NF1
MCID: NRF002
MIFTS: 86

Neurofibromatosis (NF1) malady

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

Summaries for Neurofibromatosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 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 plexiform neurofibroma and neurofibromatosis-noonan syndrome, and has symptoms including lisch nodules/iris hamartomas, kyphosis and macules. 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 bone marrow, whole blood and brain, 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:43 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:44 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.

Wikipedia:64 Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically... more...

Description from OMIM:47 162200,162270,101000,162210,613675

GeneReviews summary for nf2

GeneReviews summary for nf1

Aliases & Classifications for Neurofibromatosis

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 21Genetics Home Reference, 49Orphanet, 19GeneReviews, 61UMLS, 22GTR, 9diseasecard, 47OMIM, 20GeneTests, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer, Genetic
Anatomical: Neuronal, Eye, Cardiovascular, Nephrological, Ear, Skin


Characteristics (Orphanet epidemiological data):

49
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 64 43 44 10 45 34
von recklinghausen disease 64 19 43 21 49
neurofibromatosis type 1 8 43 21 45 49
neurofibromatosis type 2 8 43 21 45 49
neurofibromatosis 2 19 20 22 21 61
neurofibromatosis 1 8 19 21 49 61
bilateral acoustic neurofibromatosis 64 19 43 21
neurofibromatosis type ii 64 19 43 21
nf1 19 43 21 49
peripheral neurofibromatosis 8 64 21
central neurofibromatosis 8 19 21
type 1 neurofibromatosis 43 20 22
neurofibromatosis type 4 8 43 22
nf2 19 21 49
schwannoma, acoustic, bilateral 64 21
recklinghausen disease, nerve 64 21
familial acoustic neuromas 21 61
familial acoustic neuroma 64 49
neurofibromatosis, type 2 9 47
neurofibromatosis, type 1 9 47
banf 64 21
von recklinghausen disease due to nf1 mutation or intragenic deletion 49
neurofibromatosis type 1 due to nf1mutation or intragenic deletion 49
von recklinghausen's neurofibromatosis 19
type iv neurofibromatosis of riccardi 8
neurofibromatosis type 4 of riccardi 43
recklinghausen's neurofibromatosis 8
acoustic schwannomas bilateral 43
familial vestibular schwannoma 49
neurofibromatosis central type 43
acoustic neurinoma bilateral 43
von recklinghausen's disease 44
familial acoustic neurinoma 49
neurofibromatosis, atypical 43
multiple neurofibromatosis 64
acoustic neurofibromatosis 8
von reklinghausen disease 8
neurofibromatosis type iv 8
neurofibromatosis type i 64
recklinghausen's disease 43
neurofibromatoses 61


External Ids:

Disease Ontology8 DOID:8712
NCIt40 C3273
ICD9CM27 237.71
MESH via Orphanet36 C538607, D009456, D009464 D016518, more
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet58 92824003, 126949007, 92503002
UMLS via Orphanet62 C0027831, C0027832, C0027859

Related Diseases for Neurofibromatosis

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 457)
idRelated DiseaseScoreTop Affiliating Genes
1plexiform neurofibroma31.0NF1, PDGFRA
2neurofibromatosis-noonan syndrome30.9NF1, PTPN11
3noonan syndrome30.8PTPN11, KRAS, HRAS, NF1
4gastrointestinal stromal tumor30.7PDGFRA, NF2, NF1, SDHB
5pheochromocytoma30.6VHL, CREB1, NF1, RET, SDHD, SDHB
6neurofibrosarcoma30.6NF2, NF1
7ganglioneuroma30.6RET
8astrocytoma30.6VHL, PDGFRA, NF2, NF1, HRAS
9acute leukemia30.4PTPN11, KRAS, HRAS, NF1, CREB1
10legius syndrome30.4SPRED1
11pilocytic astrocytoma30.4NF1
12adenocarcinoma30.4VHL, CREB1, NF2, HRAS, KRAS
13juvenile myelomonocytic leukemia30.3NF1, PTPN11
14phaeochromocytoma30.2RET, SDHD, SDHB
15multiple endocrine neoplasia type 2a30.2VHL, NF1, RET, SDHD, SDHB
16myeloproliferative disorder30.2PDGFRA, CREB1, NF1, HRAS, PTPN11
17myelodysplastic syndromes30.2PDGFRA, NF1, KRAS, PTPN11
18colorectal cancer30.2NF2, NF1, HRAS, KRAS
19von hippel-lindau disease30.1VHL, NF1, RET, SDHD, SDHB
20chronic myelomonocytic leukemia30.1PTPN11, NF1, PDGFRA
21multiple endocrine neoplasia30.1VHL, NF2, NF1, RET, SDHD, SDHB
22leopard syndrome30.1PTPN11, HRAS
23adenoma30.0VHL, CREB1, RET, HRAS, KRAS
24short stature30.0NF1, HRAS, PTPN11
25sotos syndrome30.0RNF135
26acoustic neuroma30.0NF1, NF2, VHL
27chronic myeloid leukemia29.6PDGFRA, CREB1, NF1, HRAS, RASA1, KRAS
28paraganglioma29.6VHL, NF1, RET, SDHD, SDHB
29mental retardation29.6PTPN11, HRAS, NF1, CREB1, VHL
30carney triad29.6PDGFRA, SDHD, SDHB
31costello syndrome29.6PTPN11, KRAS, HRAS
32n syndrome10.8
33meningocele10.6
34optic pathway glioma10.4
35somatostatinoma10.3
36juvenile xanthogranuloma10.3
37familial spinal neurofibromatosis10.3
38benign meningioma10.3
39meningioma, nf2-related, somatic10.3
40atypical neurofibroma10.3
41secretory meningioma10.2
42pediatric meningioma10.2
43sclerosing perineurioma10.2
44tuberous sclerosis10.2
45gigantism10.2
46neurofibromatosis type 510.2
47renovascular hypertension10.2
48plexiform schwannoma10.2
49neurilemmomatosis10.2
50buphthalmos10.2

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Clinical Features for Neurofibromatosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

162200,162270,101000,162210,613675

Clinical synopsis from OMIM:

101000

Symptoms:

49 (show all 65)
  • lisch nodules/iris hamartomas
  • kyphosis
  • macules
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • pigmented naevi/naevus pigmentosus/lentigo
  • cafe-au-lait spot
  • skin tumors/lumps/epidermal cysts
  • xanthomas/lipomas
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • benign tumor of the brain/nervous system
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • anomalies of eyes and vision
  • heterochromia/mixed colouring of iris
  • anomalies of ear and hearing
  • hearing loss/hypoacusia/deafness
  • excessive freckling
  • facial pain/cephalalgia/migraine
  • 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
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • glaucoma
  • mild visual loss/impaired visual acuity
  • 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
  • restricted joint mobility/joint stiffness/ankylosis
  • neoplasms/tumors
  • digestive neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • myeloproliferative syndrome/chronic leukemia
  • tall stature/gigantism/growth acceleration
  • short stature/dwarfism/nanism
  • tinnitus
  • dizziness
  • sensorineural deafness/hearing loss
  • cataract/lens opacification
  • facial palsy
  • corneal clouding/opacity/vascularisation
  • retinal vascular anomalies/retinal telangiectasia
  • follicular/erythematous/edematous papules/milium
  • cranial nerves palsy
  • cranial hypertension
  • abnormal gait
  • sensitive trouble/deficit
  • alexia/agraphia/writing/reading troubles
  • glial tumor/glioblastoma
  • meningioma

Drugs & Therapeutics for Neurofibromatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Neurofibromatosis:

33
Bone marrow, Whole blood, Brain, Cortex, Retina, Spinal cord, Smooth muscle, Skeletal muscle, Small intestine, Colon, Kidney, Liver, Lung, Pancreas, Thyroid, Adrenal gland, Breast, Skin, Ovary, Prostate, Cervix, Myeloid, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Ciliary ganglion, Globus pallidus, Thalamus, Tongue, Fetal liver, Fetal lung, Fetal thyroid, Pancreatic islet, Adrenal cortex, Pituitary

Animal Models for Neurofibromatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neurofibromatosis:

37 (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

Sources:
51PubMed
See all sources

Articles related to Neurofibromatosis:

(show top 50)    (show all 1541)
idTitleAuthorsYear
1
Ipsilateral cochlear implantation after cochlear nerve preserving vestibular schwannoma surgery in patients with neurofibromatosis type 2. (24335931)
2014
2
The Activation of the WNT Signaling Pathway Is a Hallmark in Neurofibromatosis Type 1 Tumorigenesis. (24218515)
2014
3
Lobar haemorrhagic mass in a young girl with neurofibromatosis type 1. (23975924)
2013
4
Pyoderma Gangrenosum Associated with an Aseptic Splenic Abscess in a Patient with Neurofibromatosis. (23535023)
2013
5
Malignant peripheral nerve sheath tumor of the chest wall associated with neurofibromatosis: a case report. (23825788)
2013
6
Obstructive jaundice secondary to ampullary adenocarcinoma in neurofibromatosis type 1. (24426533)
2013
7
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. (23463485)
2013
8
A clinical and genetic overview of 18a88years neurofibromatosis type 1 molecular diagnostics in the Netherlands. (23656349)
2013
9
Optic pathway glioma, scoliosis, Chiari type 1 malformation, and syringomyelia in a patient with neurofibromatosis type 1. (24174788)
2013
10
A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the French Canadian variant of Leigh's syndrome in a common molecular complex. (23361976)
2013
11
Radiation-induced Gliomas in 2 Pediatric Patients With Neurofibromatosis Type 1: Case Study and Summary of the Literature. (24136023)
2013
12
Cervical myelopathy caused by bilateral C1-2 dumbbell ganglioneuromas and C2-3 and C3-4 neurofibromas associated with neurofibromatosis type 1. (23053586)
2012
13
Visual loss in orbitofacial neurofibromatosis type 1. (22709421)
2012
14
The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. (22881119)
2012
15
Cerebellar anaplastic pilocytic astrocytoma in a patient of neurofibromatosis type-1: case report and review of the literature. (22397971)
2012
16
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors. (22250039)
2012
17
Association of Wilson disease with neurofibromatosis. (22054275)
2011
18
Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature. (22140640)
2011
19
Intraparotid facial nerve neurofibroma in neurofibromatosis type 1. (21586962)
2011
20
Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1. (21534343)
2011
21
Diffuse scalp malignant peripheral nerve sheath tumor with intracranial extension in a patient with neurofibromatosis type 1. (20655235)
2010
22
Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1. (20979170)
2010
23
Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. (19568998)
2008
24
Neurofibromatosis-associated nerve sheath tumors. Case report and review of the literature. (16459989)
2006
25
Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. (15665300)
2005
26
Neurofibromatosis I and unexplained iron deficiency in two patients: is iron depletion related to neurofibroma growth? (16283447)
2005
27
p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. (14519636)
2003
28
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. (12807981)
2003
29
Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. (12237234)
2002
30
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. (11425952)
2001
31
Special feature: pathological case of the month. Diagnosis and discussion: neurofibromatosis 2 with bilateral vestibular schwannomas and spinal cord ependymoma. (10980805)
2000
32
The neurofibromatosis type 1 (Nf1) tumor suppressor is a modifier of carcinogen-induced pigmentation and papilloma formation in C57BL/6 mice. (10844550)
2000
33
A case of Miller-Dieker syndrome in a family with neurofibromatosis type I. (10787042)
2000
34
Familial neurofibromatosis type I and adult acute lymphocytic leukemia. (10329933)
1999
35
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. (9639526)
1998
36
Structure-function relationships in the ezrin family and the effect of tumor-associated point mutations in neurofibromatosis 2 protein. (9748471)
1998
37
Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase. (8612763)
1996
38
Bone scans in neurofibromatosis: neurofibroma, plexiform neuroma and neurofibrosarcoma. (8917174)
1996
39
The neurofibromatosis type I messenger RNA undergoes base- modification RNA editing. (8602361)
1996
40
Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1). (7794530)
1995
41
Noonan syndrome with cafAc-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. (7586657)
1995
42
Role for the stem cell factor/KIT complex in Schwann cell neoplasia and mast cell proliferation associated with neurofibromatosis. (7513766)
1994
43
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. (8362913)
1993
44
The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain. (1280127)
1992
45
A de novo Alu insertion results in neurofibromatosis type 1. (1719426)
1991
46
Choroidal neurofibromatosis with congenital iris ectropion and buphthalmos: relationship and significance. (1955961)
1991
47
Intrathoracic meningocele in association with neurofibromatosis: report of a case. (1681023)
1991
48
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. (1783401)
1991
49
Ganglioneuroma and acute lymphoblastic leukemia in association with neurofibromatosis. (6816063)
1982
50
Intrathoracic meningocele spinal deformity, and multiple neurofibromatosis. (14814166)
1951

Genetic Variations for Neurofibromatosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Neurofibromatosis:

63 (show all 91)
id Symbol AA change Variation 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

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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome, 52QIAGEN, 53R&D Systems, 4Cell Signaling Technology, 50PharmGKB, 60Tocris 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
Hide members
10.9CREB1, PDGFRA, HRAS, KRAS, PTPN11, RASA1
3
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10.9HRAS, CREB1, NF1, RASA1, KRAS, PTPN11
4
Hide members
10.9NF1, VHL, PDGFRA, CREB1, HRAS, RASA1
5
Hide members
10.8PDGFRA, RASA1, HRAS, KRAS, RASA2, NF1
6
Hide members
10.8PDGFRA, NF1, KRAS, HRAS, CREB1
710.8CREB1, HRAS, RASA1, KRAS, PTPN11
8
Hide members
10.8PTPN11, HRAS, CREB1, RASA1, KRAS
9
Hide members
10.8CREB1, PDGFRA, PTPN11, KRAS, HRAS
10
Hide members
10.8HRAS, PDGFRA, CREB1, KRAS, PTPN11
11
Hide members
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
Hide members
10.7PTPN11, NF2, HRAS, KRAS
17
Development PDGF signaling via STATs and NF-kB
Hide members
10.7PTPN11, RASA1, HRAS, PDGFRA
18
Hide members
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
Hide members
10.7KRAS, HRAS, CREB1, PTPN11
2410.7CREB1, PDGFRA, KRAS, HRAS
2510.7NF2, RET, VHL, CREB1
26
Hide members
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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1tyrosine4511.6NF1, NF2, CREB1, PDGFRA, VHL, RET
2phosphatidylinositol4511.5VHL, PDGFRA, CREB1, NF1, RET, HRAS
3calcium45 50 11 2414.4VHL, PDGFRA, CREB1, NF1, RET, HRAS
4lipid4511.4APOBEC1, CREB1, NF1, RET, HRAS, RASA2
5serine4511.4VHL, CREB1, NF2, NF1, RET, HRAS
6rapamycin4511.4PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
7oligonucleotide4511.4VHL, PDGFRA, CREB1, NF1, RET, HRAS
8vegf4511.4VHL, PDGFRA, CREB1, RET, HRAS, KRAS
9atp45 2912.2PDGFRA, CREB1, NF1, RET, HRAS, PTPN11
10phosphotyrosine4511.2PDGFRA, RET, HRAS, RASA2, RASA1, PTPN11
11cysteine4511.2CREB1, NF2, NF1, RET, HRAS, PTPN11
12paraffin4511.2PDGFRA, NF2, NF1, RET, HRAS, KRAS
13ly2940024511.2VHL, CREB1, RET, HRAS, KRAS, PTPN11
14succinate4511.2VHL, NF1, RET, SDHD, SDHB
15phenylalanine4511.1RET, HRAS, RASA2, RASA1, PTPN11
16agar4511.1CREB1, NF2, RET, HRAS, PTPN11
17wortmannin4511.1CREB1, RET, HRAS, KRAS, PTPN11
18arginine4511.1NF1, RET, HRAS, RASA1, PTPN11, SDHB
19gtp45 2912.0NF1, HRAS, RASA2, RASA1, KRAS
20herbimycin a45 6012.0PTPN11, HRAS, RET, CREB1
21fumarate45 1112.0VHL, SDHD, SDHB
22imatinib45 50 1113.0PDGFRA, RET, KRAS, PTPN11
23oxygen45 2412.0VHL, HRAS, KRAS, PTPN11, SDHD, SDHB
24sunitinib45 50 1113.0VHL, PDGFRA, RET
25gdp4511.0NF1, HRAS, RASA2, RASA1
26guanine45 11 2412.9RASA1, RASA2, HRAS, CREB1
27retinoic acid45 2411.9PDGFRA, CREB1, NF1, RET, HRAS, KRAS
28UBIQUINONE-11110.9SDHB, SDHD
29guanosine45 11 2412.9NF1, HRAS, RASA1
303-nitropropionic acid4510.8SDHB, CREB1
31methionine4510.7NF1, RET, HRAS, PTPN11
32h2o24510.7CREB1, HRAS, KRAS, PTPN11, SDHB
33catecholamine4510.7SDHB, SDHD, RET
34estrogen4510.7NF1
352-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.3SDHB, SDHD

GO Terms for genes affiliated with Neurofibromatosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Neurofibromatosis according to GeneCards/GeneDecks:

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurofibromatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet