MCID: RTC007
MIFTS: 21

Reticular Perineurioma

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

MalaCards integrated aliases for Reticular Perineurioma:

Name: Reticular Perineurioma 55

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA100000

Summaries for Reticular Perineurioma

MalaCards based summary : Reticular Perineurioma is related to perineurioma and malignant mixed mullerian tumor. 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 91)
# Related Disease Score Top Affiliating Genes
1 perineurioma 29.8 KIT MUC1 S100B
2 malignant mixed mullerian tumor 10.2 KIT MUC1
3 perivascular epithelioid cell tumor 10.1 KIT MUC1
4 dermoid cyst 10.1 KIT MUC1
5 sm-ahnmd 10.1 KIT PDGFRA
6 gastric leiomyosarcoma 10.1 KIT PDGFRA
7 desmoid tumor 10.1 KIT PDGFRA
8 carney triad 10.1 KIT PDGFRA
9 hypereosinophilic syndrome, idiopathic 10.1 KIT PDGFRA
10 conventional fibrosarcoma 10.1 KIT PDGFRA
11 endometrial small cell carcinoma 10.1 KIT PDGFRA
12 pulmonary vein stenosis 10.1 KIT PDGFRA
13 lung adenoid cystic carcinoma 10.1 KIT PDGFRA
14 undifferentiated pleomorphic sarcoma 10.1 KIT PDGFRA
15 heart sarcoma 10.1 KIT PDGFRA
16 chronic eosinophilic leukemia 10.1 KIT PDGFRA
17 mesenchymal cell neoplasm 10.1 KIT PDGFRA
18 angiosarcoma 10.1 KIT MUC1
19 neurofibromatosis, type i 10.1 KIT PDGFRA
20 oncocytoma 10.0 KIT MUC1
21 fibrosarcoma of bone 10.0 KIT PDGFRA
22 merkel cell carcinoma 10.0 KIT MUC1
23 piebald trait 10.0 KIT PDGFRA
24 adenosquamous carcinoma 10.0 MUC1 PDGFRA
25 systemic mastocytosis 10.0 KIT PDGFRA
26 thymus cancer 10.0 KIT MUC1
27 mast cell disease 10.0 KIT PDGFRA
28 leukocyte disease 10.0 KIT PDGFRA
29 sarcoma, synovial 10.0 KIT MUC1
30 small cell carcinoma 10.0 KIT PDGFRA
31 localized hypertrophic neuropathy 10.0 MUC1 S100B
32 sclerosing perineurioma 10.0 MUC1 S100B
33 intracranial cysts 10.0 MUC1 S100B
34 non-functioning pituitary adenoma 10.0 MUC1 S100B
35 epithelioid malignant peripheral nerve sheath tumor 10.0 MUC1 S100B
36 ossifying fibromyxoid tumor 10.0 MUC1 S100B
37 mixed type thymoma 10.0 KIT S100B
38 fibrous meningioma 10.0 MUC1 S100B
39 chordoid meningioma 10.0 MUC1 S100B
40 myxofibrosarcoma 9.9 MUC1 S100B
41 syringocystadenoma papilliferum 9.9 MUC1 S100B
42 eccrine porocarcinoma 9.9 MUC1 S100B
43 cell type cancer 9.9 KIT MUC1
44 chordoid glioma 9.9 MUC1 S100B
45 myxopapillary ependymoma 9.9 MUC1 S100B
46 monophasic synovial sarcoma 9.9 MUC1 S100B
47 syringoma 9.9 MUC1 S100B
48 anaplastic ependymoma 9.9 MUC1 S100B
49 pleomorphic liposarcoma 9.9 MUC1 S100B
50 amelanotic melanoma 9.9 KIT 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.46 KIT PDGFRA
2 regulation of cell shape GO:0008360 9.43 KIT S100B
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.4 KIT PDGFRA
4 phosphatidylinositol phosphorylation GO:0046854 9.37 KIT PDGFRA
5 positive regulation of cell proliferation GO:0008284 9.33 KIT PDGFRA S100B
6 cell chemotaxis GO:0060326 9.32 KIT PDGFRA
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.26 KIT PDGFRA
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.96 KIT PDGFRA
9 positive regulation of phospholipase C activity GO:0010863 8.62 KIT PDGFRA

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

# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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