MCID: RTC007
MIFTS: 20

Reticular Perineurioma malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

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Aliases & Descriptions for Reticular Perineurioma:

Name: Reticular Perineurioma 54

Classifications:



External Ids:

Orphanet54 ORPHA100000

Summaries for Reticular Perineurioma

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MalaCards based summary: Reticular Perineurioma is related to marfanoid hypermobility syndrome and sebaceous adenoma. An important gene associated with Reticular Perineurioma is MUC1 (Mucin 1, Cell Surface Associated), and among its related pathways are Tyrosine Kinases / Adaptors and Cardiac Progenitor Differentiation.

Related Diseases for Reticular Perineurioma

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Diseases related to Reticular Perineurioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1marfanoid hypermobility syndrome10.1KIT, MUC1
2sebaceous adenoma10.1KIT, MUC1
3mesenchymoma10.1KIT, MUC1
4ganglioneuroma10.1KIT, PDGFRA
5dfnb110.1KIT, PDGFRA
6uremic neuropathy10.1KIT, PDGFRA
7kahrizi syndrome10.1KIT, PDGFRA
8amaurosis congenita, cone-rod type, with congenital hypertrichosis10.1KIT, PDGFRA
9olfactory nerve disease10.1KIT, PDGFRA
10larynx leiomyosarcoma10.1KIT, PDGFRA
11rectum leiomyoma10.1KIT, PDGFRA
12pustulosis palmaris et plantaris10.1KIT, PDGFRA
13cerebral arterial disease10.1KIT, PDGFRA
14fragile x-associated tremor/ataxia syndrome10.1KIT, PDGFRA
15kidney clear cell sarcoma10.1KIT, PDGFRA
16hyperandrogenism due to cortisone reductase deficiency10.1KIT, PDGFRA
17subependymal glioma10.1MUC1, PDGFRA
18fibrosarcoma10.1KIT, PDGFRA
19small intestinal sarcoma10.1KIT, PDGFRA
20may-thurner syndrome10.1KIT, PDGFRA
21human granulocytic anaplasmosis10.1KIT, MUC1
22dentinogenesis imperfecta, shields type ii10.1KIT, PDGFRA
23multifocal osteogenic sarcoma10.1KIT, PDGFRA
24temporomandibular ankylosis10.0KIT, PDGFRA
25benign ependymoma10.0MUC1, PDGFRA
26combined thymoma10.0KIT, MUC1
27lucey-driscoll syndrome10.0MUC1, S100B
28secondary pulmonary hemosiderosis10.0MUC1, S100B
29myelinoclastic diffuse sclerosis10.0MUC1, S100B
30myoma10.0MUC1, S100B
31pemphigus vegetans10.0MUC1, S100B
32spleen angiosarcoma10.0MUC1, S100B
33ovarian cystadenoma10.0MUC1, S100B
34trombiculiasis10.0MUC1, S100B
35biliary papillomatosis10.0MUC1, S100B
36postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma10.0MUC1, S100B
37microinvasive cervical squamous cell carcinoma10.0MUC1, S100B
38corneal intraepithelial neoplasm10.0MUC1, S100B
39subglottis verrucous carcinoma10.0MUC1, S100B
40porokeratosis10.0MUC1, S100B
41conjunctival cancer10.0MUC1, S100B
42oral leukoedema10.0KIT, PDGFRA
43clear cell ependymoma10.0MUC1, S100B
44behcet's syndrome arthropathy10.0MUC1, S100B
45monkeypox10.0KIT, S100B
46sternum cancer10.0MUC1, S100B
47endocardium cancer10.0MUC1, S100B
48aneurysm of sinus of valsalva10.0MUC1, S100B
49amyloidosis, hereditary, transthyretin-related10.0KIT, MUC1
50vulvar squamous papilloma10.0MUC1, S100B

Graphical network of the top 20 diseases related to Reticular Perineurioma:



Diseases related to reticular perineurioma

Symptoms & Phenotypes for Reticular Perineurioma

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Drugs & Therapeutics for Reticular Perineurioma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Reticular Perineurioma

Genetic Tests for Reticular Perineurioma

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Anatomical Context for Reticular Perineurioma

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Publications for Reticular Perineurioma

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Articles related to Reticular Perineurioma:

idTitleAuthorsYear
1
Reticular Perineurioma of the Hand: Diagnosis and Treatment of a Rare Case of Hand Mass. (27955966)
2016
2
Challenging differential diagnosis of a wild-type gastrointestinal stromal tumour (GIST) or rare reticular perineurioma of the stomach? The role for mutational analysis. (21725412)
2011
3
Intraneural reticular perineurioma of the hypoglossal nerve. (18972430)
2009
4
Intraneural reticular perineurioma of the neck. (12715338)
2003
5
Reticular perineurioma: a distinctive variant of soft tissue perineurioma. (11257623)
2001

Variations for Reticular Perineurioma

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Expression for genes affiliated with Reticular Perineurioma

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Search GEO for disease gene expression data for Reticular Perineurioma.

Pathways for genes affiliated with Reticular Perineurioma

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GO Terms for genes affiliated with Reticular Perineurioma

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Biological processes related to Reticular Perineurioma according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell chemotaxisGO:006032610.0KIT, PDGFRA
2phosphatidylinositol phosphorylationGO:004685410.0KIT, PDGFRA
3phosphatidylinositol-mediated signalingGO:004801510.0KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.0KIT, PDGFRA
5positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.0KIT, PDGFRA
6positive regulation of phospholipase C activityGO:001086310.0KIT, PDGFRA
7regulation of phosphatidylinositol 3-kinase signalingGO:00140669.9KIT, PDGFRA
8regulation of cell shapeGO:00083609.7KIT, S100B
9transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.3KIT, PDGFRA
10positive regulation of cell proliferationGO:00082849.2KIT, PDGFRA, S100B

Molecular functions related to Reticular Perineurioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0KIT, PDGFRA
2Ras guanyl-nucleotide exchange factor activityGO:00050889.8KIT, PDGFRA
3transmembrane receptor protein tyrosine kinase activityGO:00047149.3KIT, PDGFRA
4protein homodimerization activityGO:00428039.1KIT, PDGFRA, S100B

Sources for Reticular Perineurioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet