MCID: PLX002
MIFTS: 43

Plexiform Neurofibroma malady

Neuronal category

Summaries for Plexiform Neurofibroma

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 neurofibromatosis and ganglioneuroma. 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, liver and tongue, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Plexiform Neurofibroma

Sources:
8Disease Ontology, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt
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Classifications:

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


Aliases & Descriptions:

plexiform neurofibroma 8 61
neurofibroma plexiform 45


External Ids:

Disease Ontology8 DOID:5151
MeSH35 D018318
SNOMED-CT57 403818001, 41252002
NCIt40 C3797

Related Diseases for Plexiform Neurofibroma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Plexiform Neurofibroma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.5NF2, NF1
2ganglioneuroma30.6S100B
3neurofibrosarcoma30.2NF2, NF1
4adenocarcinoma30.2GAPDH, GHR, NF2, GLI1
5plexiform schwannoma10.4
6atypical neurofibroma10.3
7bladder disease10.3
8esophagus leiomyoma10.2
9obstructive jaundice10.2
10cellular schwannoma10.2
11submandibular gland disease10.2
12carpal tunnel syndrome10.2
13cellular neurofibroma10.2
14exophthalmos10.2
15meningocele10.2
16muscular atrophy10.2
17n syndrome10.2
18amblyopia10.2
19angiosarcoma10.2
20tongue disease10.2
21giant congenital nevus10.2
22chromosome 9p deletion10.2
23meningoencephalocele10.2
24gigantism10.2
25sacrococcygeal teratoma10.2
26dysphagia10.2
27ptosis, congenital10.2
28teratoma10.2
29large congenital melanocytic nevus10.2
30hemifacial hypertrophy10.2
31small bowel adenocarcinoma10.2
32malignant peripheral nerve sheath tumor10.0NF1
33herpes simplex10.0NF2
34perineurioma10.0S100B
35panhypopituitarism10.0GHR
36neuroma10.0ANK3
37peritonitis10.0B2M
38myocardial infarction10.0NF2
39aids dementia complex10.0B2M
40nervous system cancer10.0NF1, NF2
41acoustic neuroma10.0NF1, NF2
42fibrous meningioma10.0NF2, S100B
43hemangiopericytoma10.0S100B
44neurilemmoma10.0NF1, NF2
45anaplastic ependymoma10.0S100B, NF2
46tuberous sclerosis10.0NF1, S100B
47hepatocellular carcinoma10.0GAPDH
48hyperparathyroidism10.0NF1
49papilloma10.0GAPDH
50skin benign neoplasm10.0NF1, GLI1

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



Diseases related to plexiform neurofibroma

Clinical Features for Plexiform Neurofibroma

Drugs & Therapeutics for Plexiform Neurofibroma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Plexiform Neurofibroma

Drug clinical trials:

Search ClinicalTrials for Plexiform Neurofibroma

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Search CenterWatch for Plexiform Neurofibroma

Genetic Tests for Plexiform Neurofibroma

Anatomical Context for Plexiform Neurofibroma

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33MalaCards
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MalaCards organs/tissues related to Plexiform Neurofibroma:

33
Skin, Liver, Tongue, Spinal cord, Bone marrow, Small intestine, Colon, Salivary gland, Cervix, B cells, Dorsal root ganglion, Trigeminal ganglion

Animal Models for Plexiform Neurofibroma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Plexiform Neurofibroma:

37
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

Sources:
51PubMed
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Articles related to Plexiform Neurofibroma:

(show top 50)    (show all 263)
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
Analysis of orbital plain radiographs for orbital deformities in neurofibromatosis type 1 patients, with special reference to alterations of the orbital rim as indicators of adjacent plexiform neurofibroma. (23482785)
2013
4
Plexiform neurofibroma affecting the upper parietal scalp, with cerebellar hamartoma: role of histopathology, colour Doppler imaging and magnetic resonance imaging. (23517359)
2013
5
Expression profiling of 519 kinase genes in matched malignant peripheral nerve sheath tumor/plexiform neurofibroma samples is discriminatory and identifies mitotic regulators BUB1B, PBK and NEK2 as overexpressed with transformation. (23370767)
2013
6
Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas. (22961690)
2013
7
Solitary plexiform neurofibroma of the gingiva: unique presentation in the oral cavity. (24179954)
2013
8
18-fluorodeoxyglucose-positron emission tomography (FDG-PET) evaluation of nodular lesions in patients with Neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST). (22645095)
2013
9
Carpal tunnel syndrome due to a plexiform neurofibroma of the median nerve in a neurofibromatosis type 1 patient: clinical approach. (23853185)
2013
10
Awake airtraq intubation in plexiform neurofibroma of face: A new experience. (23716788)
2013
11
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
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
Secretome Survey of Human Plexiform Neurofibroma Derived Schwann Cells Reveals a Secreted form of the RARRES1 Protein. (22942771)
2012
15
Airway evaluation for magnetic resonance imaging sedation in pediatric patients with plexiform neurofibroma. (23327039)
2012
16
Giant congenital nevus with plexiform neurofibroma and malignant peripheral nerve sheath tumor. (22413842)
2012
17
Pre-pubertal isolated plexiform neurofibroma of labium majus without clitoral involvement. (22524161)
2012
18
Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1. (22836801)
2012
19
Single-stage total endoscopic resection of a plexiform neurofibroma of the maxillary sinus in a child with type 1 neurofibromatosis. (20074816)
2010
20
A case of isolated plexiform neurofibroma in a patient with myasthenia gravis. (20548857)
2009
21
Localized, plexiform, diffuse, and other variants of neurofibroma in 12 dogs, 2 horses, and a chicken. (19429995)
2009
22
Severe exophthalmos in trigeminal plexiform neurofibroma involving the orbit and the infratemporal fossa. (19364654)
2009
23
Giant plexiform neurofibroma in a patient with neurofibromatosis type I. (19624985)
2009
24
Unusual localization of a plexiform neurofibroma in a child with neurofibromatosis 1. (18954424)
2008
25
Management of advanced laryngeal and hypopharyngeal plexiform neurofibroma in adults. (18598841)
2008
26
Giant plexiform neurofibroma and suboccipital meningocele manifesting as segmental neurofibromatosis. (18574335)
2008
27
Cutaneous plexiform schwannoma of the finger not associated with neurofibromatosis. (18284268)
2008
28
Pathology quiz case 1. Plexiform neurofibroma. (17372092)
2007
29
Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case report. (17456965)
2007
30
Solitary plexiform neurofibroma(s): role of magnetic resonance imaging. (17366683)
2007
31
Plexiform neurofibroma of the cauda equina: case report. (15680670)
2005
32
Plexiform neurofibroma of the cheek mucosa. A case report. (15122129)
2004
33
Best cases from the AFIP: plexiform neurofibroma of the bladder. (15486243)
2004
34
Plexiform neurofibroma of the larynx in a child. (11860654)
2002
35
Massive plexiform neurofibroma of the sympathetic trunk. (10609911)
1999
36
Isolated plexiform neurofibroma of tongue and oropharynx: a rare manifestation of von Recklinghausen's disease. (9572457)
1998
37
Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: a clinicopathologic and immunohistochemical analysis of 54 cases. (9688181)
1998
38
Solitary plexiform neurofibroma is not pathognomonic of von Recklinghausen's neurofibromatosis: a report of a case. (9248889)
1997
39
Plexiform leiomyoma of the esophagus: a peculiar gross variant simulating plexiform neurofibroma. (8808436)
1996
40
Airway obstruction in children due to plexiform neurofibroma of the larynx. (8944884)
1996
41
Pelvic plexiform neurofibroma--an obstetric dilemma. (7904957)
1993
42
Abdominal plexiform neurofibromatosis simulating pseudomyxoma peritonei on computed tomography. (2501362)
1989
43
Solitary plexiform neurofibroma. (2529151)
1989
44
Penile plexiform neurofibroma: case report and review of the literature. (3131547)
1988
45
Hemorrhage into a plexiform neurofibroma induced by trauma: a rare complication of von Recklinghausen's disease. (3121707)
1987
46
Macrodactyly of the foot associated with plexiform neurofibroma of the medial plantar nerve. (3734079)
1986
47
An isolated plexiform neurofibroma of the bladder. (3928903)
1985
48
Angiosarcoma arising in a plexiform neurofibroma: a case report. (7190462)
1980
49
Plexiform neurofibroma of the head and neck. (484781)
1979
50
MESENTERIC PLEXIFORM NEUROFIBROMA: A PRIMARY PRESENTING MANIFESTATION OF VON RECKLINGHAUSEN'S DISEASE. (14149685)
1964

Genetic Variations for Plexiform Neurofibroma

Expression for genes affiliated with Plexiform Neurofibroma

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

Search GEO for disease gene expression data for Plexiform Neurofibroma.

Pathways for genes affiliated with Plexiform Neurofibroma

Sources:
54Reactome
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Pathways related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Plexiform Neurofibroma

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Plexiform Neurofibroma according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1creatinine4510.3GHR
2glucose459.9GLI1, GAPDH
3N-Formylmethionine119.7B2M, S100B
4vitamin a45 11 2411.5GAPDH, GHR, NF1
5actb459.5GLI1, B2M, GAPDH
6nh4cl459.4B2M, GAPDH
7hypoxanthine45 11 2411.4B2M, GAPDH
8succinate459.4NF1, B2M, GAPDH
9dopamine45 29 11 2412.4NF1, GHR, GAPDH
10sodium nitroprusside459.3S100B, GAPDH, B2M
11mannitol45 1110.3S100B, GAPDH, B2M
12fluoride459.3NF1, B2M
13formaldehyde45 2410.3B2M, GAPDH, S100B
14rapamycin459.1GAPDH, NF2, NF1
15progesterone45 60 29 11 2413.1S100B, GHR, NF2, NF1
16glutamine458.9S100B, GAPDH, B2M, GHR
17steroid458.8S100B, B2M, GHR, NF1
18aspartate458.8S100B, GAPDH, B2M, GHR
19testosterone45 60 11 2411.8S100B, GAPDH, B2M, GHR
20paraffin458.7S100B, B2M, GHR, NF2, NF1
21alanine458.6S100B, GAPDH, B2M, GHR, NF1
22estrogen458.6S100B, GAPDH, B2M, GHR, NF1
23retinoic acid45 249.6NF1, GHR, B2M, GAPDH, S100B
24cysteine458.2S100B, GAPDH, B2M, GHR, NF2, NF1
25serine457.6S100B, GAPDH, B2M, GHR, ANK3, NF2

GO Terms for genes affiliated with Plexiform Neurofibroma

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet