MCID: NRF002
MIFTS: 79

Neurofibromatosis malady

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

Summaries for Neurofibromatosis

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

MalaCards based summary: Neurofibromatosis, also known as von recklinghausen disease, is related to neurofibromatosis, type 2 and neurofibroma, and has symptoms including autosomal dominant inheritance, heterogeneous and atypical neurofibromatosis. 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.

NIH Rare Diseases:43 Neurofibromatosis (nf) is a genetic condition that causes tumors to develop in the nervous system. there are three types of neurofibromatosis that are each associated with unique signs and symptoms:neurofibromatosis type 1 (nf1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bones abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. signs and symptoms are usually present at birth. neurofibromatosis type 2 (nf2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. it often starts in the teen years. schwannomatosis causes schwannomas, pain, numbness, weakness, and balance problems. it is the rarest type. all three types of nf are inherited in an autosomal dominant manner. there is no cure for neurofibromatosis. treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and medicines. last updated: 11/30/2014

NINDS:44 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.

Genetics Home Reference:23 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.

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

GeneReviews summary for nf2

GeneReviews summary for nf1

Aliases & Classifications for Neurofibromatosis

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Neurofibromatosis, Aliases & Descriptions:

Name: Neurofibromatosis 10 65 43 44 12 45 34
Von Recklinghausen Disease 65 21 43 23 62
Neurofibromatosis Type 1 10 43 23 45 62
Peripheral Neurofibromatosis 10 65 23 62
Neurofibromatosis 1 10 21 23 62
Bilateral Acoustic Neurofibromatosis 65 21 43
Neurofibromatosis Type Ii 65 21 43
Central Neurofibromatosis 10 21 62
Neurofibromatosis Type 2 10 43 62
Neurofibromatosis 2 21 22 62
Nf1 21 43 23
Recklinghausen's Neurofibromatosis 10 62
Recklinghausen Disease, Nerve 65 23
Acoustic Neurofibromatosis 10 62
Multiple Neurofibromatosis 65 62
Neurofibromatosis Type Iv 10 24
Neurofibromatosis Type 4 10 43
Type 1 Neurofibromatosis 43 22
Nf2 21 43
Von Recklinghausen's Neurofibromatosis 21
 
Neurofibromatosis, Type 4, of Riccardi 62
Neurofibromatosis, Acoustic, Bilateral 62
Type Iv Neurofibromatosis of Riccardi 10
Neurofibromatosis Type 4 of Riccardi 43
Schwannoma, Acoustic, Bilateral 65
Familial Vestibular Schwannoma 62
Acoustic Schwannomas Bilateral 43
Neurofibromatosis Central Type 43
Acoustic Neurinoma Bilateral 43
Von Recklinghausen's Disease 44
Neurofibromatosis, Atypical 43
Familial Acoustic Neuromas 62
Familial Acoustic Neuroma 65
Neurofibromatosis, Type 1 62
Von Reklinghausen Disease 10
Neurofibromatosis Type I 65
Recklinghausen's Disease 43
Neurofibromatoses 62
Banf 65


Classifications:



External Ids:

Disease Ontology10 DOID:8712
ICD9CM29 237.71
NCIt40 C3273
ICD1027 Q85.0

Related Diseases for Neurofibromatosis

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Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type 1 Neurofibromatosis, Type 2
Neurofibromatosis Type 3a Neurofibromatosis Type 3b
Neurofibromatosis Type 5 Neurofibromatosis Type 6
Neurofibromatosis Type 1 Due to Nf1mutation or Intragenic Deletion

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

(show top 50)    (show all 478)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis, type 231.4SDHB, SDHD, NF2, NF1
2neurofibroma31.3PDGFRA, NF2, NF1
3malignant peripheral nerve sheath tumor31.1PDGFRA, NF2, NF1
4plexiform neurofibroma31.1PDGFRA, NF1
5neurofibromatosis-noonan syndrome30.9PTPN11, NF1
6gastrointestinal stromal tumor30.8SDHB, PDGFRA, NF2, NF1
7neurofibrosarcoma30.8NF1, NF2
8legius syndrome30.7SPRED1
9leukemia30.7PTPN11, PDGFRA, CREB1, RASA2, NF1, KRAS
10pheochromocytoma30.6SDHB, SDHD, RET, VHL, CREB1, NF1
11astrocytoma30.6VHL, PDGFRA, NF2, NF1, HRAS
12piebaldism30.4PDGFRA
13adenocarcinoma30.4VHL, CREB1, NF2, KRAS, HRAS
14ependymoma30.4NF1, NF2, PDGFRA
15phaeochromocytoma30.3RET, SDHD, SDHB
16breast cancer30.3SDHB, PTPN11, VHL, RASA1, NF2, NF1
17glomus tumor30.3SDHB, SDHD, VHL
18learning disability30.3NF1
19sarcoma30.3PDGFRA, NF2, NF1, KRAS, HRAS
20neuroma30.2RET
21glioblastoma30.2PTPN11, VHL, PDGFRA, CREB1, NF1, HRAS
22leopard syndrome30.2HRAS, PTPN11
23colorectal cancer30.2CREB1, NF1, KRAS, HRAS
24hyperparathyroidism30.2SDHB, SDHD, RET, NF1
25cherubism30.1PTPN11
26multiple endocrine neoplasia30.1SDHB, SDHD, RET, VHL, NF2, NF1
27acoustic neuroma30.1VHL, NF2, NF1
28neuroendocrine tumor30.1SDHD, RET, PDGFRA, NF1
29acute leukemia30.0PTPN11, CREB1, NF1, KRAS, HRAS
30melanoma30.0PTPN11, PDGFRA, CREB1, NF2, NF1, KRAS
31myeloid leukemia30.0PTPN11, CREB1, NF1, HRAS
32noonan syndrome 130.0PTPN11
33neurilemmoma30.0NF2, NF1
34adenoma30.0RET, VHL, CREB1, KRAS, HRAS
35chronic myelomonocytic leukemia29.9NF1, PDGFRA, PTPN11
36malignant glioma29.9NF1, NF2, PDGFRA
37prostate cancer29.8KRAS, NF2, RASA2, CREB1, PDGFRA, PTPN11
38leukemia, juvenile myelomonocytic29.8PTPN11, NF1
39leiomyomatosis29.7VHL, SDHB
40carney triad29.7SDHB, SDHD, PDGFRA
41developmental disabilities29.7PTPN11, RET, HRAS
42costello syndrome29.7PTPN11, KRAS, HRAS
43cystadenoma29.7KRAS, VHL
44myelodysplastic syndrome29.7PTPN11, PDGFRA, NF1, KRAS
45paraganglioma29.7SDHB, SDHD, RET, VHL, NF1
46hemangioma29.7SDHB, SDHD, RET, VHL, NF1
47mental retardation29.7PTPN11, VHL, CREB1, NF1, HRAS
48hepatocellular carcinoma29.6APOBEC1, PDGFRA, CREB1, KRAS, HRAS
49lung cancer29.6HRAS, KRAS, PDGFRA, VHL
50neurofibromatosis, type 111.2

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Symptoms for Neurofibromatosis

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HPO human phenotypes related to Neurofibromatosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 atypical neurofibromatosis HP:0007524
4 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 122 NF1
2 Neurofibromatosis 222 NF2
3 Neurofibromatosis Type 424

Anatomical Context for Neurofibromatosis

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MalaCards organs/tissues related to Neurofibromatosis:

33
Brain, Skin, Bone, Testes, Breast, Spinal cord, Lung, Thyroid, Colon, Myeloid, Kidney, Pancreas, Endothelial, Eye, Retina, Liver, Adrenal gland, Prostate, T cells, Bone marrow, Cortex, Smooth muscle, Small intestine, 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:

37 (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 1578)
idTitleAuthorsYear
1
Pseudoangiomatous stromal hyperplasia with multinucleated stromal giant cells is neither exceptional in gynecomastia nor characteristic of neurofibromatosis type 1. (25586494)
2015
2
Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis: Case report and literature review. (25709169)
2015
3
(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
4
Anisometropia in children with neurofibromatosis type 1 and unilateral optic nerve glioma. (24924279)
2014
5
Spontaneous intestinal haematoma associated with neurofibromatosis type-1. (23975920)
2013
6
Plasma S100I^ is not a useful biomarker for tumor burden in neurofibromatosis. (23261835)
2013
7
Depletion of the novel p53-target gene carnitine palmitoyltransferase 1C delays tumor growth in the neurofibromatosis type I tumor model. (23412344)
2013
8
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. (23668869)
2013
9
BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. (24366910)
2013
10
Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient. (23602237)
2013
11
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
12
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
13
Spontaneous aortic rupture in a patient with neurofibromatosis type 1. (22493769)
2012
14
Screening for mutation site on the type I neurofibromatosis gene in a family. (22207399)
2012
15
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
16
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
17
Synchronous double tumor of breast cancer and gastrointestinal stromal tumor in a patient with neurofibromatosis type 1: report of a case. (22199319)
2011
18
Primary actinomycosis of the foot in a patient with neurofibromatosis: a case report. (21571698)
2011
19
Diffuse scalp malignant peripheral nerve sheath tumor with intracranial extension in a patient with neurofibromatosis type 1. (20655235)
2010
20
Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (20002172)
2010
21
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
22
Evolution and origin of HRS, a protein interacting with Merlin, the Neurofibromatosis 2 gene product. (20054405)
2009
23
Plexiform schwannoma of the esophagus in a child with neurofibromatosis type 2. (19573680)
2009
24
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. (19601812)
2009
25
Diffusion-weighted imaging of retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. (18460849)
2008
26
Neurofibromatosis type I: genetics and clinical manifestations. (18214791)
2008
27
Parathyroid carcinoma and neurofibromatosis. (19081027)
2008
28
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
29
Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. (15665300)
2005
30
Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. (15355893)
2004
31
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
32
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
33
Independent NF1 mutations in two large families with spinal neurofibromatosis. (12566521)
2003
34
Quinidine impairs proliferation of neurofibromatosis type 2-deficient human malignant mesothelioma cells. (12673723)
2003
35
Establishing priorities in neurofibromatosis research: a workshop summary. (11388764)
2001
36
Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses. (11359370)
2001
37
An additional case of solitary subungual glomus tumor associated with neurofibromatosis 1. (10920593)
2000
38
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
39
Multiple intracranial and intraspinal meningiomas in the neurocristopathy (phacomatosis) type of neurofibromatosis]. (11378907)
2000
40
NF1 gene and neurofibromatosis 1. (10625171)
2000
41
Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma. (9477139)
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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Clinvar genetic disease variations for Neurofibromatosis:

7 (show all 40)
id Gene Variation 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
15NF1NM_000267.3(NF1): c.5795T> C (p.Leu1932Pro)single nucleotide variantPathogenicrs199474792GRCh37Chr 17, 29661901: 29661901
16NF1NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter)single nucleotide variantPathogenicrs267606595GRCh37Chr 17, 29661951: 29661951
17NF1NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)single nucleotide variantPathogenicrs137854550GRCh37Chr 17, 29585518: 29585518
18NF1NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs)duplicationPathogenicrs267606596GRCh37Chr 17, 29654759: 29654760
19NF1NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs)insertionPathogenicrs267606597GRCh37Chr 17, 29654776: 29654777
20NF1NM_000267.3(NF1): c.6427C> A (p.Leu2143Met)single nucleotide variantPathogenicrs137854551GRCh37Chr 17, 29664448: 29664448
21NF1NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn)single nucleotide variantPathogenicrs267606598GRCh37Chr 17, 29664532: 29664532
22NF1NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter)single nucleotide variantPathogenicrs137854552GRCh37Chr 17, 29661945: 29661945
23NF1NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter)single nucleotide variantPathogenicrs137854560GRCh37Chr 17, 29576111: 29576111
24NF1NM_000267.3(NF1): c.3113+1G> Asingle nucleotide variantPathogenicrs267606599GRCh37Chr 17, 29557401: 29557401
25NF1NM_000267.3(NF1): c.1541_1542delAG (p.Gln514Argfs)deletionPathogenicrs267606600GRCh37Chr 17, 29546036: 29546037
26NF1NM_000267.3(NF1): c.3104T> G (p.Met1035Arg)single nucleotide variantPathogenicrs137854553GRCh37Chr 17, 29557391: 29557391
27NF1NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser)single nucleotide variantPathogenicrs137854554GRCh37Chr 17, 29585424: 29585424
28NF1NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro)single nucleotide variantPathogenicrs137854556GRCh37Chr 17, 29562747: 29562747
29NF1NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys)single nucleotide variantPathogenicrs137854557GRCh37Chr 17, 29541542: 29541542
30NF1NM_000267.3(NF1): c.1523T> C (p.Leu508Pro)single nucleotide variantPathogenicrs137854558GRCh37Chr 17, 29541599: 29541599
31NF1NM_000267.3(NF1): c.1260+1G> Asingle nucleotide variantPathogenicrs267606603GRCh37Chr 17, 29528504: 29528504
32NF1NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter)single nucleotide variantPathogenicrs137854559GRCh37Chr 17, 29576048: 29576048
33NF1NM_000267.3(NF1): c.5944-5A> Gsingle nucleotide variantPathogenicrs267606604GRCh37Chr 17, 29663346: 29663346
34NF1NM_000267.3(NF1): c.3721C> T (p.Arg1241Ter)single nucleotide variantPathogenicrs137854562GRCh37Chr 17, 29562641: 29562641
35NF1NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs)duplicationPathogenicrs267606605GRCh37Chr 17, 29654717: 29654718
36NF1NM_000267.3(NF1): c.1070T> C (p.Leu357Pro)single nucleotide variantPathogenicrs137854563GRCh37Chr 17, 29528062: 29528062
37NF1NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro)single nucleotide variantPathogenicrs137854564GRCh37Chr 17, 29562648: 29562648
38NF1NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter)single nucleotide variantPathogenicrs137854565GRCh37Chr 17, 29657477: 29657477
39NF1NM_000267.3(NF1): c.2531T> G (p.Leu844Arg)single nucleotide variantPathogenicrs137854566GRCh37Chr 17, 29556164: 29556164
40NF1NM_000267.3(NF1): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs397514641GRCh37Chr 17, 29497003: 29497003

Expression for genes affiliated with Neurofibromatosis

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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
110.1PTPN11, NF1
2
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.8RASA1, NF1, HRAS
39.8RASA1, NF1, HRAS
49.8HRAS, RASA1, PTPN11
5
Show member pathways
Insulin Pathway38
9.8HRAS, RASA1, PTPN11
6
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
9.8PTPN11, RASA1, HRAS
7
Show member pathways
IL-2 Signaling pathway38
9.8PTPN11, RASA1, HRAS
89.7PDGFRA, CREB1, NF1
9
Show member pathways
Development Flt3 signaling60
9.7PTPN11, CREB1, HRAS
109.7PTPN11, CREB1, HRAS
119.7PTPN11, CREB1, HRAS
129.7RET, RASA1, HRAS
13
Show member pathways
9.7HRAS, KRAS, PTPN11
14
Show member pathways
9.7PTPN11, KRAS, HRAS
159.7PTPN11, KRAS, HRAS
169.6HRAS, NF1, NF2, PDGFRA
179.6RET, KRAS, HRAS
18
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.6SPRED1, PTPN11, RASA1, HRAS
19
Show member pathways
9.5HRAS, KRAS, CREB1
20
Show member pathways
9.5CREB1, KRAS, HRAS
21
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.5PTPN11, PDGFRA, RASA1, HRAS
22
Show member pathways
VEGFR1 specific signals38
9.5PTPN11, VHL, RASA1, HRAS
239.4RET, VHL, CREB1, NF2
249.4PTPN11, VHL, KRAS, HRAS
25
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.3RET, CREB1, RASA1, HRAS
26
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.3HRAS, KRAS, CREB1, PTPN11
27
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3HRAS, KRAS, CREB1, PTPN11
28
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
9.3PTPN11, CREB1, KRAS, HRAS
299.3PTPN11, CREB1, KRAS, HRAS
30
Show member pathways
9.3RET, PDGFRA, KRAS, HRAS
319.3HRAS, KRAS, CREB1, PDGFRA
32
Show member pathways
G protein signaling M RAS regulation pathway60
9.2NF1, RASA2, RASA1
33
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
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
9.2PTPN11, PDGFRA, NF2, KRAS, HRAS
349.1HRAS, RASA1, CREB1, RET, PTPN11
35
Show member pathways
Signaling Pathways in Glioblastoma38
9.1PDGFRA, CREB1, NF1, KRAS, HRAS
36
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.1HRAS, KRAS, RASA1, CREB1, PTPN11
379.1PTPN11, CREB1, RASA1, KRAS, HRAS
38
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.1PTPN11, CREB1, RASA1, KRAS, HRAS
39
Show member pathways
9.1PTPN11, PDGFRA, CREB1, KRAS, HRAS
40
Show member pathways
9.1PTPN11, PDGFRA, CREB1, KRAS, HRAS
419.0HRAS, KRAS, PDGFRA, VHL, RET
42
Show member pathways
8.9VHL, PDGFRA, CREB1, RASA1, NF1, HRAS
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 Receptor38
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
8.8PTPN11, PDGFRA, CREB1, RASA1, KRAS, HRAS
44
Show member pathways
8.8PTPN11, VHL, PDGFRA, CREB1, KRAS, HRAS
458.7HRAS, KRAS, RASA2, CREB1
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
8.5PDGFRA, CREB1, RASA2, KRAS, HRAS
47
Show member pathways
8.5PTPN11, PDGFRA, CREB1, RASA1, KRAS, HRAS
48
Show member pathways
8.5OMG, PTPN11, PDGFRA, CREB1, RASA1, KRAS
49
Show member pathways
MAPK signaling pathway38
8.4PDGFRA, RASA1, RASA2, NF1, KRAS, HRAS
50
Show member pathways
8.2PTPN11, PDGFRA, RASA1, RASA2, NF1, KRAS

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 acid2610.3SDHB, SDHD
23-nitropropionic acid4510.2SDHB, CREB1
3fumarate45 1311.1SDHB, SDHD, VHL
4guanosine45 26 1312.1HRAS, NF1, RASA1
5mibg4510.0SDHD, SDHB
6sunitinib45 51 1312.0PDGFRA, VHL, RET
7regorafenib51 1310.9RET, PDGFRA, KRAS
8catecholamine459.9RET, SDHD, SDHB
9methionine459.8HRAS, NF1, RET, PTPN11
10herbimycin a45 6110.7PTPN11, RET, CREB1, HRAS
11imatinib45 51 1311.7KRAS, PDGFRA, RET, PTPN11
12succinate459.7SDHB, SDHD, RET, VHL, NF1
13glycogen45 2610.6SDHB, PTPN11, VHL, CREB1
14ponatinib51 1310.6PDGFRA, RET
15agar459.6NF2, CREB1, RET, PTPN11, HRAS
16phosphoinositide459.5HRAS, KRAS, CREB1, PTPN11
17aspartate459.4HRAS, PDGFRA, RET, SDHB
18wortmannin459.4HRAS, KRAS, CREB1, RET, PTPN11
19arginine459.4SDHB, PTPN11, RET, RASA1, NF1, HRAS
20h2o2459.4SDHB, PTPN11, CREB1, KRAS, HRAS
21alanine459.4SDHB, PTPN11, RET, RASA1, NF1
22paraffin459.4RET, PDGFRA, NF2, NF1, KRAS, HRAS
23dopamine45 30 26 1312.3SDHB, RET, CREB1, NF1
24threonine459.3PTPN11, RET, CREB1, NF2, HRAS
25gdp459.3RASA1, RASA2, NF1, HRAS
26oxygen45 2610.2SDHB, SDHD, PTPN11, VHL, KRAS, HRAS
27cysteine459.2SDHB, PTPN11, RET, CREB1, NF2, NF1
28ly294002459.2PTPN11, RET, VHL, CREB1, KRAS, HRAS
29guanine45 26 1311.2HRAS, RASA2, RASA1, CREB1
30estrogen459.1VHL, PDGFRA, CREB1, NF1, KRAS, HRAS
31retinoic acid45 2610.1RET, PDGFRA, CREB1, NF1, KRAS, HRAS
32atp45 3010.1SDHB, PTPN11, RET, PDGFRA, CREB1, NF1
33arachidonic acid45 30 26 1312.1HRAS, NF1, RASA2, RASA1
34phenylalanine459.0PTPN11, RET, RASA1, RASA2, HRAS
35gtp45 3010.0RASA1, RASA2, NF1, KRAS, HRAS
36rapamycin458.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
37phosphotyrosine458.8PTPN11, RET, PDGFRA, RASA1, RASA2, HRAS
38oligonucleotide458.7PTPN11, RET, VHL, PDGFRA, CREB1, NF1
39vegf458.7SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
40serine458.5PTPN11, RET, VHL, CREB1, RASA1, NF2
41lipid457.8SDHB, PTPN11, APOBEC1, RET, CREB1, RASA2
42calcium45 51 26 1310.8SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
43phosphatidylinositol457.7HRAS, PTPN11, RET, VHL, PDGFRA, CREB1
44tyrosine457.3PDGFRA, 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:000574910.0SDHD, SDHB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.1NF1, RASA2, RASA1
3cytoplasmGO:00057376.8SPRED1, 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:004340910.3NF1, NF2
2negative regulation of cell-matrix adhesionGO:000195310.2RASA1, NF2, NF1
3positive regulation of hormone secretionGO:004688710.2CREB1, PTPN11
4positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:0200124110.2NF1, RET
5positive regulation of Rac protein signal transductionGO:003502210.2KRAS, HRAS
6striated muscle cell differentiationGO:005114610.1KRAS, HRAS
7regulation of synaptic transmission, GABAergicGO:003222810.1HRAS, KRAS, NF1
8adrenal gland developmentGO:003032510.0PDGFRA, NF1
9regulation of long-term neuronal synaptic plasticityGO:004816910.0NF1, KRAS, HRAS
10visual learningGO:000854210.0HRAS, KRAS, NF1
11Ras protein signal transductionGO:000726510.0HRAS, KRAS, NF1
12leukocyte migrationGO:00509009.9PTPN11, KRAS, HRAS
13actin cytoskeleton organizationGO:00300369.8NF2, NF1, KRAS, HRAS
14phosphatidylinositol-mediated signalingGO:00480159.8PTPN11, PDGFRA, CREB1
15positive regulation of cell migrationGO:00303359.8HRAS, PDGFRA, RET
16negative regulation of neuron apoptotic processGO:00435249.8RASA1, KRAS, HRAS
17MAPK cascadeGO:00001659.7HRAS, KRAS, NF1, RET
18insulin receptor signaling pathwayGO:00082869.7HRAS, KRAS, PTPN11
19axon guidanceGO:00074119.6HRAS, KRAS, CREB1, PTPN11
20positive regulation of Ras GTPase activityGO:00323209.6NF1, RASA2, RASA1
21negative regulation of Ras protein signal transductionGO:00465809.6RASA1, RASA2, NF1
22regulation of axonogenesisGO:00507709.5OMG, RET
23fibroblast growth factor receptor signaling pathwayGO:00085439.5PTPN11, PDGFRA, CREB1, KRAS, HRAS
24Fc-epsilon receptor signaling pathwayGO:00380959.4PTPN11, PDGFRA, CREB1, KRAS, HRAS
25epidermal growth factor receptor signaling pathwayGO:00071739.4HRAS, KRAS, CREB1, PDGFRA, PTPN11
26innate immune responseGO:00450879.2HRAS, KRAS, CREB1, PDGFRA, RNF135, PTPN11
27positive regulation of transcription, DNA-templatedGO:00458939.1CREB1, CRLF3, VHL, RET
28neurotrophin TRK receptor signaling pathwayGO:00480119.1HRAS, OMG, PTPN11, PDGFRA, CREB1, KRAS
29signal transductionGO:00071658.4HRAS, RASA2, RASA1, CREB1, RET

Molecular functions related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:004803910.0SDHD, SDHB
2Ras GTPase activator activityGO:00050998.9NF1, RASA2, RASA1
3protein bindingGO:00055156.7HRAS, SPRED1, SDHB, PTPN11, APOBEC1, RNF135

Products for genes affiliated with Neurofibromatosis

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  • Antibodies
  • Proteins
  • Lysates
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  • Proteins
  • Kits and Assays

Sources for Neurofibromatosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet