MCID: RTC007
MIFTS: 31

Reticular Perineurioma malady

Neuronal diseases, Cancer diseases, Rare diseases categories

Summaries for Reticular Perineurioma

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34MalaCards
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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

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50Orphanet
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Classifications:

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


Aliases & Descriptions:

reticular perineurioma 50


Related Diseases for Reticular Perineurioma

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18GeneCards, 19GeneDecks
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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

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Drugs & Therapeutics for Reticular Perineurioma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Reticular Perineurioma

Search CenterWatch for Reticular Perineurioma

Genetic Tests for Reticular Perineurioma

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Anatomical Context for Reticular Perineurioma

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Animal Models for Reticular Perineurioma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Reticular Perineurioma:

38
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

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53PubMed
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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

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Expression for genes affiliated with Reticular Perineurioma

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 31KEGG, 54QIAGEN, 56Reactome, 61Thomson Reuters, 52PharmGKB, 62Tocris Bioscience, 5Cell Signaling Technology, 39NCBI BioSystems Database
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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 signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
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

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1trastuzumab46 52 1211.7KIT, MUC1
2hematoxylin469.7MUC1, KIT
3cytarabine46 52 1211.6KIT, MUC1
4gold469.6KIT, MUC1
5agarose469.6KIT, MUC1
6formaldehyde46 2510.6MUC1, KIT
7pkc 412469.5KIT, PDGFRA
8ag-1296469.5KIT, PDGFRA
9methotrexate52 46 1211.5MUC1, KIT
10pazopanib52 1210.5KIT, PDGFRA
11ponatinib52 1210.5KIT, PDGFRA
12sunitinib46 52 1211.5KIT, PDGFRA
13regorafenib52 1210.5PDGFRA, KIT
145fluorouracil469.5KIT, MUC1
15hydroxyurea46 52 1211.4PDGFRA, KIT
16ribonucleic acid469.4KIT, MUC1
17imatinib46 52 1211.4KIT, PDGFRA
18actinomycin d469.3KIT, MUC1
19folate469.3PDGFRA, MUC1
20phosphotyrosine469.2KIT, PDGFRA
21rapamycin469.1PDGFRA, KIT
22glycogen46 2510.0KIT, MUC1
23paraffin468.9MUC1, PDGFRA, KIT
24thymidine46 259.9KIT, PDGFRA, MUC1
25vegf468.9KIT, PDGFRA, MUC1
26estrogen468.8KIT, PDGFRA, MUC1
27retinoic acid46 259.8KIT, PDGFRA, MUC1
28tyrosine468.7KIT, PDGFRA, MUC1
29calcium46 52 25 1211.4KIT, PDGFRA, MUC1

GO Terms for genes affiliated with Reticular Perineurioma

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Reticular Perineurioma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet