MCID: RTC007
MIFTS: 31

Reticular Perineurioma malady

Neuronal diseases, Cancer diseases, Rare diseases categories
Download this MalaCard

Summaries for Reticular Perineurioma

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Reticular Perineurioma is related to perineurioma and myelofibrosis. An important gene associated with Reticular Perineurioma is MUC1 (mucin 1, cell surface associated), and among its related pathways are Ras signaling pathway and Actin Nucleation by ARP-WASP Complex. The compounds trastuzumab and hematoxylin have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and tumorigenesis.

Aliases & Classifications for Reticular Perineurioma

About this section
Sources:
49Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

reticular perineurioma 49


Related Diseases for Reticular Perineurioma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1perineurioma30.9MUC1
2myelofibrosis10.1PDGFRA
3dermatofibrosarcoma protuberans10.0KIT, MUC1
4thymus cancer10.0KIT, MUC1
5merkel cell carcinoma10.0KIT, MUC1
6malignant mixed mullerian tumor10.0KIT, MUC1
7adenoid cystic carcinoma10.0KIT, MUC1
8neuroendocrine carcinoma10.0MUC1, KIT
9oxyphilic adenoma10.0MUC1, KIT
10synovial sarcoma10.0KIT, MUC1
11mesenchymal cell neoplasm10.0KIT, PDGFRA
12carney triad10.0PDGFRA, KIT
13desmoid tumor10.0PDGFRA, KIT
14piebaldism10.0KIT, PDGFRA
15systemic mastocytosis10.0PDGFRA, KIT
16endometrial stromal sarcoma10.0KIT, PDGFRA
17hypereosinophilic syndrome10.0KIT, PDGFRA
18chronic myelomonocytic leukemia10.0PDGFRA, KIT
19mastocytosis10.0KIT, PDGFRA
20malignant peripheral nerve sheath tumor10.0PDGFRA, KIT
21polycythemia vera10.0PDGFRA, KIT
22neurofibromatosis10.0KIT, PDGFRA
23chordoma10.0PDGFRA, MUC1
24angiosarcoma10.0PDGFRA, MUC1
25gastrointestinal stromal tumor10.0PDGFRA, KIT
26ependymoma10.0PDGFRA, MUC1
27seminoma10.0KIT, PDGFRA
28leiomyoma10.0PDGFRA, KIT
29myeloproliferative disorder10.0PDGFRA, KIT
30peripheral primitive neuroectodermal tumor10.0KIT, PDGFRA
31embryonal cancer10.0KIT, PDGFRA
32chondrosarcoma10.0PDGFRA, MUC1
33ovarian cancer10.0PDGFRA, MUC1
34myelodysplastic syndromes10.0KIT, PDGFRA
35neurofibroma9.9KIT, PDGFRA, MUC1
36leiomyosarcoma9.9KIT, PDGFRA, MUC1
37neurilemmoma9.9MUC1, PDGFRA, KIT
38lung small cell carcinoma9.9KIT, PDGFRA, MUC1
39sarcoma9.9KIT, PDGFRA, MUC1
40kidney cancer9.9MUC1, PDGFRA, KIT
41chronic myeloid leukemia9.9PDGFRA, KIT

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



Diseases related to reticular perineurioma

Symptoms for Reticular Perineurioma

About this section

Drugs & Therapeutics for Reticular Perineurioma

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Reticular Perineurioma

Search NIH Clinical Center for Reticular Perineurioma

Genetic Tests for Reticular Perineurioma

About this section

Anatomical Context for Reticular Perineurioma

About this section

Animal Models for Reticular Perineurioma or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Reticular Perineurioma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KIT, PDGFRA
2MP:00020068.7KIT, PDGFRA, MUC1
3MP:00030128.6MUC1, PDGFRA, KIT
4MP:00053818.6KIT, PDGFRA, MUC1
5MP:00053798.5MUC1, PDGFRA, KIT
6MP:00107718.4KIT, PDGFRA, MUC1
7MP:00028738.2KIT, PDGFRA, MUC1

Publications for Reticular Perineurioma

About this section
Sources:
52PubMed
See all sources

Articles related to Reticular Perineurioma:

idTitleAuthorsYear
1
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
2
Intraneural reticular perineurioma of the hypoglossal nerve. (18972430)
2009
3
Intraneural reticular perineurioma of the neck. (12715338)
2003
4
Reticular perineurioma: a distinctive variant of soft tissue perineurioma. (11257623)
2001

Variations for Reticular Perineurioma

About this section

Expression for genes affiliated with Reticular Perineurioma

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Reticular Perineurioma

Search GEO for disease gene expression data for Reticular Perineurioma.

Pathways for genes affiliated with Reticular Perineurioma

About this section
Sources:
50PathCards, 30KEGG, 53QIAGEN, 55Reactome, 60Thomson Reuters, 51PharmGKB, 61Tocris Bioscience, 5Cell Signaling Technology, 38NCBI BioSystems Database
See all sources

Pathways related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1KIT, PDGFRA
2
Show member pathways
9.1PDGFRA, KIT
39.1KIT, PDGFRA
49.1PDGFRA, KIT
5
Show member pathways
9.1PDGFRA, KIT
6
Show member pathways
9.1KIT, PDGFRA
7
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1KIT, PDGFRA
8
Show member pathways
9.1KIT, PDGFRA
99.1PDGFRA, KIT
109.1KIT, PDGFRA
119.1KIT, PDGFRA
12
Show member pathways
9.1KIT, PDGFRA
13
Show member pathways
8.5MUC1, KIT, PDGFRA

Compounds for genes affiliated with Reticular Perineurioma

About this section
Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1trastuzumab45 51 1111.7KIT, MUC1
2hematoxylin459.7MUC1, KIT
3cytarabine45 51 1111.6KIT, MUC1
4gold459.6KIT, MUC1
5agarose459.6KIT, MUC1
6formaldehyde45 2410.6MUC1, KIT
7pkc 412459.5KIT, PDGFRA
8ag-1296459.5KIT, PDGFRA
9methotrexate51 45 1111.5MUC1, KIT
10pazopanib51 1110.5KIT, PDGFRA
11ponatinib51 1110.5KIT, PDGFRA
12sunitinib45 51 1111.5KIT, PDGFRA
13regorafenib51 1110.5PDGFRA, KIT
145fluorouracil459.5KIT, MUC1
15hydroxyurea45 51 1111.4PDGFRA, KIT
16ribonucleic acid459.4KIT, MUC1
17imatinib45 51 1111.4KIT, PDGFRA
18actinomycin d459.3KIT, MUC1
19folate459.3PDGFRA, MUC1
20phosphotyrosine459.2KIT, PDGFRA
21rapamycin459.1PDGFRA, KIT
22glycogen45 2410.0KIT, MUC1
23paraffin458.9MUC1, PDGFRA, KIT
24thymidine45 249.9KIT, PDGFRA, MUC1
25vegf458.9KIT, PDGFRA, MUC1
26estrogen458.8KIT, PDGFRA, MUC1
27retinoic acid45 249.8KIT, PDGFRA, MUC1
28tyrosine458.7KIT, PDGFRA, MUC1
29calcium45 51 24 1111.4KIT, PDGFRA, MUC1

GO Terms for genes affiliated with Reticular Perineurioma

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Reticular Perineurioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.1KIT, PDGFRA

Biological processes related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:0108639.4KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4PDGFRA, KIT
3cell chemotaxisGO:0603269.4PDGFRA, KIT
4positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3KIT, PDGFRA
5peptidyl-tyrosine phosphorylationGO:0181089.3PDGFRA, KIT
6positive regulation of cell migrationGO:0303359.3KIT, PDGFRA
7phosphatidylinositol-mediated signalingGO:0480159.2PDGFRA, KIT
8protein autophosphorylationGO:0467779.2KIT, PDGFRA
9fibroblast growth factor receptor signaling pathwayGO:0085439.1PDGFRA, KIT
10neurotrophin TRK receptor signaling pathwayGO:0480119.1KIT, PDGFRA
11Fc-epsilon receptor signaling pathwayGO:0380959.0PDGFRA, KIT
12epidermal growth factor receptor signaling pathwayGO:0071738.8PDGFRA, KIT

Molecular functions related to Reticular Perineurioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.1KIT, PDGFRA

Products for genes affiliated with Reticular Perineurioma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Reticular Perineurioma

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet