MCID: RTC007
MIFTS: 20

Reticular Perineurioma

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

MalaCards integrated aliases 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 mannose-binding lectin protein deficiency and diffuse meningeal melanocytosis. 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 89)
id Related Disease Score Top Affiliating Genes
1 mannose-binding lectin protein deficiency 10.3 KIT MUC1
2 diffuse meningeal melanocytosis 10.3 KIT MUC1
3 sebaceous adenoma 10.3 KIT MUC1
4 mesenchymoma 10.2 KIT MUC1
5 perineurioma 10.2
6 movement disease 10.2 KIT PDGFRA
7 retroperitoneal leiomyosarcoma 10.2 KIT PDGFRA
8 wilms tumor 6 10.2 KIT PDGFRA
9 desmoplastic small round cell tumor 10.2 KIT PDGFRA
10 mercaptolactate-cysteine disulfiduria 10.2 KIT PDGFRA
11 brain stem infarction 10.2 KIT PDGFRA
12 thymus small cell carcinoma 10.2 KIT PDGFRA
13 punctate palmoplantar keratoderma type 2 10.2 KIT PDGFRA
14 breast adenoid cystic carcinoma 10.2 KIT PDGFRA
15 lung leiomyosarcoma 10.2 KIT PDGFRA
16 alopecia antibody deficiency 10.1 KIT PDGFRA
17 chikungunya 10.1 KIT MUC1
18 fibrosarcoma of bone 10.1 KIT PDGFRA
19 extrinsic cardiomyopathy 10.1 KIT MUC1
20 extraosseous osteosarcoma 10.1 KIT PDGFRA
21 mixed type thymoma 10.1 KIT MUC1
22 periventricular nodular heterotopia 3 10.1 KIT PDGFRA
23 sebaceous adenocarcinoma 10.1 MUC1 PDGFRA
24 temporal lobe epilepsy 10.1 KIT PDGFRA
25 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.1 KIT PDGFRA
26 spermatogenic failure 13 10.1 KIT MUC1
27 benign mammary dysplasia 10.0 KIT PDGFRA
28 brachyolmia 10.0 KIT PDGFRA
29 ovarian large-cell neuroendocrine carcinoma 10.0 KIT PDGFRA
30 logopenic progressive aphasia 10.0 MUC1 S100B
31 heiner syndrome 10.0 MUC1 S100B
32 meningitis and encephalitis 10.0 MUC1 S100B
33 simple cryoglobulinemia 10.0 MUC1 S100B
34 spleen angiosarcoma 10.0 MUC1 S100B
35 myoma 10.0 MUC1 S100B
36 mucinous ovarian cystadenoma 10.0 MUC1 S100B
37 enteric pattern testicular yolk sac tumor 10.0 MUC1 S100B
38 invasive malignant thymoma 10.0 KIT S100B
39 noninvasive malignant thymoma 10.0 MUC1 S100B
40 reticular pattern testicular yolk sac tumor 10.0 MUC1 S100B
41 brown-vialetto-van laere syndrome 10.0 KIT MUC1
42 pancreatic intraductal papillary-colloid carcinoma 10.0 MUC1 S100B
43 lice infestation 10.0 MUC1 S100B
44 pleural empyema 10.0 MUC1 S100B
45 ganglioglioma 10.0 MUC1 S100B
46 anaplastic oligodendroglioma 10.0 MUC1 S100B
47 vulvar squamous papilloma 10.0 MUC1 S100B
48 spindle cell liposarcoma 10.0 MUC1 S100B
49 malignant breast melanoma 10.0 KIT S100B
50 coronary restenosis 9.9 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 9.43 KIT PDGFRA S100B
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.16 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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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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48 NDF-RT
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52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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