSC1
15Development_EGFR signaling via small GTPases419.4MYC, RAF1, MAPK10, MAPK1, HRAS, ERBB2
16Development IGF-RI signaling109.4CCND3, TSC1, MYC, RAF1, MAPK1, PTEN
17Breast Cancer Regulation by Stathmin1369.3NRP2, IGF1R, MAPK10, PAK1, RAF1, ERBB2
18JNK Pathway369.1MAPK10, IL6, MAP3K11, HRAS, TP53, PDGFRA
1914-3-3 Induced Intracellular Signaling369.0MAPK10, KITLG, RAF1, YAP1, AKT1, AREG
20Rac1 Pathway369.0RAF1, TGFB1, NRP2, PAK1, KITLG, IGF1R
21Development EGFR signaling via small GTPases108.9RAF1, ERBB2, HRAS, MAPK1, KRAS, MAPK10
22Development_EGFR signaling pathway418.9EGFR, HBEGF, STAT3, MYC, ERBB2, HRAS
23Development Neurotrophin family signaling108.9AKT1, RAF1, TP53, RAC1, HRAS, NGFR
24Ras Pathway368.9KIT, RAF1, RASA1, RAP1A, EPHA3, EGFR
25EGF Pathway368.8STAT3, PAK1, MAPK10, RAC1, RAF1, MYC
26Focal adhesion208.8CCND3, MAPK1, MAPK10, PAK1, RAF1, VCL
27Development_Neurotrophin family signaling418.8AKT1, HRAS, MAPK1, MAPK10, RAC1, RAF1
28Glioblastoma Multiforme368.4HRAS, AKT1, TP53, PTEN, NF1, NF2
29Glioma208.4CDKN2A, RAF1, IGF1R, EGFR, KRAS, PDGFRA
30PTEN Pathway368.4PTEN, NRP2, NGFR, PDGFRA, EGFR, PXN
31Melanoma208.4PTEN, EGFR, PDGFRA, TP53, AKT1, HRAS
32ErbB signaling pathway208.3AKT1, ERBB2, MAPK10, KRAS, EGFR, HBEGF
33ILK Signaling368.3MAPK10, MDK, AREG, CDH13, RAC1, VIM
34Chronic myeloid leukemia208.3HRAS, MYC, CDKN2A, CDK4, MAPK1, AKT1
35p70S6K Signaling368.3MAPK1, MAPK10, MDK, IL6, TGFB1, IGF1R
36Endometrial cancer208.2EGFR, MYC, RAF1, MLH1, MAPK1, HRAS
37Renin-Angiotensin Pathway368.2STAT3, MAPK10, MAPK1, CCL7, IGF1R, HRAS
38Prostate cancer208.1PTEN, AKT1, RAF1, CDK2, KRAS, MAPK1
39MAPK signaling pathway208.1MAPK1, EGFR, TGFB1, KRAS, RASA2, RAF1
40GPCR Pathway367.9MAPK10, CREB1, IGF1R, MAPK1, AREG, RAP1A
41Estrogen Pathway367.8ERBB2, BRCA1, EPOR, RAF1, PRKAR1A, TGFB1
42ERK Signaling367.8AREG, IL6, PAK1, RAP1A, KITLG, MYC
43Bladder cancer207.7CDK4, MYC, VEGFA, KRAS, TP53, HRAS
44JAK-STAT Pathway367.6EPHA3, KIT, AKT1, HRAS, IGF1R, STAT3
45Telomerase Components in Cell Signaling367.6KIT, TGFB1, MYC, AREG, IL6, MDK
46Rho Family GTPases367.2IL6, EPOR, KIT, PDGFRA, SPP1, TNC
47Molecular Mechanisms of Cancer366.7BRCA1, CCL7, IGF1R, HRAS, AKT1, TP53
48Pancreatic Adenocarcinoma366.6TP53, ERBB2, AKT1, IGF1R, CCND3, MAPK1
49MAPK Signaling366.5IL6, ERBB2, HRAS, IGF1R, MAP3K11, MAPK1
50Pathways in cancer206.1MAPK10, CDK4, CDKN2B, CDK2, MSH2, RAC1

Compounds for genes affiliated with Neurofibromatosis

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
See all sources

Compounds related to neurofibromatosis according to GeneDecks:

(show top 50)    (show all 313)
idCompoundScoreTop Affiliating Genes
1phenylalanine32 10.9RASA2, RASA1, BLZF1, PXN, SOAT1, GALK1
2dopamine32 9 18 9 13.3RET, RAF1, BLVRB, SDHB, S100B, CDKN2A
3glucose32 10.2KIT, VHL, VCL, BLVRB, PAK1, S100B
4gtp32 10.1RECK, RDX, RAP1A, RASA2, RASA3, RAF1
5leucine32 9.7RECK, RET, KIT, VIM, MYC, RAC1
6superoxide32 18 10.7KITLG, RAP1A, RAN, RAC1, BLVRB, BLZF1
7nitric oxide32 9 18 9 12.5KIT, KITLG, VHL, VCL, RAP1A, BLVRB
8atp32 9.4RECK, RET, KIT, KIF5B, BRCA1, VCL
9hematoxylin32 9.4KIT, VIM, BLVRB, CHGA, S100B, CDKN2A
10arginine32 9.4RECK, RET, RAP1A, RAN, RAC1, RASA1
11aspartate32 9.3RET, VIM, RAF1, SDHB, S100B, B2M
12iron32 18 10.3RECK, KITLG, VIM, VHL, BLVRB, BLZF1
13hyaluronic acid32 18 10.3RDX, VIM, MYC, RAC1, B2M, MSN
14agar32 9.2RET, KITLG, VIM, BRCA1, RAP1A, RAC1
15cysteine32 9.2RECK, BRCA1, VCL, RAF1, RAN, RAC1
16cytochalasin d32 42 10.2KITLG, VIM, VCL, RAF1, RAC1, PAK1
17choline32 9 18 9 12.1RET, VIM, RAF1, BLVRB, S100B, APOB
18bromodeoxyuridine32 9.0KITLG, VIM, MYC, CHGA, S100B, CDK2
19proline32 9.0VIM, BRCA1, BRCA2, VHL, VCL, RAC1
20acetylcholine32 9 18 9 12.0VIM, VCL, RAF1, RAC1, BLVRB, BLZF1
21glycogen32 18 9.9KIT, VIM, VHL, MYC, SDHB, CHGA
2212-o-tetradecanoylphorbol 13-acetate32 8.8RET, VCL, MYC, RAP1A, RAF1, CD34
23sb 20358032 42 9.7VIM, VEGFA, RAC1, CDK4, MMP13, AREG
24wortmannin32 42 9.6RET, KITLG, VIM, VCL, RAF1, RAC1
25oxygen32 18 9.5KITLG, BRCA1, RAP1A, RAN, RAC1, BLVRB
26phosphotyrosine32 8.5RECK, RET, KIT, RDX, BRCA1, VCL
27cholesterol32 9 18 9 11.3RECK, KITLG, RAC1, BLZF1, SDHB, SDHC
28estrogen32 8.3RDX, BRCA1, BRCA2, VHL, RAF1, PAK1
29phosphoinositide32 8.2KIT, VIM, VCL, RAP1A, RAF1, RAC1
30calcium32 9 18 9 11.2RECK, KIT, KITLG, RDX, BRCA1, VHL
31herbimycin a32 42 9.0RET, KITLG, MYC, RAF1, CDK2, CDK4
32glutamate32 7.9VIM, BLVRB, BLZF1, PAK1, SDCBP, SDHB
33alanine32 7.9RET, KITLG, BRCA1, MYC, RAF1, RASA1
34lipid32 7.9RECK, RET, KIF5B, KITLG, RDX, VIM
35matrigel32 7.7VIM, BRCA2, VEGFA, VCL, RAC1, CHGA
36n acetylcysteine32 7.7RAF1, CDKN2A, CDK4, FOSL2, AREG, MAPK10
37glutamine32 7.7KIT, VIM, BRCA1, BRCA2, VCL, RAP1A
38creatinine32 7.2KITLG, VIM, SDHB, CHGA, S100B, B2M
39imatinib32 34 9 9 10.0RET, KIT, KITLG, VEGFA, MYC, RAF1
40pd 98,05932 6.8RECK, RET, KIT, KITLG, MYC, RAF1
41retinoic acid32 42 18 8.8RET, KIT, KITLG, BRCA1, BRCA2, MYC
425fluorouracil32 6.5KIT, KITLG, BRCA1, VEGFA, MSH2, CDK2
43butyrate32 6.5RET, KITLG, VIM, MYC, RAF1, BLZF1
44thymidine32 18 7.1KIT, KITLG, BRCA1, BRCA2, MYC, RAF1
45actinomycin d32 6.1KIT, KITLG, VIM, VHL, VEGFA, MYC
46paraffin32 5.7RET, KIT, KITLG, VIM, BRCA1, BRCA2
47genistein32 9 18 9 8.6RET, KITLG, VIM, BRCA1, BRCA2, VEGFA
48testosterone32 9 18 9 8.6RET, KIT, KITLG, VIM, BRCA1, BRCA2
49tamoxifen32 34 9 9 8.2VIM, BRCA1, BRCA2, VEGFA, MYC, RAF1
50curcumin32 5.1VEGFA, MYC, RAF1, CDK2, CDK4, MMP13

GO Terms for genes affiliated with Neurofibromatosis

Sources:
12Gene Ontology
See all sources

Cellular components related to neurofibromatosis according to GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1extrinsic to membraneGO:01989810.9EPB41L3, EPB41, NF2, GHR, EZR, MSN
2ruffleGO:00172610.7SLC9A3R1, PDPN, EZR, GSN, S100B, PAK1
3lamellipodiumGO:03002710.7PXN, TSC1, PDPN, NF2, AKT1, GSN
4mitochondrial respiratory chain complex IIGO:00574910.6SDHB, SDHC, SDHD
5microvillus membraneGO:03152810.6SLC9A3R1, PDPN, EZR, MSN
6filopodium membraneGO:03152710.4GAP43, PDPN, NF2, MSN
7focal adhesionGO:00592510.0PXN, EZR, MAPK1, MSN, SDCBP, PAK1
8perinuclear region of cytoplasmGO:0484719.5SPP1, NF2, EGFR, TSC2, CX3CR1, GAPDH
9axonGO:0304249.4NF1, TGFB1, NEFH, GAP43, NOV, NRP2
10protein complexGO:0432349.1TSC1, TOP2A, DPYSL2, SYP, PRKAR1A, SOX9
11nucleolusGO:0057308.4CREB1, SMARCB1, SPTBN1, SPRED1, TBL1XR1, TERT
12plasma membraneGO:0058867.9SPTBN1, NRP2, NGFR, NF2, PDGFRA, SPRED1
13nucleoplasmGO:0056547.6AKT1, TP53, TERT, TBL1XR1, SRSF2, SMARCB1
14extracellular spaceGO:0056157.5SPP1, SST, DLK1, TNXB, TNFRSF11B, EGFR
15extracellular regionGO:0055767.5SPP1, SST, CYR61, TNFRSF11B, TNC, NOV
16cytosolGO:0058297.3KRT14, RHOD, RNF135, NGFR, SPTBN1, PTPN11
17cytoplasmGO:0057376.0GAPDH, KRT14, PDGFRA, RNF135, NF2, NF1
18nucleusGO:0056345.5CRYBA1, NLK, NF1, NF2, NFIC, NFIX

Biological processes related to neurofibromatosis according to GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:00195310.9NF2, NF1, CASK, CDKN2A, RASA1
2actin cytoskeleton organizationGO:03003610.8EPB41, SLC9A3R1, SHROOM3, KRAS, NF2, NF1
3activation of MAPKK activityGO:00018610.8RAF1
4negative regulation of cell migrationGO:03033610.7SLC9A3R1, CX3CR1, NF2, NF1, PTEN, GTPBP4
5hemopoiesisGO:03009710.6RUNX1, MEN1, CD34, BRCA2, KITLG, KIT
6protein stabilizationGO:05082110.5GAPDH, TSC1, CREB1, PTEN, GTPBP4, CDKN2A
7insulin-like growth factor receptor signaling pathwayGO:04800910.4TSC2, GHR, AKT1, IGF1R
8fibroblast growth factor receptor signaling pathwayGO:00854310.3CREB1, KRAS, TSC2, PRKAR1A, PTPN11, PTEN
9extracellular matrix organizationGO:03019810.3SOX9, GFAP, NF1, SMARCA4, CYR61, TNFRSF11B
10wound healingGO:04206010.3PDGFRA, NF1, ERBB2, SDC2, PAK1, RAF1
11heart developmentGO:00750710.2GJA1, ERBB2, PTEN, NRP2, NF1, TSC2
12insulin receptor signaling pathwayGO:00828610.2TSC2, TSC1, KRAS, PTPN11, AKT1, HRAS
13phosphatidylinositol-mediated signalingGO:04801510.1TOP2A, TSC2, PDGFRA, CREB1, PTEN, ERBB2
14protein kinase B signaling cascadeGO:04349110.1SOX9, TGFB1, TSC2, PTEN, AKT1
15nerve growth factor receptor signaling pathwayGO:04801110.1NGFR, KRAS, TSC2, STAT3, PRKAR1A, OMG
16response to woundingGO:00961110.1GAP43, CX3CR1, TGFB1, GFAP, NGFR, TNC
17positive regulation of fibroblast proliferationGO:04814610.0CDK4, FOSL2, NGFR, PDGFRA, EGFR, MYC
18cell adhesionGO:00715510.0PXN, OMG, CX3CR1, WISP1, WISP2, EPHA3
19response to estradiol stimulusGO:0323559.9OXT, STAT3, DHH, TGFB1, GHR, ENO2
20positive regulation of DNA replicationGO:0457409.8KITLG, IGF1R, HRAS, PDGFRA, EGFR
21lamellipodium assemblyGO:0300329.7CDH13, RAC1, VCL, KIT
22protein autophosphorylationGO:0467779.7EGFR, PDGFRA, NLK, ERBB2, AKT1, IGF1R
23response to gamma radiationGO:0103329.7TP53, APOBEC1, MEN1, MYC, BRCA2
24axon guidanceGO:0074119.6NRP2, CREB1, NGFR, KRAS, EGFR, DPYSL2
25positive regulation of protein phosphorylationGO:0019349.6SOX9, TGFB1, KRAS, CYR61, ERBB2, AKT1
26positive regulation of peptidyl-serine phosphorylationGO:0331389.6TGFB1, AKT1, IL6, CD44, PAK1, RAF1
27response to drugGO:0424939.6CREB1, ACTC1, TOP2A, TGFB1, DPYSL2, STAT3
28Ras protein signal transductionGO:0072659.4KRAS, NF1, TP53, HRAS, MAPK1, CDKN2A
29MAPK cascadeGO:0001659.3TGFB1, EGFR, KRAS, NF1, HRAS, MAPK1
30cell cycle arrestGO:0070509.2TGFB1, MYC, MSH2, CDKN2B, CDKN2A, MEN1
31positive regulation of cell cycle arrestGO:0711589.2TGFB1, CRLF3, TP53, CDKN2A, BRCA1
32positive regulation of epithelial cell proliferationGO:0506799.1SOX9, TGFB1, EGFR, ERBB2, HRAS, MYC
33epidermal growth factor receptor signaling pathwayGO:0071739.1HBEGF, TSC2, TGFB1, PXN, PRKAR1A, SOX9
34positive regulation of MAP kinase activityGO:0434069.0TGFB1, EGFR, KRAS, ERBB2, VEGFA, KITLG
35positive regulation of cell migrationGO:0303358.8TGFB1, HBEGF, EGFR, PDPN, PDGFRA, CYR61
36cell proliferationGO:0082838.7ERBB2, TP53, PTEN, CYR61, PDPN, EGFR
37negative regulation of cell proliferationGO:0082858.6TP53, PTEN, SST, SSTR2, NF2, TSC1
38apoptotic processGO:0069158.5TP53, TNFRSF11B, PTEN, NGB, NGFR, ACTC1
39signal transductionGO:0071658.4GDNF, EGFR, PDPN, CREB1, TNXB, TNFRSF11B
40platelet activationGO:0301688.1TGFB1, AKT1, MAPK1, APP, IL6, RAC1
41positive regulation of cell proliferationGO:0082848.0PTEN, SUZ12, PDGFRA, KRAS, EGFR, TIAL1
42virus-host interactionGO:0190488.0CX3CR1, STAT3, TGFB1, PDGFRA, CREB1, SMARCB1
43positive regulation of transcription, DNA-dependentGO:0458938.0TP53, TBL1XR1, SMARCA4, CREB1, CRLF3, TGFB1
44negative regulation of apoptotic processGO:0430667.9PTEN, CYR61, EGFR, CX3CR1, SOX9, NES
45blood coagulationGO:0075967.6AKAP1, AKT1, TP53, PTPN11, KRAS, HBG2
46positive regulation of transcription from RNA polymerase II promoterGO:0459447.2SMARCA4, SMARCB1, CREB1, CRLF3, NFIC, NFIX

Molecular functions related to neurofibromatosis according to GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1four-way junction DNA bindingGO:00040010.6MSH2, MSH6, MEN1
2structural constituent of eye lensGO:00521210.5CRYBB3, CRYBB2, CRYBA4, CRYBA1, VIM
3insulin-like growth factor bindingGO:00552010.3WISP2, WISP1, NOV, CYR61, IGFBP3, IGF1R
4structural constituent of cytoskeletonGO:00520010.1EPB41, DES, GFAP, KRT14, SPTBN1, MSN
5protein homodimerization activityGO:0428039.6TERT, CRYBA1, CRYBB2, PDGFRA, TSC2, TOP2A
6transmembrane receptor protein tyrosine kinase activityGO:0047149.5EGFR, PDGFRA, ERBB2, KIT, RET
7heparin bindingGO:0082019.4HBEGF, NRP2, CYR61, TNXB, CCL7, APP
8protein kinase bindingGO:0199019.2STAT3, DPYSL2, SPRED1, PTEN, TP53, GHR
9protein N-terminus bindingGO:0474859.0TGFB1, TSC1, SMARCA4, TBL1XR1, TP53, MEN1
10identical protein bindingGO:0428028.4TP53, CRYBB2, EGFR, SYP, OMG, EPOR
11enzyme bindingGO:0198998.1TP53, PTEN, EGFR, TOP2A, TGFB1, AKT1
12protein heterodimerization activityGO:0469827.1RUNX1, TGFB1, TOP2A, EGFR, TP53, ERBB2
13ATP bindingGO:0055247.1PDGFRA, NLK, SMARCA4, TP53, ERBB2, AKT1
14protein bindingGO:0055153.7CASK, SRSF2, SPRED1, SPTBN1, SMARCA4, SMARCB1

Sources for Neurofibromatosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS