NF1
MCID: NRF002
MIFTS: 100

Neurofibromatosis (NF1) malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Genetic diseases categories

Summaries for Neurofibromatosis

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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. usually the tumors are benign, but sometimes they can become cancerous. there are three types of neurofibromatosis: type 1 (nf1) causes skin changes and deformed bones. it usually starts in childhood. sometimes the symptoms are present at birth. type 2 (nf2) causes hearing loss, ringing in the ears, and poor balance. symptoms often start in the teen years. schwannomatosis causes intense pain. it is the rarest type. doctors diagnose the different types based on the symptoms. genetic testing is also used to diagnose nf1 and nf2. there is no cure. treatment can help control 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 stroke

MalaCards: Neurofibromatosis, also known as von recklinghausen disease, is related to neurofibroma and malignant peripheral nerve sheath tumor, and has symptoms including cafe-au-lait spot, follicular/erythematous/edematous papules/milium and mild visual loss/impaired visual acuity. An important gene associated with Neurofibromatosis is NF1 (neurofibromin 1), and among its related pathways are Development HGF signaling pathway and Signaling by FGFR. The compounds tyrosine and phosphatidylinositol have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and spinal cord, and related mouse phenotypes are homeostasis/metabolism and normal.

Genetics Home Reference:21 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.

NIH Rare Diseases:42 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. mutations in the nf2 gene cause neurofibromatosis type 2. neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. last updated: 6/6/2012

NINDS:43 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.

Wikipedia:63 Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically... more...

Description from OMIM:46 162200,162270,101000,162210,613675

GeneReviews summary for nf1

GeneReviews summary for nf2

Aliases & Classifications for Neurofibromatosis

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
von recklinghausen disease:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable
von recklinghausen disease due to nf1 mutation or intragenic deletion:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

neurofibromatosis 8 63 42 43 10 44 33
von recklinghausen disease 63 19 42 21 48
neurofibromatosis type 1 8 42 21 44 48
neurofibromatosis type 2 8 42 21 44 48
neurofibromatosis 2 19 20 22 21 60
neurofibromatosis 1 8 19 21 48 60
bilateral acoustic neurofibromatosis 63 19 42 21
neurofibromatosis type ii 63 19 42 21
nf1 19 42 21 48
peripheral neurofibromatosis 8 63 21
central neurofibromatosis 8 19 21
type 1 neurofibromatosis 42 20 22
neurofibromatosis type 4 8 42 22
nf2 19 21 48
schwannoma, acoustic, bilateral 63 21
recklinghausen disease, nerve 63 21
familial acoustic neuromas 21 60
familial acoustic neuroma 63 48
neurofibromatosis, type 2 9 46
neurofibromatosis, type 1 9 46
banf 63 21
von recklinghausen disease due to nf1 mutation or intragenic deletion 48
neurofibromatosis type 1 due to nf1mutation or intragenic deletion 48
von recklinghausen's neurofibromatosis 19
type iv neurofibromatosis of riccardi 8
neurofibromatosis type 4 of riccardi 42
recklinghausen's neurofibromatosis 8
acoustic schwannomas bilateral 42
familial vestibular schwannoma 48
neurofibromatosis central type 42
acoustic neurinoma bilateral 42
von recklinghausen's disease 43
familial acoustic neurinoma 48
neurofibromatosis, atypical 42
multiple neurofibromatosis 63
acoustic neurofibromatosis 8
von reklinghausen disease 8
neurofibromatosis type iv 8
neurofibromatosis type i 63
recklinghausen's disease 42
neurofibromatoses 60


External Ids:

Disease Ontology8 DOID:8712
NCIt39 C3273
ICD9CM27 237.71
MESH via Orphanet35 C538607, D009456, D009464 D016518, more
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet57 92824003, 126949007, 92503002
UMLS via Orphanet61 C0027831, C0027832, C0027859

Related Diseases for Neurofibromatosis

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Neurofibromatosis family:

Neurofibromatosis Type 3b Neurofibromatosis Type 3a
Neurofibromatosis Type 5 Neurofibromatosis Type 6

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

(show top 50)    (show all 500)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibroma31.1PDGFRA, NF2, NF1
2malignant peripheral nerve sheath tumor30.9NF1
3plexiform neurofibroma30.9NF1, PDGFRA
4noonan syndrome30.7PTPN11, KRAS, HRAS, NF1
5leukemia30.6PDGFRA, CREB1, NF1, HRAS, RASA2, KRAS
6gastrointestinal stromal tumor30.6PDGFRA, NF2, NF1, SDHB
7pheochromocytoma30.6VHL, CREB1, NF1, RET, SDHD, SDHB
8neurofibrosarcoma30.6NF2, NF1
9astrocytoma30.6VHL, PDGFRA, NF2, NF1, HRAS
10meningioma30.5NF1, NF2
11ganglioneuroma30.5RET
12legius syndrome30.4SPRED1
13acute leukemia30.4PTPN11, KRAS, HRAS, NF1, CREB1
14adenocarcinoma30.3VHL, CREB1, NF2, HRAS, KRAS
15neurofibromatosis-noonan syndrome30.3NF1, PTPN11
16juvenile myelomonocytic leukemia30.2NF1, PTPN11
17phaeochromocytoma30.2RET, SDHD, SDHB
18pancreatitis30.2HRAS, KRAS
19prostate cancer30.2PDGFRA, CREB1, NF2, RASA2, KRAS, PTPN11
20sarcoma30.2PDGFRA, NF2, NF1, HRAS, KRAS
21glomus tumor30.2VHL, SDHD, SDHB
22multiple endocrine neoplasia30.1VHL, NF2, NF1, RET, SDHD, SDHB
23multiple endocrine neoplasia type 2a30.1VHL, NF1, RET, SDHD, SDHB
24colorectal cancer30.1NF2, NF1, HRAS, KRAS
25breast cancer30.1VHL, NF2, NF1, HRAS, RASA1, KRAS
26learning disability30.1NF1
27mental retardation30.1PTPN11, HRAS, NF1, CREB1, VHL
28myelodysplastic syndromes30.1PDGFRA, NF1, KRAS, PTPN11
29hyperparathyroidism30.0SDHB, SDHD, RET, NF1
30neuroendocrine tumor30.0SDHD, RET, NF1, PDGFRA
31leopard syndrome30.0PTPN11, HRAS
32neuroma30.0RET
33melanoma29.9PDGFRA, CREB1, NF2, NF1, HRAS, KRAS
34adenoma29.9VHL, CREB1, RET, HRAS, KRAS
35acoustic neuroma29.9NF1, NF2, VHL
36myeloproliferative disorder29.9PDGFRA, CREB1, NF1, HRAS, PTPN11
37pancreatic cancer29.9KRAS, HRAS, RET
38chronic myelomonocytic leukemia29.9PTPN11, NF1, PDGFRA
39short stature29.9NF1, HRAS, PTPN11
40sotos syndrome29.9RNF135
41endometrial carcinoma29.9KRAS, CREB1
42retinoblastoma29.9KRAS, HRAS, NF1, CREB1, VHL
43malignant glioma29.8VHL, PDGFRA, CREB1, NF2, NF1, HRAS
44von hippel-lindau disease29.8VHL, NF1, RET, SDHD, SDHB
45myeloid leukemia29.8PTPN11, HRAS, NF1, CREB1
46lung cancer29.8KRAS, HRAS
47developmental disabilities29.8PTPN11, HRAS, RET
48neurilemmoma29.8NF1, NF2
49glioblastoma multiforme29.7VHL, PDGFRA, CREB1, NF1, HRAS, PTPN11
50chronic myeloid leukemia29.6PDGFRA, CREB1, NF1, HRAS, RASA1, KRAS

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Clinical Features for Neurofibromatosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

162200,162270,101000,162210,613675

Clinical synopsis from OMIM:

101000

Symptoms:

48 (show all 65)
  • cafe-au-lait spot
  • follicular/erythematous/edematous papules/milium
  • mild visual loss/impaired visual acuity
  • retinal vascular anomalies/retinal telangiectasia
  • corneal clouding/opacity/vascularisation
  • facial palsy
  • facial pain/cephalalgia/migraine
  • skin tumors/lumps/epidermal cysts
  • cataract/lens opacification
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • cranial nerves palsy
  • proptosis/exophthalmos
  • benign tumor of the brain/nervous system
  • meningioma
  • glial tumor/glioblastoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • alexia/agraphia/writing/reading troubles
  • sensitive trouble/deficit
  • abnormal gait
  • cranial hypertension
  • autosomal dominant inheritance
  • lisch nodules/iris hamartomas
  • heterochromia/mixed colouring of iris
  • anomalies of ear and hearing
  • hearing loss/hypoacusia/deafness
  • excessive freckling
  • ataxia/incoordination/trouble of the equilibrium
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • troubles of memory/amnesia/hypermnesia
  • hyperactivity/attention deficit
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • anomalies of eyes and vision
  • kyphosis
  • macules
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • pigmented naevi/naevus pigmentosus/lentigo
  • xanthomas/lipomas
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • glaucoma
  • digestive neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • myeloproliferative syndrome/chronic leukemia
  • tall stature/gigantism/growth acceleration
  • short stature/dwarfism/nanism
  • tinnitus
  • dizziness
  • sensorineural deafness/hearing loss
  • neoplasms/tumors
  • restricted joint mobility/joint stiffness/ankylosis
  • scoliosis
  • irregular/patchy skin hypopigmentation
  • structural anomalies of the respiratory system and diaphragm
  • chronic arterial hypertension
  • arterial stenosis/occlusion
  • anomalies of the endocrine glands
  • precocious puberty
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • anomalies of bones/skeletal anomalies

Drugs & Therapeutics for Neurofibromatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

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20GeneTests, 22GTR
See all sources

Genetic tests related to Neurofibromatosis:

id Genetic test Affiliating Genes
1 Neurofibromatosis 120 NF1
2 Neurofibromatosis 220 NF2
3 Neurofibromatosis, Type 122
4 Neurofibromatosis, Type 222
5 Neurofibromatosis Type 422

Anatomical Context for Neurofibromatosis

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32MalaCards
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MalaCards organs/tissues related to Neurofibromatosis:

32
Brain, Skin, Spinal cord, Bone, Testes, Eye, Breast, Lung, Thyroid, Colon, Kidney, Myeloid, Pancreas, Endothelial, Prostate, Retina, Liver, Small intestine, Smooth muscle, B cells, Cortex, Bone marrow, Adrenal gland, Pancreatic islet, Tongue, Thalamus, Globus pallidus, T cells, Monocytes, Cervix, Pituitary, Ovary

Animal Models for Neurofibromatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neurofibromatosis:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.6VHL, PDGFRA, APOBEC1, CRLF3, CREB1, OMG
2MP:000287311.5VHL, PDGFRA, APOBEC1, CREB1, OMG, NF1
3MP:000537811.5NF1, NF2, CREB1, PDGFRA, VHL, RET
4MP:000538511.5VHL, PDGFRA, APOBEC1, CREB1, NF1, RET
5MP:001076811.4NF2, CREB1, APOBEC1, PDGFRA, VHL, NF1
6MP:000200611.4SDHD, VHL, PDGFRA, NF2, NF1, RET
7MP:000363111.3CRTAC1, CREB1, NF2, NF1, RET, HRAS
8MP:000537911.3PDGFRA, CREB1, NF2, NF1, RET, HRAS
9MP:000538711.3VHL, PDGFRA, CREB1, NF2, NF1, RET
10MP:000538211.2VHL, PDGFRA, NF2, NF1, HRAS, RASA1
11MP:000538811.2PDGFRA, CREB1, NF2, NF1, KRAS, PTPN11
12MP:000538411.2VHL, PDGFRA, CRTAC1, CREB1, NF1, RET
13MP:000536911.2VHL, PDGFRA, CREB1, NF1, RET, RASA1
14MP:000538611.0PDGFRA, CREB1, NF2, RET, HRAS, KRAS
15MP:000538011.0VHL, NF2, RET, SDHD
16MP:000539010.9VHL, PDGFRA, CREB1, NF2, NF1, HRAS
17MP:000537110.9SPRED1, PTPN11
18MP:000301210.8OMG, RET, HRAS, RASA1, PTPN11, PDGFRA
19MP:000536710.8VHL, NF2, RET
20MP:000539710.7VHL, PDGFRA, CRLF3, NF1, RET, KRAS
21MP:001077110.6PDGFRA, HRAS, KRAS

Publications for Neurofibromatosis

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50PubMed
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Articles related to Neurofibromatosis:

(show top 50)    (show all 1500)
idTitleAuthorsYear
1
Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. (24311643)
2014
2
Anuric acute kidney injury in neurofibromatosis 1. (23177704)
2013
3
Microsurgical management of non-neurofibromatosis spinal schwannoma. (23102980)
2013
4
Auditory brainstem implantation improves speech recognition in neurofibromatosis type II patients. (24042846)
2013
5
Poor Wound Healing After Pial Synangiosis in 2 Children With Moyamoya Vasculopathy Associated With Neurofibromatosis Type 1. (24141273)
2013
6
Pediatric Intramedullary Schwannoma without Neurofibromatosis: Case Report. (24338149)
2013
7
Challenges of cognitive research in neurofibromatosis type 1. (24107290)
2013
8
Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report. (23533858)
2013
9
Pseudoarthrosis of the hand in neurofibromatosis type 1: a case report. (24217084)
2013
10
Advances in the treatment of neurofibromatosis-associated tumours. (23939548)
2013
11
Cognitive-behavioral phenotype or comorbid disorder? The case of attention-deficit-hyperactivity disorder in neurofibromatosis type 1. (22881385)
2012
12
Favorable effect of sorafenib in a patient with neurofibromatosis-associated pulmonary hypertension. (22855545)
2012
13
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
14
Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1. (21274014)
2011
15
Multidisciplinary surgical management of cherubism complicated by neurofibromatosis type 1. (22134267)
2011
16
Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (20002172)
2010
17
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. (20543202)
2010
18
Four generations in a family with neurofibromatosis 1: precocious puberty and optic nerve tumor (OPT). (21258292)
2010
19
Further genotype--phenotype correlations in neurofibromatosis 2. (19968670)
2010
20
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. (19601812)
2009
21
A malignant peripheral nerve sheath tumor of the mediastinum in a patient with neurofibromatosis type 1: report of a case. (18820872)
2008
22
Tissue-specific ablation of Prkar1a causes schwannomas by suppressing neurofibromatosis protein production. (18953430)
2008
23
Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac. (17234759)
2007
24
Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. (16944271)
2007
25
Meningioangiomatosis without neurofibromatosis: a clinical analysis. (16270683)
2005
26
PKA phosphorylation and 14-3-3 interaction regulate the function of neurofibromatosis type I tumor suppressor, neurofibromin. (14741381)
2004
27
Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1. (12525736)
2003
28
Endotracheal neurofibroma in neurofibromatosis type 1: an unusual manifestation. (11868097)
2002
29
Preimplantation diagnosis for neurofibromatosis. (12709270)
2002
30
Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. (11751683)
2001
31
Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus. (10720287)
2000
32
Special feature: pathological case of the month. Diagnosis and discussion: neurofibromatosis 2 with bilateral vestibular schwannomas and spinal cord ependymoma. (10980805)
2000
33
Neurofibromatosis. Nosological considerations. (12089989)
2000
34
Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1. Case report. (10470829)
1999
35
Molecular-genetic aspects of neurofibromatosis]. (9190537)
1997
36
RNA processing and clinical variability in neurofibromatosis type I (NF1). (9300663)
1997
37
Synchronous occurrence of Wilms tumor and ganglioneuroblastoma in a child with neurofibromatosis. (9402494)
1997
38
Primary trochlear nerve neoplasm in a child with neurofibromatosis 1. (8934417)
1996
39
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). (8089100)
1994
40
Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. (8302341)
1994
41
Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. (7981724)
1994
42
The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. (1550670)
1992
43
Type 1 neurofibromatosis gene: correction. (2125369)
1990
44
Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases. (2516898)
1989
45
Neurofibromatosis and small bowel adenocarcinoma: an unrecognised association. (3119436)
1987
46
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
47
Neurilemmomatosis and neurofibromatosis syndrome. (3935581)
1985
48
Neurofibromatosis with ganglioneuroma of pharynx. (4955301)
1965
49
Simultaneous occurrence of von Recklinghausen's neurofibromatosis and osteitis fibrosa cystica; report of a case showing both diseases in addition to liposarcoma. (13038632)
1953
50
Local gigantism (a manifestation of neurofibromatosis): its relation to general gigantism and to acromegaly; illustrating the influence of intrinsic factors in disease when development of the body is abnormal. (14799608)
1950

Genetic Variations for Neurofibromatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Neurofibromatosis:

62 (show all 91)
id Symbol AA change Variation ID SNP ID
1NF1p.Gly629ArgVAR_002653rs199474738
2NF1p.Leu844ArgVAR_002654rs137854566
3NF1p.Leu898ProVAR_002655rs199474786
4NF1p.Met1035ArgVAR_002657rs137854553
5NF1p.Lys1440ArgVAR_002658rs199474788
6NF1p.Lys1444GluVAR_002659rs137854550
7NF1p.Arg1611TrpVAR_002660
8NF1p.Trp1952ArgVAR_002662rs199474791
9NF1p.Leu1953ProVAR_002663rs199474792
10NF1p.Leu2164MetVAR_002664rs137854551
11NF1p.Tyr2192AsnVAR_002665
12NF1p.Thr2631AlaVAR_002667rs199474793
13NF1p.Leu1446ProVAR_008129rs199474733
14NF1p.Ile117SerVAR_010989rs199474731
15NF1p.Asp338GlyVAR_010990rs199474773
16NF1p.Leu508ProVAR_010991rs137854558
17NF1p.Leu844PheVAR_010992rs199474785
18NF1p.Gly1166AspVAR_010993rs199474787
19NF1p.Arg1204TrpVAR_010994rs199474732
20NF1p.Arg1276ProVAR_010995rs137854556
21NF1p.Arg1412SerVAR_010996rs137854554
22NF1p.Lys1440GlnVAR_010997rs199474790
23NF1p.Ser1489GlyVAR_010998rs199474743
24NF1p.Cys93TyrVAR_017551rs199474728
25NF1p.Leu604ValVAR_017553rs142712751
26NF1p.Arg1276GlnVAR_017555rs137854556
27NF1p.Ser82PheVAR_021730rs199474729
28NF1p.Ile157AsnVAR_021731rs199474744
29NF1p.Leu216ProVAR_021732rs199474756
30NF1p.Leu357ProVAR_021733rs137854563
31NF1p.Tyr491CysVAR_021734rs199474757
32NF1p.Leu549ProVAR_021735rs199474758
33NF1p.Leu578ArgVAR_021736rs199474774
34NF1p.Ile581ThrVAR_021737rs199474759
35NF1p.Lys583ArgVAR_021738rs199474760
36NF1p.Leu695ProVAR_021740rs199474761
37NF1p.Leu763ProVAR_021741rs199474762
38NF1p.Trp777SerVAR_021743rs199474745
39NF1p.Thr780LysVAR_021744rs199474746
40NF1p.His781ProVAR_021745rs199474763
41NF1p.Trp784CysVAR_021746rs199474778
42NF1p.Trp784ArgVAR_021747rs199474730
43NF1p.Leu847ProVAR_021748rs199474747
44NF1p.Gly848GluVAR_021749rs199474748
45NF1p.Leu920ProVAR_021750rs199474775
46NF1p.Met968ArgVAR_021751rs199474749
47NF1p.Leu1147ProVAR_021752rs199474779
48NF1p.Asn1156SerVAR_021753rs199474764
49NF1p.Phe1193CysVAR_021754rs199474780
50NF1p.Arg1204GlyVAR_021755rs199474732
51NF1p.Arg1250ProVAR_021756rs199474765
52NF1p.Lys1444AsnVAR_021757rs199474750
53NF1p.Lys1444ArgVAR_021758rs199474781
54NF1p.Ile1605ValVAR_021759rs199474766
55NF1p.Ala1785SerVAR_021760rs199474782
56NF1p.Gly2001ArgVAR_021762rs199474751
57NF1p.Asp2012AsnVAR_021763rs199474783
58NF1p.Pro2221AlaVAR_021764rs199474776
59NF1p.Glu2357LysVAR_021765rs199474784
60NF1p.Thr2507IleVAR_021766rs149055633
61NF1p.His31ArgVAR_032459rs199474725
62NF1p.Leu145ProVAR_032460rs199474734
63NF1p.Asp186ValVAR_032461
64NF1p.Cys324ArgVAR_032463rs199474735
65NF1p.Glu337ValVAR_032464rs199474736
66NF1p.Tyr489CysVAR_032465rs137854557
67NF1p.Leu532ProVAR_032466rs199474737
68NF1p.Ser574ArgVAR_032467
69NF1p.Leu844ProVAR_032468rs137854566
70NF1p.Met1073ValVAR_032470rs199474740
71NF1p.Leu1196ArgVAR_032471rs199474741
72NF1p.Leu1243ProVAR_032472rs137854564
73NF1p.Arg1276GlyVAR_032473rs199474742
74NF1p.Lys1430GluVAR_032474
75NF1p.Arg160ThrVAR_065888rs199474752
76NF2p.Phe62SerVAR_000810
77NF2p.Glu106GlyVAR_000813
78NF2p.Asn220TyrVAR_000818
79NF2p.Thr352MetVAR_000821
80NF2p.Leu360ProVAR_000822
81NF2p.Leu535ProVAR_000825
82NF2p.Gln538ProVAR_000826
83NF2p.Leu234ArgVAR_009123
84NF2p.Met77ValVAR_043011
85NF2p.Leu141ProVAR_043012
86NF2p.Gly197CysVAR_043013
87NF2p.Lys413GluVAR_043014
88NF2p.Lys533ThrVAR_043015
89NF2p.Leu539HisVAR_043016
90NF2p.Lys579MetVAR_043017
91NF2p.Cys133ArgVAR_065227

Expression for genes affiliated with Neurofibromatosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Neurofibromatosis

Search GEO for disease gene expression data for Neurofibromatosis.

Pathways for genes affiliated with Neurofibromatosis

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 59Tocris Bioscience
See all sources

Pathways related to Neurofibromatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.9CREB1, PTPN11, KRAS, RASA1, HRAS, PDGFRA
2
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10.9CREB1, PDGFRA, HRAS, KRAS, PTPN11, RASA1
3
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10.9HRAS, CREB1, NF1, RASA1, KRAS, PTPN11
4
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10.9NF1, VHL, PDGFRA, CREB1, HRAS, RASA1
5
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10.8PDGFRA, RASA1, HRAS, KRAS, RASA2, NF1
6
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10.8PDGFRA, NF1, KRAS, HRAS, CREB1
710.8CREB1, HRAS, RASA1, KRAS, PTPN11
8
Hide members
10.8PTPN11, HRAS, CREB1, RASA1, KRAS
9
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10.8CREB1, PDGFRA, PTPN11, KRAS, HRAS
10
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10.8HRAS, PDGFRA, CREB1, KRAS, PTPN11
11
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10.8KRAS, PTPN11, HRAS, CREB1, PDGFRA
1210.8PTPN11, RET, HRAS, CREB1, RASA1
1310.8HRAS, RET, VHL, KRAS, PDGFRA
1410.7NF1, HRAS, NF2, PDGFRA
15
Hide members
10.7SPRED1, HRAS, PTPN11, RASA1
16
Translation Insulin regulation of translation
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10.7PTPN11, NF2, HRAS, KRAS
17
Development PDGF signaling via STATs and NF-kB
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10.7PTPN11, RASA1, HRAS, PDGFRA
18
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10.7PTPN11, RASA1, HRAS, VHL
19
Hide members
10.7PTPN11, KRAS, RASA1, HRAS
20
Development FGF-family signaling
Hide members
10.7PTPN11, CREB1, HRAS, RASA1
21
Development Prolactin receptor signaling
Hide members
10.7HRAS, PTPN11, KRAS, CREB1
22
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
10.7PTPN11, KRAS, CREB1, HRAS
23
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10.7KRAS, HRAS, CREB1, PTPN11
2410.7CREB1, PDGFRA, KRAS, HRAS
2510.7NF2, RET, VHL, CREB1
26
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10.7RET, CREB1, RASA1, HRAS
2710.7CREB1, HRAS, KRAS, RASA2
28
Hide members
10.7CREB1, HRAS, KRAS, RASA2
2910.7NF1, HRAS, RASA1
30
Hide members
10.7HRAS, RASA1, PTPN11
3110.7HRAS, RASA1, PTPN11
3210.7RASA1, HRAS, PTPN11
33
Development EPO-induced Jak-STAT pathway
Hide members
10.7PTPN11, RASA1, HRAS
3410.7PDGFRA, NF1, CREB1
35
Hide members
10.7HRAS, PTPN11, KRAS
3610.7PTPN11, HRAS, KRAS
3710.7PTPN11, HRAS, KRAS
38
Hide members
10.7KRAS, HRAS, PTPN11
3910.7PTPN11, KRAS, HRAS
40
Immune response IL-6 signaling pathway
Hide members
10.7HRAS, PTPN11, CREB1
4110.7PTPN11, HRAS, CREB1
4210.7CREB1, HRAS, PTPN11
43
Hide members
10.7RASA1, NF1, RASA2
4410.7CREB1, HRAS, KRAS
45
G-protein signaling H-RAS regulation pathway
Hide members
10.7HRAS, RASA1, RET
46
Hide members
10.7RET, HRAS, PDGFRA
4710.7KRAS, RET, HRAS
4810.6PTPN11, NF1
49
Hide members
10.6SDHB, SDHD
50
Hide members
10.6SDHD, SDHB

Compounds for genes affiliated with Neurofibromatosis

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1tyrosine4411.6NF1, NF2, CREB1, PDGFRA, VHL, RET
2phosphatidylinositol4411.5VHL, PDGFRA, CREB1, NF1, RET, HRAS
3calcium44 49 11 2414.4VHL, PDGFRA, CREB1, NF1, RET, HRAS
4lipid4411.4APOBEC1, CREB1, NF1, RET, HRAS, RASA2
5serine4411.4VHL, CREB1, NF2, NF1, RET, HRAS
6rapamycin4411.4PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
7oligonucleotide4411.4VHL, PDGFRA, CREB1, NF1, RET, HRAS
8vegf4411.4VHL, PDGFRA, CREB1, RET, HRAS, KRAS
9atp44 2812.2PDGFRA, CREB1, NF1, RET, HRAS, PTPN11
10phosphotyrosine4411.2PDGFRA, RET, HRAS, RASA2, RASA1, PTPN11
11cysteine4411.2CREB1, NF2, NF1, RET, HRAS, PTPN11
12paraffin4411.2PDGFRA, NF2, NF1, RET, HRAS, KRAS
13ly2940024411.2VHL, CREB1, RET, HRAS, KRAS, PTPN11
14succinate4411.2VHL, NF1, RET, SDHD, SDHB
15phenylalanine4411.1RET, HRAS, RASA2, RASA1, PTPN11
16agar4411.1CREB1, NF2, RET, HRAS, PTPN11
17wortmannin4411.1CREB1, RET, HRAS, KRAS, PTPN11
18arginine4411.1NF1, RET, HRAS, RASA1, PTPN11, SDHB
19gtp44 2812.0NF1, HRAS, RASA2, RASA1, KRAS
20herbimycin a44 5912.0PTPN11, HRAS, RET, CREB1
21fumarate44 1112.0VHL, SDHD, SDHB
22imatinib44 49 1113.0PDGFRA, RET, KRAS, PTPN11
23oxygen44 2412.0VHL, HRAS, KRAS, PTPN11, SDHD, SDHB
24sunitinib44 49 1113.0VHL, PDGFRA, RET
25gdp4411.0NF1, HRAS, RASA2, RASA1
26guanine44 11 2412.9RASA1, RASA2, HRAS, CREB1
27retinoic acid44 2411.9PDGFRA, CREB1, NF1, RET, HRAS, KRAS
28UBIQUINONE-11110.9SDHB, SDHD
29guanosine44 11 2412.9NF1, HRAS, RASA1
303-nitropropionic acid4410.8SDHB, CREB1
31methionine4410.7NF1, RET, HRAS, PTPN11
32h2o24410.7CREB1, HRAS, KRAS, PTPN11, SDHB
33catecholamine4410.7SDHB, SDHD, RET
34estrogen4410.7NF1
352-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.3SDHB, SDHD

GO Terms for genes affiliated with Neurofibromatosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573711.2NF1, NF2, CRLF3, APOBEC1, RNF135, HRAS
2intrinsic to internal side of plasma membraneGO:03123510.6RASA1, RASA2, NF1
3mitochondrial respiratory chain complex IIGO:00574910.3SDHB, SDHD

Biological processes related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1neurotrophin TRK receptor signaling pathwayGO:04801111.2PTPN11, PDGFRA, CREB1, OMG, HRAS, KRAS
2fibroblast growth factor receptor signaling pathwayGO:00854311.1PTPN11, KRAS, HRAS, CREB1, PDGFRA
3Fc-epsilon receptor signaling pathwayGO:03809511.1PTPN11, KRAS, HRAS, CREB1, PDGFRA
4innate immune responseGO:04508711.1PDGFRA, CREB1, RNF135, HRAS, KRAS, PTPN11
5epidermal growth factor receptor signaling pathwayGO:00717311.1PDGFRA, CREB1, HRAS, KRAS, PTPN11
6MAPK cascadeGO:00016511.0NF1, RET, HRAS, KRAS
7regulation of synaptic transmission, GABAergicGO:03222811.0KRAS, HRAS, NF1
8negative regulation of cell-matrix adhesionGO:00195311.0NF2, NF1, RASA1
9actin cytoskeleton organizationGO:03003611.0KRAS, HRAS, NF1, NF2
10regulation of long-term neuronal synaptic plasticityGO:04816911.0KRAS, HRAS, NF1
11positive regulation of Ras GTPase activityGO:03232010.9RASA1, RASA2, NF1
12negative regulation of Ras protein signal transductionGO:04658010.9NF1, RASA2, RASA1
13visual learningGO:00854210.9KRAS, HRAS, NF1
14Ras protein signal transductionGO:00726510.8KRAS, HRAS, NF1
15positive regulation of Rac protein signal transductionGO:03502210.8HRAS, KRAS
16striated muscle cell differentiationGO:05114610.7HRAS, KRAS
17positive regulation of hormone secretionGO:04688710.7CREB1, PTPN11
18negative regulation of MAPK cascadeGO:04340910.7NF1, NF2
19negative regulation of neuron apoptotic processGO:04352410.7KRAS, RASA1, HRAS
20positive regulation of cell migrationGO:03033510.7HRAS, RET, PDGFRA
21axon guidanceGO:00741110.6CREB1, HRAS, KRAS, PTPN11
22leukocyte migrationGO:05090010.4PTPN11, KRAS, HRAS

Molecular functions related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.0NF1, NF2, CREB1, APOBEC1, PDGFRA, VHL
2ubiquinone bindingGO:04803910.6SDHB, SDHD
3Ras GTPase activator activityGO:00509910.6RASA1, RASA2, NF1

Products for genes affiliated with Neurofibromatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurofibromatosis

About this section
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