MCID: RTC007
MIFTS: 27

Reticular Perineurioma malady

Neuronal diseases, Cancer diseases, Rare diseases categories

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 47


Classifications:

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


External Ids:

Orphanet47 100000

Related Diseases for Reticular Perineurioma

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1perineurioma31.4MUC1
2myelofibrosis10.2PDGFRA
3dermatofibrosarcoma protuberans10.1MUC1, KIT
4thymic carcinoma10.1KIT, MUC1
5merkel cell carcinoma10.1KIT, MUC1
6malignant mixed mullerian tumor10.1MUC1, KIT
7salivary gland adenoid cystic carcinoma10.1KIT, MUC1
8oxyphilic adenoma10.1MUC1, KIT
9neuroendocrine tumor10.1MUC1, KIT
10sarcoma, synovial10.1KIT, MUC1
11mesenchymal cell neoplasm10.1PDGFRA, KIT
12hypereosinophilic syndrome, idiopathic, resistant to imatinib10.1KIT, PDGFRA
13desmoid disease, hereditary10.1KIT, PDGFRA
14carney triad10.0KIT, PDGFRA
15piebaldism10.0PDGFRA, KIT
16systemic mastocytosis10.0PDGFRA, KIT
17endometrial stromal sarcoma10.0PDGFRA, KIT
18hypereosinophilic syndrome10.0PDGFRA, KIT
19chronic myelomonocytic leukemia10.0PDGFRA, KIT
20mastocytosis10.0KIT, PDGFRA
21malignant peripheral nerve sheath tumor10.0PDGFRA, KIT
22polycythemia vera10.0PDGFRA, KIT
23neurofibromatosis10.0PDGFRA, KIT
24chordoma10.0MUC1, PDGFRA
25angiosarcoma10.0PDGFRA, MUC1
26gastrointestinal stromal tumor10.0KIT, PDGFRA
27ependymoma10.0PDGFRA, MUC1
28seminoma10.0PDGFRA, KIT
29leiomyoma9.9KIT, PDGFRA
30bone marrow cancer9.9KIT, PDGFRA
31ewing sarcoma9.9PDGFRA, KIT
32embryonal cancer9.9PDGFRA, KIT
33chondrosarcoma9.9PDGFRA, MUC1
34myelodysplastic syndrome9.8PDGFRA, KIT
35ovarian cancer, somatic9.8MUC1, PDGFRA
36neurofibroma9.8MUC1, PDGFRA, KIT
37leiomyosarcoma9.8KIT, PDGFRA, MUC1
38neurilemmoma9.8KIT, PDGFRA, MUC1
39small cell cancer of the lung, somatic9.8KIT, MUC1, PDGFRA
40sarcoma9.8MUC1, PDGFRA, KIT
41kidney cancer9.8PDGFRA, MUC1, KIT
42leukemia, chronic myeloid9.7KIT, PDGFRA

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:

35
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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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 Suite gene sharing:

(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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
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:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
See all sources

Compounds related to Reticular Perineurioma according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1trastuzumab43 49 1211.7KIT, MUC1
2hematoxylin439.7MUC1, KIT
3cytarabine43 49 1211.6KIT, MUC1
4gold439.6KIT, MUC1
5agarose439.6KIT, MUC1
6formaldehyde43 2410.6MUC1, KIT
7pkc 412439.5KIT, PDGFRA
8ag-1296439.5KIT, PDGFRA
9methotrexate49 43 1211.5MUC1, KIT
10pazopanib49 1210.5KIT, PDGFRA
11ponatinib49 1210.5KIT, PDGFRA
12sunitinib43 49 1211.5KIT, PDGFRA
13regorafenib49 1210.5PDGFRA, KIT
145fluorouracil439.5KIT, MUC1
15hydroxyurea43 49 1211.4PDGFRA, KIT
16ribonucleic acid439.4KIT, MUC1
17imatinib43 49 1211.4KIT, PDGFRA
18actinomycin d439.3KIT, MUC1
19folate439.3PDGFRA, MUC1
20phosphotyrosine439.2KIT, PDGFRA
21rapamycin439.1PDGFRA, KIT
22glycogen43 2410.0KIT, MUC1
23paraffin438.9MUC1, PDGFRA, KIT
24thymidine43 249.9KIT, PDGFRA, MUC1
25vegf438.9KIT, PDGFRA, MUC1
26estrogen438.8KIT, PDGFRA, MUC1
27retinoic acid43 249.8KIT, PDGFRA, MUC1
28tyrosine438.7KIT, PDGFRA, MUC1
29calcium43 49 24 1211.4KIT, PDGFRA, MUC1

GO Terms for genes affiliated with Reticular Perineurioma

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Cellular components related to Reticular Perineurioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.1KIT, PDGFRA

Biological processes related to Reticular Perineurioma according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:00108639.4KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.4KIT, PDGFRA
3cell chemotaxisGO:00603269.4KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3PDGFRA, KIT
5peptidyl-tyrosine phosphorylationGO:00181089.3KIT, PDGFRA
6positive regulation of cell migrationGO:00303359.3KIT, PDGFRA
7phosphatidylinositol-mediated signalingGO:00480159.2PDGFRA, KIT
8protein autophosphorylationGO:00467779.2KIT, PDGFRA
9fibroblast growth factor receptor signaling pathwayGO:00085439.1KIT, PDGFRA
10neurotrophin TRK receptor signaling pathwayGO:00480119.1KIT, PDGFRA
11Fc-epsilon receptor signaling pathwayGO:00380959.0PDGFRA, KIT
12epidermal growth factor receptor signaling pathwayGO:00071738.8KIT, PDGFRA

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:00047149.1KIT, PDGFRA

Products for genes affiliated with Reticular Perineurioma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Reticular Perineurioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet