MCID: RTC007
MIFTS: 20

Reticular Perineurioma malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

Aliases & Descriptions for Reticular Perineurioma:

Name: Reticular Perineurioma 56

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA100000

Summaries for Reticular Perineurioma

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/superpathways are Tyrosine Kinases / Adaptors and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers.

Related Diseases for Reticular Perineurioma

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

(show top 50) (show all 90)
id Related Disease Score Top Affiliating Genes
1 marfanoid hypermobility syndrome 10.1 KIT MUC1
2 sebaceous adenoma 10.1 KIT MUC1
3 mesenchymoma 10.1 KIT MUC1
4 ganglioneuroma 10.1 KIT PDGFRA
5 dfnb1 10.1 KIT PDGFRA
6 uremic neuropathy 10.1 KIT PDGFRA
7 kahrizi syndrome 10.1 KIT PDGFRA
8 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.1 KIT PDGFRA
9 olfactory nerve disease 10.1 KIT PDGFRA
10 larynx leiomyosarcoma 10.1 KIT PDGFRA
11 rectum leiomyoma 10.1 KIT PDGFRA
12 pustulosis palmaris et plantaris 10.1 KIT PDGFRA
13 cerebral arterial disease 10.1 KIT PDGFRA
14 fragile x-associated tremor/ataxia syndrome 10.1 KIT PDGFRA
15 kidney clear cell sarcoma 10.1 KIT PDGFRA
16 hyperandrogenism due to cortisone reductase deficiency 10.1 KIT PDGFRA
17 subependymal glioma 10.1 MUC1 PDGFRA
18 fibrosarcoma 10.1 KIT PDGFRA
19 small intestinal sarcoma 10.1 KIT PDGFRA
20 may-thurner syndrome 10.1 KIT PDGFRA
21 human granulocytic anaplasmosis 10.1 KIT MUC1
22 dentinogenesis imperfecta, shields type ii 10.1 KIT PDGFRA
23 multifocal osteogenic sarcoma 10.1 KIT PDGFRA
24 temporomandibular ankylosis 10.0 KIT PDGFRA
25 benign ependymoma 10.0 MUC1 PDGFRA
26 combined thymoma 10.0 KIT MUC1
27 lucey-driscoll syndrome 10.0 MUC1 S100B
28 secondary pulmonary hemosiderosis 10.0 MUC1 S100B
29 myelinoclastic diffuse sclerosis 10.0 MUC1 S100B
30 myoma 10.0 MUC1 S100B
31 pemphigus vegetans 10.0 MUC1 S100B
32 spleen angiosarcoma 10.0 MUC1 S100B
33 ovarian cystadenoma 10.0 MUC1 S100B
34 trombiculiasis 10.0 MUC1 S100B
35 biliary papillomatosis 10.0 MUC1 S100B
36 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.0 MUC1 S100B
37 microinvasive cervical squamous cell carcinoma 10.0 MUC1 S100B
38 corneal intraepithelial neoplasm 10.0 MUC1 S100B
39 subglottis verrucous carcinoma 10.0 MUC1 S100B
40 porokeratosis 10.0 MUC1 S100B
41 conjunctival cancer 10.0 MUC1 S100B
42 oral leukoedema 10.0 KIT PDGFRA
43 clear cell ependymoma 10.0 MUC1 S100B
44 behcet's syndrome arthropathy 10.0 MUC1 S100B
45 monkeypox 10.0 KIT S100B
46 sternum cancer 10.0 MUC1 S100B
47 endocardium cancer 10.0 MUC1 S100B
48 aneurysm of sinus of valsalva 10.0 MUC1 S100B
49 amyloidosis, hereditary, transthyretin-related 10.0 KIT MUC1
50 vulvar squamous papilloma 10.0 MUC1 S100B

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



Diseases related to Reticular Perineurioma

Symptoms & Phenotypes for Reticular Perineurioma

Drugs & Therapeutics for Reticular Perineurioma

Search Clinical Trials , NIH Clinical Center for Reticular Perineurioma

Genetic Tests for Reticular Perineurioma

Anatomical Context for Reticular Perineurioma

Publications for Reticular Perineurioma

Articles related to Reticular Perineurioma:

id Title Authors Year
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

Expression for Reticular Perineurioma

Search GEO for disease gene expression data for Reticular Perineurioma.

Pathways for Reticular Perineurioma

GO Terms for Reticular Perineurioma

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

id Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.48 KIT S100B
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 KIT PDGFRA
3 phosphatidylinositol-mediated signaling GO:0048015 9.43 KIT PDGFRA
4 phosphatidylinositol phosphorylation GO:0046854 9.4 KIT PDGFRA
5 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.37 KIT PDGFRA
6 positive regulation of cell proliferation GO:0008284 9.33 KIT PDGFRA S100B
7 cell chemotaxis GO:0060326 9.32 KIT PDGFRA
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.26 KIT PDGFRA
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.96 KIT PDGFRA
10 positive regulation of phospholipase C activity GO:0010863 8.62 KIT PDGFRA

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.33 KIT PDGFRA S100B
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 KIT PDGFRA
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 KIT PDGFRA
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 KIT PDGFRA

Sources for Reticular Perineurioma

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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32 HPO
33 ICD10
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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