MCID: PLX002
MIFTS: 41

Plexiform Neurofibroma malady

Neuronal diseases category

Aliases & Classifications for Plexiform Neurofibroma

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Sources:
9Disease Ontology, 60UMLS, 43Novoseek, 38NCIt, 33MeSH, 55SNOMED-CT
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Plexiform Neurofibroma, Aliases & Descriptions:

Name: Plexiform Neurofibroma 9 60
 
Neurofibroma Plexiform 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:5151
NCIt38 C3797
SNOMED-CT55 403818001, 41252002
MeSH33 D018318

Summaries for Plexiform Neurofibroma

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MalaCards based summary: Plexiform Neurofibroma, also known as neurofibroma plexiform, is related to neurofibroma and neurofibromatosis. An important gene associated with Plexiform Neurofibroma is GLI1 (GLI family zinc finger 1), and among its related pathways are Nuclear signaling by ERBB4 and Cell cycle Role of APC in cell cycle regulation. The compounds fluoride and nh4cl have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, bone and tongue, and related mouse phenotypes are endocrine/exocrine gland and tumorigenesis.

Related Diseases for Plexiform Neurofibroma

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Diseases related to Plexiform Neurofibroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibroma32.5NF2, S100B, NF1
2neurofibromatosis32.1NF1, NF2
3malignant peripheral nerve sheath tumor31.6NF1
4neuroma30.9ANK3
5neurofibrosarcoma30.8NF2, NF1
6neurofibromatosis, type 230.8NF1, NF2
7adenocarcinoma30.0GLI1, NF2, GHR, GAPDH
8melanoma29.8S100B, GHR, NF1, GLI1, GAPDH, NF2
9neurofibromatosis, type 110.9
10perineurioma10.4S100B
11nervous system cancer10.4NF1, NF2
12neurilemmoma10.4NF1, NF2
13acoustic neuroma10.4NF1, NF2
14fibrous meningioma10.3S100B, NF2
15anaplastic ependymoma10.3NF2, S100B
16hepatitis10.3
17choroiditis10.3
18ganglioneuroma10.3
19cervicitis10.3
20laryngitis10.3
21multiple endocrine neoplasia10.3NF1, NF2
22pilocytic astrocytoma10.3S100B, NF1
23skin benign neoplasm10.3GLI1, NF1
24noonan syndrome 110.3GHR, NF1
25sarcoma, synovial10.2NF1, S100B
26ependymoma10.2NF2, S100B, NF1
27gastrointestinal stromal tumor10.2NF1, NF2, S100B
28paraganglioma10.2S100B, NF1
29brain cancer10.2NF2, NF1, GLI1
30lipoma10.2
31myasthenia gravis10.2
32sacrococcygeal teratoma10.2
33meningocele10.2
34exophthalmos10.2
35muscular atrophy10.2
36obstructive jaundice10.2
37cellular schwannoma10.2
38buphthalmos10.2
39oculocutaneous albinism10.2
40amblyopia10.2
41angiosarcoma10.2
42hemangiopericytoma10.2
43intestinal obstruction10.2
44leiomyoma10.2
45mediastinitis10.2
46myopia10.2
47optic nerve glioma10.2
48pancreatitis10.2
49ptosis10.2
50refractive error10.2

Graphical network of the top 20 diseases related to Plexiform Neurofibroma:



Diseases related to plexiform neurofibroma

Symptoms for Plexiform Neurofibroma

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Drugs & Therapeutics for Plexiform Neurofibroma

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Drug clinical trials:

Search ClinicalTrials for Plexiform Neurofibroma

Search NIH Clinical Center for Plexiform Neurofibroma

Genetic Tests for Plexiform Neurofibroma

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Anatomical Context for Plexiform Neurofibroma

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MalaCards organs/tissues related to Plexiform Neurofibroma:

31
Salivary gland, Bone, Tongue, Skin, Liver, Eye, Colon, Uterus, Testes, Cervix, Dorsal root ganglion, Trigeminal ganglion

Animal Models for Plexiform Neurofibroma or affiliated genes

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MGI Mouse Phenotypes related to Plexiform Neurofibroma:

35 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8B2M, GHR, NF2, NF1, GLI1
2MP:00020068.8B2M, BUB1B, NF2, NF1, GLI1
3MP:00053808.5BUB1B, GHR, NF2, NF1, GLI1
4MP:00053898.4GLI1, NF2, GHR, BUB1B, B2M
5MP:00053708.4B2M, GHR, NF2, NF1, GAPDH
6MP:00053678.2ANK3, GHR, NF2, NF1, GLI1, GAPDH
7MP:00036318.1B2M, ANK3, GHR, NF2, NF1, GLI1
8MP:00053868.0BUB1B, ANK3, GHR, S100B, NF2, NF1
9MP:00107717.8NF1, B2M, BUB1B, PBK, GHR, S100B
10MP:00053877.8B2M, BUB1B, PBK, GHR, NF2, NF1
11MP:00053787.4B2M, BUB1B, GHR, NF2, NF1, GLI1
12MP:00107687.1B2M, BUB1B, ANK3, GHR, NF2, NF1

Publications for Plexiform Neurofibroma

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Articles related to Plexiform Neurofibroma:

(show top 50)    (show all 267)
idTitleAuthorsYear
1
Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report. (25738048)
2015
2
Preclinical assessment of the anticancer drug response of plexiform neurofibroma tissue using primary cultures. (25851896)
2015
3
Solitary plexiform neurofibroma of the stomach: a case report. (24803834)
2014
4
Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. (25186217)
2014
5
Solitary parotid plexiform neurofibroma - diagnostic difficulty in a clinically unsuspected case. (25494144)
2014
6
Co-occurrence of choroidal pigmented ganglioneuroma and plexiform neurofibroma in a patient with neurofibromatosis 1. (24656164)
2014
7
Re: 'Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: An uncommon cause of severe urological disease in an infant' J Pediatr Urol 2013 Feb 4 [Epub ahead of print]. (23973761)
2013
8
Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I. (24321536)
2013
9
Synchronous plexiform neurofibroma in the arytenoids and neurofibroma in the parapharynx in a patient with non-neurofibromatosis: a case report. (23305487)
2013
10
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
11
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
12
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)
2012
13
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
14
False-negative fluorine-18 fluorodeoxyglucose positron emission tomography of a malignant peripheral nerve sheath tumor arising from a plexiform neurofibroma in the setting of neurofibromatosis type 1. (21838076)
2011
15
Plexiform neurofibroma of the submandibular salivary gland: a rare tumour. (22654338)
2011
16
Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I. (21977094)
2011
17
Experiences of families with a child, adolescent, or young adult with neurofibromatosis type 1 and plexiform neurofibroma evaluated for clinical trials participation at the National Cancer Institute. (20951236)
2011
18
Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)
2010
19
Giant plexiform neurofibroma in neurofibromatosis type 1. (20212235)
2010
20
Plexiform neurofibroma: a rare tumor of submandibular salivary gland. (22091342)
2010
21
Diffuse plexiform neurofibroma. (23133302)
2010
22
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
23
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
2008
24
Cerclage technique for repairing large circular defects of the trunk: two-staged excision of a plexiform neurofibroma. (18384614)
2008
25
Unusual localization of a plexiform neurofibroma in a child with neurofibromatosis 1. (18954424)
2008
26
Plexiform neurofibroma of the finger. (18722169)
2008
27
Plexiform neurofibroma of the cauda equina: a case report and review of the literature. (18203792)
2008
28
Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease. (17560189)
2007
29
Pathology quiz case 1. Plexiform neurofibroma. (17372092)
2007
30
Hemimacroglossia caused by isolated plexiform neurofibroma: a case report. (16481830)
2006
31
Oral plexiform neurofibroma not associated with neurofibromatosis type I: case report. (17023749)
2006
32
Expression of CyclinD1, p27kp-1, and bcl-2 in plexiform neurofibroma with and without malignant transformation in neurofibromatosis type 1. (17718269)
2006
33
Plexiform neurofibroma mimicking a pancreatic cystic tumour. (16227365)
2005
34
Plexiform neurofibroma of the oesophagus: a mimicker of malignancy. (16352584)
2005
35
Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain. (15519868)
2004
36
Isolated plexiform neurofibroma: treatment with three-dimensional conformal radiotherapy. (15235336)
2004
37
Plexiform neurofibroma during and after pregnancy. (12410373)
2002
38
Plexiform neurofibroma of the penis in a child. (11018635)
2000
39
Enlarged penis due to a plexiform neurofibroma. (10524930)
1999
40
Intrahepatic plexiform neurofibroma in neurofibromatosis 1. (9732509)
1998
41
Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. (9403645)
1997
42
Pelvic plexiform neurofibroma--an obstetric dilemma. (7904957)
1993
43
Large vascular plexiform neurofibroma of scalp: excision and coverage with free tissue transfer. (2301889)
1990
44
Pulsating orbital plexiform neurofibroma and optic nerve glioma. (2791937)
1989
45
Plexiform neurofibroma in children. (3743485)
1986
46
Plexiform (multinodular) schwannoma. A tumor simulating the plexiform neurofibroma. (6638259)
1983
47
Ultrasonography of a plexiform neurofibroma of the popliteal fossa. (6820385)
1982
48
Angiosarcoma arising in a plexiform neurofibroma: a case report. (7190462)
1980
49
Plexiform neurofibroma infiltrating the facial nerve. (420602)
1979
50
Plexiform neurofibroma of the lumbar region. Case report. (5766619)
1969

Variations for Plexiform Neurofibroma

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Expression for genes affiliated with Plexiform Neurofibroma

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Search GEO for disease gene expression data for Plexiform Neurofibroma.

Pathways for genes affiliated with Plexiform Neurofibroma

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Pathways related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7S100B, GHR
29.3NEK2, BUB1B

Compounds for genes affiliated with Plexiform Neurofibroma

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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 12DrugBank
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Compounds related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1fluoride439.8B2M, NF1
2nh4cl439.4B2M, GAPDH
3deoxyribonucleic acid439.4GAPDH, NF2
4actb439.3GAPDH, GLI1, B2M
5progesterone43 28 59 24 1213.3GHR, S100B, NF2, NF1
6succinate439.3B2M, NF1, GAPDH
7hypoxanthine43 24 1211.2GAPDH, B2M
8sodium nitroprusside439.2GAPDH, S100B, B2M
9mannitol43 1210.2GAPDH, S100B, B2M
10rapamycin439.2GAPDH, NF1, NF2
11citric acid43 28 24 1212.1GAPDH, B2M
12steroid439.1NF1, S100B, GHR, B2M
13formaldehyde43 2410.1GAPDH, S100B, B2M
14paraffin439.0B2M, GHR, S100B, NF2, NF1
15vitamin a43 24 1210.8GAPDH, NF1, GHR, B2M
16dopamine43 28 24 1211.8GHR, S100B, NF1, GAPDH
17glutamine438.8B2M, GHR, S100B, GAPDH
18creatinine438.7GAPDH, S100B, GHR, B2M
19aspartate438.7B2M, GHR, S100B, GAPDH
20testosterone43 59 24 1211.6B2M, GHR, S100B, GAPDH
21alanine438.5GAPDH, NF1, S100B, GHR, B2M
22estrogen438.5B2M, GHR, S100B, NF1, GAPDH
23glucose438.5B2M, GHR, S100B, GLI1, GAPDH
24retinoic acid43 249.5B2M, GHR, S100B, NF1, GAPDH
25atp43 289.3GHR, S100B, NF1, GAPDH
26cysteine438.2B2M, GHR, S100B, NF2, NF1, GAPDH
27serine437.3GAPDH, B2M, NEK2, ANK3, GHR, S100B

GO Terms for genes affiliated with Plexiform Neurofibroma

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Cellular components related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extrinsic component of membraneGO:00198989.6NF2, GHR
2kinetochoreGO:00007769.3NEK2, BUB1B
3perinuclear region of cytoplasmGO:00484718.4BUB1B, S100B, NF2, GAPDH
4nucleusGO:00056347.2NEK2, GHR, S100B, NF2, NF1, GLI1
5cytoplasmGO:00057377.0GAPDH, B2M, BUB1B, NEK2, S100B, NF2

Biological processes related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:000195310.0NF1, NF2
2negative regulation of MAPK cascadeGO:00434099.9NF1, NF2
3negative regulation of protein kinase activityGO:00064699.9NF1, NF2
4osteoblast differentiationGO:00016499.6GLI1, NF1
5mitosisGO:00070678.7BUB1B, NEK2, PBK

Molecular functions related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046748.8PBK, NEK2, BUB1B
2protein bindingGO:00055155.3GAPDH, B2M, BUB1B, NEK2, ANK3, PBK

Products for genes affiliated with Plexiform Neurofibroma

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Sources for Plexiform Neurofibroma

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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