MCID: RTC007
MIFTS: 31

Reticular Perineurioma malady

Neuronal diseases, Cancer diseases, Rare diseases categories
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Summaries for Reticular Perineurioma

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MalaCards based summary: 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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Reticular Perineurioma, Aliases & Descriptions:

Name: Reticular Perineurioma 48


Classifications:

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


Related Diseases for Reticular Perineurioma

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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
1perineurioma31.4MUC1
2myelofibrosis10.2PDGFRA
3dermatofibrosarcoma protuberans10.1KIT, MUC1
4thymus cancer10.1KIT, MUC1
5merkel cell carcinoma10.1KIT, MUC1
6malignant mixed mullerian tumor10.1KIT, MUC1
7salivary gland adenoid cystic carcinoma10.1KIT, MUC1
8neuroendocrine carcinoma10.1MUC1, KIT
9oxyphilic adenoma10.1MUC1, KIT
10synovial sarcoma10.1KIT, MUC1
11mesenchymal cell neoplasm10.1KIT, PDGFRA
12carney triad10.1PDGFRA, KIT
13desmoid tumor10.1PDGFRA, KIT
14piebaldism10.1KIT, PDGFRA
15systemic mastocytosis10.1PDGFRA, KIT
16endometrial stromal sarcoma10.0KIT, PDGFRA
17hypereosinophilic syndrome10.0KIT, PDGFRA
18pdgfrb-associated chronic eosinophilic 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
29bone marrow cancer9.9PDGFRA, KIT
30peripheral primitive neuroectodermal tumor9.9KIT, PDGFRA
31embryonal cancer9.9KIT, PDGFRA
32chondrosarcoma9.9PDGFRA, MUC1
33myelodysplastic syndromes9.8KIT, PDGFRA
34ovarian cancer9.8PDGFRA, MUC1
35neurofibroma9.8KIT, PDGFRA, MUC1
36leiomyosarcoma9.8KIT, PDGFRA, MUC1
37neurilemmoma9.8MUC1, PDGFRA, KIT
38lung small cell carcinoma9.8KIT, PDGFRA, MUC1
39sarcoma9.8KIT, PDGFRA, MUC1
40kidney cancer9.8MUC1, PDGFRA, KIT
41chronic myeloid leukemia9.8PDGFRA, 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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Drug clinical trials:

Search ClinicalTrials for Reticular Perineurioma

Search NIH Clinical Center 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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MGI Mouse Phenotypes related to Reticular Perineurioma:

36
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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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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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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Pathways related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PDGFRA, KIT
2
Show member pathways
9.1KIT, PDGFRA
39.1KIT, PDGFRA
49.1KIT, PDGFRA
5
Show member pathways
9.1KIT, PDGFRA
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
9.1PDGFRA, KIT
8
Show member pathways
9.1KIT, PDGFRA
99.1KIT, PDGFRA
109.1KIT, PDGFRA
119.1KIT, PDGFRA
12
Show member pathways
9.1PDGFRA, KIT
13
Show member pathways
8.5MUC1, PDGFRA, KIT

Compounds for genes affiliated with Reticular Perineurioma

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Reticular Perineurioma according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1trastuzumab44 50 1111.7KIT, MUC1
2hematoxylin449.7MUC1, KIT
3cytarabine44 50 1111.6KIT, MUC1
4gold449.6KIT, MUC1
5agarose449.6KIT, MUC1
6formaldehyde44 2410.6MUC1, KIT
7pkc 412449.5KIT, PDGFRA
8ag-1296449.5KIT, PDGFRA
9methotrexate50 44 1111.5MUC1, KIT
10pazopanib50 1110.5KIT, PDGFRA
11ponatinib50 1110.5KIT, PDGFRA
12sunitinib44 50 1111.5KIT, PDGFRA
13regorafenib50 1110.5PDGFRA, KIT
145fluorouracil449.5KIT, MUC1
15hydroxyurea44 50 1111.4PDGFRA, KIT
16ribonucleic acid449.4KIT, MUC1
17imatinib44 50 1111.4KIT, PDGFRA
18actinomycin d449.3KIT, MUC1
19folate449.3PDGFRA, MUC1
20phosphotyrosine449.2KIT, PDGFRA
21rapamycin449.1PDGFRA, KIT
22glycogen44 2410.0KIT, MUC1
23paraffin448.9MUC1, PDGFRA, KIT
24thymidine44 249.9KIT, PDGFRA, MUC1
25vegf448.9KIT, PDGFRA, MUC1
26estrogen448.8KIT, PDGFRA, MUC1
27retinoic acid44 249.8KIT, PDGFRA, MUC1
28tyrosine448.7KIT, PDGFRA, MUC1
29calcium44 50 24 1111.4KIT, PDGFRA, MUC1

GO Terms for genes affiliated with Reticular Perineurioma

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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:0435529.4KIT, PDGFRA
3cell chemotaxisGO:0603269.4KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3PDGFRA, KIT
5peptidyl-tyrosine phosphorylationGO:0181089.3KIT, PDGFRA
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:0085439.1KIT, PDGFRA
10neurotrophin TRK receptor signaling pathwayGO:0480119.1KIT, PDGFRA
11Fc-epsilon receptor signaling pathwayGO:0380959.0PDGFRA, KIT
12epidermal growth factor receptor signaling pathwayGO:0071738.8KIT, PDGFRA

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

Sources for Reticular Perineurioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet