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 52

Classifications:



External Ids:

Orphanet52 ORPHA100000

Summaries for Reticular Perineurioma

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MalaCards based summary: Reticular Perineurioma is related to perineurioma and logopenic progressive aphasia. An important gene associated with Reticular Perineurioma is MUC1 (Mucin 1, Cell Surface Associated), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Tyrosine Kinases / Adaptors.

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 87)
idRelated DiseaseScoreTop Affiliating Genes
1perineurioma10.3
2logopenic progressive aphasia10.3MUC1, S100B
3intermediate dend syndrome10.3MUC1, S100B
4lyme disease - neurological complications10.3MUC1, S100B
5anaplastic oligoastrocytoma10.3MUC1, S100B
6lymphangiosarcoma10.3MUC1, S100B
7pituitary deficiency due to rathke's pouch cysts10.3MUC1, S100B
8chondroblastoma10.3MUC1, S100B
9subacute leukemia10.3MUC1, S100B
10pseudoglandular variant testicular seminoma10.3MUC1, S100B
11pediculus humanus capitis infestation10.3MUC1, S100B
12lumbar plexus neoplasm10.3MUC1, S100B
13external ear disease10.3MUC1, S100B
14subependymal giant cell astrocytoma10.3MUC1, S100B
15penis verrucous carcinoma10.3MUC1, S100B
16bartholin's gland benign neoplasm10.3MUC1, S100B
17eccrine papillary adenoma10.3MUC1, S100B
18sclerosing liposarcoma10.3MUC1, S100B
19gallbladder adenoma10.3MUC1, S100B
20skin glomangioma10.3MUC1, S100B
21lipoadenoma10.2MUC1, S100B
22l-cell glucagon-like peptide producing tumor10.2MUC1, S100B
23central centrifugal cicatricial alopecia10.2MUC1, S100B
24sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes10.2MUC1, S100B
25dens in dente and palatal invaginations10.2MUC1, S100B
26nerve root neoplasm10.2MUC1, S100B
27glioma susceptibility 110.2MUC1, S100B
28acute serous otitis media10.2MUC1, S100B
29gallbladder leiomyosarcoma10.2MUC1, S100B
30ovarian cyst10.2KIT, MUC1
31adenomyoma of uterine corpus10.2MUC1, S100B
32megarbane jalkh syndrome10.2MUC1, S100B
33epithelioid cell melanoma10.1KIT, S100B
34parachordoma10.1KIT, MUC1
35lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy10.1MUC1, S100B
36emerinopathy10.1KIT, S100B
37breast pericanalicular fibroadenoma10.1KIT, MUC1
38cervix endometrial stromal tumor10.1MUC1, S100B
39multiple spinal canal and spinal cord meningioma10.0KIT, MUC1
40mixed extragonadal germ cell cancer9.9KIT, S100B
41male reproductive system disease9.9KIT, PDGFRA
42vagina leiomyosarcoma9.9KIT, PDGFRA
43myoepithelial carcinoma9.9MUC1, PDGFRA
44congenital disorder of glycosylation, type iq9.9KIT, PDGFRA
45myopathy9.9KIT, S100B
46malignant biphasic mesothelioma9.9KIT, PDGFRA
47filamentary keratitis9.9KIT, PDGFRA
48lateral medullary syndrome9.9KIT, PDGFRA
49prostate small cell carcinoma9.9KIT, PDGFRA
50diffuse cutaneous mastocytosis9.9KIT, 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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Animal Models for Reticular Perineurioma or affiliated genes

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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
19.1PDGFRA, S100B
29.0KIT, PDGFRA
39.0KIT, PDGFRA
49.0KIT, 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:00108639.7KIT, PDGFRA
2phosphatidylinositol phosphorylationGO:00468549.6KIT, PDGFRA
3positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6KIT, PDGFRA
4regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6KIT, PDGFRA
5regulation of cell shapeGO:00083609.5KIT, S100B
6phosphatidylinositol-mediated signalingGO:00480159.5KIT, PDGFRA
7peptidyl-tyrosine phosphorylationGO:00181089.3KIT, PDGFRA
8positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3KIT, PDGFRA
9cell chemotaxisGO:00603269.0KIT, PDGFRA
10positive regulation of cell proliferationGO:00082848.5KIT, 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:00469349.5KIT, PDGFRA
2transmembrane receptor protein tyrosine kinase activityGO:00047149.4KIT, PDGFRA
3Ras guanyl-nucleotide exchange factor activityGO:00050889.3KIT, PDGFRA
4protein homodimerization activityGO:00428038.5KIT, PDGFRA, S100B

Sources for Reticular Perineurioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet