MCID: RTC007
MIFTS: 25

Reticular Perineurioma malady

Categories: Neuronal diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

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Aliases & Descriptions for Reticular Perineurioma:

Name: Reticular Perineurioma 51

Classifications:



External Ids:

Orphanet51 100000

Summaries for Reticular Perineurioma

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MalaCards based summary: Reticular Perineurioma is related to perineurioma and aggressive systemic mastocytosis. An important gene associated with Reticular Perineurioma is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways are Cardiac Progenitor Differentiation and Central carbon metabolism in cancer. Affiliated tissues include prostate, lung and thymus.

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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1perineurioma10.3
2aggressive systemic mastocytosis10.2KIT, PDGFRA
3multiple chemical sensitivity10.2KIT, PDGFRA
4rhinitis10.2KIT, PDGFRA
5prostate leiomyosarcoma10.1KIT, PDGFRA
6bartholin's gland small cell carcinoma10.1KIT, PDGFRA
7mast cell neoplasm10.1KIT, PDGFRA
8carnitine palmitoyltransferase i deficiency , muscle10.1KIT, PDGFRA
9pediatric fibrosarcoma10.1KIT, PDGFRA
10ovary leiomyosarcoma10.1KIT, PDGFRA
11comedo carcinoma10.1KIT, PDGFRA
12osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome10.1KIT, PDGFRA
13bone angioendothelial sarcoma10.1KIT, PDGFRA
14mastocytosis cutaneous with short stature conductive hearing loss and microtia10.1KIT, PDGFRA
15small cell neuroendocrine carcinoma10.1KIT, PDGFRA
16fallopian tube transitional cell carcinoma10.1KIT, PDGFRA
17superior mesenteric artery syndrome10.1KIT, PDGFRA
18fibrosarcoma10.1KIT, PDGFRA
19total anomalous pulmonary venous return10.1KIT, PDGFRA
20vesicoureteral reflux10.1KIT, PDGFRA
21cellular schwannoma10.0KIT, PDGFRA
22systemic scleroderma10.0KIT, PDGFRA
23thymus large cell carcinoma10.0KIT, PDGFRA
24chronic eosinophilic pneumonia10.0KIT, PDGFRA
25desmoplastic infantile astrocytoma10.0KIT, PDGFRA
26organ system cancer10.0KIT, PDGFRA
27angiokeratoma of mibelli10.0KIT, PDGFRA
28basal ganglia calcification, idiopathic, 510.0KIT, PDGFRA
29thrombocythemia 310.0KIT, PDGFRA
30hypothyroidism due to deficient transcription factors involved in pituitary development or function9.9MUC1, PDGFRA
31tenosynovitis of foot and ankle9.9KIT, PDGFRA
32renal tubular acidosis, distal, autosomal recessive9.9MUC1, PDGFRA
33pericardial tuberculosis9.9KIT, PDGFRA
34gorham's disease9.9MUC1, PDGFRA
35malignant teratocarcinosarcoma9.9KIT, MUC1
36ovarian cystic teratoma9.9KIT, MUC1
37benign mesothelioma9.9KIT, MUC1
38nerve root neoplasm9.8KIT, MUC1
39decubitus ulcer9.8KIT, PDGFRA
40ovarian brenner tumor9.8KIT, MUC1
41acantholytic squamous cell skin carcinoma9.8KIT, MUC1
42gastrointestinal stromal tumor9.7KIT, PDGFRA
43spermatogenic failure 139.7KIT, MUC1
44brachyolmia9.6KIT, MUC1
45agammaglobulinemia 29.6KIT, PDGFRA
46cell type cancer9.6KIT, MUC1
47heme oxygenase-1 deficiency9.4KIT, PDGFRA
48prostate neuroendocrine neoplasm9.4KIT, MUC1
49extraneural perineurioma9.4KIT, MUC1, PDGFRA
50caroli disease9.4KIT, MUC1, 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Reticular Perineurioma

Genetic Tests for Reticular Perineurioma

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Anatomical Context for Reticular Perineurioma

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MalaCards organs/tissues related to Reticular Perineurioma:

33
Prostate, Lung, Thymus, Skin, Ovary, Pituitary, Endothelial

Animal Models for Reticular Perineurioma or affiliated genes

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MGI Mouse Phenotypes related to Reticular Perineurioma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

idSuper pathwaysScoreTop Affiliating Genes
19.3KIT, PDGFRA
29.3KIT, PDGFRA
3
Show member pathways
8.5KIT, MUC1, PDGFRA

GO Terms for genes affiliated with Reticular Perineurioma

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA
2phosphatidylinositol-mediated signalingGO:00480159.8KIT, PDGFRA
3transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.7KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7KIT, PDGFRA
5protein autophosphorylationGO:00467779.7KIT, PDGFRA
6positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.5KIT, PDGFRA
7cell chemotaxisGO:00603269.4KIT, PDGFRA
8insulin receptor signaling pathwayGO:00082869.3KIT, PDGFRA
9activation of MAPKK activityGO:00001869.2KIT, PDGFRA
10vascular endothelial growth factor receptor signaling pathwayGO:00480109.0KIT, PDGFRA

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.3KIT, PDGFRA

Sources for Reticular Perineurioma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet