MCID: NRF002
MIFTS: 69

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

Aliases & Classifications for Neurofibromatosis

About this section

Neurofibromatosis, Aliases & Descriptions:

Name: Neurofibromatosis 9 63 41 42 11 43 32
Von Recklinghausen Disease 63 19 41 21
Neurofibromatosis Type 1 9 41 21 43
Neurofibromatosis 1 9 19 21 60
Bilateral Acoustic Neurofibromatosis 63 19 41
Peripheral Neurofibromatosis 9 63 21
Neurofibromatosis Type Ii 63 19 41
Neurofibromatosis 2 19 20 60
Nf1 19 41 21
Recklinghausen Disease, Nerve 63 21
Neurofibromatosis Type Iv 9 22
Central Neurofibromatosis 9 19
Familial Acoustic Neuroma 63 60
Neurofibromatosis Type 4 9 41
Type 1 Neurofibromatosis 41 20
Neurofibromatosis Type 2 9 41
Nf2 19 41
Von Recklinghausen's Neurofibromatosis 19
 
Neurofibromatosis, Type 4, of Riccardi 60
Type Iv Neurofibromatosis of Riccardi 9
Neurofibromatosis Type 4 of Riccardi 41
Recklinghausen's Neurofibromatosis 9
Schwannoma, Acoustic, Bilateral 63
Neurofibromatosis Central Type 41
Acoustic Schwannomas Bilateral 41
Von Recklinghausen's Disease 42
Acoustic Neurinoma Bilateral 41
Neurofibromatosis, Atypical 41
Multiple Neurofibromatosis 63
Acoustic Neurofibromatosis 9
Von Reklinghausen Disease 9
Recklinghausen's Disease 41
Neurofibromatosis Type I 63
Neurofibromatoses 60
Banf 63


Classifications:



External Ids:

Disease Ontology9 DOID:8712
ICD9CM27 237.71
NCIt38 C3273
ICD1025 Q85.0

Summaries for Neurofibromatosis

About this section


MedlinePlus:32 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 neurofibroma and neurofibromatosis, type 2, 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:41 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:42 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.

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.

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

GeneReviews summary for nf1

GeneReviews summary for nf2

Related Diseases for Neurofibromatosis

About this section

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 Suite gene sharing:

(show top 50)    (show all 476)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibroma31.8PDGFRA, NF2, NF1
2neurofibromatosis, type 231.7SDHB, SDHD, NF2, NF1
3plexiform neurofibroma31.6PDGFRA, NF1
4malignant peripheral nerve sheath tumor31.6PDGFRA, NF2, NF1
5neurofibromatosis-noonan syndrome31.5PTPN11, NF1
6neurofibrosarcoma31.4NF1, NF2
7legius syndrome31.3SPRED1
8gastrointestinal stromal tumor31.1SDHB, PDGFRA, NF2, NF1
9piebaldism31.0PDGFRA
10learning disability30.9NF1
11neuroma30.8RET
12ependymoma30.8NF1, NF2, PDGFRA
13leopard syndrome30.7HRAS, PTPN11
14cherubism30.7PTPN11
15noonan syndrome 130.7PTPN11
16glomus tumor30.7SDHB, SDHD, VHL
17phaeochromocytoma30.6RET, SDHD, SDHB
18astrocytoma30.6VHL, PDGFRA, NF2, NF1, HRAS
19neurilemmoma30.6NF2, NF1
20acoustic neuroma30.5VHL, NF2, NF1
21hyperparathyroidism30.4SDHB, SDHD, RET, NF1
22leukemia, juvenile myelomonocytic30.4PTPN11, NF1
23chronic myelomonocytic leukemia30.3NF1, PDGFRA, PTPN11
24pheochromocytoma30.3SDHB, SDHD, RET, VHL, CREB1, NF1
25neuroendocrine tumor30.2SDHD, RET, PDGFRA, NF1
26sarcoma30.2PDGFRA, NF2, NF1, KRAS, HRAS
27paraganglioma30.2SDHB, RET
28leiomyomatosis30.1VHL, SDHB
29myeloid leukemia30.1PTPN11, CREB1, NF1, HRAS
30carney triad30.1SDHB, SDHD, PDGFRA
31malignant glioma30.1NF1, NF2, PDGFRA
32leukemia30.0PTPN11, PDGFRA, CREB1, RASA2, NF1, KRAS
33multiple endocrine neoplasia30.0SDHB, SDHD, RET, VHL, NF2, NF1
34colorectal cancer30.0CREB1, NF1, KRAS, HRAS
35adenocarcinoma29.9VHL, CREB1, NF2, KRAS, HRAS
36developmental disabilities29.9PTPN11, RET, HRAS
37glioblastoma29.9PTPN11, VHL, PDGFRA, CREB1, NF1, HRAS
38costello syndrome29.9PTPN11, KRAS, HRAS
39acute leukemia29.8PTPN11, CREB1, NF1, KRAS, HRAS
40cystadenoma29.8KRAS, VHL
41myelodysplastic syndrome29.7PTPN11, PDGFRA, NF1, KRAS
42breast cancer29.7SDHB, PTPN11, VHL, RASA1, NF2, NF1
43hemangioma29.6SDHB, SDHD, RET, VHL, NF1
44mental retardation29.5PTPN11, VHL, CREB1, NF1, HRAS
45melanoma29.5PTPN11, PDGFRA, CREB1, NF2, NF1, KRAS
46adenoma29.4RET, VHL, CREB1, KRAS, HRAS
47prostate cancer29.4KRAS, NF2, RASA2, CREB1, PDGFRA, PTPN11
48hepatocellular carcinoma29.2APOBEC1, PDGFRA, CREB1, KRAS, HRAS
49lung cancer29.2HRAS, KRAS, PDGFRA, VHL
50neurofibromatosis, type 111.2

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Symptoms for Neurofibromatosis

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Neurofibromatosis

Search NIH Clinical Center for Neurofibromatosis

Genetic Tests for Neurofibromatosis

About this section

Genetic tests related to Neurofibromatosis:

id Genetic test Affiliating Genes
1 Neurofibromatosis 120 NF1
2 Neurofibromatosis 220 NF2
3 Neurofibromatosis Type 422

Anatomical Context for Neurofibromatosis

About this section

MalaCards organs/tissues related to Neurofibromatosis:

31
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

About this section

MGI Mouse Phenotypes related to Neurofibromatosis:

35 (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

About this section

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

About this section

Clinvar genetic disease variations for Neurofibromatosis:

6 (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

About this section
Search GEO for disease gene expression data for Neurofibromatosis.

Pathways for genes affiliated with Neurofibromatosis

About this section

Pathways related to Neurofibromatosis according to GeneCards Suite gene sharing:

(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 cascades58
9.8RASA1, NF1, HRAS
39.8RASA1, NF1, HRAS
49.8HRAS, RASA1, PTPN11
5
Show member pathways
Insulin Pathway36
9.8HRAS, RASA1, PTPN11
6
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
9.8PTPN11, RASA1, HRAS
7
Show member pathways
IL-2 Signaling pathway36
9.8PTPN11, RASA1, HRAS
89.7PDGFRA, CREB1, NF1
9
Show member pathways
Development Flt3 signaling58
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)36
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 events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.5PTPN11, PDGFRA, RASA1, HRAS
22
Show member pathways
VEGFR1 specific signals36
9.5PTPN11, VHL, RASA1, HRAS
239.4RET, VHL, CREB1, NF2
249.4PTPN11, VHL, KRAS, HRAS
25
Show member pathways
Development ERBB family signaling58
Development GDNF family signaling58
9.3RET, CREB1, RASA1, HRAS
26
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.3HRAS, KRAS, CREB1, PTPN11
27
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.3HRAS, KRAS, CREB1, PTPN11
28
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
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 pathway58
9.2NF1, RASA2, RASA1
33
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
9.2PTPN11, PDGFRA, NF2, KRAS, HRAS
349.1HRAS, RASA1, CREB1, RET, PTPN11
35
Show member pathways
Signaling Pathways in Glioblastoma36
9.1PDGFRA, CREB1, NF1, KRAS, HRAS
36
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.1HRAS, KRAS, RASA1, CREB1, PTPN11
379.1PTPN11, CREB1, RASA1, KRAS, HRAS
38
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
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 PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
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 pathway36
8.4PDGFRA, RASA1, RASA2, NF1, KRAS, HRAS
50
Show member pathways
8.2PTPN11, PDGFRA, RASA1, RASA2, NF1, KRAS

Compounds for genes affiliated with Neurofibromatosis

About this section

Compounds related to Neurofibromatosis according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1Fumaric acid2410.3SDHB, SDHD
23-nitropropionic acid4310.2SDHB, CREB1
3fumarate43 1211.1SDHB, SDHD, VHL
4guanosine43 24 1212.1HRAS, NF1, RASA1
5mibg4310.0SDHD, SDHB
6sunitinib43 49 1212.0PDGFRA, VHL, RET
7regorafenib49 1210.9RET, PDGFRA, KRAS
8catecholamine439.9RET, SDHD, SDHB
9methionine439.8HRAS, NF1, RET, PTPN11
10herbimycin a43 5910.7PTPN11, RET, CREB1, HRAS
11imatinib43 49 1211.7KRAS, PDGFRA, RET, PTPN11
12succinate439.7SDHB, SDHD, RET, VHL, NF1
13glycogen43 2410.6SDHB, PTPN11, VHL, CREB1
14ponatinib49 1210.6PDGFRA, RET
15agar439.6NF2, CREB1, RET, PTPN11, HRAS
16phosphoinositide439.5HRAS, KRAS, CREB1, PTPN11
17aspartate439.4HRAS, PDGFRA, RET, SDHB
18wortmannin439.4HRAS, KRAS, CREB1, RET, PTPN11
19arginine439.4SDHB, PTPN11, RET, RASA1, NF1, HRAS
20h2o2439.4SDHB, PTPN11, CREB1, KRAS, HRAS
21alanine439.4SDHB, PTPN11, RET, RASA1, NF1
22paraffin439.4RET, PDGFRA, NF2, NF1, KRAS, HRAS
23dopamine43 28 24 1212.3SDHB, RET, CREB1, NF1
24threonine439.3PTPN11, RET, CREB1, NF2, HRAS
25gdp439.3RASA1, RASA2, NF1, HRAS
26oxygen43 2410.2SDHB, SDHD, PTPN11, VHL, KRAS, HRAS
27cysteine439.2SDHB, PTPN11, RET, CREB1, NF2, NF1
28ly294002439.2PTPN11, RET, VHL, CREB1, KRAS, HRAS
29guanine43 24 1211.2HRAS, RASA2, RASA1, CREB1
30estrogen439.1VHL, PDGFRA, CREB1, NF1, KRAS, HRAS
31retinoic acid43 2410.1RET, PDGFRA, CREB1, NF1, KRAS, HRAS
32atp43 2810.1SDHB, PTPN11, RET, PDGFRA, CREB1, NF1
33arachidonic acid43 28 24 1212.1HRAS, NF1, RASA2, RASA1
34phenylalanine439.0PTPN11, RET, RASA1, RASA2, HRAS
35gtp43 2810.0RASA1, RASA2, NF1, KRAS, HRAS
36rapamycin438.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
37phosphotyrosine438.8PTPN11, RET, PDGFRA, RASA1, RASA2, HRAS
38oligonucleotide438.7PTPN11, RET, VHL, PDGFRA, CREB1, NF1
39vegf438.7SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
40serine438.5PTPN11, RET, VHL, CREB1, RASA1, NF2
41lipid437.8SDHB, PTPN11, APOBEC1, RET, CREB1, RASA2
42calcium43 49 24 1210.8SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
43phosphatidylinositol437.7HRAS, PTPN11, RET, VHL, PDGFRA, CREB1
44tyrosine437.3PDGFRA, VHL, RET, PTPN11, SDHB, CREB1

GO Terms for genes affiliated with Neurofibromatosis

About this section

Cellular components related to Neurofibromatosis according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neurofibromatosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet