MCID: PLX002
MIFTS: 46

Plexiform Neurofibroma malady

Neuronal diseases category

Summaries for Plexiform Neurofibroma

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63Wikipedia, 32MalaCards
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Wikipedia:63 A solitary neurofibroma (also known as a \"Solitary nerve sheath tumor,\" and \"Sporadic neurofibroma\")... more...

MalaCards: 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 is Prolactin receptor signaling. The compounds creatinine and glucose have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and salivary gland, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Plexiform Neurofibroma

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8Disease Ontology, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt
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Classifications:

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


Aliases & Descriptions:

plexiform neurofibroma 8 60
neurofibroma plexiform 44


External Ids:

Disease Ontology8 DOID:5151
MeSH34 D018318
SNOMED-CT56 403818001, 41252002
NCIt39 C3797

Related Diseases for Plexiform Neurofibroma

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Plexiform Neurofibroma:



Diseases related to plexiform neurofibroma

Clinical Features for Plexiform Neurofibroma

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Drugs & Therapeutics for Plexiform Neurofibroma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Plexiform Neurofibroma

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Anatomical Context for Plexiform Neurofibroma

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32MalaCards
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MalaCards organs/tissues related to Plexiform Neurofibroma:

32
Skin, Bone, Salivary gland, Tongue, Liver, Colon, Spinal cord, Testes, Cervix, Dorsal root ganglion, Trigeminal ganglion, Eye

Animal Models for Plexiform Neurofibroma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Plexiform Neurofibroma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4GHR, NF2, GLI1
2MP:00020069.4NF1, NF2
3MP:00053798.7B2M, GHR, NF2, NF1
4MP:00053708.4NF1, NF2, GHR, B2M, GAPDH
5MP:00053868.0S100B, GHR, ANK3, NF2, NF1, GLI1
6MP:00053787.9B2M, GHR, NF2, NF1, GLI1, GAPDH
7MP:00036317.7B2M, GHR, ANK3, NF2, NF1, GLI1
8MP:00107687.4GAPDH, B2M, GHR, ANK3, NF2, NF1

Publications for Plexiform Neurofibroma

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50PubMed
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Articles related to Plexiform Neurofibroma:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: an uncommon cause of severe urological disease in an infant. (23380157)
2013
2
Laryngeal plexiform neurofibroma in a child. (23780601)
2013
3
Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (22585738)
2012
4
Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. (23099009)
2012
5
Secretome Survey of Human Plexiform Neurofibroma Derived Schwann Cells Reveals a Secreted form of the RARRES1 Protein. (22942771)
2012
6
Neurofibromatosis type 1 presenting with plexiform neurofibromas in two patients: MRI features. (23049566)
2012
7
Secondary Vascular Alterations in Diffuse and Plexiform Neurofibroma: An Impressive yet Little Known Morphologic Change. (22344173)
2012
8
Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. (22077553)
2012
9
Marrow signal changes observed in follow-up whole-body MRI studies in children and young adults with neurofibromatosis type 1 treated with imatinib mesylate (Gleevec) for plexiform neurofibromas. (22722872)
2012
10
Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I. (21977094)
2011
11
Pathology quiz case 3. Diagnosis: plexiform neurofibroma of the larynx. (21690523)
2011
12
Surgical management of a giant plexiform neurofibroma of the lower extremity. (21704948)
2011
13
Solitary plexiform neurofibroma, a pitfall in diagnosis of lipoma. (22778282)
2010
14
Diffuse plexiform neurofibroma. (23133302)
2010
15
Diffuse plexiform neurofibroma of the back: report of a case. (20845284)
2010
16
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
17
Localized, plexiform, diffuse, and other variants of neurofibroma in 12 dogs, 2 horses, and a chicken. (19429995)
2009
18
Rectal invasive plexiform neurofibroma in neurofibromatosis type I. (19670576)
2009
19
Intra-parotid facial nerve multiple plexiform neurofibroma in patient with NF1. (18329107)
2008
20
Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease. (17560189)
2007
21
Pathology quiz case 1. Plexiform neurofibroma. (17372092)
2007
22
Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus. (17280739)
2007
23
NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. (17215493)
2007
24
Plexiform neurofibroma in type 1 neurofibromatosis. (16908458)
2006
25
Plexiform neurofibroma of the tongue: a case report of a child. (16848118)
2006
26
Plexiform neurofibroma of the cheek mucosa. A case report. (15122129)
2004
27
Best cases from the AFIP: plexiform neurofibroma of the bladder. (15486243)
2004
28
Diffuse plexiform neurofibroma in a 13-year-old girl. (14996396)
2003
29
Massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical mass. (12890468)
2003
30
Malignant schwannoma of the sciatic nerve originating in a spinal plexiform neurofibroma associated with neurofibromatosis type 1--case report. (11758709)
2001
31
Plexiform neurofibroma of the liver: findings on mr imaging, angiography, and CT portography. (11159102)
2001
32
Diffuse, retroperitoneal mesenteric and intrahepatic periportal plexiform neurofibroma in a 5-year-old boy. (11512005)
2001
33
Plexiform neurofibroma of the submandibular gland. (11027061)
2000
34
Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: a clinicopathologic and immunohistochemical analysis of 54 cases. (9688181)
1998
35
Case report 828: Plexiform neurofibroma of the tibial nerve invading the medial and lateral gastrocnemius muscles and plantaris muscle. (8191302)
1994
36
Plexiform neurofibroma of the cervical portion of the vagus nerve. (1527466)
1992
37
Unilateral congenital ptosis due to plexiform neurofibroma, causing refraction error and secondary amblyopia. (1818234)
1991
38
Plexiform neurofibroma: report of an unusual presentation. (2183914)
1990
39
Pulsating orbital plexiform neurofibroma and optic nerve glioma. (2791937)
1989
40
Hemangiopericytoma arising in a solitary plexiform neurofibroma: report of a case and review of the literature. (3057149)
1988
41
Management of plexiform neurofibroma of the larynx. (3101570)
1987
42
Macrodactyly of the foot associated with plexiform neurofibroma of the medial plantar nerve. (3734079)
1986
43
Ultrasonography of a plexiform neurofibroma of the popliteal fossa. (6820385)
1982
44
Congenital plexiform neurofibroma of the scalp. (7117322)
1982
45
Angiosarcoma arising in a plexiform neurofibroma: a case report. (7190462)
1980
46
"Congenital" plexiform neurofibroma of the occipital scalp. Case report. (833642)
1977
47
Local gigantism of the hand associated with a plexiform neurofibroma of the ulnar nerve. Report of a case. (4468287)
1974
48
Congenital plexiform neurofibroma of the vagus with cardiac, pulmonary and visceral involvement. (5069404)
1972
49
Massive plexiform neurofibroma of the occipital scalp. Case report. (5947051)
1966
50
Case history of plexiform neurofibroma. (13377166)
1956

Genetic Variations for Plexiform Neurofibroma

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Expression for genes affiliated with Plexiform Neurofibroma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Plexiform Neurofibroma

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Pathways for genes affiliated with Plexiform Neurofibroma

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53Reactome
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Pathways related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.6GHR, S100B

Compounds for genes affiliated with Plexiform Neurofibroma

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1creatinine4410.3GHR
2glucose449.9GLI1, GAPDH
3N-Formylmethionine119.7B2M, S100B
4vitamin a44 11 2411.5GAPDH, GHR, NF1
5actb449.5GLI1, B2M, GAPDH
6nh4cl449.4B2M, GAPDH
7hypoxanthine44 11 2411.4B2M, GAPDH
8succinate449.4NF1, B2M, GAPDH
9dopamine44 28 11 2412.4NF1, GHR, GAPDH
10sodium nitroprusside449.3S100B, GAPDH, B2M
11mannitol44 1110.3S100B, GAPDH, B2M
12fluoride449.3NF1, B2M
13formaldehyde44 2410.3B2M, GAPDH, S100B
14rapamycin449.1GAPDH, NF2, NF1
15progesterone44 59 28 11 2413.1S100B, GHR, NF2, NF1
16glutamine448.9S100B, GAPDH, B2M, GHR
17steroid448.8S100B, B2M, GHR, NF1
18aspartate448.8S100B, GAPDH, B2M, GHR
19testosterone44 59 11 2411.8S100B, GAPDH, B2M, GHR
20paraffin448.7S100B, B2M, GHR, NF2, NF1
21alanine448.6S100B, GAPDH, B2M, GHR, NF1
22estrogen448.6S100B, GAPDH, B2M, GHR, NF1
23retinoic acid44 249.6NF1, GHR, B2M, GAPDH, S100B
24cysteine448.2S100B, GAPDH, B2M, GHR, NF2, NF1
25serine447.6S100B, GAPDH, B2M, GHR, ANK3, NF2

GO Terms for genes affiliated with Plexiform Neurofibroma

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16Gene Ontology
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Cellular components related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extrinsic to membraneGO:0198989.6NF2, GHR

Biological processes related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of MAPK cascadeGO:0434099.7NF1, NF2
2negative regulation of cell-matrix adhesionGO:0019539.4NF1, NF2

Molecular functions related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:0080929.4NF2, ANK3
2protein bindingGO:0055156.6GLI1, S100B, GAPDH, B2M, GHR, ANK3

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet