MCID: RTC007
MIFTS: 20

Reticular Perineurioma malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reticular Perineurioma

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Aliases & Descriptions for Reticular Perineurioma:

Name: Reticular Perineurioma 54

Classifications:



External Ids:

Orphanet54 ORPHA100000

Summaries for Reticular Perineurioma

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MalaCards based summary: Reticular Perineurioma is related to ovarian cyst and perineurioma. 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 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1ovarian cyst10.2KIT, MUC1
2perineurioma10.2
3parachordoma10.2KIT, MUC1
4male reproductive system disease10.1KIT, PDGFRA
5breast pericanalicular fibroadenoma10.1KIT, MUC1
6vagina leiomyosarcoma10.1KIT, PDGFRA
7congenital disorder of glycosylation, type iq10.1KIT, PDGFRA
8malignant biphasic mesothelioma10.1KIT, PDGFRA
9filamentary keratitis10.1KIT, PDGFRA
10lateral medullary syndrome10.1KIT, PDGFRA
11prostate small cell carcinoma10.1KIT, PDGFRA
12diffuse cutaneous mastocytosis10.1KIT, PDGFRA
13pura syndrome10.1KIT, PDGFRA
14mercaptolactate-cysteine disulfiduria10.1KIT, PDGFRA
15mastroiacovo de rosa satta syndrome10.1KIT, PDGFRA
16epithelioid leiomyosarcoma10.1KIT, PDGFRA
17pancreatic agenesis10.1KIT, PDGFRA
18t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta10.1KIT, PDGFRA
19malignant fibrous histiocytoma of bone10.1KIT, PDGFRA
20multiple spinal canal and spinal cord meningioma10.1KIT, MUC1
21multidrug-resistant tuberculosis10.1KIT, PDGFRA
22caroli disease10.1KIT, PDGFRA
23myoepithelial carcinoma10.0MUC1, PDGFRA
24temporal lobe epilepsy10.0KIT, PDGFRA
25duodenal obstruction10.0KIT, PDGFRA
26localized osteosarcoma10.0KIT, PDGFRA
27desmoplastic infantile astrocytoma10.0KIT, PDGFRA
28dentinogenesis imperfecta, shields type ii10.0KIT, PDGFRA
29type c thymoma10.0KIT, PDGFRA
30angiokeratoma circumscriptum10.0KIT, PDGFRA
31logopenic progressive aphasia10.0MUC1, S100B
32intermediate dend syndrome10.0MUC1, S100B
33lyme disease - neurological complications10.0MUC1, S100B
34anaplastic oligoastrocytoma10.0MUC1, S100B
35lymphangiosarcoma10.0MUC1, S100B
36restrictive cardiomyopathy10.0KIT, PDGFRA
37pituitary deficiency due to rathke's pouch cysts10.0MUC1, S100B
38chondroblastoma10.0MUC1, S100B
39subacute leukemia10.0MUC1, S100B
40pseudoglandular variant testicular seminoma10.0MUC1, S100B
41pediculus humanus capitis infestation10.0MUC1, S100B
42loeffler syndrome10.0KIT, PDGFRA
43lumbar plexus neoplasm10.0MUC1, S100B
44external ear disease10.0MUC1, S100B
45subependymal giant cell astrocytoma10.0MUC1, S100B
46penis verrucous carcinoma10.0MUC1, S100B
47bartholin's gland benign neoplasm10.0MUC1, S100B
48eccrine papillary adenoma9.9MUC1, S100B
49sclerosing liposarcoma9.9MUC1, S100B
50cell type cancer9.9KIT, PDGFRA

Graphical network of the top 20 diseases related to Reticular Perineurioma:



Diseases related to reticular perineurioma

Symptoms & Phenotypes 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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Publications for Reticular Perineurioma

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Articles related to Reticular Perineurioma:

idTitleAuthorsYear
1
Reticular Perineurioma of the Hand: Diagnosis and Treatment of a Rare Case of Hand Mass. (27955966)
2016
2
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
3
Intraneural reticular perineurioma of the hypoglossal nerve. (18972430)
2009
4
Intraneural reticular perineurioma of the neck. (12715338)
2003
5
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
39.3KIT, PDGFRA
49.0PDGFRA, S100B

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
1cell chemotaxisGO:006032610.0KIT, PDGFRA
2peptidyl-tyrosine phosphorylationGO:001810810.0KIT, PDGFRA
3phosphatidylinositol phosphorylationGO:004685410.0KIT, PDGFRA
4phosphatidylinositol-mediated signalingGO:004801510.0KIT, PDGFRA
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.9KIT, PDGFRA
6positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.9KIT, PDGFRA
7positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRA
8regulation of cell shapeGO:00083609.6KIT, S100B
9regulation of phosphatidylinositol 3-kinase signalingGO:00140669.3KIT, PDGFRA
10positive regulation of cell proliferationGO:00082849.1KIT, PDGFRA, S100B

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0KIT, PDGFRA
2Ras guanyl-nucleotide exchange factor activityGO:00050889.8KIT, PDGFRA
3transmembrane receptor protein tyrosine kinase activityGO:00047149.3KIT, PDGFRA
4protein homodimerization activityGO:00428039.1KIT, PDGFRA, S100B

Sources for Reticular Perineurioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet