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, Testes, Dorsal root ganglion, Cervix, Colon, Eye, Spinal cord, Trigeminal ganglion

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, GLI1, NF2
2MP:00020069.4NF2, NF1
3MP:00053798.7B2M, GHR, NF1, NF2
4MP:00053708.4GHR, NF2, NF1, GAPDH, B2M
5MP:00053868.0S100B, GHR, ANK3, NF2, NF1, GLI1
6MP:00053787.9GAPDH, B2M, GHR, NF2, NF1, GLI1
7MP:00036317.7GLI1, NF1, NF2, ANK3, GHR, B2M
8MP:00107687.4GAPDH, B2M, GHR, ANK3, NF2, GLI1

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
Radiosurgical treatment of ulnar plexiform neurofibroma in a neurofibromatosis type 1 (NF1) patient. (23307331)
2013
2
Awake airtraq intubation in plexiform neurofibroma of face: A new experience. (23716788)
2013
3
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
4
The plexiform neurofibroma microenvironment. (22821631)
2012
5
Total resection of giant plexiform neurofibroma of the entire back in one stage by autologous tumor skin graft. (21862429)
2012
6
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
7
Plexiform neurofibroma of the submandibular salivary gland: a rare tumour. (22654338)
2011
8
Surgical treatment of giant plexiform neurofibroma associated with pectus excavatum. (21951471)
2011
9
Peripheral nerve involvement in a neurofibromatosis type 2 patient with plexiform neurofibroma of the cauda equina: a sonographic vignette. (21878222)
2011
10
Response of NF1-related plexiform neurofibroma to high-dose carboplatin. (21225936)
2011
11
Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. (21551250)
2011
12
Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial region as depicted on CT and MRI. (20452890)
2010
13
Plexiform neurofibroma: an unusual cause of GI bleeding and intestinal obstruction. (19386302)
2009
14
Germline and somatic NF1 gene mutations in plexiform neurofibromas. (18484666)
2008
15
Cerclage technique for repairing large circular defects of the trunk: two-staged excision of a plexiform neurofibroma. (18384614)
2008
16
Plexiform neurofibroma of the finger. (18722169)
2008
17
Plexiform neurofibroma of the cauda equina: a case report and review of the literature. (18203792)
2008
18
The role of [18F]-fluorodeoxyglucose positron emission tomography in predicting plexiform neurofibroma progression. (18071635)
2008
19
Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: report of a pediatric example and literature review. (18656232)
2008
20
Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steeling. (17961147)
2008
21
A case of isolated giant plexiform neurofibroma involving all branches of the common peroneal nerve. (17377797)
2007
22
Intraorbital plexiform neurofibroma in an NF-1-negative patient. (17536094)
2007
23
Oral plexiform neurofibroma not associated with neurofibromatosis type I: case report. (17023749)
2006
24
Expression of CyclinD1, p27kp-1, and bcl-2 in plexiform neurofibroma with and without malignant transformation in neurofibromatosis type 1. (17718269)
2006
25
Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas. (16481142)
2006
26
Plexiform neurofibroma mimicking a pancreatic cystic tumour. (16227365)
2005
27
Plexiform neurofibroma of the uterine cervix: a case report and review of the literature. (15913429)
2005
28
Large recurrent plexiform neurofibroma of the foot and ankle. (14748029)
2004
29
Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1. (12525736)
2003
30
Intraparotid facial nerve solitary plexiform neurofibroma: a first paediatric case report. (14550966)
2003
31
Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. (12898075)
2003
32
Plexiform neurofibroma of the submandibular salivary gland in a child. (11773950)
2001
33
Giant plexiform neurofibroma of the back. (11037170)
2000
34
CO2-laser in the removal of a plexiform neurofibroma from the eyelid. (11011715)
2000
35
Plexiform neurofibroma with massive hand involvement. (11100040)
2000
36
Plexiform neurofibroma of the small bowel infiltrated with metastatic adenocarcinoma. (10560344)
1999
37
Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. (10459349)
1999
38
Principles in management of complex pediatric genitourinary plexiform neurofibroma. (9187704)
1997
39
Solitary plexiform neurofibroma is not pathognomonic of von Recklinghausen's neurofibromatosis: a report of a case. (9248889)
1997
40
Orbital plexiform neurofibroma. (8025053)
1993
41
Plexiform neurofibroma of the pelvis: CT and MRI findings. (1908933)
1991
42
Large vascular plexiform neurofibroma of scalp: excision and coverage with free tissue transfer. (2301889)
1990
43
Malignant transformation in a plexiform neurofibroma of the median nerve. (6430991)
1984
44
Plexiform neurofibroma in von Recklinghausen's disease: a case report. (6790599)
1980
45
Solitary plexiform neurofibroma at an unusual site. Report of a case in the lumbar region. (4635582)
1972
46
Congenital venous malformation of the scalp associated with plexiform neurofibroma and cranial defect. Case report. (5349093)
1969
47
Plexiform neurofibroma associated with cutaneous pigmentation and bone manifestations. (13751021)
1961
48
Experiences with the management of plexiform neurofibroma. (14422787)
1959
49
Plexiform neurofibroma of orbit and lid with defects in walls of orbit and involvement of central nervous system. (13196769)
1954
50
A Case of Plexiform Neurofibroma Involving the Orbit. (16692262)
1912

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