MCID: RTC007
MIFTS: 24

Reticular Perineurioma

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

MalaCards integrated aliases for Reticular Perineurioma:

Name: Reticular Perineurioma 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA100000

Summaries for Reticular Perineurioma

MalaCards based summary : Reticular Perineurioma is related to perineurioma and extraneural perineurioma. 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. Affiliated tissues include bone, lung and heart.

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 30.3 KIT MUC1 S100B
2 extraneural perineurioma 10.1
3 sm-ahnmd 10.0 KIT PDGFRA
4 gastric leiomyosarcoma 10.0 KIT PDGFRA
5 conventional fibrosarcoma 10.0 KIT PDGFRA
6 endometrial small cell carcinoma 10.0 KIT PDGFRA
7 small cell carcinoma 10.0 KIT PDGFRA
8 desmoid tumor 10.0 KIT PDGFRA
9 hypereosinophilic syndrome, idiopathic 10.0 KIT PDGFRA
10 hypereosinophilic syndrome 10.0 KIT PDGFRA
11 lung adenoid cystic carcinoma 10.0 KIT PDGFRA
12 pulmonary vein stenosis 10.0 KIT PDGFRA
13 sarcomatoid renal cell carcinoma 10.0 KIT MUC1
14 perivascular epithelioid cell tumor 10.0 KIT MUC1
15 carney triad 10.0 KIT PDGFRA
16 heart sarcoma 10.0 KIT PDGFRA
17 chronic eosinophilic leukemia 10.0 KIT PDGFRA
18 mesenchymal cell neoplasm 10.0 KIT PDGFRA
19 dermoid cyst 10.0 KIT MUC1
20 undifferentiated pleomorphic sarcoma 10.0 KIT PDGFRA
21 gastric cardia carcinoma 10.0 KIT MUC1
22 neurofibromatosis, type i 10.0 KIT PDGFRA
23 fibrosarcoma of bone 10.0 KIT PDGFRA
24 dysgerminoma 10.0 KIT MUC1
25 piebald trait 10.0 KIT PDGFRA
26 adenosquamous carcinoma 10.0 KIT MUC1
27 systemic mastocytosis 10.0 KIT PDGFRA
28 mastocytosis 10.0 KIT PDGFRA
29 angiosarcoma 10.0 KIT MUC1
30 localized hypertrophic neuropathy 10.0 MUC1 S100B
31 sclerosing perineurioma 10.0 MUC1 S100B
32 intracranial cysts 10.0 MUC1 S100B
33 non-functioning pituitary adenoma 10.0 MUC1 S100B
34 functioning pituitary adenoma 10.0 MUC1 S100B
35 oncocytoma 10.0 KIT MUC1
36 syringocystadenoma papilliferum 10.0 MUC1 S100B
37 epithelioid malignant peripheral nerve sheath tumor 10.0 MUC1 S100B
38 ossifying fibromyxoid tumor 10.0 MUC1 S100B
39 fibrous meningioma 10.0 MUC1 S100B
40 chordoid meningioma 10.0 MUC1 S100B
41 eccrine porocarcinoma 10.0 MUC1 S100B
42 neurofibromatosis, type iv, of riccardi 10.0 KIT PDGFRA
43 spindle cell rhabdomyosarcoma 10.0 MUC1 S100B
44 myxopapillary ependymoma 10.0 MUC1 S100B
45 merkel cell carcinoma 10.0 KIT MUC1
46 ependymoma 10.0 MUC1 S100B
47 monophasic synovial sarcoma 10.0 MUC1 S100B
48 chordoid glioma 10.0 MUC1 S100B
49 carcinosarcoma 10.0 KIT MUC1
50 syringoma 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

MalaCards organs/tissues related to Reticular Perineurioma:

41
Bone, Lung, Heart, Pituitary, Thymus, Bone Marrow

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 regulation of cell shape GO:0008360 9.48 KIT S100B
2 positive regulation of MAPK cascade GO:0043410 9.46 KIT PDGFRA
3 negative regulation of signal transduction GO:0009968 9.43 KIT PDGFRA
4 phosphatidylinositol phosphorylation GO:0046854 9.4 KIT PDGFRA
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 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:

# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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