MCID: RTC007
MIFTS: 22

Reticular Perineurioma malady

Neuronal diseases, Cancer diseases, Rare diseases categories

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 malignant teratocarcinosarcoma. An important gene associated with Reticular Perineurioma is MUC1 (Mucin 1, Cell Surface Associated), and among its related pathways are Tyrosine Kinases / Adaptors and Central carbon metabolism in cancer. Related mouse phenotypes are tumorigenesis and normal.

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 101)
idRelated DiseaseScoreTop Affiliating Genes
1perineurioma10.6
2malignant teratocarcinosarcoma10.1KIT, MUC1
3leg dermatosis10.1KIT, MUC1
4bladder urachal adenocarcinoma10.1KIT, MUC1
5ceruminous carcinoma10.1KIT, MUC1
6rift valley fever10.1KIT, MUC1
7hemiplegia10.1KIT, MUC1
8medulloepithelioma10.1KIT, PDGFRA
9hypereosinophilic syndrome, idiopathic, resistant to imatinib10.1KIT, PDGFRA
10urinary bladder small cell neuroendocrine carcinoma10.1KIT, PDGFRA
11thymoma10.1KIT, MUC1
12partial sensory epilepsy10.1KIT, PDGFRA
13trabecular follicular adenocarcinoma10.1KIT, MUC1
14prostate leiomyosarcoma10.1KIT, PDGFRA
15tracheomalacia10.1KIT, MUC1
16cutaneous t cell lymphoma10.1KIT, PDGFRA
17pulmonary venous return anomaly10.1KIT, PDGFRA
18cryptococcosis10.1KIT, PDGFRA
19heart septal defect10.1KIT, PDGFRA
20carnitine palmitoyltransferase i deficiency , muscle10.1KIT, PDGFRA
21desmoplastic infantile astrocytoma10.1KIT, PDGFRA
22periosteal osteogenic sarcoma10.1KIT, PDGFRA
23mesenchymal chondrosarcoma10.1KIT, PDGFRA
24osteogenesis imperfecta - retinopathy - seizures - intellectual disability10.1KIT, PDGFRA
25hypergonadotropic ovarian failure, familial or sporadic10.1KIT, PDGFRA
26cecal benign neoplasm10.1KIT, PDGFRA
27anterior cranial fossa meningioma10.1KIT, MUC1
28oral hairy leukoplakia10.1KIT, PDGFRA
29mastocytosis cutaneous with short stature conductive hearing loss and microtia10.1KIT, PDGFRA
30progressive muscular atrophy10.0KIT, PDGFRA
31breast pericanalicular fibroadenoma10.0KIT, MUC1
32lacrimal gland mucoepidermoid carcinoma10.0KIT, PDGFRA
33total anomalous pulmonary venous return10.0KIT, PDGFRA
34systemic scleroderma10.0KIT, PDGFRA
35benign hypertensive renal disease10.0KIT, PDGFRA
36silent myocardial infarction10.0KIT, PDGFRA
37localized lipodystrophy10.0MUC1, S100B
38complex regional pain syndrome type 110.0MUC1, S100B
39leukodystrophy10.0KIT, PDGFRA
40lupus - neurological sequelae10.0MUC1, S100B
41lymphangiosarcoma10.0MUC1, S100B
42pituitary dermoid and epidermoid cysts10.0MUC1, S100B
43lymphoplasmacyte-rich meningioma10.0MUC1, S100B
44cervical incompetence10.0MUC1, S100B
45lung oat cell carcinoma10.0MUC1, S100B
46brachyolmia10.0KIT, PDGFRA
47ophthalmia neonatorum10.0MUC1, S100B
48portal hypertension10.0MUC1, S100B
49differentiating neuroblastoma10.0MUC1, S100B
50clivus chordoma10.0MUC1, S100B

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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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
1MP:00020068.8KIT, MUC1, PDGFRA
2MP:00028738.1KIT, MUC1, PDGFRA, S100B
3MP:00107717.7KIT, MUC1, PDGFRA, S100B

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3KIT, PDGFRA
29.3KIT, PDGFRA
39.3KIT, 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:001086310.0KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8KIT, PDGFRA
3positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8KIT, PDGFRA
4phosphatidylinositol-mediated signalingGO:00480159.7KIT, PDGFRA
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.6KIT, PDGFRA
6regulation of cell shapeGO:00083609.4KIT, S100B
7peptidyl-tyrosine phosphorylationGO:00181089.4KIT, PDGFRA
8cell chemotaxisGO:00603269.0KIT, PDGFRA
9positive regulation of cell proliferationGO:00082848.7KIT, PDGFRA, S100B
10innate immune responseGO:00450878.5KIT, PDGFRA, S100B

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:00047149.5KIT, PDGFRA
2protein tyrosine kinase activityGO:00047139.3KIT, PDGFRA
3protein homodimerization activityGO:00428038.5KIT, PDGFRA, S100B

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