NF1
MCID: NRF002
MIFTS: 94

Neurofibromatosis (NF1) malady

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Summaries for Neurofibromatosis

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NIH Rare Diseases:42 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. last updated: 2/10/2010

MalaCards based summary: Neurofibromatosis, also known as von recklinghausen disease, is related to neurofibroma and plexiform neurofibroma, 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 pilocytic astrocytoma and Development VEGF signaling and activation. The compounds Fumaric acid and 3-nitropropionic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related mouse phenotypes are pigmentation and craniofacial.

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.

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 serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. nih: national institute of neurological disorders and stroke

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

Wikipedia:65 Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically... more...

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

GeneReviews summary for nf2

GeneReviews summary for nf1

Aliases & Classifications for Neurofibromatosis

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Sources:
8Disease Ontology, 65Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 33MedlinePlus, 21Genetics Home Reference, 48Orphanet, 62UMLS, 19GeneReviews, 22GTR, 9diseasecard, 46OMIM, 20GeneTests, 57SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Neurofibromatosis, Aliases & Descriptions:

Name: Neurofibromatosis 8 65 42 43 10 44 33
Von Recklinghausen Disease 65 19 42 21 48 62
Neurofibromatosis Type 1 8 42 21 44 48 62
Neurofibromatosis Type 2 8 42 21 44 48 62
Neurofibromatosis 2 19 20 22 21 62
Bilateral Acoustic Neurofibromatosis 65 19 42 21
Peripheral Neurofibromatosis 8 65 21 62
Central Neurofibromatosis 8 19 21 62
Neurofibromatosis Type Ii 65 19 42 21
Neurofibromatosis 1 8 19 21 62
Nf2 19 42 21 48
Nf1 19 42 21 48
Neurofibromatosis, Type 1 9 46 62
Type 1 Neurofibromatosis 42 20 22
Neurofibromatosis Type 4 8 42 22
Recklinghausen's Neurofibromatosis 8 62
Schwannoma, Acoustic, Bilateral 65 21
Familial Vestibular Schwannoma 48 62
Recklinghausen Disease, Nerve 65 21
Acoustic Neurofibromatosis 8 62
Familial Acoustic Neuromas 21 62
Multiple Neurofibromatosis 65 62
 
Familial Acoustic Neuroma 65 48
Neurofibromatosis, Type 2 9 46
Banf 65 21
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 48
Neurofibromatosis Type 1 Due to Nf1mutation or Intragenic Deletion 48
Neurofibromatosis, Acoustic, Bilateral 62
Neurofibromatosis, Type 4, of Riccardi 62
Von Recklinghausen's Neurofibromatosis 19
Type Iv Neurofibromatosis of Riccardi 8
Neurofibromatosis Type 4 of Riccardi 42
Neurofibromatosis Central Type 42
Acoustic Schwannomas Bilateral 42
Von Recklinghausen's Disease 43
Acoustic Neurinoma Bilateral 42
Familial Acoustic Neurinoma 48
Neurofibromatosis, Atypical 42
Von Reklinghausen Disease 8
Neurofibromatosis Type Iv 8
Neurofibromatosis Type I 65
Recklinghausen's Disease 42
Neurofibromatoses 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:8712
NCIt39 C3273
ICD9CM27 237.71
UMLS via Orphanet63 C0027831, C0027832, C0027859
MESH via Orphanet35 C538607, D009456, D009464 D016518, more
ICD10 via Orphanet26 Q85.0

Related Diseases for Neurofibromatosis

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Diseases in the Neurofibromatosis family:

Neurofibromatosis Type 3a Neurofibromatosis Type 3b
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 514)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibroma31.8PDGFRA, NF2, NF1
2plexiform neurofibroma31.6PDGFRA, NF1
3malignant peripheral nerve sheath tumor31.6NF2, NF1, PDGFRA
4neurofibromatosis-noonan syndrome31.5PTPN11, NF1
5neurofibrosarcoma31.4NF1, NF2
6legius syndrome31.3SPRED1
7gastrointestinal stromal tumor31.1PDGFRA, SDHB, NF1, NF2
8juvenile myelomonocytic leukemia31.0NF1, PTPN11
9piebaldism31.0PDGFRA
10learning disability30.9NF1
11noonan syndrome30.9HRAS, PTPN11, NF1, KRAS
12neuroma30.8RET
13ependymoma30.8NF1, NF2, PDGFRA
14leopard syndrome30.7PTPN11, HRAS
15noonan syndrome 130.7PTPN11
16astrocytoma30.7HRAS, PDGFRA, NF2, NF1, VHL
17phaeochromocytoma30.6RET, SDHB, SDHD
18cherubism30.6PTPN11
19neurilemmoma30.6NF2, NF1
20acoustic neuroma30.5VHL, NF2, NF1
21hyperparathyroidism30.4NF1, RET, SDHD, SDHB
22pheochromocytoma30.3VHL, CREB1, RET, SDHB, SDHD, NF1
23neuroendocrine tumor30.2NF1, PDGFRA, RET, SDHD
24sarcoma30.2HRAS, KRAS, NF2, PDGFRA, NF1
25leiomyomatosis30.1VHL, SDHB
26carney triad30.1SDHD, SDHB, PDGFRA
27malignant glioma30.1NF2, NF1, PDGFRA
28multiple endocrine neoplasia type 2a30.1NF1, SDHB, VHL, RET, SDHD
29leukemia30.0PDGFRA, PTPN11, CREB1, RASA2, KRAS, HRAS
30colorectal cancer30.0HRAS, PDGFRA, NF1, KRAS, NF2
31multiple endocrine neoplasia30.0SDHB, NF1, VHL, RET, SDHD, NF2
32myeloid leukemia30.0PTPN11, CREB1, NF1, HRAS
33developmental disabilities29.9HRAS, RET, PTPN11
34von hippel-lindau disease29.9RET, VHL, SDHD, SDHB, NF1
35adenocarcinoma29.9HRAS, NF2, KRAS, VHL, CREB1
36costello syndrome29.9HRAS, KRAS, PTPN11
37glioblastoma29.8CREB1, NF1, PDGFRA, PTPN11, VHL, HRAS
38acute leukemia29.8NF1, CREB1, KRAS, PTPN11, HRAS
39cystadenoma29.8VHL, KRAS
40myelodysplastic syndromes29.7NF1, PTPN11, KRAS, PDGFRA
41paraganglioma29.7RET, VHL, NF1, SDHD, SDHB
42hemangioma29.6NF1, VHL, RET, SDHD, SDHB
43mental retardation29.5VHL, NF1, PTPN11, HRAS, CREB1
44breast cancer29.5SDHB, PTPN11, VHL, RASA1, NF2, HRAS
45adenoma29.4HRAS, RET, KRAS, CREB1, VHL
46melanoma29.4PDGFRA, CREB1, NF2, NF1, KRAS, HRAS
47prostate cancer29.4KRAS, NF2, PDGFRA, RASA2, PTPN11, CREB1
48lung cancer29.1CREB1, KRAS, HRAS, PDGFRA, VHL
49chronic myeloid leukemia29.0HRAS, KRAS, RASA1, CREB1, PDGFRA, NF1
50meningocele10.6

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Symptoms for Neurofibromatosis

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Symptoms by clinical synopsis from OMIM:

101000

Clinical features from OMIM:

101000,162200,162270,162210,613675

Symptoms:

48 (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

HPO human phenotypes related to Neurofibromatosis:

(show all 109)
id Description Frequency HPO Source Accession
1 cafe-au-lait spot obligate (100%) HP:0000957
2 lisch nodules 95% HP:0009737
3 cafe-au-lait spot hallmark (90%) HP:0000957
4 melanocytic nevus hallmark (90%) HP:0000995
5 multiple lipomas hallmark (90%) HP:0001012
6 hypermelanotic macule hallmark (90%) HP:0001034
7 kyphosis hallmark (90%) HP:0002808
8 generalized hyperpigmentation hallmark (90%) HP:0007440
9 neoplasm of the skin hallmark (90%) HP:0008069
10 lisch nodules hallmark (90%) HP:0009737
11 benign neoplasm of the central nervous system hallmark (90%) HP:0100835
12 tinnitus hallmark (90%) HP:0000360
13 sensorineural hearing impairment hallmark (90%) HP:0000407
14 incoordination hallmark (90%) HP:0002311
15 vertigo hallmark (90%) HP:0002321
16 bilateral vestibular schwannoma 85% HP:0009589
17 juvenile posterior subcapsular lenticular opacities 72% HP:0007935
18 peripheral schwannoma 68% HP:0009593
19 hearing impairment typical (50%) HP:0000365
20 proptosis typical (50%) HP:0000520
21 heterochromia iridis typical (50%) HP:0001100
22 freckling typical (50%) HP:0001480
23 migraine typical (50%) HP:0002076
24 neurological speech impairment typical (50%) HP:0002167
25 incoordination typical (50%) HP:0002311
26 memory impairment typical (50%) HP:0002354
27 skeletal dysplasia typical (50%) HP:0002652
28 slender long bone typical (50%) HP:0003100
29 paresthesia typical (50%) HP:0003401
30 attention deficit hyperactivity disorder typical (50%) HP:0007018
31 cataract typical (50%) HP:0000518
32 migraine typical (50%) HP:0002076
33 neoplasm of the skin typical (50%) HP:0008069
34 meningioma 45% HP:0002858
35 macrocephaly 45% HP:0000256
36 cafe-au-lait spot 43% HP:0000957
37 juvenile cortical cataract 41% HP:0007876
38 hearing impairment 35% HP:0000365
39 short stature 31% HP:0004322
40 specific learning disability 30% HP:0001328
41 plexiform neurofibroma 30% HP:0009732
42 tinnitus 10% HP:0000360
43 retinal hamartoma 9% HP:0009594
44 ataxia 8% HP:0001251
45 headache occasional (7.5%) HP:0002315
46 tall stature occasional (7.5%) HP:0000098
47 hydrocephalus occasional (7.5%) HP:0000238
48 macrocephaly occasional (7.5%) HP:0000256
49 glaucoma occasional (7.5%) HP:0000501
50 visual impairment occasional (7.5%) HP:0000505
51 hypertension occasional (7.5%) HP:0000822
52 precocious puberty occasional (7.5%) HP:0000826
53 hypopigmented skin patches occasional (7.5%) HP:0001053
54 seizures occasional (7.5%) HP:0001250
55 limitation of joint mobility occasional (7.5%) HP:0001376
56 leukemia occasional (7.5%) HP:0001909
57 abnormality of the respiratory system occasional (7.5%) HP:0002086
58 scoliosis occasional (7.5%) HP:0002650
59 short stature occasional (7.5%) HP:0004322
60 neoplasm of the gastrointestinal tract occasional (7.5%) HP:0007378
61 urinary tract neoplasm occasional (7.5%) HP:0010786
62 sarcoma occasional (7.5%) HP:0100242
63 arterial stenosis occasional (7.5%) HP:0100545
64 neuroendocrine neoplasm occasional (7.5%) HP:0100634
65 visual impairment occasional (7.5%) HP:0000505
66 cafe-au-lait spot occasional (7.5%) HP:0000957
67 gait disturbance occasional (7.5%) HP:0001288
68 increased intracranial pressure occasional (7.5%) HP:0002516
69 meningioma occasional (7.5%) HP:0002858
70 opacification of the corneal stroma occasional (7.5%) HP:0007759
71 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
72 glioma occasional (7.5%) HP:0009733
73 facial palsy occasional (7.5%) HP:0010628
74 unilateral vestibular schwannoma 6% HP:0009590
75 scoliosis rare (5%) HP:0002650
76 astrocytoma 4% HP:0009592
77 seizures 4% HP:0001250
78 tibial pseudoarthrosis 4% HP:0009736
79 ependymoma 2.5% HP:0002888
80 renal artery stenosis 1.5% HP:0001920
81 aqueductal stenosis 1.5% HP:0002410
82 hypsarrhythmia 1.5% HP:0002521
83 genu valgum 1.5% HP:0002857
84 optic glioma 1.5% HP:0009734
85 spinal neurofibromas 1.5% HP:0009735
86 pheochromocytoma very rare (1%) HP:0002666
87 meningioma very rare (1%) HP:0002858
88 glaucoma 0.7% HP:0000501
89 autosomal dominant inheritance HP:0000006
90 occasional neurofibromas HP:0009595
91 peripheral neuropathy HP:0009830
92 epiretinal membrane HP:0100014
93 autosomal dominant inheritance HP:0000006
94 hydrocephalus HP:0000238
95 hypertelorism HP:0000316
96 hypertension HP:0000822
97 axillary freckling HP:0000997
98 intellectual disability, mild HP:0001256
99 overgrowth HP:0001548
100 spina bifida HP:0002414
101 rhabdomyosarcoma HP:0002859
102 parathyroid adenoma HP:0002897
103 astrocytoma HP:0009592
104 inguinal freckling HP:0030052
105 neurofibrosarcoma HP:0100697
106 autosomal dominant inheritance HP:0000006
107 heterogeneous HP:0001425
108 atypical neurofibromatosis HP:0007524
109 lisch nodules HP:0009737

Drugs & Therapeutics for Neurofibromatosis

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Drug clinical trials:

Search ClinicalTrials for Neurofibromatosis

Search NIH Clinical Center for Neurofibromatosis

Genetic Tests for Neurofibromatosis

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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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MalaCards organs/tissues related to Neurofibromatosis:

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

Animal Models for Neurofibromatosis or affiliated genes

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MGI Mouse Phenotypes related to Neurofibromatosis:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5KRAS, NF1, PDGFRA, PTPN11
2MP:00053828.9SPRED1, PTPN11, VHL, PDGFRA, RASA1, NF2
3MP:00053908.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
4MP:00053678.9RET, VHL, PDGFRA, NF2, NF1, KRAS
5MP:00107718.8PTPN11, VHL, PDGFRA, NF2, NF1, KRAS
6MP:00030128.8OMG, SDHB, PTPN11, RET, PDGFRA, RASA1
7MP:00053718.8SPRED1, PTPN11, RET, VHL, PDGFRA, RASA1
8MP:00053698.6PTPN11, RET, VHL, PDGFRA, CREB1, RASA1
9MP:00020068.6SDHD, PTPN11, RET, VHL, PDGFRA, NF2
10MP:00053818.5PTPN11, RET, VHL, PDGFRA, RASA1, KRAS
11MP:00053888.5SPRED1, PTPN11, RET, PDGFRA, CREB1, NF2
12MP:00053898.5PTPN11, RET, VHL, PDGFRA, CREB1, NF2
13MP:00053878.4SPRED1, PTPN11, RET, VHL, PDGFRA, RASA1
14MP:00053868.4SPRED1, SDHD, RET, PDGFRA, CREB1, NF2
15MP:00053978.3SPRED1, PTPN11, RET, VHL, PDGFRA, CRLF3
16MP:00053808.3VHL, RET, PTPN11, SDHD, PDGFRA, CREB1
17MP:00053798.2VHL, RET, PTPN11, SDHD, PDGFRA, CREB1
18MP:00053847.8SDHD, PTPN11, RET, VHL, PDGFRA, CRTAC1
19MP:00053857.8SDHD, PTPN11, APOBEC1, RET, VHL, PDGFRA
20MP:00028737.7HRAS, OMG, SDHD, PTPN11, APOBEC1, RET
21MP:00036317.5PDGFRA, RET, PTPN11, SDHD, SPRED1, CRTAC1
22MP:00107687.5VHL, RET, APOBEC1, PTPN11, SDHD, PDGFRA
23MP:00053787.4VHL, RET, PTPN11, SDHD, SPRED1, PDGFRA
24MP:00053767.0RET, APOBEC1, PTPN11, SDHD, OMG, VHL

Publications for Neurofibromatosis

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Articles related to Neurofibromatosis:

(show top 50)    (show all 1535)
idTitleAuthorsYear
1
(18)F-FDG PET/CT for detection of malignant peripheral nerve sheath tumours in neurofibromatosis type 1: tumour-to-liver ratio is superior to an SUVmax cut-off. (24097302)
2014
2
Anisometropia in children with neurofibromatosis type 1 and unilateral optic nerve glioma. (24924279)
2014
3
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. (24414536)
2014
4
Spontaneous intestinal haematoma associated with neurofibromatosis type-1. (23975920)
2013
5
Plasma S100I^ is not a useful biomarker for tumor burden in neurofibromatosis. (23261835)
2013
6
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. (23668869)
2013
7
BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. (24366910)
2013
8
Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient. (23602237)
2013
9
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
10
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
11
Spontaneous aortic rupture in a patient with neurofibromatosis type 1. (22493769)
2012
12
Screening for mutation site on the type I neurofibromatosis gene in a family. (22207399)
2012
13
Rare synchronous association of vestibular schwannoma and indolent insular oligodendroglioma in a patient without neurofibromatosis: controversial issue of timing for surgical treatment of asymptomatic low-grade gliomas. (23180968)
2012
14
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
15
Synchronous double tumor of breast cancer and gastrointestinal stromal tumor in a patient with neurofibromatosis type 1: report of a case. (22199319)
2011
16
Primary actinomycosis of the foot in a patient with neurofibromatosis: a case report. (21571698)
2011
17
Diffuse scalp malignant peripheral nerve sheath tumor with intracranial extension in a patient with neurofibromatosis type 1. (20655235)
2010
18
Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (20002172)
2010
19
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
20
Evolution and origin of HRS, a protein interacting with Merlin, the Neurofibromatosis 2 gene product. (20054405)
2009
21
Plexiform schwannoma of the esophagus in a child with neurofibromatosis type 2. (19573680)
2009
22
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. (19601812)
2009
23
Diffusion-weighted imaging of retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. (18460849)
2008
24
Neurofibromatosis type I: genetics and clinical manifestations. (18214791)
2008
25
Parathyroid carcinoma and neurofibromatosis. (19081027)
2008
26
Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. (18670066)
2008
27
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
28
Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. (15665300)
2005
29
Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. (15355893)
2004
30
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
31
Neurofibromatosis type 1 tumour suppressor gene expression is deficient in psoriatic skin in vivo and in vitro: a potential link to increased Ras activity. (14996090)
2004
32
Independent NF1 mutations in two large families with spinal neurofibromatosis. (12566521)
2003
33
Quinidine impairs proliferation of neurofibromatosis type 2-deficient human malignant mesothelioma cells. (12673723)
2003
34
Establishing priorities in neurofibromatosis research: a workshop summary. (11388764)
2001
35
Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses. (11359370)
2001
36
An additional case of solitary subungual glomus tumor associated with neurofibromatosis 1. (10920593)
2000
37
Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. (10863097)
2000
38
Multiple intracranial and intraspinal meningiomas in the neurocristopathy (phacomatosis) type of neurofibromatosis]. (11378907)
2000
39
NF1 gene and neurofibromatosis 1. (10625171)
2000
40
Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma. (9477139)
1997
41
Prolonged extreme thrombocytosis associated with neurofibromatosis type 1. (9042140)
1997
42
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (8985499)
1996
43
Neurofibromatosis 2: loss of merlin's protective spell. (8791482)
1996
44
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. (7868131)
1995
45
Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1). (7794530)
1995
46
Multiple transcripts of the neurofibromatosis type 1 gene in human brain and in brain tumours. (7874833)
1994
47
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). (8089100)
1994
48
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. (1570015)
1992
49
A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene. (1937470)
1991
50
Anterolateral cervical meningocele in association with neurofibromatosis: MR and CT studies. (2501361)
1989

Variations for Neurofibromatosis

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UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis:

64 (show all 95)
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
76NF1p.Cys93TrpVAR_071668
77NF1p.Trp1048ArgVAR_071669
78NF1p.Gln1189ArgVAR_071670
79NF1p.Leu2125ProVAR_071671
80NF2p.Phe62SerVAR_000810
81NF2p.Glu106GlyVAR_000813
82NF2p.Asn220TyrVAR_000818
83NF2p.Thr352MetVAR_000821
84NF2p.Leu360ProVAR_000822
85NF2p.Leu535ProVAR_000825
86NF2p.Gln538ProVAR_000826
87NF2p.Leu234ArgVAR_009123
88NF2p.Met77ValVAR_043011
89NF2p.Leu141ProVAR_043012
90NF2p.Gly197CysVAR_043013
91NF2p.Lys413GluVAR_043014
92NF2p.Lys533ThrVAR_043015
93NF2p.Leu539HisVAR_043016
94NF2p.Lys579MetVAR_043017
95NF2p.Cys133ArgVAR_065227

Clinvar genetic disease variations for Neurofibromatosis:

6 (show all 49)
id Gene Name Type Significance SNP ID Assembly Location
1NF2NM_000268.3(NF2): c.1079T> C (p.Leu360Pro)single nucleotide variantPathogenicrs74315492GRCh37Chr 22, 30067894: 30067894
2NF2NM_000268.3(NF2): c.240+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 22, 30032866: 30032866
3NF2NM_000268.3(NF2): c.1604T> C (p.Leu535Pro)single nucleotide variantPathogenicrs74315493GRCh37Chr 22, 30077457: 30077457
4NF2NM_000268.3(NF2): c.1613A> C (p.Gln538Pro)single nucleotide variantPathogenicrs74315494GRCh37Chr 22, 30077466: 30077466
5NF2NM_000268.3(NF2): c.286_288delTTC (p.Phe96del)deletionPathogenicrs121434260GRCh37Chr 22, 30035124: 30035126
6NF2NM_000268.3(NF2): c.544G> T (p.Glu182Ter)single nucleotide variantPathogenicrs74315495GRCh37Chr 22, 30051610: 30051610
7NF2NM_000268.3(NF2): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs74315496GRCh37Chr 22, 30057302: 30057302
8NF2NM_000268.3(NF2): c.958C> T (p.Gln320Ter)single nucleotide variantPathogenicrs74315497GRCh37Chr 22, 30064394: 30064394
9NF2NM_000268.3(NF2): c.1021C> T (p.Arg341Ter)single nucleotide variantPathogenicrs74315499GRCh37Chr 22, 30067836: 30067836
10NF2NM_000268.3(NF2): c.1219C> T (p.Gln407Ter)single nucleotide variantPathogenicrs74315501GRCh37Chr 22, 30069354: 30069354
11NF2NM_000268.3(NF2): c.1387G> T (p.Glu463Ter)single nucleotide variantPathogenicrs74315503GRCh37Chr 22, 30070871: 30070871
12NF2NM_000268.3(NF2): c.1396C> T (p.Arg466Ter)single nucleotide variantPathogenicrs74315504GRCh37Chr 22, 30070880: 30070880
13NF2NM_000268.3(NF2): c.1579G> T (p.Glu527Ter)single nucleotide variantPathogenicrs74315505GRCh37Chr 22, 30077432: 30077432
14NF2NM_000268.3(NF2): c.185T> C (p.Phe62Ser)single nucleotide variantPathogenicrs121434261GRCh37Chr 22, 30032810: 30032810
15NF1NF1, ALU INSinsertionPathogenic
16NF1NF1, 5-BP DELdeletionPathogenic
17NF1NM_000267.3(NF1): c.5795T> C (p.Leu1932Pro)single nucleotide variantPathogenicrs199474792GRCh37Chr 17, 29661901: 29661901
18NF1NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter)single nucleotide variantPathogenicrs267606595GRCh37Chr 17, 29661951: 29661951
19NF1NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)single nucleotide variantPathogenicrs137854550GRCh37Chr 17, 29585518: 29585518
20NF1NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs)duplicationPathogenicrs267606596GRCh37Chr 17, 29654759: 29654760
21NF1NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs)insertionPathogenicrs267606597GRCh37Chr 17, 29654776: 29654777
22NF1NM_000267.3(NF1): c.6427C> A (p.Leu2143Met)single nucleotide variantPathogenicrs137854551GRCh37Chr 17, 29664448: 29664448
23NF1NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn)single nucleotide variantPathogenicrs267606598GRCh37Chr 17, 29664532: 29664532
24NF1NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter)single nucleotide variantPathogenicrs137854552GRCh37Chr 17, 29661945: 29661945
25NF1NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter)single nucleotide variantPathogenicrs137854560GRCh37Chr 17, 29576111: 29576111
26NF1NM_000267.3(NF1): c.3113+1G> Asingle nucleotide variantPathogenicrs267606599GRCh37Chr 17, 29557401: 29557401
27NF1NM_000267.3(NF1): c.1541_1542delAG (p.Gln514Argfs)deletionPathogenicrs267606600GRCh37Chr 17, 29546036: 29546037
28NF1NM_000267.3(NF1): c.3104T> G (p.Met1035Arg)single nucleotide variantPathogenicrs137854553GRCh37Chr 17, 29557391: 29557391
29NF1NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser)single nucleotide variantPathogenicrs137854554GRCh37Chr 17, 29585424: 29585424
30NF1NM_000267.3(NF1): c.8042dupA (p.Tyr2681Terfs)duplicationPathogenicrs267606601GRCh37Chr 17, 29685632: 29685633
31NF1NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro)single nucleotide variantPathogenicrs137854556GRCh37Chr 17, 29562747: 29562747
32NF1NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys)single nucleotide variantPathogenicrs137854557GRCh37Chr 17, 29541542: 29541542
33NF1NM_000267.3(NF1): c.1523T> C (p.Leu508Pro)single nucleotide variantPathogenicrs137854558GRCh37Chr 17, 29541599: 29541599
34NF1NM_000267.3(NF1): c.1260+1G> Asingle nucleotide variantPathogenicrs267606603GRCh37Chr 17, 29528504: 29528504
35NF1NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter)single nucleotide variantPathogenicrs137854559GRCh37Chr 17, 29576048: 29576048
36NF1NM_000267.3(NF1): c.6200T> C (p.Leu2067Pro)single nucleotide variantPathogenicrs137854561GRCh37Chr 17, 29663768: 29663768
37NF1NM_000267.3(NF1): c.5944-5A> Gsingle nucleotide variantPathogenicrs267606604GRCh37Chr 17, 29663346: 29663346
38NF1NF1, DELdeletionPathogenic
39NF1NM_000267.3(NF1): c.3721C> T (p.Arg1241Ter)single nucleotide variantPathogenicrs137854562GRCh37Chr 17, 29562641: 29562641
40NF1NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs)duplicationPathogenicrs267606605GRCh37Chr 17, 29654717: 29654718
41NF1NF1, 1-BP DEL, 3775TdeletionPathogenic
42NF1NM_000267.3(NF1): c.1070T> C (p.Leu357Pro)single nucleotide variantPathogenicrs137854563GRCh37Chr 17, 29528062: 29528062
43NF1NM_000267.3(NF1): c.7126+3A> Csingle nucleotide variantPathogenicrs267606610GRCh37Chr 17, 29670156: 29670156
44NF1NF1, 1-BP DEL, 4071CdeletionPathogenic
45NF1NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro)single nucleotide variantPathogenicrs137854564GRCh37Chr 17, 29562648: 29562648
46NF1NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter)single nucleotide variantPathogenicrs137854565GRCh37Chr 17, 29657477: 29657477
47NF1NM_000267.3(NF1): c.2531T> G (p.Leu844Arg)single nucleotide variantPathogenicrs137854566GRCh37Chr 17, 29556164: 29556164
48NF1NF1, IVS27DS, G-C, +1single nucleotide variantPathogenic
49NF1NM_000267.3(NF1): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs397514641GRCh37Chr 17, 29497003: 29497003

Expression for genes affiliated with Neurofibromatosis

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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

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Pathways related to Neurofibromatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1NF1, PTPN11
2
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.8HRAS, NF1, RASA1
39.8RASA1, NF1, HRAS
4
Show member pathways
IL-2 Signaling pathway37
9.8RASA1, HRAS, PTPN11
5
Show member pathways
Insulin Pathway37
9.8PTPN11, HRAS, RASA1
6
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.8PTPN11, RASA1, HRAS
79.8PTPN11, HRAS, RASA1
89.7NF1, CREB1, PDGFRA
99.7PTPN11, CREB1, HRAS
10
Show member pathways
Development Flt3 signaling60
9.7CREB1, PTPN11, HRAS
119.7CREB1, HRAS, PTPN11
129.7RET, HRAS, RASA1
139.7HRAS, KRAS, PTPN11
14
Show member pathways
9.7HRAS, KRAS, PTPN11
15
Show member pathways
9.7PTPN11, HRAS, KRAS
169.6PDGFRA, HRAS, NF1, NF2
179.6RET, HRAS, KRAS
18
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.6HRAS, SPRED1, PTPN11, RASA1
19
Show member pathways
9.5KRAS, HRAS, CREB1
20
Show member pathways
9.5CREB1, HRAS, KRAS
21
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.5RASA1, PDGFRA, PTPN11, HRAS
22
Show member pathways
VEGFR1 specific signals37
9.5PTPN11, VHL, RASA1, HRAS
239.4NF2, VHL, RET, CREB1
249.4KRAS, PTPN11, VHL, HRAS
25
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.3CREB1, HRAS, RET, RASA1
269.3KRAS, HRAS, PTPN11, CREB1
27
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.3PTPN11, HRAS, KRAS, CREB1
28
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.3PTPN11, CREB1, KRAS, HRAS
29
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.3HRAS, CREB1, PTPN11, KRAS
30
Show member pathways
9.3RET, KRAS, HRAS, PDGFRA
319.3CREB1, HRAS, KRAS, PDGFRA
32
Show member pathways
G protein signaling M RAS regulation pathway60
9.2RASA2, RASA1, NF1
33
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.2HRAS, PTPN11, PDGFRA, NF2, KRAS
349.1RET, CREB1, RASA1, PTPN11, HRAS
35
Show member pathways
Signaling Pathways in Glioblastoma37
9.1KRAS, NF1, PDGFRA, HRAS, CREB1
36
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.1HRAS, RASA1, CREB1, PTPN11, KRAS
379.1KRAS, PTPN11, HRAS, CREB1, RASA1
38
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.1CREB1, HRAS, RASA1, PTPN11, KRAS
39
Show member pathways
9.1PTPN11, HRAS, PDGFRA, CREB1, KRAS
40
Show member pathways
9.1KRAS, HRAS, CREB1, PTPN11, PDGFRA
419.0RET, VHL, KRAS, PDGFRA, HRAS
42
Show member pathways
8.9RASA1, NF1, HRAS, VHL, PDGFRA, CREB1
43
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.8KRAS, PDGFRA, PTPN11, HRAS, CREB1, RASA1
44
Show member pathways
8.8PTPN11, VHL, KRAS, CREB1, HRAS, PDGFRA
458.7HRAS, KRAS, CREB1, RASA2
46
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.5CREB1, HRAS, PDGFRA, RASA2, KRAS
47
Show member pathways
8.5HRAS, OMG, PTPN11, CREB1, RASA1, KRAS
48
Show member pathways
8.5RASA1, CREB1, KRAS, HRAS, PDGFRA, PTPN11
49
Show member pathways
MAPK signaling pathway37
8.4RASA2, KRAS, PDGFRA, NF1, RASA1, HRAS
50
Show member pathways
8.2NF1, RASA2, PDGFRA, PTPN11, KRAS, HRAS

Compounds for genes affiliated with Neurofibromatosis

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Compounds related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1Fumaric acid2410.3SDHB, SDHD
23-nitropropionic acid4410.2SDHB, CREB1
3fumarate44 1111.1SDHB, SDHD, VHL
4guanosine44 24 1112.1HRAS, NF1, RASA1
5mibg4410.0SDHD, SDHB
6sunitinib44 50 1112.0PDGFRA, VHL, RET
7regorafenib50 1110.9RET, PDGFRA, KRAS
8catecholamine449.9RET, SDHD, SDHB
9methionine449.8HRAS, NF1, RET, PTPN11
10herbimycin a44 6110.7PTPN11, RET, CREB1, HRAS
11imatinib44 50 1111.7KRAS, PDGFRA, RET, PTPN11
12succinate449.7SDHB, SDHD, RET, VHL, NF1
13glycogen44 2410.6SDHB, PTPN11, VHL, CREB1
14ponatinib50 1110.6PDGFRA, RET
15agar449.6NF2, CREB1, RET, PTPN11, HRAS
16phosphoinositide449.5HRAS, KRAS, CREB1, PTPN11
17aspartate449.4HRAS, PDGFRA, RET, SDHB
18wortmannin449.4HRAS, KRAS, CREB1, RET, PTPN11
19arginine449.4SDHB, PTPN11, RET, RASA1, NF1, HRAS
20h2o2449.4SDHB, PTPN11, CREB1, KRAS, HRAS
21alanine449.4SDHB, PTPN11, RET, RASA1, NF1
22paraffin449.4RET, PDGFRA, NF2, NF1, KRAS, HRAS
23dopamine44 28 24 1112.3SDHB, RET, CREB1, NF1
24threonine449.3PTPN11, RET, CREB1, NF2, HRAS
25gdp449.3RASA1, RASA2, NF1, HRAS
26oxygen44 2410.2SDHB, SDHD, PTPN11, VHL, KRAS, HRAS
27cysteine449.2SDHB, PTPN11, RET, CREB1, NF2, NF1
28ly294002449.2PTPN11, RET, VHL, CREB1, KRAS, HRAS
29guanine44 24 1111.2HRAS, RASA2, RASA1, CREB1
30estrogen449.1VHL, PDGFRA, CREB1, NF1, KRAS, HRAS
31retinoic acid44 2410.1RET, PDGFRA, CREB1, NF1, KRAS, HRAS
32atp44 2810.1SDHB, PTPN11, RET, PDGFRA, CREB1, NF1
33arachidonic acid44 28 24 1112.1HRAS, NF1, RASA2, RASA1
34phenylalanine449.0PTPN11, RET, RASA1, RASA2, HRAS
35gtp44 2810.0RASA1, RASA2, NF1, KRAS, HRAS
36rapamycin448.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
37phosphotyrosine448.8PTPN11, RET, PDGFRA, RASA1, RASA2, HRAS
38oligonucleotide448.7PTPN11, RET, VHL, PDGFRA, CREB1, NF1
39vegf448.7SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
40serine448.5PTPN11, RET, VHL, CREB1, RASA1, NF2
41lipid447.8SDHB, PTPN11, APOBEC1, RET, CREB1, RASA2
42calcium44 50 24 1110.8SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
43phosphatidylinositol447.7HRAS, PTPN11, RET, VHL, PDGFRA, CREB1
44tyrosine447.3PDGFRA, VHL, RET, PTPN11, SDHB, CREB1

GO Terms for genes affiliated with Neurofibromatosis

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Cellular components related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.0SDHD, SDHB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.1NF1, RASA2, RASA1
3cytoplasmGO:0057376.8SPRED1, PTPN11, APOBEC1, RNF135, PDGFRA, CRLF3

Biological processes related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of MAPK cascadeGO:04340910.3NF1, NF2
2negative regulation of cell-matrix adhesionGO:00195310.2RASA1, NF2, NF1
3positive regulation of hormone secretionGO:04688710.2CREB1, PTPN11
4positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.2NF1, RET
5positive regulation of Rac protein signal transductionGO:03502210.2KRAS, HRAS
6striated muscle cell differentiationGO:05114610.1KRAS, HRAS
7regulation of synaptic transmission, GABAergicGO:03222810.1HRAS, KRAS, NF1
8adrenal gland developmentGO:03032510.0PDGFRA, NF1
9regulation of long-term neuronal synaptic plasticityGO:04816910.0NF1, KRAS, HRAS
10visual learningGO:00854210.0HRAS, KRAS, NF1
11Ras protein signal transductionGO:00726510.0HRAS, KRAS, NF1
12leukocyte migrationGO:0509009.9PTPN11, KRAS, HRAS
13actin cytoskeleton organizationGO:0300369.8NF2, NF1, KRAS, HRAS
14phosphatidylinositol-mediated signalingGO:0480159.8PTPN11, PDGFRA, CREB1
15positive regulation of cell migrationGO:0303359.8HRAS, PDGFRA, RET
16negative regulation of neuron apoptotic processGO:0435249.8RASA1, KRAS, HRAS
17MAPK cascadeGO:0001659.7HRAS, KRAS, NF1, RET
18insulin receptor signaling pathwayGO:0082869.7HRAS, KRAS, PTPN11
19axon guidanceGO:0074119.6HRAS, KRAS, CREB1, PTPN11
20positive regulation of Ras GTPase activityGO:0323209.6NF1, RASA2, RASA1
21negative regulation of Ras protein signal transductionGO:0465809.6RASA1, RASA2, NF1
22regulation of axonogenesisGO:0507709.5OMG, RET
23fibroblast growth factor receptor signaling pathwayGO:0085439.5PTPN11, PDGFRA, CREB1, KRAS, HRAS
24Fc-epsilon receptor signaling pathwayGO:0380959.4PTPN11, PDGFRA, CREB1, KRAS, HRAS
25epidermal growth factor receptor signaling pathwayGO:0071739.4HRAS, KRAS, CREB1, PDGFRA, PTPN11
26innate immune responseGO:0450879.2HRAS, KRAS, CREB1, PDGFRA, RNF135, PTPN11
27positive regulation of transcription, DNA-templatedGO:0458939.1CREB1, CRLF3, VHL, RET
28neurotrophin TRK receptor signaling pathwayGO:0480119.1HRAS, OMG, PTPN11, PDGFRA, CREB1, KRAS
29signal transductionGO:0071658.4HRAS, RASA2, RASA1, CREB1, RET

Molecular functions related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:04803910.0SDHD, SDHB
2Ras GTPase activator activityGO:0050998.9NF1, RASA2, RASA1
3protein bindingGO:0055156.7HRAS, SPRED1, SDHB, PTPN11, APOBEC1, RNF135

Products for genes affiliated with Neurofibromatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Neurofibromatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet